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Sample records for absence epilepsy identifies

  1. Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes

    OpenAIRE

    Lopes, Ana Filipa; Monteiro, José Paulo; Fonseca, Maria José; Robalo, Conceição; Simões, Mário Rodrigues

    2014-01-01

    Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal ...

  2. Genetic models of absence epilepsy: New concepts and insights

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Stein, J.

    2017-01-01

    The discovery, development and use of genetic rodent models of absence epilepsy have led to a new theory about the origin of absence seizures, which has gained impact within the international epilepsy community. A focal zone has been identified in the perioral region of the somatosensory cortex in

  3. Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes

    Directory of Open Access Journals (Sweden)

    Ana Filipa Lopes

    2014-01-01

    Full Text Available Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE, childhood absence epilepsy (CAE, and benign epilepsy with centrotemporal spikes (BECTS and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children, aged 6–15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.

  4. Automatic characterization of dynamics in Absence Epilepsy

    DEFF Research Database (Denmark)

    Petersen, Katrine N. H.; Nielsen, Trine N.; Kjær, Troels W.

    2013-01-01

    Dynamics of the spike-wave paroxysms in Childhood Absence Epilepsy (CAE) are automatically characterized using novel approaches. Features are extracted from scalograms formed by Continuous Wavelet Transform (CWT). Detection algorithms are designed to identify an estimate of the temporal development...

  5. Genetic models of absence epilepsy: New concepts and insights

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Coenen, A.M.L.; Schwartzkroin, P.A.

    2009-01-01

    The discovery, development, and use of genetic rodent models of absence epilepsy have led to a new theory about the origin of absence seizures. A focal zone has been identified in the peri-oral region of the somatosensory cortex in WAG/Rij and GAERS – the two most commonly used models – from which

  6. Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2011-05-01

    GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.

  7. Linkage and association analysis of CACNG3 in childhood absence epilepsy

    DEFF Research Database (Denmark)

    Everett, Kate V; Chioza, Barry; Aicardi, Jean

    2007-01-01

    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes...

  8. The role of SLC2A1 in early onset and childhood absence epilepsies

    DEFF Research Database (Denmark)

    Muhle, Hiltrud; Helbig, Ingo; Frøslev, Tobias Guldberg

    2013-01-01

    Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset...

  9. EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

    DEFF Research Database (Denmark)

    Sadleir, L.G.; Scheffer, I.E.; Smith, S.

    2009-01-01

    Purpose: Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the EEG...... features of absence seizures. Methods: Children with untreated absence seizures were studied using video-EEG recording. The influence of state of arousal, provocation (hyperventilation, photic stimulation), age, and epilepsy syndrome on specific EEG features was analyzed. Results: Five hundred nine...... seizures were evaluated in 70 children with the following syndromes: childhood absence epilepsy (CAE) 37, CAE+ photoparoxysmal response (PPR) 10, juvenile absence epilepsy (JAE) 8, juvenile myoclonic epilepsy (JME) 6, and unclassified 9. Polyspikes occurred in all syndromes but were more common in JME...

  10. Cortical and limbic excitability in rats with absence epilepsy

    NARCIS (Netherlands)

    Tolmacheva, E.A.; Luijtelaar, E.L.J.M. van; Chepurnov, S.A.; Kaminskij, Y.; Mares, P.

    2004-01-01

    The classical cortico-reticular theory on absence epilepsy suggests that a hyperexcitable cortex is a precondition for the occurrence of absence seizures. In the present experiment seizure thresholds and characteristics of cortical and limbic epileptic afterdischarges (AD) were determined in a

  11. Automatic Detection of Childhood Absence Epilepsy Seizures: Toward a Monitoring Device

    DEFF Research Database (Denmark)

    Duun-Henriksen, Jonas; Madsen, Rasmus E.; Remvig, Line S.

    2012-01-01

    Automatic detections of paroxysms in patients with childhood absence epilepsy have been neglected for several years. We acquire reliable detections using only a single-channel brainwave monitor, allowing for unobtrusive monitoring of antiepileptic drug effects. Ultimately we seek to obtain optimal...... long-term prognoses, balancing antiepileptic effects and side effects. The electroencephalographic appearance of paroxysms in childhood absence epilepsy is fairly homogeneous, making it feasible to develop patient-independent automatic detection. We implemented a state-of-the-art algorithm...

  12. Cortical and subcortical brain alterations in Juvenile Absence Epilepsy

    Directory of Open Access Journals (Sweden)

    Manuela Tondelli

    2016-01-01

    Full Text Available Despite the common assumption that genetic generalized epilepsies are characterized by a macroscopically normal brain on magnetic resonance imaging, subtle structural brain alterations have been detected by advanced neuroimaging techniques in Childhood Absence Epilepsy syndrome. We applied quantitative structural MRI analysis to a group of adolescents and adults with Juvenile Absence Epilepsy (JAE in order to investigate micro-structural brain changes using different brain measures. We examined grey matter volumes, cortical thickness, surface areas, and subcortical volumes in 24 patients with JAE compared to 24 healthy controls; whole-brain voxel-based morphometry (VBM and Freesurfer analyses were used. When compared to healthy controls, patients revealed both grey matter volume and surface area reduction in bilateral frontal regions, anterior cingulate, and right mesial-temporal lobe. Correlation analysis with disease duration showed that longer disease was correlated with reduced surface area in right pre- and post-central gyrus. A possible effect of valproate treatment on brain structures was excluded. Our results indicate that subtle structural brain changes are detectable in JAE and are mainly located in anterior nodes of regions known to be crucial for awareness, attention and memory.

  13. Frontal and temporal volumes in Childhood Absence Epilepsy.

    Science.gov (United States)

    Caplan, Rochelle; Levitt, Jennifer; Siddarth, Prabha; Wu, Keng Nei; Gurbani, Suresh; Sankar, Raman; Shields, W Donald

    2009-11-01

    This study compared frontotemporal brain volumes in children with childhood absence epilepsy (CAE) to age- and gender-matched children without epilepsy. It also examined the association of these volumes with seizure, demographic, perinatal, intelligence quotient (IQ), and psychopathology variables. Twenty-six children with CAE, aged 7.5-11.8 years, and 37 children without epilepsy underwent brain magnetic resonance imaging (MRI) scans at 1.5 Tesla. Tissue was segmented, and total brain, frontal lobe, frontal parcellations, and temporal lobe volumes were computed. All children had IQ testing and structured psychiatric interviews. Parents provided seizure, perinatal, and behavioral information on each child. The CAE group had significantly smaller gray matter volumes of the left orbital frontal gyrus as well as both left and right temporal lobes compared to the age- and gender-matched children without epilepsy. In the CAE group these volumes were related to age, gender, ethnicity, and pregnancy complications but not to seizure, IQ, and psychopathology variables. In the group of children without epilepsy, however, the volumes were related to IQ. These findings suggest that CAE impacts brain development in regions implicated in behavior, cognition, and language. In addition to supporting the cortical focus theory of CAE, these findings also imply that CAE is not a benign disorder.

  14. Neurochemical and Behavioral Features in Genetic Absence Epilepsy and in Acutely Induced Absence Seizures

    NARCIS (Netherlands)

    Bazyan, A.S.; Luijtelaar, E.L.J.M. van

    2013-01-01

    The absence epilepsy typical electroencephalographic pattern of sharp spikes and slow waves (SWDs) is considered to be due to an interaction of an initiation site in the cortex and a resonant circuit in the thalamus. The hyperpolarization-activated cyclic nucleotide-gated cationic Ih pacemaker

  15. Attention impairment in childhood absence epilepsy : An impulsivity problem?

    NARCIS (Netherlands)

    Cerminara, Caterina; D'Agati, Elisa; Casarelli, Livia; Kaunzinger, Ivo; Lange, Klaus W.; Pitzianti, Mariabernarda; Parisi, Pasquale; Tucha, Oliver; Curatolo, Paolo

    Although attention problems have often been described in children with childhood absence epilepsy (CAE), the use of different methodological approaches, neuropsychological tests, and heterogeneous experimental groups has prevented identification of the selective areas of attention deficit in this

  16. Pretreatment seizure semiology in childhood absence epilepsy.

    Science.gov (United States)

    Kessler, Sudha Kilaru; Shinnar, Shlomo; Cnaan, Avital; Dlugos, Dennis; Conry, Joan; Hirtz, Deborah G; Hu, Fengming; Liu, Chunyan; Mizrahi, Eli M; Moshé, Solomon L; Clark, Peggy; Glauser, Tracy A

    2017-08-15

    To determine seizure semiology in children with newly diagnosed childhood absence epilepsy and to evaluate associations with short-term treatment outcomes. For participants enrolled in a multicenter, randomized, double-blind, comparative-effectiveness trial, semiologic features of pretreatment seizures were analyzed as predictors of treatment outcome at the week 16 to 20 visit. Video of 1,932 electrographic absence seizures from 416 participants was evaluated. Median seizure duration was 10.2 seconds; median time between electrographic seizure onset and clinical manifestation onset was 1.5 seconds. For individual seizures and by participant, the most common semiology features were pause/stare (seizure 95.5%, participant 99.3%), motor automatisms (60.6%, 86.1%), and eye involvement (54.9%, 76.5%). The interrater agreement for motor automatisms and eye involvement was good (72%-84%). Variability of semiology features between seizures even within participants was high. Clustering analyses revealed 4 patterns (involving the presence/absence of eye involvement and motor automatisms superimposed on the nearly ubiquitous pause/stare). Most participants experienced more than one seizure cluster pattern. No individual semiologic feature was individually predictive of short-term outcome. Seizure freedom was half as likely in participants with one or more seizure having the pattern of eye involvement without motor automatisms than in participants without this pattern. Almost all absence seizures are characterized by a pause in activity or staring, but rarely is this the only feature. Semiologic features tend to cluster, resulting in identifiable absence seizure subtypes with significant intraparticipant seizure phenomenologic heterogeneity. One seizure subtype, pause/stare and eye involvement but no motor automatisms, is specifically associated with a worse treatment outcome. © 2017 American Academy of Neurology.

  17. Learning skills and academic performance in children and adolescents with absence epilepsy.

    Science.gov (United States)

    Talero-Gutiérrez, C; Sánchez-Torres, J M; Velez-van-Meerbeke, A

    2015-03-01

    Although cognitive and learning disorders have been described in patients with epilepsy, very few studies focus on specific disorders such as absence epilepsy. The aim of this study was to evaluate learning skills and academic performance in children and adolescents with absence epilepsy. Observational case-control study. Cases were chosen from the Central League against Epilepsy's clinic in Bogotá, Colombia. Controls were selected from a private school and matched with cases by age, school year, and sex. Medical history, seizure frequency, antiepileptic treatment, and academic performance were assessed. Academic abilities were tested with Batería de Aptitudes Diferenciales y Generales (BADyG) (a Spanish-language test of differential and general aptitudes). Data were analysed using Student t-test. The sample consisted of 19 cases and 19 controls aged between 7 and 16. In 15 patients, seizures were controlled; all patients had received antiepileptic medication at some point and 78.9% were actively being treated. Although cases had higher rates of academic failure, a greater incidence of grade retention, and more therapeutic interventions than controls, these differences were not significant. Similarly, there were no significant differences on the BADyG test, except for the immediate memory subcategory on which cases scored higher than controls (P=.0006). Children treated pharmacologically for absence epilepsy, whose seizures are controlled, have normal academic abilities and skills for their age. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  18. Magnetic Resonance Spectroscopy of the Thalamus in Patients with Typical Absence Epilepsy

    Czech Academy of Sciences Publication Activity Database

    Fojtíková, D.; Brázdil, M.; Horký, Jaroslav; Mikl, M.; Kuba, R.; Krupa, P.; Rektor, I.

    2006-01-01

    Roč. 7, 2/Suppl. B (2006), B30 ISSN 1335-9592. [International Danube Symposium for Neurological Sciences and Continuing Education /38./. 06.04.2006-08.04.2006, Brno] Institutional research plan: CEZ:AV0Z20650511 Keywords : typical absence epilepsy * idiopathic generalized epilepsy * proton magnetic resonance spectroscopy * thalamus Subject RIV: FS - Medical Facilities ; Equipment

  19. Decreased ERp57 Expression in WAG/Rij Rats Thalamus and Cortex; Possible Correlation with Absence Epilepsy.

    Science.gov (United States)

    Sahin, Deniz; Karadenizli, Sabriye; Kasap, Murat; Oztas, Berrin; Kir, Hale Maral; Akpinar, Gurler; Ates, Nurbay

    2018-02-06

    The role of intracellular proteins in the pathogenesis of absence epilepsy were mentioned. These proteins are thought to be related to energy generation, signal transduction, inflammation processes and membrane conductance. The investigation of protein profile of the genetically epileptic rat brains was the main subject of this study. For this, a 2D-gel electrophoresis based comparative proteome analysis was performed using thalamus tissue of genetic absence epileptic WAG/Rij and age matched Wistar rats. Regulated spots displaying differences in their abundance were identified using MALDI-TOF/TOF. Among the six spots (DHRS9, BR44, HINT1, CREM, SPRE and PDIA3/ERp57) the highest mascot score was attributed to ERp57 a neuroprotective/neurodegenerative system associated protein. Western Blot analyses were performed to validate changes occurring at ERp57 in thalamus and also identify changes in fronto-parietal cortex. Reductions in the expression levels of ERp57 were detected in the thalamic and the fronto-parietal brain regions of the WAG/Rij rats in comparison to Wistar rats. Such difference might be associated with the pathogenic mechanisms dictating the absence epilepsy. Lower levels of ERp57 may be playing an important role in the development of spontaneous seizures activity seen in the absence epileptic WAG/Rij rats strain. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  20. Analysis of a case of drug-resistant childhood absence epilepsy concurrent with mysophobia

    Directory of Open Access Journals (Sweden)

    V. A. Karlov

    2017-01-01

    Full Text Available The article presents a case of childhood absence epilepsy concurrent with mysophobia, panic attacks, and the development of alternative psychosis in an accentuated girl with drug-induced remission of absence seizures and EEG changes.

  1. Attention impairment in childhood absence epilepsy: an impulsivity problem?

    Science.gov (United States)

    Cerminara, Caterina; D'Agati, Elisa; Casarelli, Livia; Kaunzinger, Ivo; Lange, Klaus W; Pitzianti, Mariabernarda; Parisi, Pasquale; Tucha, Oliver; Curatolo, Paolo

    2013-05-01

    Although attention problems have often been described in children with childhood absence epilepsy (CAE), the use of different methodological approaches, neuropsychological tests, and heterogeneous experimental groups has prevented identification of the selective areas of attention deficit in this population. In this study, we investigated several components of attention in children with CAE using a unique computerized test battery for attention performance. Participants included 24 patients with CAE and 24 controls matched for age and sex. They were tested with a computerized test battery, which included the following tasks: selective attention, impulsivity, focused attention, divided attention, alertness, and vigilance. Compared with healthy controls, patients with CAE made more commission errors in the Go/No-Go task and more omission errors in the divided attention task. Childhood absence epilepsy patients also showed decreased reaction times in measures of selective attention and a great variability of reaction times in alertness and Go/No-Go tasks. Our findings suggest that patients with CAE were impaired in tonic and phasic alertness, divided attention, selective attention, and impulsivity. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Clinical dissection of early onset absence epilepsy in children and prognostic implications.

    Science.gov (United States)

    Agostinelli, Sergio; Accorsi, Patrizia; Beccaria, Francesca; Belcastro, Vincenzo; Canevini, Maria Paola; Capovilla, Giuseppe; Cappanera, Silvia; Dalla Bernardina, Bernardo; Darra, Francesca; Del Gaudio, Luigi; Elia, Maurizio; Falsaperla, Raffaele; Giordano, Lucio; Gobbi, Giuseppe; Minetti, Carlo; Nicita, Francesco; Parisi, Pasquale; Pavone, Piero; Pezzella, Marianna; Sesta, Michela; Spalice, Alberto; Striano, Salvatore; Tozzi, Elisabetta; Traverso, Monica; Vari, Stella; Vignoli, Aglaia; Zamponi, Nelia; Zara, Federico; Striano, Pasquale; Verrotti, Alberto

    2013-10-01

    To investigate whether patients with typical absence seizures (TAS) starting in the first 3 years of life, conformed to Panayiotopoulos's definition of childhood absence epilepsy (CAE), show different electroclinical course than those not fulfilling CAE criteria. In this multicenter retrospective study, we choose a fixed duration follow-up of 36 months to examine the electroclinical course of epilepsy in all children with TAS starting before 3 years of age. The probands who fulfilled Panayiotopoulos's criteria for CAE were classified as having pure early onset absence epilepsy (P-EOAE), whereas those who did not as nonpure EOAE (NP-EOAE). In addition, these two groups of patients were further stratified according to the number of antiepileptic drugs taken to obtain initial seizure control (mono-, bi-, and tritherapy). Patients with P-EOAE (n = 111) showed earlier initial seizure control (p = 0.030) and better seizure-free survival curve (p = 0.004) than those with NP-EOAE (n = 77). No mutation in SLC2A1 gene or abnormal neuroimaging was observed in P-EOAE. Among patients with NP-EOAE, those receiving tritherapy showed increased risk of structural brain abnormalities (p = 0.001) or SLC2A1 mutations (p = 0.001) but fewer myoclonic features (p = 0.031) and worse seizure-free survival curve (p = 0.047) than those treated with mono- and bitherapy. Children with NP-EOAE had 2.134 the odds of having relapse during the follow-up compare to those with P-EOAE. Children with early onset TAS who did meet Panayiotopoulos's criteria showed a favorable course of epilepsy, whereas patients not fulfilling Panayiotopoulos's criteria showed increased risk of relapse at long-term follow-up. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  3. Subtle alterations in memory systems and normal visual attention in the GAERS model of absence epilepsy.

    Science.gov (United States)

    Marques-Carneiro, J E; Faure, J-B; Barbelivien, A; Nehlig, A; Cassel, J-C

    2016-03-01

    Even if considered benign, absence epilepsy may alter memory and attention, sometimes subtly. Very little is known on behavior and cognitive functions in the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model of absence epilepsy. We focused on different memory systems and sustained visual attention, using Non Epileptic Controls (NECs) and Wistars as controls. A battery of cognitive/behavioral tests was used. The functionality of reference, working, and procedural memory was assessed in the Morris water maze (MWM), 8-arm radial maze, T-maze and/or double-H maze. Sustained visual attention was evaluated in the 5-choice serial reaction time task. In the MWM, GAERS showed delayed learning and less efficient working memory. In the 8-arm radial maze and T-maze tests, working memory performance was normal in GAERS, although most GAERS preferred an egocentric strategy (based on proprioceptive/kinesthetic information) to solve the task, but could efficiently shift to an allocentric strategy (based on spatial cues) after protocol alteration. Procedural memory and visual attention were mostly unimpaired. Absence epilepsy has been associated with some learning problems in children. In GAERS, the differences in water maze performance (slower learning of the reference memory task and weak impairment of working memory) and in radial arm maze strategies suggest that cognitive alterations may be subtle, task-specific, and that normal performance can be a matter of strategy adaptation. Altogether, these results strengthen the "face validity" of the GAERS model: in humans with absence epilepsy, cognitive alterations are not easily detectable, which is compatible with subtle deficits. Copyright © 2016 IBRO. Published by Elsevier Ltd. All rights reserved.

  4. Interictal cardiorespiratory variability in temporal lobe and absence epilepsy in childhood.

    Science.gov (United States)

    Varon, Carolina; Montalto, Alessandro; Jansen, Katrien; Lagae, Lieven; Marinazzo, Daniele; Faes, Luca; Van Huffel, Sabine

    2015-04-01

    It is well known that epilepsy has a profound effect on the autonomic nervous system, especially on the autonomic control of heart rate and respiration. This effect has been widely studied during seizure activity, but less attention has been given to interictal (i.e. seizure-free) activity. The studies that have been done on this topic, showed that heart rate and respiration can be affected individually, even without the occurrence of seizures. In this work, the interactions between these two individual physiological variables are analysed during interictal activity in temporal lobe and absence epilepsy in childhood. These interactions are assessed by decomposing the predictive information about heart rate variability, into different components like the transfer entropy, cross-entropy, self- entropy and the conditional self entropy. Each one of these components quantifies different types of shared information. However, when using the cross-entropy and the conditional self entropy, it is possible to split the information carried by the heart rate, into two main components, one related to respiration and one related to different mechanisms, like sympathetic activation. This can be done after assuming a directional link going from respiration to heart rate. After analysing all the entropy components, it is shown that in subjects with absence epilepsy the information shared by respiration and heart rate is significantly lower than for normal subjects. And a more remarkable finding indicates that this type of epilepsy seems to have a long term effect on the cardiac and respiratory control mechanisms of the autonomic nervous system.

  5. The WAG/Rij strain: a genetic animal model of absence epilepsy with comorbidity of depression [corrected].

    Science.gov (United States)

    Sarkisova, Karine; van Luijtelaar, Gilles

    2011-06-01

    A great number of clinical observations show a relationship between epilepsy and depression. Idiopathic generalized epilepsy, including absence epilepsy, has a genetic basis. The review provides evidence that WAG/Rij rats can be regarded as a valid genetic animal model of absence epilepsy with comorbidity of depression. WAG/Rij rats, originally developed as an animal model of human absence epilepsy, share many EEG and behavioral characteristics resembling absence epilepsy in humans, including the similarity of action of various antiepileptic drugs. Behavioral studies indicate that WAG/Rij rats exhibit depression-like symptoms: decreased investigative activity in the open field test, increased immobility in the forced swimming test, and decreased sucrose consumption and preference (anhedonia). In addition, WAG/Rij rats adopt passive strategies in stressful situations, express some cognitive disturbances (reduced long-term memory), helplessness, and submissiveness, inability to make choice and overcome obstacles, which are typical for depressed patients. Elevated anxiety is not a characteristic (specific) feature of WAG/Rij rats; it is a characteristic for only a sub-strain of WAG/Rij rats susceptible to audiogenic seizures. Interestingly, WAG/Rij rats display a hyper-response to amphetamine similar to anhedonic depressed patients. WAG/Rij rats are sensitive only to chronic, but not acute, antidepressant treatments, suggesting that WAG/Rij rats fulfill a criterion of predictive validity for a putative animal model of depression. However, more and different antidepressant drugs still await evaluation. Depression-like behavioral symptoms in WAG/Rij rats are evident at baseline conditions, not exclusively after stress. Experiments with foot-shock stress do not point towards higher stress sensitivity at both behavioral and hormonal levels. However, freezing behavior (coping deficits) and blunted response of 5HT in the frontal cortex to uncontrollable sound stress

  6. Modeling pathogenesis and treatment response in childhood absence epilepsy.

    Science.gov (United States)

    Knox, Andrew T; Glauser, Tracy; Tenney, Jeffrey; Lytton, William W; Holland, Katherine

    2018-01-01

    Childhood absence epilepsy (CAE) is a genetic generalized epilepsy syndrome with polygenic inheritance, with genes for γ-aminobutyric acid (GABA) receptors and T-type calcium channels implicated in the disorder. Previous studies of T-type calcium channel electrophysiology have shown genetic changes and medications have multiple effects. The aim of this study was to use an established thalamocortical computer model to determine how T-type calcium channels work in concert with cortical excitability to contribute to pathogenesis and treatment response in CAE. The model is comprised of cortical pyramidal, cortical inhibitory, thalamocortical relay, and thalamic reticular single-compartment neurons, implemented with Hodgkin-Huxley model ion channels and connected by AMPA, GABA A , and GABA B synapses. Network behavior was simulated for different combinations of T-type calcium channel conductance, inactivation time, steady state activation/inactivation shift, and cortical GABA A conductance. Decreasing cortical GABA A conductance and increasing T-type calcium channel conductance converted spindle to spike and wave oscillations; smaller changes were required if both were changed in concert. In contrast, left shift of steady state voltage activation/inactivation did not lead to spike and wave oscillations, whereas right shift reduced network propensity for oscillations of any type. These results provide a window into mechanisms underlying polygenic inheritance in CAE, as well as a mechanism for treatment effects and failures mediated by these channels. Although the model is a simplification of the human thalamocortical network, it serves as a useful starting point for predicting the implications of ion channel electrophysiology in polygenic epilepsy such as CAE. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  7. Epilepsy with myoclonic absences - favourable response to add-on rufinamide treatment in 3 cases

    DEFF Research Database (Denmark)

    Häusler, M; Kluger, G; Nikanorova, M

    2011-01-01

    Epilepsy with myoclonic absences (EMA) is a rare epileptic syndrome with frequently poor response to antiepileptic treatment. Rufinamide (RUF) is a relatively new EMEA- and FDA-approved anticonvulsant licensed as an orphan drug for the adjunctive treatment of patients with Lennox-Gastaut syndrome....

  8. Intravenous lacosamide for treatment of absence status epilepticus in genetic generalized epilepsy: A case report and review of literature.

    Science.gov (United States)

    Reif, P S; Männer, A; Willems, L M; Kay, L; Zöllner, J P; Klein, K M; Rosenow, F; Strzelczyk, A

    2018-04-06

    Nearly 10 years after its introduction into the market, the significance of lacosamide in genetic generalized epilepsies is still unclear. Its new mode of action may qualify lacosamide as a therapeutic agent in this entity, but only a limited number of cases have been published so far. To describe the efficacy of lacosamide as treatment in a patient with the absence status epilepticus. We report on a 28-year-old woman with genetic generalized epilepsy who suffered recurrent absence status epilepticus during video-EEG-monitoring. After treatment failure of first- and second-line medication, lacosamide was administered. The outcome in this patient was evaluated, and a systematic literature review was performed for the use of lacosamide in the absence status epilepticus. After application of 400 mg lacosamide intravenously, the absence status epilepticus terminated within 30 minutes. No further seizures or epileptiform discharges reoccurred until the end of video-EEG-Monitoring 3 days later. The role of lacosamide as a therapeutic option in patients with the absence status epilepticus is unclear. Only two cases have been reported so far with conflicting results. Further randomized controlled studies are required to validate the relevance of lacosamide as treatment for status epilepticus in genetic generalized and the absence epilepsy. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. A role for the preoptic sleep-promoting system in absence epilepsy

    OpenAIRE

    Suntsova, N.; Kumar, S.; Guzman-Marin, R.; Alam, M. N.; Szymusiak, R.; McGinty, D.

    2009-01-01

    Absence epilepsy (AE) in humans and the genetic AE model in WAG/Rij rats are both associated with abnormalities in sleep architecture that suggest insufficiency of the sleep-promoting mechanisms. In this study we compared the functionality of sleep-active neuronal groups within two well-established sleep-promoting sites, the ventrolateral and median preoptic nuclei (VLPO and MnPN, respectively), in WAG/Rij and control rats. Neuronal activity was assessed using c-Fos immunoreactivity and chron...

  10. Time-frequency dynamics during sleep spindles on the EEG in rodents with a genetic predisposition to absence epilepsy (WAG/Rij rats)

    Science.gov (United States)

    Hramov, Alexander E.; Sitnikova, Evgenija Y.; Pavlov, Alexey N.; Grubov, Vadim V.; Koronovskii, Alexey A.; Khramova, Marina V.

    2015-03-01

    Sleep spindles are known to appear spontaneously in the thalamocortical neuronal network of the brain during slow-wave sleep; pathological processes in the thalamocortical network may be the reason of the absence epilepsy. The aim of the present work is to study developed changes in the time-frequency structure of sleep spindles during the progressive development of the absence epilepsy in WAG/Rij rats. EEG recordings were made at age 7 and 9 months. Automatic recognition and subsequent analysis of sleep spindles on the EEG were performed using the continuous wavelet transform. The duration of epileptic discharges and the total duration of epileptic activity were found to increase with age, while the duration of sleep spindles, conversely, decreased. In terms of the mean frequency, sleep spindles could be divided into three classes: `slow' (mean frequency 9.3Hz), `medium' (11.4Hz), and `fast' (13.5Hz). Slow and medium (transitional) spindles in five-month-old animals showed increased frequency from the beginning to the end of the spindle. The more intense the epilepsy is, the shorter are the durations of spindles of all types. The mean frequencies of `medium' and `fast' spindles were higher in rats with more intense signs of epilepsy. Overall, high epileptic activity in WAG/Rij rats was linked with significant changes in spindles of the transitional type, with less marked changes in the two traditionally identified types of spindle, slow and fast.

  11. Hormones and absence epilepsy

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Tolmacheva, E.A.; Budziszewska, B.; Stein, J.

    2017-01-01

    Hormones have an extremely large impact on seizures and epilepsy. Stress and stress hormones are known to reinforce seizure expression, and gonadal hormones affect the number of seizures and even the seizure type. Moreover, hormonal concentrations change drastically over an individual's lifetime,

  12. A brief history of typical absence seizures - Petit mal revisited.

    Science.gov (United States)

    Brigo, Francesco; Trinka, Eugen; Lattanzi, Simona; Bragazzi, Nicola Luigi; Nardone, Raffaele; Martini, Mariano

    2018-03-01

    In this article, we have traced back the history of typical absence seizures, from their initial clinical description to the more recent nosological position. The first description of absence seizures was made by Poupart in 1705 and Tissot in 1770. In 1824, Calmeil introduced the term "absences", and in 1838, Esquirol for the first time used the term petit mal. Reynolds instead used the term "epilepsia mitior" (milder epilepsy) and provided a comprehensive description of absence seizures (1861). In 1854, Delasiauve ranked absences as the seizure type with lower severity and introduced the concept of idiopathic epilepsy. Otto Binswanger (1899) discussed the role of cortex in the pathophysiology of "abortive seizures", whereas William Gowers (1901) emphasized the importance of a detailed clinical history to identify nonmotor seizures or very mild motor phenomena which otherwise may go unnoticed or considered not epileptic. At the beginning of the 20th Century, the term pyknolepsy was introduced, but initially was not universally considered as a type of epilepsy; it was definitely recognized as an epileptic entity only in 1945, based on electroencephalogram (EEG) recordings. Hans Berger, the inventor of the EEG, made also the first EEG recording of an atypical absence (his results were published only in 1933), whereas the characteristic EEG pattern was reported by neurophysiologists of the Harvard Medical School in 1935. The discovery of EEG made it also possible to differentiate absence seizures from so called "psychomotor" seizures occurring in temporal lobe epilepsy. Penfield and Jasper (1938) considered absences as expression of "centrencephalic epilepsy". Typical absences seizures are now classified by the International League Against Epilepsy among generalized nonmotor (absence) seizures. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. On-off intermittency in time series of spontaneous paroxysmal activity in rats with genetic absence epilepsy

    International Nuclear Information System (INIS)

    Hramov, Alexander; Koronovskii, Alexey A.; Midzyanovskaya, I.S.; Sitnikova, E.; Rijn, C.M. van

    2006-01-01

    In the present paper we consider the on-off intermittency phenomena observed in time series of spontaneous paroxysmal activity in rats with genetic absence epilepsy. The method to register and analyze the electroencephalogram with the help of continuous wavelet transform is also suggested

  14. Using recurrence plot for determinism analysis of EEG recordings in genetic absence epilepsy rats.

    Science.gov (United States)

    Ouyang, Gaoxiang; Li, Xiaoli; Dang, Chuangyin; Richards, Douglas A

    2008-08-01

    Understanding the transition of brain activity towards an absence seizure is a challenging task. In this paper, we use recurrence quantification analysis to indicate the deterministic dynamics of EEG series at the seizure-free, pre-seizure and seizure states in genetic absence epilepsy rats. The determinism measure, DET, based on recurrence plot, was applied to analyse these three EEG datasets, each dataset containing 300 single-channel EEG epochs of 5-s duration. Then, statistical analysis of the DET values in each dataset was carried out to determine whether their distributions over the three groups were significantly different. Furthermore, a surrogate technique was applied to calculate the significance level of determinism measures in EEG recordings. The mean (+/-SD) DET of EEG was 0.177+/-0.045 in pre-seizure intervals. The DET values of pre-seizure EEG data are significantly higher than those of seizure-free intervals, 0.123+/-0.023, (Pdeterminism in EEG epochs was present in 25 of 300 (8.3%), 181 of 300 (60.3%) and 289 of 300 (96.3%) in seizure-free, pre-seizure and seizure intervals, respectively. Results provide some first indications that EEG epochs during pre-seizure intervals exhibit a higher degree of determinism than seizure-free EEG epochs, but lower than those in seizure EEG epochs in absence epilepsy. The proposed methods have the potential of detecting the transition between normal brain activity and the absence seizure state, thus opening up the possibility of intervention, whether electrical or pharmacological, to prevent the oncoming seizure.

  15. Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.

    Science.gov (United States)

    Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasquale; Nicoletti, Ferdinando

    2017-11-01

    Thrombospondins, which are known to interact with the α 2 δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether expression of the gene encoding for thrombospondin-1 was altered in the brain of WAG/Rij rats, which model absence epilepsy in humans. In addition, we examined the frequency of genetic variants of THBS1 in a large cohort of children affected by idiopathic/genetic generalized epilepsies (IGE/GGEs). We measured the transcripts of thrombospondin-1 and α 2 δ subunit, and protein levels of α 2 δ, Rab3A, and the vesicular glutamate transporter, VGLUT1, in the somatosensory cortex and ventrobasal thalamus of presymptomatic and symptomatic WAG/Rij rats and in two control strains by real-time polymerase chain reaction (PCR) and immunoblotting. We examined the genetic variants of THBS1 and CACNA2D1 in two independent cohorts of patients affected by IGE/GGE recruited through the Genetic Commission of the Italian League Against Epilepsy (LICE) and the EuroEPINOMICS-CoGIE Consortium. Thrombospondin-1 messenger RNA (mRNA) levels were largely reduced in the ventrobasal thalamus of both presymptomatic and symptomatic WAG/Rij rats, whereas levels in the somatosensory cortex were unchanged. VGLUT1 protein levels were also reduced in the ventrobasal thalamus of WAG/Rij rats. Genetic variants of THBS1 were significantly more frequent in patients affected by IGE/GGE than in nonepileptic controls, whereas the frequency of CACNA2D1 was unchanged. These findings suggest that thrombospondin-1 may have a role in the pathogenesis of IGE/GGEs. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  16. Guidelines for imaging infants and children with recent-onset epilepsy

    International Nuclear Information System (INIS)

    Gaillard, W.D.; Chiron, C.; Cross, H.; Harvey, S.; Kuzniecky, R.; Hertz-Pannier, L.

    2009-01-01

    The International League Against Epilepsy (ILAE) Subcommittee for Pediatric Neuroimaging examined the usefulness of, and indications for, neuroimaging in the evaluation of children with newly diagnosed epilepsy. The retrospective and prospective published series with n ≥ 30 utilizing computed tomography (CT) and magnetic resonance imaging (MRI) (1.5 T) that evaluated children with new-onset seizure(s) were reviewed. Nearly 50% of individual imaging studies in children with localization-related new-onset seizure(s) were reported to be abnormal; 15-20% of imaging studies provided useful information on etiology or and seizure focus, and 2-4% provided information that potentially altered immediate medical management. A significant imaging abnormality in the absence of a history of a localization-related seizure, abnormal neurologic examination, or focal electro-encephalography (EEG) is rare. Imaging studies in childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and benign childhood epilepsy with centro-temporal spikes (BECTS) do not identify significant structural abnormalities. Imaging provides important contributions to establishing etiology, providing prognostic information, and directing treatment in children with recently diagnosed epilepsy. Imaging is recommended when localization-related epilepsy is known or suspected, when the epilepsy classification is in doubt, or when an epilepsy syndrome with remote symptomatic cause is suspected. When available, MRI is preferred to CT because of its superior resolution, versatility, and lack of radiation. (authors)

  17. Guidelines for imaging infants and children with recent-onset epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Gaillard, W.D. [Department of Neuroscience, Children' s National Medical Center, George Washington University, Washington DC (United States); Chiron, C. [Inserm, Hopital Necker-Enfants Malades, Universite Rene Descartes, Paris (France); Cross, H. [Neurosciences Unit, Institute of Child Health, and GreatOrmondStreet Hospital for Children, London (United Kingdom); Harvey, S. [Department of Neurology, Royal Children' s Hospital, University of Melbourne, Melbourne (Australia); Kuzniecky, R. [Department of Neurology, New York University School of Medicine, New York, NY (US); Hertz-Pannier, L. [Department of Radiology, Hopital Necker-Enfants Malades, Universite Descartes, Paris (FR); CEA-DSV-I2BM-Neurospin, 91191 Gif sur Yvette (FR)

    2009-07-01

    The International League Against Epilepsy (ILAE) Subcommittee for Pediatric Neuroimaging examined the usefulness of, and indications for, neuroimaging in the evaluation of children with newly diagnosed epilepsy. The retrospective and prospective published series with n {>=} 30 utilizing computed tomography (CT) and magnetic resonance imaging (MRI) (1.5 T) that evaluated children with new-onset seizure(s) were reviewed. Nearly 50% of individual imaging studies in children with localization-related new-onset seizure(s) were reported to be abnormal; 15-20% of imaging studies provided useful information on etiology or and seizure focus, and 2-4% provided information that potentially altered immediate medical management. A significant imaging abnormality in the absence of a history of a localization-related seizure, abnormal neurologic examination, or focal electro-encephalography (EEG) is rare. Imaging studies in childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and benign childhood epilepsy with centro-temporal spikes (BECTS) do not identify significant structural abnormalities. Imaging provides important contributions to establishing etiology, providing prognostic information, and directing treatment in children with recently diagnosed epilepsy. Imaging is recommended when localization-related epilepsy is known or suspected, when the epilepsy classification is in doubt, or when an epilepsy syndrome with remote symptomatic cause is suspected. When available, MRI is preferred to CT because of its superior resolution, versatility, and lack of radiation. (authors)

  18. TYPICAL ABSENCES: RESULTS OF OWN INVESTIGATIONS

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available Typical absences (TA are brief primary generalized epileptic seizures characterized by sudden onset and termination. According to their definition, absences consist of impairment of consciousness that is synchronously accompanied by electroencephalographic (EEG changes as generalized spike–slow wave discharges of 3 or more Hz. The authors conducted an investigation of 1261 patients with different forms of epilepsy with onset of seizures from the first days of life to the age of 18 years. The patients were followed up from 1990 to 2010. Absence seizures were detected in 231 patients, which accounts for 18.3 % of all the epileptic patients. TA were found in 102 patients, which constitutes 8.1 % of all cases of epilepsy with onset of seizures beyond the age of 18 years. The paper provides a detailed analysis of a group of patients with TA in terms of anamnestic, clinical, electroencephalographic, and neuroimaging features and the results of therapy with antiepileptic drugs (AEDs. The age of onset of TA-associated epilepsy was from 9 months to 17 years (mean 9.4 ± 4.06 years. The disease occurred most frequently in young school-age children (41.2 %. Isolated TA as the only type of seizures were observed in the clinical picture of 28 (27.5 % patients. TA were concurrent with other types of seizures in other cases. The investigators have identified 4 types of seizures which TA (generalized convulsions, myoclonic seizures, febrile seizures, and eyelid myoclonia may be concurrent with. Neuroimaging stated there were no brain changes in 85.3 % of TA-associated epilepsy cases. Moderate diffuse subatrophic changes were detected in other cases (14.7 %. Local cerebral structural abnormalities were absent. The use of antiepileptic therapy as both monotherapy and polytherapy using different combinations showed the high efficacy of AEDs. Complete remission was achieved in 84.3 % of TA-associated epilepsy cases. An AED-induced reduction in the frequency of

  19. Absence seizure

    Science.gov (United States)

    Seizure - petit mal; Seizure - absence; Petit mal seizure; Epilepsy - absence seizure ... Elsevier; 2016:chap 101. Marcdante KJ, Kliegman RM. Seizures (paroxysmal disorders). In: Marcdante KJ, Kliegman RM, eds. Nelson Essentials ...

  20. Identifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm

    Directory of Open Access Journals (Sweden)

    Wei Guo

    2017-01-01

    Full Text Available As a pathological condition, epilepsy is caused by abnormal neuronal discharge in brain which will temporarily disrupt the cerebral functions. Epilepsy is a chronic disease which occurs in all ages and would seriously affect patients’ personal lives. Thus, it is highly required to develop effective medicines or instruments to treat the disease. Identifying epilepsy-related genes is essential in order to understand and treat the disease because the corresponding proteins encoded by the epilepsy-related genes are candidates of the potential drug targets. In this study, a pioneering computational workflow was proposed to predict novel epilepsy-related genes using the random walk with restart (RWR algorithm. As reported in the literature RWR algorithm often produces a number of false positive genes, and in this study a permutation test and functional association tests were implemented to filter the genes identified by RWR algorithm, which greatly reduce the number of suspected genes and result in only thirty-three novel epilepsy genes. Finally, these novel genes were analyzed based upon some recently published literatures. Our findings implicate that all novel genes were closely related to epilepsy. It is believed that the proposed workflow can also be applied to identify genes related to other diseases and deepen our understanding of the mechanisms of these diseases.

  1. A role for the preoptic sleep-promoting system in absence epilepsy.

    Science.gov (United States)

    Suntsova, N; Kumar, S; Guzman-Marin, R; Alam, M N; Szymusiak, R; McGinty, D

    2009-10-01

    Absence epilepsy (AE) in humans and the genetic AE model in WAG/Rij rats are both associated with abnormalities in sleep architecture that suggest insufficiency of the sleep-promoting mechanisms. In this study we compared the functionality of sleep-active neuronal groups within two well-established sleep-promoting sites, the ventrolateral and median preoptic nuclei (VLPO and MnPN, respectively), in WAG/Rij and control rats. Neuronal activity was assessed using c-Fos immunoreactivity and chronic single-unit recording techniques. We found that WAG/Rij rats exhibited a lack of sleep-associated c-Fos activation of GABAergic MnPN and VLPO neurons, a lower percentage of MnPN and VLPO cells increasing discharge during sleep and reduced firing rates of MnPN sleep-active neurons, compared to non-epileptic rats. The role of sleep-promoting mechanisms in pathogenesis of absence seizures was assessed in non-epileptic rats using electrical stimulation and chemical manipulations restricted to the MnPN. We found that fractional activation of the sleep-promoting system in waking was sufficient to elicit absence-like seizures. Given that reciprocally interrelated sleep-promoting and arousal neuronal groups control thalamocortical excitability, we hypothesize that malfunctioning of sleep-promoting system results in impaired ascending control over thalamocortical rhythmogenic mechanisms during wake-sleep transitions thus favoring aberrant thalamocortical oscillations. Our findings suggest a pathological basis for AE-associated sleep abnormalities and a mechanism underlying association of absence seizures with wake-sleep transitions.

  2. EPILEPSY IN RURAL SOUTH AFRICAN CHILDREN ...

    African Journals Online (AJOL)

    . A L Christianson, FRCP .... absence of an identified acute brain or systemic insult. However, they could ... Table L Age and sex of children with epilepsy. Prevalence1 ... Differences that exist between studies include those associated with the ...

  3. Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy.

    Science.gov (United States)

    Sha, Zhiqiang; Sha, Longze; Li, Wenting; Dou, Wanchen; Shen, Yan; Wu, Liwen; Xu, Qi

    2015-03-30

    Mesial temporal lobe epilepsy (mTLE) is the main type and most common medically intractable form of epilepsy. Severity of disease-based stratified samples may help identify new disease-associated mutant genes. We analyzed mRNA expression profiles from patient hippocampal tissue. Three of the seven patients had severe mTLE with generalized-onset convulsions and consciousness loss that occurred over many years. We found that compared with other groups, patients with severe mTLE were classified into a distinct group. Whole-exome sequencing and Sanger sequencing validation in all seven patients identified three novel SUN domain-containing ossification factor (SUCO) mutations in severely affected patients. Furthermore, SUCO knock down significantly reduced dendritic length in vitro. Our results indicate that mTLE defects may affect neuronal development, and suggest that neurons have abnormal development due to lack of SUCO, which may be a generalized-onset epilepsy-related gene. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  4. Predictors of intractable childhood epilepsy

    International Nuclear Information System (INIS)

    Malik, M.A.; Ahmed, T.M.

    2008-01-01

    To determine the prognosis of seizures in epileptic children and identify early predictors of intractable childhood epilepsy. All children (aged 1 month to 16 years) with idiopathic or cryptogenic epilepsy who were treated and followed at the centre during the study period were included. The patients who had marked seizures even after two years of adequate treatment were labeled as intractable epileptics (cases). Children who had no seizure for more than one year at last follow-up visit were the controls. Adequate treatment was described as using at least three anti-epileptic agents either alone or in combination with proper compliance and dosage. Records of these patients were reviewed to identify the variables that may be associated with seizure intractability. Of 442 epileptic children, 325 (74%) intractable and 117 (26%) control epileptics were included in the study. Male gender (OR=3.92), seizures onset in infancy >10 seizures before starting treatment (OR=3.76), myoclonic seizures (OR=1.37), neonatal seizures (OR=3.69), abnormal EEG (OR=7.28) and cryptogenic epilepsy (OR=9.69) and head trauma (OR=4.07) were the factors associated with intractable epilepsy. Seizure onset between 5-7 years of age, idiopathic epilepsy, and absence seizures were associated with favourable prognosis in childhood epilepsy. Intractable childhood epilepsy is expected if certain risk factors such as type, age of onset, gender and cause of epilepsy are found. Early referral of such patients to the specialized centres is recommended for prompt and optimal management. (author)

  5. Electroencephalographic precursors of spike-wave discharges in a genetic rat model of absence epilepsy: Power spectrum and coherence EEG analyses

    NARCIS (Netherlands)

    Sitnikova, E.Y.; Luijtelaar, E.L.J.M. van

    2009-01-01

    Periods in the electroencephalogram (EEG) that immediately precede the onset of spontaneous spike-wave discharges (SWD) were examined in WAG/Rij rat model of absence epilepsy. Precursors of SWD (preSWD) were classified based on the distribution of EEG power in delta-theta-alpha frequency bands as

  6. Detection of Paroxysms in Long-Term, Single Channel EEG-Monitoring of Patients with Typical Absence Seizures

    DEFF Research Database (Denmark)

    Kjær, Troels W.; Sørensen, Helge Bjarup Dissing; Groenborg, Sabine

    2017-01-01

    -recorders identifying paroxystic events in epilepsy outpatients are a promising tool for patients and physicians dealing with absence epilepsy. Albeit the small size of the EEG-device, some children still complained about the obtrusive nature of the device. We aim at developing less obtrusive though still very...

  7. Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

    Science.gov (United States)

    Chipaux, Mathilde; Szurhaj, William; Vercueil, Laurent; Milh, Mathieu; Villeneuve, Nathalie; Cances, Claude; Auvin, Stéphane; Chassagnon, Serge; Napuri, Sylvia; Allaire, Catherine; Derambure, Philippe; Marchal, Cécile; Caubel, Isabelle; Ricard-Mousnier, Brigitte; N'Guyen The Tich, Sylvie; Pinard, Jean-Marc; Bahi-Buisson, Nadia; de Baracé, Claire; Kahane, Philippe; Gautier, Agnès; Hamelin, Sophie; Coste-Zeitoun, Delphine; Rosenberg, Sarah-Dominique; Clerson, Pierre; Nabbout, Rima; Kuchenbuch, Mathieu; Picot, Marie-Christine; Kaminska, Anna

    2016-05-01

    To obtain perspective on epilepsy in patients referred to tertiary centers in France, and describe etiology, epilepsy syndromes, and identify factors of drug resistance and comorbidities. We performed a cross-sectional analysis of the characteristics of 5,794 pediatric and adult patients with epilepsy included in a collaborative database in France between 2007 and 2013. Comparisons between groups used Student's t-test or Fisher's exact test for binary or categorical variables. Factors associated with drug resistance and intellectual disability were evaluated in multi-adjusted logistic regression models. Mean age at inclusion was 17.9 years; children accounted for 67%. Epilepsy was unclassified in 20% of patients, and etiology was unknown in 65%, including those with idiopathic epilepsies. Etiologies differed significantly in adult- when compared to pediatric-onset epilepsy; however, among focal structural epilepsies, mesial temporal lobe epilepsy with hippocampal sclerosis began as often in the pediatric as in adult age range. Drug resistance concerned 53% of 4,210 patients evaluable for seizure control and was highest in progressive myoclonic epilepsy (89%), metabolic diseases (84%), focal cortical dysplasia (70%), other cortical malformations (69%), and mesial temporal lobe epilepsy with hippocampal sclerosis (67%). Fifty-nine percent of patients with focal structural epilepsy and 69% with epileptic encephalopathies were drug resistant; however, 40-50% of patients with West syndrome and epileptic encephalopathy with continuous spike-and-waves during sleep were seizure-free. Ages at onset in infancy and in young adults shared the highest risk of drug resistance. Epilepsy onset in infancy comprised the highest risk of intellectual disability, whereas specific cognitive impairment affected 36% of children with idiopathic focal epilepsy. Our study provides a snapshot on epilepsy in patients referred to tertiary centers and discloses needs for diagnosis and treatment

  8. Attention Contributes to Arithmetic Deficits in New-Onset Childhood Absence Epilepsy.

    Science.gov (United States)

    Cheng, Dazhi; Yan, Xiuxian; Gao, Zhijie; Xu, Keming; Chen, Qian

    2017-01-01

    Neuropsychological studies indicate that new-onset childhood absence epilepsy (CAE) is associated with deficits in attention and executive functioning. However, the contribution of these deficits to impaired academic performance remains unclear. We aimed to examine whether attention and executive functioning deficits account for the academic difficulties prevalent in patients with new-onset CAE. We analyzed cognitive performance in several domains, including language, mathematics, psychomotor speed, spatial ability, memory, general intelligence, attention, and executive functioning, in 35 children with new-onset CAE and 33 control participants. Patients with new-onset CAE exhibited deficits in mathematics, general intelligence, attention, and executive functioning. Furthermore, attention deficits, as measured by a visual tracing task, accounted for impaired arithmetic performance in the new-onset CAE group. Therefore, attention deficits, rather than impaired general intelligence or executive functioning, may be responsible for arithmetic performance deficits in patients with new-onset CAE.

  9. Depressive-like behavioral alterations and c-fos expression in the dopaminergic brain regions in wag/rij rats with genetic absence epilepsy

    NARCIS (Netherlands)

    Sarkisova, K.Y.; Midzyanovskaya, I.S.; Kulikov, M.A.; Luijtelaar, E.L.J.M. van; Luijtelaar, E.L.J.M. van; Kuznetsova, G.D.; Coenen, A.M.L.; Chepurnov, S.A.

    2004-01-01

    A Wistar derived inbred line, the WAG/Rij rats, genetically absence epilepsy prone, and their normal counterparts, outbred Wistar rats, were compared in respect to differences in behavior, in acute and chronic antidepressant imipramine treatment and in the immediate early gene c-fos expression in

  10. The cortical focus in childhood absence epilepsy; evidence from nonlinear analysis of scalp EEG recordings.

    Science.gov (United States)

    Sarrigiannis, Ptolemaios G; Zhao, Yifan; He, Fei; Billings, Stephen A; Baster, Kathleen; Rittey, Chris; Yianni, John; Zis, Panagiotis; Wei, Hualiang; Hadjivassiliou, Marios; Grünewald, Richard

    2018-03-01

    To determine the origin and dynamic characteristics of the generalised hyper-synchronous spike and wave (SW) discharges in childhood absence epilepsy (CAE). We applied nonlinear methods, the error reduction ratio (ERR) causality test and cross-frequency analysis, with a nonlinear autoregressive exogenous (NARX) model, to electroencephalograms (EEGs) from CAE, selected with stringent electro-clinical criteria (17 cases, 42 absences). We analysed the pre-ictal and ictal strength of association between homologous and heterologous EEG derivations and estimated the direction of synchronisation and corresponding time lags. A frontal/fronto-central onset of the absences is detected in 13 of the 17 cases with the highest ictal strength of association between homologous frontal followed by centro-temporal and fronto-central areas. Delays consistently in excess of 4 ms occur at the very onset between these regions, swiftly followed by the emergence of "isochronous" (0-2 ms) synchronisation but dynamic time lag changes occur during SW discharges. In absences an initial cortico-cortical spread leads to dynamic lag changes to include periods of isochronous interhemispheric synchronisation, which we hypothesize is mediated by the thalamus. Absences from CAE show ictal epileptic network dynamics remarkably similar to those observed in WAG/Rij rats which guided the formulation of the cortical focus theory. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  11. Feasibility of a mobile cognitive intervention in childhood absence epilepsy

    Directory of Open Access Journals (Sweden)

    Peter Glynn

    2016-11-01

    Full Text Available Children with childhood absence epilepsy (CAE frequently present with cognitive comorbidities and school performance concerns. The present study evaluated the feasibility of an intervention for such comorbidities using a mobile cognitive therapy application on an iPad. Eight children with CAE and school concerns aged 7-11 participated in a four-week intervention. They were asked to use the application for 80 minutes per week (20 minutes/day, 4 times/week. Parents and children completed satisfaction surveys regarding the application. Participants were evaluated before and after the intervention using the Cognitive Domain of the NIH Toolbox and by parental completion of the Behavioral Rating Inventory of Executive Function (BRIEF. All eight patients completed the study, using the iPad for an average of 78 minutes/week. Children and parents reported high satisfaction with the application. Though a demonstration of efficacy was not the focus of the study, performance improvements were noted on a processing speed task and on a measure of fluid intelligence. An iPad based cognitive therapy was found to be a feasible intervention for children with CAE.

  12. Seizure semiology identifies patients with bilateral temporal lobe epilepsy.

    Science.gov (United States)

    Loesch, Anna Mira; Feddersen, Berend; Tezer, F Irsel; Hartl, Elisabeth; Rémi, Jan; Vollmar, Christian; Noachtar, Soheyl

    2015-01-01

    Laterality in temporal lobe epilepsy is usually defined by EEG and imaging results. We investigated whether the analysis of seizure semiology including lateralizing seizure phenomena identifies bilateral independent temporal lobe seizure onset. We investigated the seizure semiology in 17 patients in whom invasive EEG-video-monitoring documented bilateral temporal seizure onset. The results were compared to 20 left and 20 right consecutive temporal lobe epilepsy (TLE) patients who were seizure free after anterior temporal lobe resection. The seizure semiology was analyzed using the semiological seizure classification with particular emphasis on the sequence of seizure phenomena over time and lateralizing seizure phenomena. Statistical analysis included chi-square test or Fisher's exact test. Bitemporal lobe epilepsy patients had more frequently different seizure semiology (100% vs. 40%; p<0.001) and significantly more often lateralizing seizure phenomena pointing to bilateral seizure onset compared to patients with unilateral TLE (67% vs. 11%; p<0.001). The sensitivity of identical vs. different seizure semiology for the identification of bilateral TLE was high (100%) with a specificity of 60%. Lateralizing seizure phenomena had a low sensitivity (59%) but a high specificity (89%). The combination of lateralizing seizure phenomena and different seizure semiology showed a high specificity (94%) but a low sensitivity (59%). The analysis of seizure semiology including lateralizing seizure phenomena adds important clinical information to identify patients with bilateral TLE. Copyright © 2014 Elsevier B.V. All rights reserved.

  13. When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.

    Science.gov (United States)

    Dixit, Abhijit; Suri, Mohnish

    2016-04-01

    Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  14. Role of genetics in the etiopathogenesis of genetic generalized epilepsy: A review of current literature

    Directory of Open Access Journals (Sweden)

    S A Balarabe

    2016-01-01

    Full Text Available Until recently, genetic generalized epilepsy (GGE was believed to be of presumed genetic etiology with no identifiable genetic mutation or demonstrable epigenetic abnormality. A wide range of epileptic disorders has clue for an inherited susceptibility. Monogenic disorders associated with epilepsy mental retardation and structural brain lesion typified by heterotopias, tuberous sclerosis, and progressive myoclonus epilepsies account for about 1% of epilepsies. This review focuses on the role of genetic mutations and epigenetic rearrangements in the pathophysiologic mechanism of GGE. To achieve this; PubMed, EMBASE, and Google Scholar were systematically and comprehensively searched using keywords (“epilepsy” “juvenile myoclonic epilepsy (JME,” “typical absences,” “idiopathic generalized epilepsy,” “JME,” “juvenile absence epilepsy,” “childhood absence epilepsy” “generalized tonic-clonic seizure” “GTCS”. Most GGE has evidence of underlying genetic inheritance. Recent animal studies have shown that early detection and treatment of genetic generalized epilepsies can alter the phenotypic presentation in rodents. These findings suggest a critical period in epileptogenesis, during which spike-and-wave seizures can be suppressed, leading to chronic changes in the brain (epileptogenesis and the preceding dysfunctions may, therefore, be targeted using therapeutic approaches that may either delay or inhibit the transition to active epileptic attack. The interplay between genetic mutations and epigenetic rearrangements play important roles in the development of GCE and that this process, especially at crucial developmental periods, is very susceptible to environmental modulations.

  15. Validation of a screening tool for attention and executive functions (EpiTrack Junior) in children and adolescents with absence epilepsy.

    Science.gov (United States)

    Kadish, Navah Ester; Baumann, Matthias; Pietz, Joachim; Schubert-Bast, Susanne; Reuner, Gitta

    2013-10-01

    Our prospective study aimed at the validation of EpiTrack Junior, a neuropsychological screening tool for attention and executive functions in children with epilepsy. Twenty-two children with absence epilepsy aged 8-17 years underwent comprehensive neuropsychological evaluation including EpiTrack Junior and measures of intelligence, verbal and nonverbal memory, word fluency and visuoconstructive organization. Concurrent and discriminant validity of EpiTrack Junior subtests and total score as well as sensitivity and specificity of the total score were analyzed. EpiTrack Junior total score was impaired in 59% of participants. Concurrent validity was demonstrated in 4/6 subtests and for the total score. Discriminant validity was shown with respect to verbal and nonverbal long-term memory. Sensitivity was higher than specificity and highest for the "working memory index". EpiTrack Junior is recommended as a sensitive and time-efficient screening tool for attention and executive functions in children with epilepsy. Impaired results should be followed up with detailed evaluation including information from the parents and school as well as counseling where indicated. © 2013.

  16. Epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Wieser, H.G. [University Hospital, Dep. of Neurology, Zurich (Switzerland)

    1993-12-31

    PET has added valuable information to our knowledge of the human epilepsies. The most important observations have been the identification of localized regions of interictal cerebral dysfunction in patients with partial epilepsy, revealed with PET as local hypometabolism, hypoperfusion, or (in one study) enhanced {mu}opiate receptor binding. The following general conclusions about the anatomy of epilepsy can be drawn from interictal PET studies: (1) interictal neuronal dysfunction is not limited to the site of ictal onset, nor to brain areas immediately adjacent to structural damage, (2) temporal lobe dysfunction is most commonly encountered, usually in association with primary epileptogenic lesions in mesial temporal structures, but also on occasion with lateral temporal or extratemporal epileptogenic lesions which preferentially propagate to mesial temporal structures to give rise to complex partial seizures. It is now accepted that interictal {sup 18}F-FDG PET correctly lateralises the primarily epileptic temporal lobe in approximately 70% of patients. As a consequence of inclusion of PET into the UCLA presurgical evaluation protocol, Engel et al. were able to operate on 28% of the patients without using invasive methods, (3) local isolated neocortical dysfunction associated with simple partial seizures is only rarely revealed by PET, (4) remote interictal cerebral dysfunction associated with complex partial seizures is not necessarily limited to the involved TL, since contralateral temporal, extemporal neocortical and cerebral dysfunction may also be seen, (5) a variety of anatomical patterns of interictal cerebral dysfunction occur in secondary generalized epilepsies, which may be related to symptoms and signs, (6) no diffuse or localized interictal cerebral dysfunction has been identified by PET in patients with primary generalized childhood absence seizures. (author) 29 refs.

  17. The role of the nucleus basalis of Meynert and reticular thalamic nucleus in pathogenesis of genetically determined absence epilepsy in rats : A lesion study

    NARCIS (Netherlands)

    Berdiev, R. K.; Chepurnov, S. A.; Veening, J. G.; Chepurnova, N. E.; van Luiftelaar, G.

    2007-01-01

    The role of cholinergic nucleus basalis (of Meynert) and the reticular thalamic nucleus in mechanisms of the generation spontaneous spike-and-wave discharges (SWDs) was investigated in the WAG/Rij rat model of absence epilepsy. Selective lesions were affected by local unilateral intraparenchymal

  18. Source and sink nodes in absence seizures.

    Science.gov (United States)

    Rodrigues, Abner C; Machado, Birajara S; Caboclo, Luis Otavio S F; Fujita, Andre; Baccala, Luiz A; Sameshima, Koichi

    2016-08-01

    As opposed to focal epilepsy, absence seizures do not exhibit a clear seizure onset zone or focus since its ictal activity rapidly engages both brain hemispheres. Yet recent graph theoretical analysis applied to absence seizures EEG suggests the cortical focal presence, an unexpected feature for this type of epilepsy. In this study, we explore the characteristics of absence seizure by classifying the nodes as to their source/sink natures via weighted directed graph analysis based on connectivity direction and strength estimation using information partial directed coherence (iPDC). By segmenting the EEG signals into relatively short 5-sec-long time windows we studied the evolution of coupling strengths from both sink and source nodes, and the network dynamics of absence seizures in eight patients.

  19. Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

    Science.gov (United States)

    Hildebrand, Michael S; Damiano, John A; Mullen, Saul A; Bellows, Susannah T; Oliver, Karen L; Dahl, Hans-Henrik M; Scheffer, Ingrid E; Berkovic, Samuel F

    2014-02-01

    The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain transporters. Inadequate energy delivery leads to neurologic impairment. Haploinsufficiency of the glucose transporter GLUT1 causes a characteristic early onset encephalopathy, and has recently emerged as an important cause of a variety of childhood or later-onset generalized epilepsies and paroxysmal exercise-induced dyskinesia. We explored whether mutations in the genes encoding the other major glucose (GLUT3) or lactate (MCT1/2/3/4) transporters involved in cerebral energy metabolism also cause generalized epilepsies. A cohort of 119 cases with myoclonic astatic epilepsy or early onset absence epilepsy was screened for nucleotide variants in these five candidate genes. No epilepsy-causing mutations were identified, indicating that of the major energetic fuel transporters in the brain, only GLUT1 is clearly associated with generalized epilepsy. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  20. PICK1 uncoupling from mGluR7a causes absence-like seizures

    OpenAIRE

    Bertaso, Federica; Zhang, Chuansheng; Scheschonka, Astrid; de Bock, Frédéric; Fontanaud, Pierre; Marin, Philippe; Huganir, Richard L; Betz, Heinrich; Bockaert, Joël; Fagni, Laurent; Lerner-Natoli, Mireille

    2008-01-01

    Absence epilepsy is a neurological disorder that causes a recurrent loss of consciousness and generalized spike-and-wave discharges on an electroencephalogram (EEG). The role of metabotropic glutamate receptors (mGluRs) and associated scaffolding proteins in absence epilepsy has been unclear to date. We investigated a possible role for these proteins in absence epilepsy, focusing on the mGluR7a receptor and its PDZ-interacting protein, protein interacting with C kinase 1 (PICK1), in rats and ...

  1. Gain-of-function HCN2 variants in genetic epilepsy.

    Science.gov (United States)

    Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E; Berkovic, Samuel F; Petrou, Steven; Reid, Christopher A

    2018-02-01

    Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes. The p.S632W variant was identified in a patient with idiopathic photosensitive occipital epilepsy and segregated in the family. This variant was also independently identified in an unrelated patient with childhood absence seizures from a European cohort of 238 familial GGE cases. The p.V246M variant was identified in a patient with photo-sensitive GGE and his father diagnosed with juvenile myoclonic epilepsy. Functional studies revealed that both p.S632W and p.V246M had an identical functional impact including a depolarizing shift in the voltage dependence of activation that is consistent with a gain-of-function. In contrast, no biophysical changes resulted from the introduction of common population variants, p.E280K and p.A705T, and the p.R756C variant from EPGP that did not segregate with disease. Our data suggest that HCN2 variants can confer susceptibility to GGE via a gain-of-function mechanism. © 2017 Wiley Periodicals, Inc.

  2. Identifying workers at risk of sickness absence by questionnaire

    NARCIS (Netherlands)

    Roelen, Corne A. M.; van der Pol, Tjepke R.; Koopmans, Petra C.; Groothoff, Johan W.

    2006-01-01

    Background Sickness absence is an important economic problem, because of high costs and lost productivity. Determining factors associated with increased risk of sickness absence may lead to the development of preventive measures. Aims To determine whether self-report questionnaires can identify

  3. Strong memory in time series of human magnetoencephalograms can identify photosensitive epilepsy

    International Nuclear Information System (INIS)

    Yulmetyev, R. M.; Yulmetyeva, D. G.; Haenggi, P.; Shimojo, S.; Bhattacharya, J.

    2007-01-01

    To discuss the salient role of statistical memory effects in human brain functioning, we have analyzed a set of stochastic memory quantifiers that reflects the dynamical characteristics of neuromagnetic responses of magnetoencephalographic signals to a flickering stimulus of different color combinations from a group of control subjects, and compared them with those for a patient with photosensitive epilepsy. We have discovered that the emergence of strong memory and the accompanying transition to a regular and robust regime of chaotic behavior of signals in separate areas for a patient most likely identifies the regions where the protective mechanism against the occurrence of photosensitive epilepsy is located

  4. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

    Science.gov (United States)

    Leu, Costin; de Kovel, Carolien G F; Zara, Federico; Striano, Pasquale; Pezzella, Marianna; Robbiano, Angela; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Giallonardo, Anna Teresa; Beccaria, Francesca; Trenité, Dorothée Kasteleijn-Nolst; Lindhout, Dick; Gaus, Verena; Schmitz, Bettina; Janz, Dieter; Weber, Yvonne G; Becker, Felicitas; Lerche, Holger; Kleefuss-Lie, Ailing A; Hallman, Kerstin; Kunz, Wolfram S; Elger, Christian E; Muhle, Hiltrud; Stephani, Ulrich; Møller, Rikke S; Hjalgrim, Helle; Mullen, Saul; Scheffer, Ingrid E; Berkovic, Samuel F; Everett, Kate V; Gardiner, Mark R; Marini, Carla; Guerrini, Renzo; Lehesjoki, Anna-Elina; Siren, Auli; Nabbout, Rima; Baulac, Stephanie; Leguern, Eric; Serratosa, Jose M; Rosenow, Felix; Feucht, Martha; Unterberger, Iris; Covanis, Athanasios; Suls, Arvid; Weckhuysen, Sarah; Kaneva, Radka; Caglayan, Hande; Turkdogan, Dilsad; Baykan, Betul; Bebek, Nerses; Ozbek, Ugur; Hempelmann, Anne; Schulz, Herbert; Rüschendorf, Franz; Trucks, Holger; Nürnberg, Peter; Avanzini, Giuliano; Koeleman, Bobby P C; Sander, Thomas

    2012-02-01

    Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure type-related genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively. Meta-analysis of three genome-wide linkage datasets was carried out in 379 GGE-multiplex families of European ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared and seizure type-related susceptibility loci, both nonparametric loci (NPL) and parametric linkage analyses were performed for a broad trait model (GGEs) in the entire set of GGE-multiplex families and a narrow trait model (typical absence or myoclonic seizures) in the subgroups of JME and GAE families. For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all three family groups. A genome-wide significant nonparametric logarithm of odds score of 3.43 was obtained at 2q34 in 118 JME families. Significant parametric linkage to 13q31.3 was found in 235 GAE families assuming recessive inheritance (heterogeneity logarithm of odds = 5.02). Our linkage results support an oligogenic predisposition of familial GGE syndromes. The genetic risk factor at 5q34 confers risk to a broad spectrum of familial GGE syndromes, whereas susceptibility loci at 2q34 and 13q31

  5. Identifying clinical correlates for suicide among epilepsy patients in South Korea: A case-control study.

    Science.gov (United States)

    Park, Sung-Jin; Lee, Hochang Benjamin; Ahn, Myung Hee; Park, Subin; Choi, Eun Ju; Lee, Hoon-Jin; Ryu, Han Uk; Kang, Joong-Koo; Hong, Jin Pyo

    2015-12-01

    Suicide is a major cause of premature mortality in patients with epilepsy. We aimed to identify the clinical correlates of suicide in these patients. We conducted a matched, case-control study based on a clinical case registry of epilepsy patients (n = 35,638) treated between January 1994 and December 2011 at an academic tertiary medical center in Seoul, Korea. Each epilepsy patient in the suicide group (n = 74) was matched with three epilepsy patients in the nonsuicide group (n = 222) by age, gender, and approximate time at first treatment. The clinical characteristics of the patients in both groups were then compared. In a univariate analysis, seizure frequency during the year before suicide, use of antiepileptic drug polytherapy, lack of aura before seizure, diagnosis of temporal lobe epilepsy, use of levetiracetam, psychiatric comorbidity, and use of antidepressants were all significantly higher in the suicide group than in the nonsuicide group. Multivariate analysis revealed that a high seizure frequency (odds ratio [OR] 3.3, 95% confidence interval [CI] 1.04-10.2), a lack of aura before seizure (OR 4.0, 95% CI 1.7-9.3), temporal lobe epilepsy (OR 3.7, 95% CI 1.6-8.6), and use of levetiracetam (OR 7.6, 95% CI 1.1-53.7) and antidepressants (OR 7.2, 95% CI 1.5-34.1) were all associated with a higher probability of suicide. Patients with temporal lobe epilepsy who experience seizures weekly or more frequently, experience a lack of aura, use levetiracetam, or take antidepressants are all at a higher risk of suicide and should be monitored closely. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  6. Thalamic stimulation in absence epilepsy

    NARCIS (Netherlands)

    Luttjohann, A.K.; Luijtelaar, E.L.J.M. van

    2013-01-01

    Purpose The site specific effects of two different types of electrical stimulation of the thalamus on electroencephalic epileptic activity as generated in the cortico-thalamo-cortical system were investigated in genetic epileptic WAG/Rij rats, a well characterized and validated absence

  7. Natural evolution from idiopathic photosensitive occipital lobe epilepsy to idiopathic generalized epilepsy in an untreated young patient.

    Science.gov (United States)

    Bonini, Francesca; Egeo, Gabriella; Fattouch, Jinan; Fanella, Martina; Morano, Alessandra; Giallonardo, Anna Teresa; di Bonaventura, Carlo

    2014-04-01

    Idiopathic photosensitive occipital lobe epilepsy (IPOE) is an idiopathic localization-related epilepsy characterized by age-related onset, specific mode of precipitation, occipital photic-induced seizures--frequently consisting of visual symptoms--and good prognosis. This uncommon epilepsy, which usually starts in childhood or adolescence, has rarely been observed in families in which idiopathic generalized epilepsy also affects other members. We describe a nuclear family in which the proband showed electro-clinical features of idiopathic photosensitive occipital lobe epilepsy in childhood, which subsequently evolved into absences and a single generalized tonico-clonic seizure in early adolescence. His mother had features suggestive of juvenile myoclonic epilepsy. This case illustrates a continuum between focal and generalized entities in the spectrum of the so-called idiopathic (genetically determined) epileptic syndromes. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. Memory in children with symptomatic temporal lobe epilepsy

    Directory of Open Access Journals (Sweden)

    Catarina A. Guimarães

    2014-03-01

    Full Text Available In children with temporal lobe epilepsy (TLE, memory deficit is not so well understood as it is in adults. The aim of this study was to identify and describe memory deficits in children with symptomatic TLE, and to verify the influence of epilepsy variables on memory. We evaluated 25 children with TLE diagnosed on clinical, EEG and MRI findings. Twenty-five normal children were compared with the patients. All children underwent a neuropsychological assessment to estimate intellectual level, attention, visual perception, handedness, and memory processes (verbal and visual: short-term memory, learning, and delayed recall. The results allowed us to conclude: besides memory deficits, other neuropsychological disturbances may be found in children with TLE such as attention, even in the absence of overall cognitive deficit; the earlier onset of epilepsy, the worse verbal stimuli storage; mesial lesions correlate with impairment in memory storage stage while neocortical temporal lesions correlate with retrieval deficits.

  9. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

    DEFF Research Database (Denmark)

    Larsen, Jan; Johannesen, Katrine Marie; Ek, Jakob

    2015-01-01

    The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy inc...

  10. A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy.

    Science.gov (United States)

    Atkin, Talia A; Maher, Chani M; Gerlach, Aaron C; Gay, Bryant C; Antonio, Brett M; Santos, Sonia C; Padilla, Karen M; Rader, JulieAnn; Krafte, Douglas S; Fox, Matthew A; Stewart, Gregory R; Petrovski, Slavé; Devinsky, Orrin; Might, Matthew; Petrou, Steven; Goldstein, David B

    2018-04-01

    Many previous studies of drug repurposing have relied on literature review followed by evaluation of a limited number of candidate compounds. Here, we demonstrate the feasibility of a more comprehensive approach using high-throughput screening to identify inhibitors of a gain-of-function mutation in the SCN8A gene associated with severe pediatric epilepsy. We developed cellular models expressing wild-type or an R1872Q mutation in the Na v 1.6 sodium channel encoded by SCN8A. Voltage clamp experiments in HEK-293 cells expressing the SCN8A R1872Q mutation demonstrated a leftward shift in sodium channel activation as well as delayed inactivation; both changes are consistent with a gain-of-function mutation. We next developed a fluorescence-based, sodium flux assay and used it to assess an extensive library of approved drugs, including a panel of antiepileptic drugs, for inhibitory activity in the mutated cell line. Lead candidates were evaluated in follow-on studies to generate concentration-response curves for inhibiting sodium influx. Select compounds of clinical interest were evaluated by electrophysiology to further characterize drug effects on wild-type and mutant sodium channel functions. The screen identified 90 drugs that significantly inhibited sodium influx in the R1872Q cell line. Four drugs of potential clinical interest-amitriptyline, carvedilol, nilvadipine, and carbamazepine-were further investigated and demonstrated concentration-dependent inhibition of sodium channel currents. A comprehensive drug repurposing screen identified potential new candidates for the treatment of epilepsy caused by the R1872Q mutation in the SCN8A gene. Wiley Periodicals, Inc. © 2018 International League Against Epilepsy.

  11. Electroencephalographic precursors of spike-wave discharges in a genetic rat model of absence epilepsy: Power spectrum and coherence EEG analyses.

    Science.gov (United States)

    Sitnikova, Evgenia; van Luijtelaar, Gilles

    2009-04-01

    Periods in the electroencephalogram (EEG) that immediately precede the onset of spontaneous spike-wave discharges (SWD) were examined in WAG/Rij rat model of absence epilepsy. Precursors of SWD (preSWD) were classified based on the distribution of EEG power in delta-theta-alpha frequency bands as measured in the frontal cortex. In 95% of preSWD, an elevation of EEG power was detected in delta band (1-4Hz). 73% of preSWD showed high power in theta frequencies (4.5-8Hz); these preSWD might correspond to 5-9Hz oscillations that were found in GAERS before SWD onset [Pinault, D., Vergnes, M., Marescaux, C., 2001. Medium-voltage 5-9Hz oscillations give rise to spike-and-wave discharges in a genetic model of absence epilepsy: in vivo dual extracellular recording of thalamic relay and reticular neurons. Neuroscience 105, 181-201], however, theta component of preSWD in our WAG/Rij rats was not shaped into a single rhythm. It is concluded that a coalescence of delta and theta in the cortex is favorable for the occurrence of SWD. The onset of SWD was associated with strengthening of intracortical and thalamo-cortical coherence in 9.5-14Hz and in double beta frequencies. No features of EEG coherence can be considered as unique for any of preSWD subtype. Reticular and ventroposteromedial thalamic nuclei were strongly coupled even before the onset of SWD. All this suggests that SWD derive from an intermixed delta-theta EEG background; seizure onset associates with reinforcement of intracortical and cortico-thalamic associations.

  12. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

    Science.gov (United States)

    Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D; Kossoff, Eric H; Willems, Marjolaine; Geneviève, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally

    2016-11-01

    IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study. Information regarding the 18 patients was ascertained by questionnaire provided to the treating clinicians. Six affected individuals had an inherited IQSEC2 variant and 12 had a de novo one (male-to-female ratio, 12:6). The pathogenic variant types were as follows: missense (8), nonsense (5), frameshift (1), intragenic duplications (2), translocation (1), and insertion (1). An epileptic encephalopathy was diagnosed in 9 (50%) of 18 patients. Seizure onset ranged from 8 months to 4 years; seizure types included spasms, atonic, myoclonic, tonic, absence, focal seizures, and generalized tonic-clonic (GTC) seizures. The electroclinical syndromes could be defined in five patients: late-onset epileptic spasms (three) and Lennox-Gastaut or Lennox-Gastaut-like syndrome (two). Seizures were pharmacoresistant in all affected individuals with epileptic encephalopathy. The epilepsy in the other nine patients had a variable age at onset from infancy to 18 years; seizure types included GTC and absence seizures in the hereditary cases and GTC and focal seizures in de novo cases. Seizures were responsive to medical treatment in most cases. All 18 patients had moderate to profound intellectual disability. Developmental regression, autistic features, hypotonia, strabismus, and white matter changes on brain magnetic resonance imaging (MRI) were prominent features. The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical

  13. LGI2 truncation causes a remitting focal epilepsy in dogs.

    Directory of Open Access Journals (Sweden)

    Eija H Seppälä

    2011-07-01

    Full Text Available One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseases with onset during pruning, affecting 0.5% of 2-10-year-old children, and these epilepsies are often characterized by spontaneous remission. We previously described a remitting epilepsy in the Lagotto romagnolo canine breed. Here, we identify the gene defect and affected neurochemical pathway. We reconstructed a large Lagotto pedigree of around 34 affected animals. Using genome-wide association in 11 discordant sib-pairs from this pedigree, we mapped the disease locus to a 1.7 Mb region of homozygosity in chromosome 3 where we identified a protein-truncating mutation in the Lgi2 gene, a homologue of the human epilepsy gene LGI1. We show that LGI2, like LGI1, is neuronally secreted and acts on metalloproteinase-lacking members of the ADAM family of neuronal receptors, which function in synapse remodeling, and that LGI2 truncation, like LGI1 truncations, prevents secretion and ADAM interaction. The resulting epilepsy onsets at around seven weeks (equivalent to human two years, and remits by four months (human eight years, versus onset after age eight in the majority of human patients with LGI1 mutations. Finally, we show that Lgi2 is expressed highly in the immediate post-natal period until halfway through pruning, unlike Lgi1, which is expressed in the latter part of pruning and beyond. LGI2 acts at least in part through the same ADAM receptors as LGI1, but earlier, ensuring electrical stability (absence of epilepsy during pruning years, preceding this same function performed by LGI1 in later years. LGI2 should be considered a candidate gene for common remitting childhood epilepsies, and LGI2-to-LGI1 transition for mechanisms of childhood epilepsy remission.

  14. Listening to Epilepsy.

    Science.gov (United States)

    Brunquell, Phillip J.

    1994-01-01

    This paper discusses what epilepsy is and what it is not, defines types of epileptic seizures, identifies epilepsy syndromes, discusses antiepileptic drugs, describes seizure surgery, and examines issues of quality of life. (JDD)

  15. Epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Fisher, R.S.; Frost, J.J. (Johns Hopkins Univ., Baltimore, MD (USA))

    1991-04-01

    As surgical treatments for adult and pediatric forms of epilepsy have become more refined, methods for noninvasive localization of epileptogenic foci have become increasingly important. Detection of focal brain metabolic or flow abnormalities is now well recognized as an essential step in the presurgical evaluation of many patients with epilepsy. Positron emission tomography (PET) scanning is most beneficial when used in the context of the total clinical evaluation of patients, including scalp EEG, invasive EEG, neuropsychologic testing, etc. Metabolic PET studies also give insight into pathophysiologic mechanisms of epilepsy. The dynamic nature of the interictal hypometabolism observed with 18(F)FDG in some patients suggests that excitatory or inhibitory neurotransmitters and their receptors may be involved. An exciting current application of PET scanning is the use of tracers for neurotransmitter receptors in the study of epilepsy patients. Mu and non-mu opiate receptors have been extensively studied and are beginning to give new insights into this disorder. Increased labeling of mu receptors in temporal neocortex using 11C-carfentanil has been demonstrated and, in some patients, supplements the clinical localization information from 18(F)FDG studies. Increased mu opiate receptor number or affinity is thought to play a role in anticonvulsant mechanisms. Specificity of increased mu receptors is supported by the absence of significant changes in non-mu opiate receptors. Other brain receptors are also of interest for future studies, particularly those for excitatory neurotransmitters. Combined studies of flow, metabolism, and neuroreceptors may elucidate the factors responsible for initiation and termination of seizures, thus improving patient treatment.95 references.

  16. Epilepsy

    International Nuclear Information System (INIS)

    Fisher, R.S.; Frost, J.J.

    1991-01-01

    As surgical treatments for adult and pediatric forms of epilepsy have become more refined, methods for noninvasive localization of epileptogenic foci have become increasingly important. Detection of focal brain metabolic or flow abnormalities is now well recognized as an essential step in the presurgical evaluation of many patients with epilepsy. Positron emission tomography (PET) scanning is most beneficial when used in the context of the total clinical evaluation of patients, including scalp EEG, invasive EEG, neuropsychologic testing, etc. Metabolic PET studies also give insight into pathophysiologic mechanisms of epilepsy. The dynamic nature of the interictal hypometabolism observed with 18[F]FDG in some patients suggests that excitatory or inhibitory neurotransmitters and their receptors may be involved. An exciting current application of PET scanning is the use of tracers for neurotransmitter receptors in the study of epilepsy patients. Mu and non-mu opiate receptors have been extensively studied and are beginning to give new insights into this disorder. Increased labeling of mu receptors in temporal neocortex using 11C-carfentanil has been demonstrated and, in some patients, supplements the clinical localization information from 18[F]FDG studies. Increased mu opiate receptor number or affinity is thought to play a role in anticonvulsant mechanisms. Specificity of increased mu receptors is supported by the absence of significant changes in non-mu opiate receptors. Other brain receptors are also of interest for future studies, particularly those for excitatory neurotransmitters. Combined studies of flow, metabolism, and neuroreceptors may elucidate the factors responsible for initiation and termination of seizures, thus improving patient treatment.95 references

  17. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

    Science.gov (United States)

    Holder, J Lloyd; Quach, Michael M

    2016-10-01

    The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability. 1 Individuals with loss-of-function mutations in SHANK3 have intellectual disability, autism, and variably, epilepsy. 2-5 The spectrum of seizure semiologies and electroencephalography (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in approximately 2% of individuals with moderate to severe intellectual disabilities and 1% of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations. A retrospective chart review was performed of all individuals treated at the Blue Bird Circle Clinic for Child Neurology who have been identified as having either a chromosome 22q13 microdeletion encompassing SHANK3 or a loss-of-function mutation in SHANK3 identified through whole-exome sequencing. For each subject, the presence or absence of seizures, seizure semiology, frequency, age of onset, and efficacy of therapy were determined. Electroencephalography studies were reviewed by a board certified neurophysiologist. Neuroimaging was reviewed by both a board certified pediatric neuroradiologist and child neurologist. There is a wide spectrum of seizure semiologies, frequencies, and severity in individuals with SHANK3 mutations. There are no specific EEG abnormalities found in our cohort, and EEG abnormalities were present in individuals diagnosed with epilepsy and those without history of a clinical seizure. All individuals with a mutation in SHANK3 should be evaluated for epilepsy due to the high prevalence of seizures in this population. The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging

  18. The causal relationship between neurocysticercosis infection and the development of epilepsy - a systematic review.

    Science.gov (United States)

    Gripper, Lucy B; Welburn, Susan C

    2017-04-05

    Neurocysticercosis (NCC) is a parasitic infection of the human central nervous system, the most common form of which involves infection of the brain parenchyma with the larval form of the Taenia solium tapeworm. A causal relationship between such an NCC infection and the development of epilepsy in infected individuals is acknowledged, in part supported by high levels of comorbidity in endemic countries worldwide. This study undertook a systematic review and critical analysis of the NCC-epilepsy relationship with the primary objective of quantifying the risk of developing epilepsy following NCC infection. A secondary aim was to analyse the proportions of NCC-associated epilepsy within different populations. Significant emphasis was placed on the importance of neuroimaging (CT or MRI) availability and use of clear guidelines for epilepsy diagnosis, in order to avoid overestimations of prevalence rates of either condition; a limitation identified in several previous studies. A common odds ratio of 2.76 was identified from meta-analysis of case-control studies, indicating that an individual infected with NCC has almost a three times higher risk of developing epilepsy than an uninfected individual. Furthermore, meta-analysis of studies identified a common proportion of 31.54% of epilepsy cases associated with NCC infection which suggests that amongst epileptic populations in at risk countries, approximately one-third may be associated with NCC infection. A significant finding was the lack of good clinical data to enable accurate determination of a causal relationship. Even studies that were included had noticeable limitations, including a general lack of consistency in diagnostics, and lack of accurate epidemiological data. This review highlights a need for consistency in research in this field. In the absence of reliable estimates of its global burden, NCC will remain of low priority in the eyes of funding agencies - a truly neglected disease.

  19. Environmental enrichment imparts disease-modifying and transgenerational effects on genetically-determined epilepsy and anxiety.

    Science.gov (United States)

    Dezsi, Gabi; Ozturk, Ezgi; Salzberg, Michael R; Morris, Margaret; O'Brien, Terence J; Jones, Nigel C

    2016-09-01

    The absence epilepsies are presumed to be caused by genetic factors, but the influence of environmental exposures on epilepsy development and severity, and whether this influence is transmitted to subsequent generations, is not well known. We assessed the effects of environmental enrichment on epilepsy and anxiety outcomes in multiple generations of GAERS - a genetic rat model of absence epilepsy that manifests comorbid elevated anxiety-like behaviour. GAERS were exposed to environmental enrichment or standard housing beginning either prior to, or after epilepsy onset, and underwent EEG recordings and anxiety testing. Then, we exposed male GAERS to early enrichment or standard housing and generated F1 progeny, which also underwent EEG recordings. Hippocampal CRH mRNA expression and DNA methylation were assessed using RT-PCR and pyrosequencing, respectively. Early environmental enrichment delayed the onset of epilepsy in GAERS, and resulted in fewer seizures in adulthood, compared with standard housed GAERS. Enrichment also reduced the frequency of seizures when initiated in adulthood. Anxiety levels were reduced by enrichment, and these anti-epileptogenic and anxiolytic effects were heritable into the next generation. We also found reduced expression of CRH mRNA in GAERS exposed to enrichment, but this was not due to changes in DNA methylation. Environmental enrichment produces disease-modifying effects on genetically determined absence epilepsy and anxiety, and these beneficial effects are transferable to the subsequent generation. Reduced CRH expression was associated with these phenotypic improvements. Environmental stimulation holds promise as a naturalistic therapy for genetically determined epilepsy which may benefit subsequent generations. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...

  1. Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy.

    Science.gov (United States)

    Mishra, Vikas; Gautier, Nicole M; Glasscock, Edward

    2018-01-29

    In epilepsy, seizures can evoke cardiac rhythm disturbances such as heart rate changes, conduction blocks, asystoles, and arrhythmias, which can potentially increase risk of sudden unexpected death in epilepsy (SUDEP). Electroencephalography (EEG) and electrocardiography (ECG) are widely used clinical diagnostic tools to monitor for abnormal brain and cardiac rhythms in patients. Here, a technique to simultaneously record video, EEG, and ECG in mice to measure behavior, brain, and cardiac activities, respectively, is described. The technique described herein utilizes a tethered (i.e., wired) recording configuration in which the implanted electrode on the head of the mouse is hard-wired to the recording equipment. Compared to wireless telemetry recording systems, the tethered arrangement possesses several technical advantages such as a greater possible number of channels for recording EEG or other biopotentials; lower electrode costs; and greater frequency bandwidth (i.e., sampling rate) of recordings. The basics of this technique can also be easily modified to accommodate recording other biosignals, such as electromyography (EMG) or plethysmography for assessment of muscle and respiratory activity, respectively. In addition to describing how to perform the EEG-ECG recordings, we also detail methods to quantify the resulting data for seizures, EEG spectral power, cardiac function, and heart rate variability, which we demonstrate in an example experiment using a mouse with epilepsy due to Kcna1 gene deletion. Video-EEG-ECG monitoring in mouse models of epilepsy or other neurological disease provides a powerful tool to identify dysfunction at the level of the brain, heart, or brain-heart interactions.

  2. The challenges that parents of children with epilepsy face: A qualitative study.

    Science.gov (United States)

    Kampra, Matina; Tzerakis, Nikolaos; Lund Holm Thomsen, Louise; Katsarou, Efstathia; Voudris, Konstantinos; D Mastroyianni, Sotiria; Mouskou, Stella; Drossou, Kyriaki S; Siatouni, Anna; Gatzonis, Stylianos

    2017-06-01

    This qualitative study explored the challenges that Greek parents/caregivers of children with controlled epilepsy (CwE) face regarding the disorder. Interviews were conducted based on open-ended questions guided by a review of the literature. A total of 91 parents/caregivers were recruited by neurologists at the neurology clinics of two Athens public hospitals. A hermeneutic phenomenological approach was used to explore parent/caregiver experiences. The data were grouped and analyzed through a textual interpretation. Two key challenges were identified for parents of CwE: the disclosure of epilepsy and the absence of adequate information about coping with epilepsy. Parents in Greece were hesitant to reveal their child's epilepsy to school staff and their wider social milieu. Also, although satisfied with the patient-centered approach they experienced with their hospital doctor, parents/caregivers found that they needed more education about the existing sources of psychosocial and emotional support to cope with their child's epilepsy personally and as a family. Finally, the parents/caregivers who let their child know about the epilepsy and discussed the implications with the child found that parent-child communication improved. This study provides valuable insight into the impact of epilepsy on parents of CwE, which might help hospital and school staff support families with greater understanding, sensitivity, and skill. The findings suggest that Greek authorities should staff hospitals and schools with experts and more systematically advertise sources of information about epilepsy and ways to cope with it. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Seizure-related factors and non-verbal intelligence in children with epilepsy. A population-based study from Western Norway.

    Science.gov (United States)

    Høie, B; Mykletun, A; Sommerfelt, K; Bjørnaes, H; Skeidsvoll, H; Waaler, P E

    2005-06-01

    To study the relationship between seizure-related factors, non-verbal intelligence, and socio-economic status (SES) in a population-based sample of children with epilepsy. The latest ILAE International classifications of epileptic seizures and syndromes were used to classify seizure types and epileptic syndromes in all 6-12 year old children (N=198) with epilepsy in Hordaland County, Norway. The children had neuropediatric and EEG examinations. Of the 198 patients, demographic characteristics were collected on 183 who participated in psychological studies including Raven matrices. 126 healthy controls underwent the same testing. Severe non-verbal problems (SNVP) were defined as a Raven score at or Raven percentile group, whereas controls were highly over-represented in the higher percentile groups. SNVP were present in 43% of children with epilepsy and 3% of controls. These problems were especially common in children with remote symptomatic epilepsy aetiology, undetermined epilepsy syndromes, myoclonic seizures, early seizure debut, high seizure frequency and in children with polytherapy. Seizure-related characteristics that were not usually associated with SNVP were idiopathic epilepsies, localization related (LR) cryptogenic epilepsies, absence and simple partial seizures, and a late debut of epilepsy. Adjusting for socio-economic status factors did not significantly change results. In childhood epilepsy various seizure-related factors, but not SES factors, were associated with the presence or absence of SNVP. Such deficits may be especially common in children with remote symptomatic epilepsy aetiology and in complex and therapy resistant epilepsies. Low frequencies of SNVP may be found in children with idiopathic and LR cryptogenic epilepsy syndromes, simple partial or absence seizures and a late epilepsy debut. Our study contributes to an overall picture of cognitive function and its relation to central seizure characteristics in a childhood epilepsy population

  4. Caring for transgender patients with epilepsy.

    Science.gov (United States)

    Johnson, Emily L; Kaplan, Peter W

    2017-10-01

    Approximately 25 million individuals older than age 15 identify as transgender, representing about 0.3-0.9% of the world's population. The aim of this paper is to identify and describe important medical and social considerations facing transgender persons with epilepsy. We performed literature searches on the following terms: transgender AND epilepsy, transgender AND neurology, gender dysphoria AND epilepsy, gender dysphoria AND neurology. We also performed literature searches for common feminizing or masculinizing treatment regimens, and searched for interactions of those treatment regimens with antiepileptic drugs (AEDs) and with seizures. There are multiple bidirectional interactions between AEDs and the commonly used treatments for aligning external sex characteristics with identified gender. The scope of the transgender population with epilepsy remains to be elucidated. Transgender patients with epilepsy face significant social and medical challenges. Interactions between medical gender-affirming treatments and AEDs are common, and management must depend on knowledge of these interactions to provide appropriate treatment. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  5. List-learning and verbal memory profiles in childhood epilepsy syndromes.

    Science.gov (United States)

    Schraegle, William A; Nussbaum, Nancy L; Stefanatos, Arianna K

    2016-09-01

    Findings of material-specific influences on memory performance in pediatric epilepsy are inconsistent and merit further investigation. This study compared 90 children (aged 6years to 16years) with childhood absence epilepsy (CAE), frontal lobe epilepsy (FLE), and temporal lobe epilepsy (TLE) to determine whether they displayed distinct list-learning and verbal memory profiles on the California Verbal Learning Test - Children's Version (CVLT-C). Group comparison identified greater risk of memory impairment in children with TLE and FLE syndromes but not for those with CAE. While children with TLE performed worst overall on Short Delay Free Recall, groups with TLE and FLE performed similarly on Long Delay Free Recall. Contrast indices were then employed to explore these differences. Children with TLE demonstrated a significantly greater retroactive interference (RI) effect compared with groups with FLE and CAE. Conversely, children with FLE demonstrated a significantly worse learning efficiency index (LEI), which compares verbal memory following repetition with initial recall of the same list, than both children with TLE and CAE. These findings indicated shallow encoding related to attentional control for children with FLE and retrieval deficits in children with TLE. Finally, our combined sample showed significantly higher rates of extreme contrast indices (i.e., 1.5 SD difference) compared with the CVLT-C standardization sample. These results underscore the high prevalence of memory dysfunction in pediatric epilepsy and offer support for distinct patterns of verbal memory performance based on childhood epilepsy syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Angelman syndrome, cause of epilepsy in infants

    International Nuclear Information System (INIS)

    Sykora, P.; Vicenova, A.; Svecova, L.; Kolnikova, M.

    2014-01-01

    Several chromosomal syndromes include brain dysfunction symptoms as mental retardation, developmental speech disorders and epilepsy. Authors present a case report of Angelman syndrome – neuro behavioral disorder associated with deletion in the maternal chromosome 15q 11-g13 causing mutation of the UBE3A gene. The main features consist of psychomotor retardation, developmental speech disorder, ataxia, tremor, hyperactivity, clapping hands, inadequate laughter and happiness, attention deficit and epilepsy. The later starts before the 3rd year of age in form of atypical absences, myoclonic and generalized tonic-clonic seizures. EEG typically shows episodes of slow activity with sharp waves occipitally. Prognosis is poor. Genetic syndromes importantly contribute to the etiology of epilepsy with early seizures. (author)

  7. The reasons for the epilepsy treatment gap in Kilifi, Kenya: using formative research to identify interventions to improve adherence to antiepileptic drugs.

    Science.gov (United States)

    Carter, Julie A; Molyneux, Catherine S; Mbuba, Caroline K; Jenkins, Jo; Newton, Charles R J C; Hartley, Sally D

    2012-12-01

    Many people with epilepsy (PWE) in resource-poor countries do not receive appropriate treatment, a phenomenon referred to as the epilepsy treatment gap (ETG). We conducted a qualitative study to explore the reasons for this gap and to identify possible interventions in Kilifi, Kenya. Focus group discussions (FGDs) were carried out of PWE and their caregivers. Individual interviews were conducted of PWE, their caregivers, traditional healers, community health workers and leaders, nurses and doctors. In addition, a series of workshops was conducted, and four factors contributing to the ETG were identified: 1) lack of knowledge about the causes, treatment and prognosis of epilepsy; 2) inaccessibility to antiepileptic drugs; 3) misconceptions about epilepsy derived from superstitions about its origin; 4) and dissatisfaction with the communication skills of health providers. These data indicated possible interventions: 1) education and support for PWE and their caregivers; 2) communication skills training for health providers; 3) and improved drug provision. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Epilepsy, Cognition, and Behavior: The clinical picture

    Science.gov (United States)

    Berg, Anne T.

    2010-01-01

    Although epilepsy is defined by the occurrence of spontaneous epileptic seizures, a large body of evidence indicates that epilepsy is linked to a spectrum behavioral, psychiatric, and cognitive disorders as well as to sudden death. Explanations for these associations include: (1) The effects of structural lesions which may impair the functions subserved by the regions of the brain involved in the lesion. (2) The effects of seizure activity which may begin well before a clinical seizure occurs and may persist long after it is over raising questions about what truly constitutes “interictal.” In addition, encephalopathic effects of epilepsy in infancy during critical periods in development may be particularly severe and potentially irreversible. (3) Shared mechanisms underlying seizures as well as these other disorders in the absence of structural lesions or separate diseases of the CNS. Epidemiological and clinical studies demonstrate the elevated risk of cognitive, psychiatric, and behavioral disorders not just during but also prior to the onset of epilepsy (seizures) itself. These may outlast the active phase of epilepsy as well. The mounting evidence argues strongly for the recognition of epilepsy as part of a spectrum of disorders and against the notion that even uncomplicated epilepsy can a priori be considered benign. PMID:21214534

  9. The T-type calcium channel antagonist Z944 rescues impairments in crossmodal and visual recognition memory in Genetic Absence Epilepsy Rats from Strasbourg.

    Science.gov (United States)

    Marks, Wendie N; Cain, Stuart M; Snutch, Terrance P; Howland, John G

    2016-10-01

    Childhood absence epilepsy (CAE) is often comorbid with behavioral and cognitive symptoms, including impaired visual memory. Genetic Absence Epilepsy Rats from Strasbourg (GAERS) is an animal model closely resembling CAE; however, cognition in GAERS is poorly understood. Crossmodal object recognition (CMOR) is a recently developed memory task that examines not only purely visual and tactile memory, but also requires rodents to integrate sensory information about objects gained from tactile exploration to enable visual recognition. Both the visual and crossmodal variations of the CMOR task rely on the perirhinal cortex, an area with dense expression of T-type calcium channels. GAERS express a gain-in-function missense mutation in the Cav3.2 T-type calcium channel gene. Therefore, we tested whether the T-type calcium channel blocker Z944 dose dependently (1, 3, 10mg/kg; i.p.) altered CMOR memory in GAERS compared to the non-epileptic control (NEC) strain. GAERS demonstrated recognition memory deficits in the visual and crossmodal variations of the CMOR task that were reversed by the highest dose of Z944. Electroencephalogram recordings determined that deficits in CMOR memory in GAERS were not the result of seizures during task performance. In contrast, NEC showed a decrease in CMOR memory following Z944 treatment. These findings suggest that T-type calcium channels mediate CMOR in both the GAERS and NEC strains. Future research into the therapeutic potential of T-type calcium channel regulation may be particularly fruitful for the treatment of CAE and other disorders characterized by visual memory deficits. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Prevalence and risk factors of seizure clusters in adult patients with epilepsy.

    Science.gov (United States)

    Chen, Baibing; Choi, Hyunmi; Hirsch, Lawrence J; Katz, Austen; Legge, Alexander; Wong, Rebecca A; Jiang, Alfred; Kato, Kenneth; Buchsbaum, Richard; Detyniecki, Kamil

    2017-07-01

    In the current study, we explored the prevalence of physician-confirmed seizure clusters. We also investigated potential clinical factors associated with the occurrence of seizure clusters overall and by epilepsy type. We reviewed medical records of 4116 adult (≥16years old) outpatients with epilepsy at our centers for documentation of seizure clusters. Variables including patient demographics, epilepsy details, medical and psychiatric history, AED history, and epilepsy risk factors were then tested against history of seizure clusters. Patients were then divided into focal epilepsy, idiopathic generalized epilepsy (IGE), or symptomatic generalized epilepsy (SGE), and the same analysis was run. Overall, seizure clusters were independently associated with earlier age of seizure onset, symptomatic generalized epilepsy (SGE), central nervous system (CNS) infection, cortical dysplasia, status epilepticus, absence of 1-year seizure freedom, and having failed 2 or more AEDs (Pepilepsy (16.3%) and IGE (7.4%; all Pepilepsy type showed that absence of 1-year seizure freedom since starting treatment at one of our centers was associated with seizure clustering in patients across all 3 epilepsy types. In patients with SGE, clusters were associated with perinatal/congenital brain injury. In patients with focal epilepsy, clusters were associated with younger age of seizure onset, complex partial seizures, cortical dysplasia, status epilepticus, CNS infection, and having failed 2 or more AEDs. In patients with IGE, clusters were associated with presence of an aura. Only 43.5% of patients with seizure clusters were prescribed rescue medications. Patients with intractable epilepsy are at a higher risk of developing seizure clusters. Factors such as having SGE, CNS infection, cortical dysplasia, status epilepticus or an early seizure onset, can also independently increase one's chance of having seizure clusters. Copyright © 2017. Published by Elsevier B.V.

  11. Absence of association between major vault protein (MVP) gene polymorphisms and drug resistance in Chinese Han patients with partial epilepsy.

    Science.gov (United States)

    Zhou, Luo; Zhang, Mengqi; Long, Hongyu; Long, Lili; Xie, Yuanyuan; Liu, Zhaoqian; Kang, Jin; Chen, Qihua; Feng, Li; Xiao, Bo

    2015-11-15

    Drug resistance in epilepsy is common despite many antiepileptic drugs (AEDs) available for treatment. The development of drug resistant epilepsy may be a result of multiple factors. Several previous studies reported that the major vault protein (MVP) was significantly increased in epileptogenic brain tissues resected from patients with partial-onset seizures, indicating the possible involvement of MVP in drug resistance. In this article, we aimed to identify the association between single nucleotide polymorphisms (SNPs) of MVP gene and drug resistance of partial epilepsy in a Chinese Han population. A total of 510 patients with partial-onset seizures and 206 healthy controls were recruited. Among the patients, 222 were drug resistant and 288 were responsive. The selection of tagging SNPs was based on the Hapmap database and Haploview software and the genotyping was conducted on the Sequenom MassARRAY iPLEX platform. For the selected loci rs12149746, rs9938630 and rs4788186 in the MVP gene, there was no significant difference in allele or genotype distribution between the drug resistant and responsive groups, or between all of the patients and healthy controls. Linkage disequilibrium between any two loci was detected but there was no significant difference in haplotype frequency between the drug resistant and responsive groups. Our results suggest that MVP genetic polymorphisms and haplotypes may not be associated with drug resistance of partial epilepsy in the Chinese Han population. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. A comparison of occipital and temporal lobe epilepsies.

    Science.gov (United States)

    Appel, S; Sharan, A D; Tracy, J I; Evans, J; Sperling, M R

    2015-10-01

    Differentiating between occipital lobe epilepsy (OLE) and temporal lobe epilepsy (TLE) is often challenging. This retrospective case-control study compares OLE to TLE and explores markers that suggest the diagnosis of OLE. We queried the Jefferson Epilepsy Center surgery database for patients who underwent a resection that involved the occipital lobe. For each patient with OLE, three sequential case-control patients with TLE were matched. Demographic characteristics, symptoms, electrophysiological findings, imaging findings, and surgical outcome were compared. Nineteen patients with OLE and 57 patients with TLE were included in the study. Visual symptoms were unique to patients with OLE (8/19) and were not reported by patients with TLE (P Occipital interictal spikes (IIS) were found only in one-third of the patients with OLE (6/19) and in no patients with TLE (P lobe were found in five of 19 patients with OLE vs one of 57 patients with TLE (P = 0.003). IIS involved more than one lobe of the brain in most patients with OLE (11/19) but only in nine of 57 the TLE group. (P = 0.0003) Multilobar resection was needed in most patients with OLE (15/19), typically including the temporal lobe, but in only one of the patients with TLE (P Occipital lobe epilepsy is difficult to identify and may masquerade as temporal lobe epilepsy. Visual symptoms and occipital findings in the EEG suggest the diagnosis of OLE, but absence of these features, does not exclude the diagnosis. When posterior temporal EEG findings or multilobar involvement occurs, the diagnosis of OLE should be considered. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. How predictive are photosensitive epilepsy models as proof of principle trials for epilepsy?

    Science.gov (United States)

    Yuen, Eunice S M; Sims, John R

    2014-06-01

    Human photosensitive epilepsy models have been used as proof of principle (POP) trials for epilepsy. Photosensitive patients are exposed to intermittent photic stimulation and the reduction in sensitivity to the number of standard visual stimulation frequencies is used as an endpoint. The aim of this research was to quantify the predictive capabilities of photosensitive POP trials, through a survey of current literature. A literature search was undertaken to identify articles describing photosensitive POP trials. Minimally efficacious doses (MEDs) in epilepsy were compared to doses in the POP trials that produced 50-100% response (ED50-100). Ratios of these doses were calculated and summarised statistically. The search identified ten articles describing a total of 17 anti-epileptic drugs. Of these, data for both MED and ED50-100 were available for 13 anti-epileptic drugs. The average ratio of MED to ED50-100 was 0.95 (95% CI 0.60-1.30). The difference in MED to ED50-100 ratios between partial epilepsy (0.82) was not significantly different from that of generalised epilepsy (1.08) (p=0.51). Photosensitive POP trials are a useful tool to quantitatively predict efficacy in epilepsy, and can be useful as early and informative indicators in anti-epileptic drug discovery and development. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  14. Multivariate trajectories across multiple domains of health-related quality of life in children with new-onset epilepsy.

    Science.gov (United States)

    Sajobi, Tolulope T; Wang, Meng; Ferro, Mark A; Brobbey, Anita; Goodwin, Shane; Speechley, Kathy N; Wiebe, Samuel

    2017-10-01

    The diagnosis of epilepsy in children is known to impact the trajectory of their health-related quality of life (HRQOL) over time. However, there is limited knowledge about variations in longitudinal trajectories across multiple domains of HRQOL. This study aims to characterize the heterogeneity in HRQOL trajectories across multiple HRQOL domains and to evaluate predictors of differences among the identified trajectory groups in children with new-onset epilepsy. Data were obtained from the Health Related Quality of Life in Children with Epilepsy Study (HERQULES), a prospective multi-center study of 373 children newly diagnosed with new-onset epilepsy who were followed up over 2years. Child HRQOL and family factors were reported by parents, and clinical characteristics were reported by neurologists. Group-based multi-trajectory modeling was adopted to characterize longitudinal trajectories of HRQOL as measured by the individual domains of cognitive, emotional, physical, and social functioning in the 55-item Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-55). Multinomial logistic regression was used to assess potential factors that explain differences among the identified latent trajectory groups. Three distinct HRQOL trajectory subgroups were identified in children with new-onset epilepsy based on HRQOL scores: "High" (44.7%), "Intermediate" (37.0%), and "Low" (18.3%). While most trajectory groups exhibited increasing scores over time on physical and social domains, both flat and declining trajectories were noted on emotional and cognitive domains. Less severe epilepsy, an absence of cognitive and behavioral problems, lower parental depression scores, better family functioning, and fewer family demands were associated with a "Higher" or "Intermediate" HRQOL trajectory. The course of HRQOL over time in children with new-onset epilepsy appears to follow one of three different trajectories. Addressing the clinical and psychosocial determinants identified

  15. Imaging of the epilepsies

    Energy Technology Data Exchange (ETDEWEB)

    Urbach, H. [University of Bonn Medical Center, Department of Radiology/Neuroradiology, Bonn (Germany)

    2005-03-01

    Imaging of epilepsy patients is challenging, since epileptogenic lesions (defined as structural lesions causally related to the epilepsy syndrome) may be small and often do not change during life. Prior clinical information about the epilepsy syndrome and the semiology of the seizures is needed in order to plan the examination properly. The effort to detect an epileptogenic lesion is directed to partial (focal) epilepsy syndromes whereas - by definition - no lesion is identified in idiopathic epilepsies. Most patients with partial epilepsies suffer from mesial temporal lobe epilepsies. In these patients, 2- to 3-mm-thick T2-weighted and fluid-attenuated inversion-recovery (FLAIR) fast spin echo slices along or perpendicular to the temporal lobe length axis have the highest diagnostic efficacy. In contrast, in patients with extratemporal lobe epilepsies perpendicular FLAIR slices through the anatomic region, from which, due to clinical and EEG criteria, the seizures are likely to originate, are preferred. The imaging features of common epileptogenic lesions (hippocampal sclerosis, long-term epilepsy-associated tumours, focal cortical dysplasias, vascular malformations, encephalitis including limbic and Rasmussen's encephalitis, gyral scarring including ulegyria) are detailed in the second section of this paper. (orig.)

  16. Imaging of the epilepsies

    International Nuclear Information System (INIS)

    Urbach, H.

    2005-01-01

    Imaging of epilepsy patients is challenging, since epileptogenic lesions (defined as structural lesions causally related to the epilepsy syndrome) may be small and often do not change during life. Prior clinical information about the epilepsy syndrome and the semiology of the seizures is needed in order to plan the examination properly. The effort to detect an epileptogenic lesion is directed to partial (focal) epilepsy syndromes whereas - by definition - no lesion is identified in idiopathic epilepsies. Most patients with partial epilepsies suffer from mesial temporal lobe epilepsies. In these patients, 2- to 3-mm-thick T2-weighted and fluid-attenuated inversion-recovery (FLAIR) fast spin echo slices along or perpendicular to the temporal lobe length axis have the highest diagnostic efficacy. In contrast, in patients with extratemporal lobe epilepsies perpendicular FLAIR slices through the anatomic region, from which, due to clinical and EEG criteria, the seizures are likely to originate, are preferred. The imaging features of common epileptogenic lesions (hippocampal sclerosis, long-term epilepsy-associated tumours, focal cortical dysplasias, vascular malformations, encephalitis including limbic and Rasmussen's encephalitis, gyral scarring including ulegyria) are detailed in the second section of this paper. (orig.)

  17. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

    DEFF Research Database (Denmark)

    Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline

    2016-01-01

    associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were...... pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3' and 5' exons. Seizures in patients with mutations in exons 4-5 were...... more pharmacoresponsive than in patients with mutations in exons 8-15. CONCLUSIONS: SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent...

  18. Epilepsy: Is there hope?

    Directory of Open Access Journals (Sweden)

    Carlos A. M. Guerreiro

    2016-01-01

    Full Text Available Epilepsy is a highly prevalent chronic neurologic disorder and leads to social, behavioural, health and economic consequences. 'Treatment gap' varies from 10 per cent in developed countries to 75 per cent in low-income countries. Stigma and discrimination related to epilepsy are prevalent worldwide. Electroencephalography (EEG is considered the most important tool for evaluating the patient with epilepsy. Video-EEG monitoring is an important tool for confirming the seizure type and estimating the epileptogenic zone in the brain. Neuroimaging evaluation is important to determine the aetiology of the epilepsies. Genetic testing has increased the probability of identifying the causes of some types of epilepsies. Epilepsy can be treated in an affordable way with low-cost medications. Refractory epilepsies occur in approximately one-third of recently diagnosed patients with epilepsy. For this group of patients, there are options of surgical treatment, diets and neurostimulation to improve seizure control and quality of life. In poorly organized societies, there is a lack of prioritization of epilepsy in national health policies, limited resources for trained personnel and a shortage of basic antiepileptic medications. There is evidence of improvement in the understanding of epilepsy and a clear progress in the management of epileptic seizures in recent times.

  19. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Andersen, R

    1989-01-01

    as controls. Four clinical meaningful dimensions of included personality traits were identified: ixoide, ideational, obsessive-compulsive and affective features. Analyses based on the Rasch model approved of all dimensions except for affective features. The epilepsy group obtained the highest scores on all 3......Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served...... dysfunction in the epilepsy group, the mere presence of a chronic disorder with potential social stigmatization influences personality....

  20. Evaluation of an automated spike-and-wave complex detection algorithm in the EEG from a rat model of absence epilepsy.

    Science.gov (United States)

    Bauquier, Sebastien H; Lai, Alan; Jiang, Jonathan L; Sui, Yi; Cook, Mark J

    2015-10-01

    The aim of this prospective blinded study was to evaluate an automated algorithm for spike-and-wave discharge (SWD) detection applied to EEGs from genetic absence epilepsy rats from Strasbourg (GAERS). Five GAERS underwent four sessions of 20-min EEG recording. Each EEG was manually analyzed for SWDs longer than one second by two investigators and automatically using an algorithm developed in MATLAB®. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for the manual (reference) versus the automatic (test) methods. The results showed that the algorithm had specificity, sensitivity, PPV and NPV >94%, comparable to published methods that are based on analyzing EEG changes in the frequency domain. This provides a good alternative as a method designed to mimic human manual marking in the time domain.

  1. A study of idiopathic generalised epilepsy in an Irish population.

    LENUS (Irish Health Repository)

    Mullins, G M

    2012-02-03

    Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE: The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS: Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS: two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS: More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.

  2. Examining Perceived Stigma of Children with Newly-Diagnosed Epilepsy and Their Caregivers Over a Two Year Period

    OpenAIRE

    Rood, Jennifer E.; Schultz, Janet R.; Rausch, Joseph R.; Modi, Avani C.

    2014-01-01

    The purpose of this study was to examine: 1) the course of perceived epilepsy-related stigma among children newly-diagnosed with epilepsy (n=39) and their caregivers (n=97) over a two year period, 2) the influence of seizure absence/presence on children and caregivers’ perception of epilepsy-related stigma, and 3) congruence of child and caregiver perception of child epilepsy-related stigma. Participants completed a measure of perceived epilepsy-related stigma at three time points, and seizur...

  3. Epilepsy and Autism: Is there a special relationship?

    Science.gov (United States)

    Berg, Anne T.; Plioplys, Sigita

    2012-01-01

    Increasingly, there has been an interest in the association between epilepsy and autism. The high frequency of autism in some of the early-onset developmental encephalopathic epilepsies is frequently cited as evidence of the relationship between autism and epilepsy. While these specific forms of epilepsy carry a higher than expected risk of autism, most if not all of the association may be due to intellectual disability (ID). The high prevalence of interictal EEG discharges in children with autism is also cited as further evidence although errors in the diagnosis of epilepsy seem to account for at least part of those findings. The prevalence of ID is substantially elevated in children with either epilepsy or autism. In the absence of ID, there is little evidence of a substantial, if any, increased risk of autism in children with epilepsy. Further, although the reported prevalence of autism has increased over the last several years, much of this increase may be attributable to changes in diagnostic practices, conceptualization of autism in the presence of ID, and laws requiring provision of services for children with autism. In the context of these temporal trends, any further efforts to tease apart the relationships between epilepsy, ID, and autism will have to address head-on the accuracy of diagnosis of all three conditions before we can determine whether there is indeed a special relationship between autism and epilepsy. PMID:22381386

  4. Multiplex families with epilepsy

    Science.gov (United States)

    Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.

    2016-01-01

    Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies. PMID:26802095

  5. Basal levels of metabolic activity are elevated in Genetic Absence Epilepsy Rats from Strasbourg (GAERS): measurement of regional activity of cytochrome oxidase and lactate dehydrogenase by histochemistry.

    Science.gov (United States)

    Dufour, Franck; Koning, Estelle; Nehlig, Astrid

    2003-08-01

    The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are considered an isomorphic, predictive, and homologous model of human generalized absence epilepsy. It is characterized by the expression of spike-and-wave discharges in the thalamus and cortex. In this strain, basal regional rates of cerebral glucose utilization measured by the quantitative autoradiographic [(14)C]2-deoxyglucose technique display a widespread consistent increase compared to a selected strain of genetically nonepileptic rats (NE). In order to verify whether these high rates of glucose metabolism are paralleled by elevated activities of the enzymes of the glycolytic and tricarboxylic acid cycle pathways, we measured by histochemistry the regional activity of the two key enzymes of glucose metabolism, lactate dehydrogenase (LDH) for the anaerobic pathway and cytochrome oxidase (CO) for the aerobic pathway coupled to oxidative phosphorylation. CO and LDH activities were significantly higher in GAERS than in NE rats in 24 and 28 of the 30 brain regions studied, respectively. The differences in CO and LDH activity between both strains were widespread, affected all brain systems studied, and ranged from 12 to 63%. The data of the present study confirm the generalized increase in cerebral glucose metabolism in GAERS, occurring both at the glycolytic and at the oxidative step. However, they still do not allow us to understand why the ubiquitous mutation(s) generates spike-and-wave discharges only in the thalamocortical circuit.

  6. Television-provoked epilepsy in children: a follow-up survey from Isfahan, Iran.

    Science.gov (United States)

    Etemadifar, Masoud; Raoufi, Masoomeh; Maghzi, Amir-Hadi; Ebrahimi, Azadeh; Kaji-Esfahani, Mahboubeh; Mousavi, Seyed-Ali

    2008-11-01

    Television as an external stimulation can precipitate epileptic seizures. Today this kind of epilepsy is known as television epilepsy. As children spend much of their time watching television, it is important to study this type of epilepsy in this age group. This study was designed to describe the clinical and some demographic characteristics of television epilepsy in Iranian children. Patients who were diagnosed as having television epilepsy with an age less than 12 years were recruited from outpatient neurology clinics in Isfahan, Iran, from September 2002 through September 2006. We collected the case-related information including electroencephalograms, radiologic findings, and patients' history. Thirty patients with television epilepsy with the age less than 12 years were identified. Of whom 17 (56.7%) were females and 13 (43.3%) were males. The mean age at the onset of seizure was 9.9+/-2.1 years. Children had absence (3.3%), myoclonic (3.3%), and generalized tonic-clonic (93.3+/-) seizures in response to intermittent photic stimulations. Interictal epileptiform discharges in electroencephalograms were detected in 83.3%. In addition, neuroimaging findings were normal in 96.7% of the patients. In our study, 56.7% of the children had pure television epilepsy and 43.3% experienced other types of generalized seizure. During the follow-up period after initiation of variable drug treatments including valproic acid, carbamazepine, phenobarbital, clonazepam, ethosuximide, and lamotrigine all the patients had complete seizure remission. The clinical and demographic differences of our patients compared with other reports are probably due to genetic differences. In our study, it was demonstrated that carbamazepine could be used in children with television epilepsy because it had successfully terminated seizures in 43.3% of the patients.

  7. Behavior Disorders and Epilepsy

    OpenAIRE

    J Gordon Millichap

    1993-01-01

    A longitudinal study of 127 children with epilepsy aged 8-12 years and their mothers, designed to identify factors contributing to behavior problems, is reported from the Indiana University School of Nursing, Indianapolis; the Minnesota Comprehensive Epilepsy Program, Minneapolis; and the Harvard School of Public Health, Boston.

  8. Long-term outcome characteristics in mesial temporal lobe epilepsy with and without associated cortical dysplasia.

    Science.gov (United States)

    Schmeiser, B; Hammen, T; Steinhoff, B J; Zentner, J; Schulze-Bonhage, A

    2016-10-01

    The intention of our study was to identify predictive characteristics for long-term seizure control and running down phenomenon after surgical treatment of pharmacoresistant mesiotemporal lobe epilepsy (mTLE) with and without associated cortical dysplasia. Our study comprises a consecutive series of 458 patients who underwent surgical treatment for intractable mTLE at the Epilepsy Center Freiburg. Data evaluated included semiology, duration and frequency of seizures, results of presurgical diagnostics including video-EEG monitoring, MRI, PET and SPECT as well as postoperative seizure outcome. Results were evaluated forming two groups: Group A consisted of isolated mesiotemporal lesions. Group B comprised patients with mTLE and additional focal cortical dysplasia (FCD). Statistical evaluation was based on the Kaplan Meier survival analysis, using log-rank-tests and a multivariate regression model. Postoperative running down phenomenon was defined as seizure freedom after a period of gradual reduction of postoperative seizure frequency. This was compared to patients with ongoing epilepsy. Complete seizure freedom was achieved in 65.0% of investigated patients at 1year and in 56.5% at long-term follow-up of ≥5 years after surgery. Corresponding results were 64.2% and 56.8% at 1 and ≥5 years, respectively in group A and 66.4% and 56.0%, respectively in group B. Predictive for favorable postoperative outcome in the total group were younger age at surgery, shorter duration of epilepsy, absence of secondarily generalized tonic-clonic seizures (SGTCS), presence of strictly ipsilateral temporal interictal epileptiform discharges (IEDs), complete resection of the lesion as well as absence of postoperative epileptiform activity and of early postoperative seizures. In subgroup analyses, patients of group A demonstrated longer postoperative seizure-free intervals with adolescent age at surgery, short duration of epilepsy before surgery and absence of SGTCS, whereas in

  9. Epilepsy, E/I balance and GABAA receptor plasticity

    Directory of Open Access Journals (Sweden)

    Jean-Marc Fritschy

    2008-03-01

    Full Text Available GABAA receptors mediate most of the fast inhibitory transmission in the CNS. They form heteromeric complexes assembled from a large family of subunit genes. The existence of multiple GABAA receptor subtypes differing in subunit composition, localization and functional properties underlies their role for fi ne-tuning of neuronal circuits and genesis of network oscillations. The differential regulation of GABAA receptor subtypes represents a major facet of homeostatic synaptic plasticity and contributes to the excitation/inhibition (E/I balance under physiological conditions and upon pathological challenges. The purpose of this review is to discuss recent fi ndings highlighting the signifi cance of GABAA receptor heterogeneity for the concept of E/I balance and its relevance for epilepsy. Specifi cally, we address the following issues: (1 role for tonic inhibition, mediated by extrasynaptic GABAA receptors, for controlling neuronal excitability; (2 signifi cance of chloride ion transport for maintenance of the E/I balance in adult brain; and (3 molecular mechanisms underlying GABAA receptor regulation (traffi cking, posttranslational modifi cation, gene transcription that are important for homoeostatic plasticity. Finally, the relevance of these fi ndings is discussed in light of the involvement of GABAA receptors in epileptic disorders, based on recent experimental studies of temporal lobe epilepsy (TLE and absence seizures and on the identifi cation of mutations in GABAA receptor subunit genes underlying familial forms of epilepsy.

  10. Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy.

    Science.gov (United States)

    Eom, Soyong; Eun, So-Hee; Kang, Hoon-Chul; Eun, Baik-Lin; Nam, Sang Ook; Kim, Sun Jun; Chung, Hee Jung; Kwon, Soon Hak; Lee, Young-Mock; Lee, Joon Soo; Kim, Dong Wook; Oh, Kyung Ja; Kim, Heung Dong

    2014-08-01

    The aim of this study was to identify the different influencing patterns of demographic and epilepsy-related variables on various aspects of psychosocial function in pediatric epilepsy. Five hundred ninety-eight patients with pediatric epilepsy between the ages of 4 and 18 years (boys=360, 60% and girls=238, 40%) and their parents participated in the study. Parents completed the Social Maturity Scale (SMS), the Korean version of the Child Behavior Checklist (K-CBCL), and the Korean version of the Quality of Life in Childhood Epilepsy Questionnaire (K-QOLCE) to assess daily living function, behavior, and quality of life. The Children's Global Assessment Scale (CGAS) was completed by clinicians to assess general adaptive function. Demographic variables, such as age and sex of child, and epilepsy-related clinical variables, including seizure type, seizure frequency, duration of epilepsy, and number of medications, were obtained from medical records. Demographic and epilepsy-related clinical variables had a strong influence (22-32%) on the cognition-related domain such as general adaptive function, school/total competence, and quality of life for cognitive function while a comparatively smaller effect (2-16%) on the more psychological domain including behavioral, emotional, and social variables. Younger age, shorter duration of illness, and smaller number of medications showed a strong positive impact on psychosocial function in pediatric epilepsy, particularly for adaptive function, competence, and quality-of-life aspects. Given the wide range of impact of demographic and clinical variables on various facets of psychosocial functions, more specific understanding of the various aspects of factors and their particular pattern of influence may enable more effective therapeutic approaches that address both the medical and psychological needs in pediatric epilepsy. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis.

    Directory of Open Access Journals (Sweden)

    Aria Fallah

    Full Text Available OBJECTIVE: To perform a systematic review and individual participant data meta-analysis to identify preoperative factors associated with a good seizure outcome in children with Tuberous Sclerosis Complex undergoing resective epilepsy surgery. DATA SOURCES: Electronic databases (MEDLINE, EMBASE, CINAHL and Web of Science, archives of major epilepsy and neurosurgery meetings, and bibliographies of relevant articles, with no language or date restrictions. STUDY SELECTION: We included case-control or cohort studies of consecutive participants undergoing resective epilepsy surgery that reported seizure outcomes. We performed title and abstract and full text screening independently and in duplicate. We resolved disagreements through discussion. DATA EXTRACTION: One author performed data extraction which was verified by a second author using predefined data fields including study quality assessment using a risk of bias instrument we developed. We recorded all preoperative factors that may plausibly predict seizure outcomes. DATA SYNTHESIS: To identify predictors of a good seizure outcome (i.e. Engel Class I or II we used logistic regression adjusting for length of follow-up for each preoperative variable. RESULTS: Of 9863 citations, 20 articles reporting on 181 participants were eligible. Good seizure outcomes were observed in 126 (69% participants (Engel Class I: 102(56%; Engel class II: 24(13%. In univariable analyses, absence of generalized seizure semiology (OR = 3.1, 95%CI = 1.2-8.2, p = 0.022, no or mild developmental delay (OR = 7.3, 95%CI = 2.1-24.7, p = 0.001, unifocal ictal scalp electroencephalographic (EEG abnormality (OR = 3.2, 95%CI = 1.4-7.6, p = 0.008 and EEG/Magnetic resonance imaging concordance (OR = 4.9, 95%CI = 1.8-13.5, p = 0.002 were associated with a good postoperative seizure outcome. CONCLUSIONS: Small retrospective cohort studies are inherently prone to bias, some of which are overcome using individual participant data. The

  12. [Association between autism spectrum disorder and epilepsy in children].

    Science.gov (United States)

    Mei, Song-Li; Zhang, Zhao; Liu, Xin; Gao, Ting-Ting; Peng, Xin-Xian

    2017-05-01

    To examine the association between autism spectrum disorder (ASD) and epilepsy in children. A total of 190 children with ASD were enrolled. A self-designed questionnaire, Childhood Autism Rating Scale, and Autism Behavior Checklist were used to determine the association between ASD and epilepsy. Among the 190 children with ASD, 20 (10.5%) had epileptic seizures and 12 (6.3%) were diagnosed with epilepsy. The rates of abnormal physical development and hearing disorders before the age of one year were significantly higher in ASD children with epileptic seizures than in those without epileptic seizures (Pchildren diagnosed with epilepsy and those receiving epilepsy treatment had a significantly increased rate of abnormal physical development before the age of one year (Pchildren with epileptic seizures had poorer sensory responses and behavioral competencies than those without epileptic seizures (PEpilepsy treatment have a positive effect on behavioral competencies in ASD children (Pepilepsy in children. The possibility of the comorbidity between ASD and epilepsy may be assessed according to the status of growth and development before the age of one year, sensory responses and behavioral competencies, and the presence or absence of epileptic seizures.

  13. Familial risk of epilepsy: a population-based study

    Science.gov (United States)

    Peljto, Anna L.; Barker-Cummings, Christie; Vasoli, Vincent M.; Leibson, Cynthia L.; Hauser, W. Allen; Buchhalter, Jeffrey R.

    2014-01-01

    Almost all previous studies of familial risk of epilepsy have had potentially serious methodological limitations. Our goal was to address these limitations and provide more rigorous estimates of familial risk in a population-based study. We used the unique resources of the Rochester Epidemiology Project to identify all 660 Rochester, Minnesota residents born in 1920 or later with incidence of epilepsy from 1935–94 (probands) and their 2439 first-degree relatives who resided in Olmsted County. We assessed incidence of epilepsy in relatives by comprehensive review of the relatives’ medical records, and estimated age-specific cumulative incidence and standardized incidence ratios for epilepsy in relatives compared with the general population, according to proband and relative characteristics. Among relatives of all probands, cumulative incidence of epilepsy to age 40 was 4.7%, and risk was increased 3.3-fold (95% confidence interval 2.75–5.99) compared with population incidence. Risk was increased to the greatest extent in relatives of probands with idiopathic generalized epilepsies (standardized incidence ratio 6.0) and epilepsies associated with intellectual or motor disability presumed present from birth, which we denoted ‘prenatal/developmental cause’ (standardized incidence ratio 4.3). Among relatives of probands with epilepsy without identified cause (including epilepsies classified as ‘idiopathic’ or ‘unknown cause’), risk was significantly increased for epilepsy of prenatal/developmental cause (standardized incidence ratio 4.1). Similarly, among relatives of probands with prenatal/developmental cause, risk was significantly increased for epilepsies without identified cause (standardized incidence ratio 3.8). In relatives of probands with generalized epilepsy, standardized incidence ratios were 8.3 (95% confidence interval 2.93–15.31) for generalized epilepsy and 2.5 (95% confidence interval 0.92–4.00) for focal epilepsy. In relatives of

  14. Submikroskopiske kromosomforandringer disponerer til epilepsi

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre; Hjalgrim, Helle

    2011-01-01

    Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic ...

  15. Controlling absence seizures by deep brain stimulus applied on substantia nigra pars reticulata and cortex

    International Nuclear Information System (INIS)

    Hu, Bing; Wang, Qingyun

    2015-01-01

    Epilepsy is a typical neural disease in nervous system, and the control of seizures is very important for treating the epilepsy. It is well known that the drug treatment is the main strategy for controlling the epilepsy. However, there are about 10–15 percent of patients, whose seizures cannot be effectively controlled by means of the drug. Alternatively, the deep brain stimulus (DBS) technology is a feasible method to control the serious seizures. However, theoretical explorations of DBS are still absent, and need to be further made. Presently, we will explore to control the absence seizures by introducing the DBS to a basal ganglia thalamocortical network model. In particular, we apply DBS onto substantia nigra pars reticulata (SNr) and the cortex to explore its effects on controlling absence seizures, respectively. We can find that the absence seizure can be well controlled within suitable parameter ranges by tuning the period and duration of current stimulation as DBS is implemented in the SNr. And also, as the DBS is applied onto the cortex, it is shown that for the ranges of present parameters, only adjusting the duration of current stimulation is an effective control method for the absence seizures. The obtained results can have better understanding for the mechanism of DBS in the medical treatment.

  16. Approaches to refractory epilepsy

    Directory of Open Access Journals (Sweden)

    Jerome Engel

    2014-01-01

    Full Text Available Epilepsy is one of the most common serious neurological conditions, and 30 to 40% of people with epilepsy have seizures that are not controlled by medication. Patients are considered to have refractory epilepsy if disabling seizures continue despite appropriate trials of two antiseizure drugs, either alone or in combination. At this point, patients should be referred to multidisciplinary epilepsy centers that perform specialized diagnostic testing to first determine whether they are, in fact, pharmacoresistant, and then, if so, offer alternative treatments. Apparent pharmacoresistance can result from a variety of situations, including noncompliance, seizures that are not epileptic, misdiagnosis of the seizure type or epilepsy syndrome, inappropriate use of medication, and lifestyle issues. For patients who are pharmacoresistant, surgical treatment offers the best opportunity for complete freedom from seizures. Surgically remediable epilepsy syndromes have been identified, but patients with more complicated epilepsy can also benefit from surgical treatment and require more specialized evaluation, including intracranial EEG monitoring. For patients who are not surgical candidates, or who are unwilling to consider surgery, a variety of other alternative treatments can be considered, including peripheral or central neurostimulation, ketogenic diet, and complementary and alternative approaches. When such alternative treatments are not appropriate or effective, quality of life can still be greatly improved by the psychological and social support services offered by multidisciplinary epilepsy centers. A major obstacle remains the fact that only a small proportion of patients with refractory epilepsy are referred for expert evaluation and treatment.

  17. Comorbidity of tics and epilepsy in children and adolescents

    Directory of Open Access Journals (Sweden)

    N. A. Ermolenko

    2013-01-01

    Full Text Available Tics are the most common forms of hyperkinesis among children and adolescents, the etiology of which is not fully clear. A study has shown a high comorbidity of tic disorders and epilepsy, as evidenced by video-EEG monitoring. In patients with tics even in the absence of epileptic seizures, epileptiform activity is an adverse predictor and a determinant of the potential risk of comorbid epilepsy especially during neuroleptic therapy. Antiepileptic drugs are the drugs of choice to treat this category of patients.

  18. Comorbidities associated with epilepsy and headaches

    Directory of Open Access Journals (Sweden)

    Thalles P. Ferreira

    2012-04-01

    Full Text Available Comorbidities are often associated with chronic neurological diseases, such as headache and epilepsy. OBJECTIVES: To identify comorbidities associated with epilepsy and headaches, and to determine possible drug interactions. METHODS: A standardized questionnaire with information about type of epilepsy/headache, medical history, and medication was administered to 80 adult subjects (40 with epilepsy and 40 with chronic headache. RESULTS: Patients with epilepsy had an average of two comorbidities and those with headache of three. For both groups, hypertension was the most prevalent. On average, patients with epilepsy were taking two antiepileptic medications and those with headache were taking only one prophylactic medication. Regarding concomitant medications, patients with epilepsy were in use, on average, of one drug and patients with headache of two. CONCLUSIONS: Patients with chronic neurological diseases, such as epilepsy and headaches, have a high number of comorbidities and they use many medications. This may contribute to poor adherence and interactions between different medications.

  19. Seizure precipitants (triggering factors) in patients with epilepsy.

    Science.gov (United States)

    Ferlisi, Monica; Shorvon, Simon

    2014-04-01

    adult epilepsy clinic population: (a) to identify the frequency of seizure precipitants (triggering factors) and their relative frequency in those with psychiatric disorders, and in those in remission or with active epilepsy, differences in frequency with regard to gender, seizure duration, number of drugs taken; (b) to determine which precipitants patients most commonly report; and (c) to identify differences in the distribution of precipitants among generalized, temporal, and extratemporal epilepsies. Consecutive patients attending a tertiary-care epilepsy clinic were prospectively and an open personal interview to identify and characterize seizure precipitants. Information about the epilepsy and clinical characteristics of patients was collected during the interview and from medical records. Of 104 patients, 97% cited at least one precipitant. Stress, sleep deprivation, and fatigue were the most frequently reported precipitants. Patients with psychological comorbidities reported a greater percentage of seizures with seizure precipitants. Patients with idiopathic generalized epilepsy seemed to be more sensitive to seizures during awakening and sleep deprivation, patients with extratemporal epilepsy reported more frequent seizures during sleep. There were no differences in frequency or type of seizure precipitants with regard to gender, seizure duration or frequency, and the number of antiepileptic drugs taken. The findings may have implications for the better management of epilepsy by increasing a focus on nonpharmacological therapy. The implications of the findings for nosology and causation of epilepsy are also briefly discussed. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Genetic absence rats have a lower threshold for limbic type of afterdischarges: a cortical stimulation study

    NARCIS (Netherlands)

    Tolmacheva, E.A.; Luijtelaar, E.L.J.M. van; Chepurnov, S.A.; Mares, P.; Luijtelaar, E.L.J.M. van; Kuznetsova, G.D.; Coenen, A.M.L.; Chepurnov, S.A.

    2004-01-01

    Classical theories on absence epilepsy suggest that a hyperexcitable cortex is a precondition for the occurrence of absence seizures. In the present experiment seizure thresholds and cortical epileptic afterdischarges (AD) were determined in a comparative study of genetically epileptic WAG/Rij,

  1. Epilepsy-associated stigma in Bolivia: a community-based study among the Guarani population: an International League Against Epilepsy/International Bureau for Epilepsy/World Health Organization Global Campaign Against Epilepsy Regional Project.

    Science.gov (United States)

    Bruno, Elisa; Bartoloni, Alessandro; Sofia, Vito; Rafael, Florentina; Magnelli, Donata; Padilla, Sandra; Quattrocchi, Graziella; Bartalesi, Filippo; Segundo, Higinio; Zappia, Mario; Preux, Pierre-Marie; Nicoletti, Alessandra

    2012-09-01

    Epilepsy is associated with a significant burden of social stigma that appears to be influenced by psychosocial and cultural factors. Stigma has a negative effect on the management of people with epilepsy (PWE), representing one of the major factors that contribute to the burden of epilepsy. To assess stigma perception among the Guarani population, one hundred thirty-two people living in Guaraní communities in Bolivia were invited to complete the Stigma Scale of Epilepsy questionnaire. The main determinants of stigma identified were: the fear linked to loss of control, the feelings of sadness and pity toward PWE, the difficulties faced by PWE in the professional and relationship fields, the level of education and type of seizure. Our study pointed out that, in this population, PWE face difficulties in everyday life because of epilepsy-associated stigma and the results attest to the importance of promoting community-based educational programs aimed at reducing the stigmatization process. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Coeliac disease and epilepsy.

    LENUS (Irish Health Repository)

    Cronin, C C

    2012-02-03

    Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.

  3. Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.

    Directory of Open Access Journals (Sweden)

    Dalia Kasperavičiūtė

    Full Text Available Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients.Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.

  4. The epilepsy of Fyodor Mikhailovitch Dostoevsky (1821-1881).

    Science.gov (United States)

    Voskuil, P H

    1983-12-01

    Over 100 years ago, on the 27th of January 1881, Fyodor Mikhailovitch Dostoevsky died. Since that time, many biographies, monographs, memoirs, and, to a lesser extent, articles in the medical literature have discussed the fact that Dostoevsky was a patient with epilepsy. An attempt is made here to integrate the details of his illness into a medical case history, as we now do for every patient who visits a physician for the first time. The information pertinent to the case history includes: a description of all seizures, frequency of seizures, provocative factors, course of the disease, treatment, and family history. Even though we do not have the benefits of the results of electroencephalography (invented by Hans Berger in 1929), classification of the type of epilepsy Dostoevsky had is attempted. The existence or absence of the so-called ecstatic aura is crucial to such classification. Based on the data, it is likely that Dostoevsky suffered from partial complex epilepsy with secondarily generalized nocturnal seizures rather than primary generalized epilepsy.

  5. Musical and poetic creativity and epilepsy.

    Science.gov (United States)

    Hesdorffer, Dale C; Trimble, Michael

    2016-04-01

    Associations between epilepsy and musical or poetic composition have received little attention. We reviewed the literature on links between poetic and musical skills and epilepsy, limiting this to the Western canon. While several composers were said to have had epilepsy, John Hughes concluded that none of the major classical composers thought to have had epilepsy actually had it. The only composer with epilepsy that we could find was the contemporary composer, Hikari Oe, who has autism and developed epilepsy at age 15years. In his childhood years, his mother found that he had an ability to identify bird sound and keys of songs and began teaching him piano. Hikari is able to compose in his head when his seizures are not severe, but when his seizures worsen, his creativity is lost. Music critics have commented on the simplicity of his musical composition and its monotonous sound. Our failure to find evidence of musical composers with epilepsy finds parallels with poetry where there are virtually no established poets with epilepsy. Those with seizures include Lord George Byron in the setting of terminal illness, Algernon Swinburne who had alcohol-related seizures, Charles Lloyd who had seizures and psychosis, Edward Lear who had childhood onset seizures, and Vachel Lindsay. The possibility that Emily Dickinson had epilepsy is also discussed. It has not been possible to identify great talents with epilepsy who excel in poetic or musical composition. There are few published poets with epilepsy and no great composers. Why is this? Similarities between music and poetry include meter, tone, stress, rhythm, and form, and much poetry is sung with music. It is likely that great musical and poetic compositions demand a greater degree of concentration and memory than is possible in epilepsy, resulting in problems retaining a musical and mathematical structure over time. The lack of association between recognizable neuropsychiatric disorders and these skills is a gateway to

  6. Intractable seizures after a lengthy remission in childhood-onset epilepsy.

    Science.gov (United States)

    Camfield, Peter R; Camfield, Carol S

    2017-12-01

    To establish the risk of subsequent intractable epilepsy after ≥2, ≥5, and ≥10 years of remission in childhood-onset epilepsy. From the Nova Scotia childhood-onset epilepsy population-based cohort patients with all types of epilepsy were selected with ≥20 years follow-up from seizure onset (incidence cases). Children with childhood absence epilepsy were excluded. The rate of subsequent intractable epilepsy was then studied for patients with ≥5 years remission on or off AED treatment and compared with the rate for those with ≥2 and ≥10 years of remission. Three hundred eighty-eight eligible patients had ≥20 years follow-up (average 27.7 ± (standard deviation) 4 years) until they were an average of 34 ± 6.5 years of age. Overall, 297 (77%) had a period of ≥5 years of seizure freedom (average 21.2 ± 8 years), with 90% of these remissions continuing to the end of follow-up. Seizures recurred in 31 (10%) and were intractable in 7 (2%). For the 332 with a remission of ≥2 years seizure-free, 6.9% subsequently developed intractable epilepsy (p = 0.001). For the 260 with ≥10 years remission, 0.78% subsequently developed intractable epilepsy (p = 0.25 compared with ≥5 years remission). Even after ≥5 or ≥10 years of seizure freedom, childhood-onset epilepsy may reappear and be intractable. The risk is fortunately small, but for most patients it is not possible to guarantee a permanent remission. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  7. Quantitative EEG and Current Source Density Analysis of Combined Antiepileptic Drugs and Dopaminergic Agents in Genetic Epilepsy: Two Case Studies.

    Science.gov (United States)

    Emory, Hamlin; Wells, Christopher; Mizrahi, Neptune

    2015-07-01

    Two adolescent females with absence epilepsy were classified, one as attention deficit and the other as bipolar disorder. Physical and cognitive exams identified hypotension, bradycardia, and cognitive dysfunction. Their initial electroencephalograms (EEGs) were considered slightly slow, but within normal limits. Quantitative EEG (QEEG) data included relative theta excess and low alpha mean frequencies. A combined treatment of antiepileptic drugs with a catecholamine agonist/reuptake inhibitor was sequentially used. Both patients' physical and cognitive functions improved and they have remained seizure free. The clinical outcomes were correlated with statistically significant changes in QEEG measures toward normal Z-scores in both anterior and posterior regions. In addition, low resolution electromagnetic tomography (LORETA) Z-scored source correlation analyses of the initial and treated QEEG data showed normalized patterns, supporting a neuroanatomic resolution. This study presents preliminary evidence for a neurophysiologic approach to patients with absence epilepsy and comorbid disorders and may provide a method for further research. © EEG and Clinical Neuroscience Society (ECNS) 2014.

  8. Nonseizure SUDEP: Sudden unexpected death in epilepsy without preceding epileptic seizures.

    Science.gov (United States)

    Lhatoo, Samden D; Nei, Maromi; Raghavan, Manoj; Sperling, Michael; Zonjy, Bilal; Lacuey, Nuria; Devinsky, Orrin

    2016-07-01

    To describe the phenomenology of monitored sudden unexpected death in epilepsy (SUDEP) occurring in the interictal period where death occurs without a seizure preceding it. We report a case series of monitored definite and probable SUDEP where no electroclinical evidence of underlying seizures was found preceding death. Three patients (two definite and one probable) had SUDEP. They had a typical high SUDEP risk profile with longstanding intractable epilepsy and frequent generalized tonic-clonic seizures (GTCS). All patients had varying patterns of respiratory and bradyarrhythmic cardiac dysfunction with profound electroencephalography (EEG) suppression. In two patients, patterns of cardiorespiratory failure were similar to those seen in some patients in the Mortality in Epilepsy Monitoring Units Study (MORTEMUS). SUDEP almost always occur postictally, after GTCS and less commonly after a partial seizure. Monitored SUDEP or near-SUDEP cases without a seizure have not yet been reported in literature. When nonmonitored SUDEP occurs in an ambulatory setting without an overt seizure, the absence of EEG information prevents the exclusion of a subtle seizure. These cases confirm the existence of nonseizure SUDEP; such deaths may not be prevented by seizure detection-based devices. SUDEP risk in patients with epilepsy may constitute a spectrum of susceptibility wherein some are relatively immune, death occurs in others with frequent GTCS with one episode of seizure ultimately proving fatal, while in others still, death may occur even in the absence of a seizure. We emphasize the heterogeneity of SUDEP phenomena. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  9. Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

    Directory of Open Access Journals (Sweden)

    Paul Dunn

    2018-02-01

    Full Text Available Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated for several decades, with several mutations in specific genes identified that have increased our understanding of the genetic influence on epilepsies. With 70-80% of epilepsy cases identified to have a genetic cause, there are now hundreds of genes identified to be associated with epilepsy syndromes which can be analyzed using next generation sequencing (NGS techniques such as targeted gene panels, whole exome sequencing (WES and whole genome sequencing (WGS. For effective use of these methodologies, diagnostic laboratories and clinicians require information on the relevant workflows including analysis and sequencing depth to understand the specific clinical application and diagnostic capabilities of these gene sequencing techniques. As epilepsy is a complex disorder, the differences associated with each technique influence the ability to form a diagnosis along with an accurate detection of the genetic etiology of the disorder. In addition, for diagnostic testing, an important parameter is the cost-effectiveness and the specific diagnostic outcome of each technique. Here, we review these commonly used NGS techniques to determine their suitability for application to epilepsy genetic diagnostic testing.

  10. Does facial attractiveness influence perception of epilepsy diagnosis? An insight into stigma in epilepsy.

    Science.gov (United States)

    Ristić, Aleksandar J; Jovanović, Olja; Popadić, Dragan; Pađen, Višnja; Moosa, Ahsan N V; Krivokapić, Ana; Parojčić, Aleksandra; Berisavac, Ivana; Ilanković, Andrej; Baščarević, Vladimir; Vojvodić, Nikola; Sokić, Dragoslav

    2017-12-01

    Using a group of young healthy individuals and patients with multiple sclerosis (pMS), we aimed to investigate whether the physical attractiveness judgment affects perception of epilepsy. We tested hypothesis that subjects, in the absence of relevant clues, would catch upon the facial attractiveness when asked to speculate which person suffers epilepsy and select less attractive choices. Two photo-arrays (7 photos for each gender) selected from the Chicago Face Database (180 neutral faces of Caucasian volunteers with unknown medical status) were shown to study participants. Photos were evenly distributed along a continuum of attractiveness that was estimated by independent raters in prestudy stage. In each photo-array, three photos had rating 1-3 (unattractive), one photo had rating 4 (neutral), and three photos had rating 5-7 (attractive). High-quality printed photo-arrays were presented to test subjects, and they were asked to select one person from each photo-array "who has epilepsy". Finally, all subjects were asked to complete questionnaire of self-esteem and 19-item Scale of stereotypes toward people with epilepsy. In total, 71 students of psychology, anthropology, or andragogy (mean age: 21.6±1.7years; female: 85.9%) and 70 pMS (mean age: 37.9±8years; female: 71.4%) were tested. Majority of students or pMS had no previous personal experience with individuals with epilepsy (63.4%; 47.1%, p=0.052). Male photo was selected as epileptic in the following proportions: students - 84.5% unattractive, 8.5% neutral, and 7% attractive; pMS - 62.9% unattractive, 8.6% neutral, and 28.6% attractive (p=0.003). Female photo was selected as epileptic in the following proportions: students - 38% unattractive, 52.1% neutral, and 9.9% attractive; pMS - 32.9% unattractive, 34.3% neutral, and 32.9% attractive (0.003). Both groups showed very low potential for stigmatization: significantly lower in pMS in 10 items. Patients with multiple sclerosis showed significantly higher

  11. The Music Student with Epilepsy

    Science.gov (United States)

    Murdock, Matthew C.; Morgan, Joseph A.; Laverghetta, Thomas S.

    2012-01-01

    The teacher-student relationship can afford the music educator an opportunity to be the first to identify behaviors associated with epilepsy. A case of a student with epilepsy, based on the authors' experience, is described in which the music educators were the first and only individuals to become aware of a change in the student's behavior, after…

  12. [Contemporary opinions on classification, pathogenesis and treatment of drug-resistant epilepsy].

    Science.gov (United States)

    Jóźwiak, Sergiusz

    2007-01-01

    Epilepsy is one of the most frequent neurological disorders, both in children and adult persons. About 0.5-1% of general population suffer from epilepsy, which means that about 50 million people in the world are affected. First years of life and very late adulthood are periods in human's life particularly predisposing to epilepsy. Repetitive epileptic seizures may cause many life-threatening situations and significantly lower patient's quality of life. To the most serious complications belong status epilepticus and sudden unexpected deaths due to epilepsy (SUDEP). Absences from work or school caused by seizures, difficulties in social life, frequent injuries and necessity of polytherapy are also important for patients. All these factors result in low self-esteem and poor quality of life. The main aim of the treatment was control of epileptic seizures. However, despite of new antiepileptic drugs developed almost every year, in one third of all patients with epilepsy seizures remain out of control. Those patients are regarded to have "drug-resistant epilepsy". Despite of significant scale of the problem, there is no one definition of the phenomenon. In the presented review the authors outline current definitions, recent opinions on pathogenesis and risk factors, and provide practical rules of pharmacotherapy of epilepsy, which should help to restrict drug-resistancy.

  13. Absence of early epileptiform abnormalities predicts lack of seizures on continuous EEG.

    Science.gov (United States)

    Shafi, Mouhsin M; Westover, M Brandon; Cole, Andrew J; Kilbride, Ronan D; Hoch, Daniel B; Cash, Sydney S

    2012-10-23

    To determine whether the absence of early epileptiform abnormalities predicts absence of later seizures on continuous EEG monitoring of hospitalized patients. We retrospectively reviewed 242 consecutive patients without a prior generalized convulsive seizure or active epilepsy who underwent continuous EEG monitoring lasting at least 18 hours for detection of nonconvulsive seizures or evaluation of unexplained altered mental status. The findings on the initial 30-minute screening EEG, subsequent continuous EEG recordings, and baseline clinical data were analyzed. We identified early EEG findings associated with absence of seizures on subsequent continuous EEG. Seizures were detected in 70 (29%) patients. A total of 52 patients had their first seizure in the initial 30 minutes of continuous EEG monitoring. Of the remaining 190 patients, 63 had epileptiform discharges on their initial EEG, 24 had triphasic waves, while 103 had no epileptiform abnormalities. Seizures were later detected in 22% (n = 14) of studies with epileptiform discharges on their initial EEG, vs 3% (n = 3) of the studies without epileptiform abnormalities on initial EEG (p monitoring is necessary.

  14. Seizure drawings: insight into the self-image of children with epilepsy.

    Science.gov (United States)

    Stafstrom, Carl E; Havlena, Janice

    2003-02-01

    Epilepsy is a chronic disorder that is associated with numerous psychological challenges, especially in children. Drawings have been underutilized as a method to obtain insight into psychological issues in children with epilepsy. We asked 105 children with epilepsy, ages 5 to 18 years, to draw a picture of what it is like to have a seizure. Across ages and epilepsy syndromes, the drawings showed evidence of impaired self-concept, low self-esteem, and a sense of helplessness and vulnerability. Overall, the drawings of human figures were less developed than expected for chronological age. In some drawings, indicators of underlying depression were found. When considered by epilepsy syndrome or seizure type, some specific artistic features were noted. Children with simple partial (motor) seizures drew distorted body parts, especially limbs. Those with complex partial seizures depicted sensory symptoms and mental status changes such as confusion. Children with generalized tonic-clonic seizures showed shaking extremities. Drawings by children with absence seizures illustrated mainly staring. In conclusion, drawings are a powerful method to examine the self-concept of children with epilepsy and gain insight into their feelings about themselves and their world.

  15. Focal epilepsy in the Belgian shepherd

    DEFF Research Database (Denmark)

    Berendt, Mette; Gulløv, Christina Hedal; Fredholm, Merete

    2009-01-01

    and deceased) were ascertained through a telephone interview using a standardised questionnaire regarding seizure history and phenomenology. Living dogs were invited to a detailed clinical evaluation. Litters more than five years of age, or where epilepsy was present in all offspring before the age of five......, were included in the calculations of inheritance. results: Out of 199 family members, 66 dogs suffered from epilepsy. The prevalence of epilepsy in the family was 33%. Fifty-five dogs experienced focal seizures with or without secondary generalisation, while four dogs experienced primary generalised...... seizures. In seven dogs, seizures could not be classified. The mode of inheritance of epilepsy was simple Mendelian. CLINICAL SIGNIFICANCE: This study identified that the Belgian shepherd suffers from genetically transmitted focal epilepsy. The seizure phenomenology expressed by family members have...

  16. Epilepsi

    DEFF Research Database (Denmark)

    Sabers, Anne; Kjær, Troels W

    2014-01-01

    Epilepsy affects around 33,000 people in Denmark. The classification of the epilepsies is currently under revision and the clinical course of the disease depends on the underlying aetiology. Diagnostic evaluation includes EEG and often long-term video-EEG monitoring to ensure the diagnosis and clas......-sification. More than two thirds of patients with epilepsy can obtain complete seizure control. The remainders, counting around 12.000 patients in Denmark, having medical refractory epilepsy should be considered for other treatment options; epilepsy surgery or other non-pharmacological treatment....

  17. Sudden Unexpected Death in Epilepsy Among Patients With Benign Childhood Epilepsy With Centrotemporal Spikes.

    Science.gov (United States)

    Doumlele, Kyra; Friedman, Daniel; Buchhalter, Jeffrey; Donner, Elizabeth J; Louik, Jay; Devinsky, Orrin

    2017-06-01

    Children with benign epilepsy with centrotemporal spikes (BECTS) have traditionally been considered to have a uniformly good prognosis. However, benign may be a misnomer because BECTS is linked to cognitive deficits, a more severe phenotype with intractable seizures, and the potential for sudden unexpected death in epilepsy (SUDEP). To determine if cases of BECTS are present in the North American SUDEP Registry (NASR). The NASR is a clinical and biospecimen repository established in 2011 to promote SUDEP research. The NASR database, which includes medical records, results of electroencephalographic tests, and interviews with family members of patients with epilepsy who died suddenly without other identifiable causes of death, was queried from June 3, 2011, to June 3, 2016, for cases of BECTS. The patients with epilepsy had died suddenly without other identifiable causes of death (eg, drowning, trauma, exposure to toxic substances, or suicide); SUDEP classification was determined by the consensus of 2 epileptologists. Cases of SUDEP among children who received a diagnosis of BECTS among patients reported in the NASR. Three boys (median age at death, 12 years; range, 9-13 years) who received a diagnosis of BECTS by their pediatric epileptologist or neurologists were identified among 189 cases reported in the NASR. The median age of epilepsy onset was 5 years (range, 3-11 years), and the median duration of epilepsy was 4 years (range, 1-10 years). Two deaths were definite SUDEP, and 1 was probable SUDEP. Independent review of clinical and electroencephalographic data supported the diagnosis of BECTS in all 3 patients. None of the patients was prescribed antiseizure drugs, either owing to physician recommendation or mutual decision by the physician and parents. All 3 patients were found dead in circumstances typical of SUDEP. The 3 patients spanned the spectrum of BECTS severity: 1 had only a few seizures, 1 had more than 30 focal motor seizures, and 1 had 4 witnessed

  18. [Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].

    Science.gov (United States)

    Tacke, M; Neubauer, B A; Gerstl, L; Roser, T; Rémi, J; Borggraefe, I

    2017-12-01

    Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance. This publication presents the arguments in favour of a broad use of genetic investigations for children with epilepsies. Several diseases where a genetic diagnosis does in fact have direct therapeutic consequences are mentioned. In addition, the indirect impact of an established etiology, encompassing the avoidance of unnecessary diagnostic measures, possibility of genetic counselling, and the easing of the psychologic burden for the caregivers, should not be underestimated. The arguments in favour of broad genetic diagnostics prevail notwithstanding the lack of relevant new developments regarding the therapy.

  19. The role of cannabinoids and endocannabinoid system in the treatment of epilepsy

    Directory of Open Access Journals (Sweden)

    Pędracka Monika

    2015-12-01

    Full Text Available Introduction. The treatment of epilepsy is still a major challenge. Despite the introduction of many new antiepileptic drugs, approximately 30% of patients still remain drug resistant. In the absence of a satisfactory therapy outcome, which is sometimes associated with numerous side effects, there is a need for new and effective drugs with low toxicity. Cannabinoids have been shown in preliminary animal model studies and in studies of patients with epilepsy to have antiepileptic activity.

  20. Cost of epilepsy: a systematic review.

    Science.gov (United States)

    Strzelczyk, Adam; Reese, Jens Peter; Dodel, Richard; Hamer, Hajo M

    2008-01-01

    The objective of this review was to overview published cost-of-illness (COI) studies of epilepsy and their methodological approaches. Epilepsy imposes a substantial burden on individuals and society as a whole. The mean prevalence of epilepsy is estimated at 0.52% in Europe, 0.68% in the US, and peaks up to 1.5% in developing countries. Estimation of the economic burden of epilepsy is of pivotal relevance to enable a rational distribution of healthcare resources. This is especially so with the introduction of the newer antiepileptic drugs (AEDs), the marketing of vagal-nerve stimulators and the resurgence of new surgical treatment options, which have the potential to considerably increase the costs of treating epilepsy.A systematic literature review was performed to identify studies that evaluated direct and indirect costs of epilepsy. Using a standardized assessment form, information on the study design, methodological framework and data sources were extracted from each publication and systematically reported. We identified 22 studies worldwide on costs of epilepsy. The majority of the studies reflected the costs of epilepsy in Europe (three studies each for the UK and Italy, one study each for Germany, the Netherlands, Switzerland, France and the EU) and the US (four studies), but studies were also available from India (two), Hong Kong, Oman, Burundi, Chile and Mexico. The studies utilized different frameworks to evaluate costs. All used a bottom-up approach; however, only 12 studies (55%) evaluated direct as well as indirect costs. The range for the mean annual direct costs lay between 40 International Dollar purchasing power parities (PPP-$) in rural Burundi and PPP-$4748 (adjusted to 2006 values) in a German epilepsy centre. Recent studies suggest AEDs are becoming the main contributor to direct costs. The mean indirect costs ranged between 12% and 85% of the total annual costs. Epilepsy is a cost-intensive disorder. A reliable comparison of the different COI

  1. Red flags in epilepsy surgery: Identifying the patients who pay a high cognitive price for an unsuccessful surgical outcome.

    Science.gov (United States)

    Baxendale, Sallie; Thompson, Pamela

    2018-01-01

    Preoperative estimates of cognitive and seizure outcome must be as accurate as possible if the candidate is to make an informed decision about epilepsy surgery. Significant declines in memory function are reported in approximately 30% of temporal lobe surgery patients. The percentage varies according to the ways in which a postoperative deterioration is defined but since the majority of outcome studies do not take into account the patient's capacity to deteriorate if they are functioning at or close to the floor of a memory test prior to surgery, the published percentages may be an underrepresentation of the true extent of memory decline following epilepsy surgery. We examined the cognitive 'cost' of epilepsy surgery in a consecutive series of 474 patients who underwent elective surgery for medically intractable epilepsy. All patients underwent a presurgical assessment prior to and 1year after the surgery. Reliable change indices were used to identify significant postoperative memory decline. Postoperative outcome was dichotomized using the ILAE 2008 classification. All patients in class one were classified as seizure-free (67.5% of the sample). Excluding patients already functioning at or below the 2nd percentile on standardized memory tests, 37.8% experienced a significant postoperative decline in memory function. Twelve percent experienced the 'double hit' of significant postoperative memory decline and ongoing seizures following surgery. Patients with pathologies other than hippocampal sclerosis and with signs of limited cognitive reserve, both in terms of memory function and overall intellectual ability were most likely to suffer a double hit. Our results indicate that caution should be exercised when operating on these patients and preoperative counseling should be tailored to reflect the likely risk/benefit ratio of a temporal lobe resection for medically intractable epilepsy in this group. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Epilepsy genetics: clinical beginnings and social consequences.

    Science.gov (United States)

    Johnston, J A; Rees, M I; Smith, P E M

    2009-07-01

    The approach to epilepsy care has transformed in the last 30 years, with more and better anti-epileptic medications, improved cerebral imaging and increased surgical options. Alongside this, developments in neuroscience and molecular genetics have furthered the understanding of epileptogenesis. Future developments in pharmacogenomics hold the promise of antiepileptic drugs matched to specific genotypes. Despite this rapid progress, one-third of epilepsy patients remain refractory to medication, with their seizures impacting upon day-to-day activity, social well-being, independence, economic output and quality of life. International genome collaborations, such as HapMap and the Welcome Trust Case-Control Consortium single nucleotide polymorphism (SNP) mapping project have identified common genetic variations in diseases of major public health importance. Such genetic signposts should help to identify at-risk populations with a view to producing more effective pharmaceutical treatments. Neurological disorders, despite comprising one-fifth of UK acute medical hospital admissions, are surprisingly under-represented in these projects. Epilepsy is the commonest serious neurological disorder worldwide. Although physically, psychologically, socially and financially disabling, it rarely receives deserved attention from physicians, scientists and governmental bodies. As outlined in this article, research into epilepsy genetics presents unique challenges. These help to explain why the identification of its complex genetic traits has lagged well behind other disciplines, particularly the efforts made in neuropsychiatric disorders. Clinical beginnings must underpin any genetic understanding in epilepsy. Success in identifying genetic traits in other disorders does not make the automatic case for genome-wide screening in epilepsy, but such is a desired goal. The essential clinical approach of accurately phenotyping, diagnosing and interpreting the dynamic nature of epilepsy

  3. Predictors of trajectories of epilepsy-specific quality of life among children newly diagnosed with epilepsy.

    Science.gov (United States)

    Ramsey, Rachelle R; Loiselle, Kristin; Rausch, Joseph R; Harrison, Jordan; Modi, Avani C

    2016-04-01

    The objective of this study was to identify two-year trajectories of epilepsy-specific health-related quality of life (HRQOL) among children newly diagnosed with epilepsy and to evaluate the predictive value of a comprehensive set of medical, psychosocial, and family factors. Ninety-four children with epilepsy (8.14 ± 2.37 years of age and 63% male) and their caregivers participated in this study. Caregivers completed the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE) and measures of psychological and family functioning at one month postdiagnosis. The QOLCE was also given at eight additional time points during the subsequent two years as a part of a large observational study in children with epilepsy. Adherence data were collected via MEMS TrackCaps, and medical information was collected through chart review. Unique trajectories were identified for the overall QOLCE scale, as well as the subscales. Most trajectory models for the QOLCE subscales contained at least one at-risk trajectory for children, indicating that there is a subgroup of children experiencing poor long-term HRQOL. Health-related quality-of-life trajectories remained predominantly stable during the two-year period following treatment initiation. The number of AEDs, internalizing problems, and externalizing problems emerged as the most consistent predictors across the HRQOL domains. Medical and psychosocial interventions, such as cognitive-behavioral strategies, should target modifiable factors (e.g., internalizing symptoms, externalizing symptoms, number of AEDs trialed) shortly after diagnosis to improve HRQOL for children with epilepsy over the course of their disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Talking about epilepsy: Challenges parents face when communicating with their child about epilepsy and epilepsy-related issues.

    Science.gov (United States)

    O'Toole, Stephanie; Lambert, Veronica; Gallagher, Pamela; Shahwan, Amre; Austin, Joan K

    2016-04-01

    The aim of this qualitative study was to explore the challenges that parents of children with epilepsy experienced when engaging in dialog with their child about epilepsy and epilepsy-related issues. Using a qualitative exploratory approach, interviews were conducted with 34 parents of children with epilepsy (aged 6-16 years), consisting of 27 mothers and 7 fathers. Data were transcribed verbatim and thematically analyzed. Findings revealed five main themes: normalizing epilepsy, the invisibility of epilepsy, information concealment, fear of misinforming the child, and difficulty in discussing particular epilepsy-related issues. Many of the communicative challenges experienced by parents impacted on their ability to engage openly in parent-child dialog about epilepsy in the home. Parents face specific challenges when choosing to communicate with their child about epilepsy, relating to creating a sense of normality, reducing fear of causing their child worry, and having a lack of epilepsy-related knowledge. Healthcare professionals who work closely with families living with epilepsy should remain mindful of the importance of discussing family communication surrounding epilepsy and the challenges parents of children with epilepsy face when talking about epilepsy within the home. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Basic knowledge of epilepsy among medical students.

    Science.gov (United States)

    Tiamkao, Siriporn; Tiamkao, Somsak; Auevitchayapat, Narong; Arunpongpaisal, Suwanna; Chaiyakum, Aporanee; Jitpimolmard, Suthipun; Phuttharak, Warinthorn; Phunikhom, Kutcharin; Saengsuwan M, Jiamjit; Vannaprasaht, Suda

    2007-11-01

    The medical students' knowledge about basic medical neuroscience in the preclinical level may be fragmented and incomplete. Evaluate the knowledge of students prior to a lecture on epilepsy in clinical level. One hundred ten fourth-year medical students' knowledge was accessed by a self-administered questionnaire. The presented results revealed that 91.8% of respondents knew that epilepsy arose from a transient dysfunction in the brain. Generalized tonic-clonic seizures (GTCs) were the most common type (91.5%) they knew and absence seizures were the least common type (33.6%) they knew. All of them knew that eating pork and punishment of gods did not cause epilepsy. However 50% thought that genetics was a cause and 80.3% did not know that stroke and sleep deprivation (92.7%) cause epilepsy. About treatment and prognosis, only 28.2% of respondents thought epilepsy can be cured and patients should take antiepileptic drugs (AEDs) for seizure free 2-5 years (48.2%), life long (33.6%). They knew that the patients should be prohibited from driving (80%), working on machinery (74.5%), and (27.3%) avoid drinking. However, they knew that the patients could marry (100%), get pregnant (98.2%), and lactate (91.9%). Regarding the first aid management, 50.9% of them recommended that placing a piece of wood between the teeth during a seizure and perform chest compressions (20.0%). Means knowledge scores is about 60%, the highest score is the definition of epilepsy (90.2%) and the lowest is type of seizure (43%). The findings indicated that lecturers should review aspects ofpathophysiology and emphasize on type of seizure, cause, consequences, and prognosis including first-aid management.

  6. Epilepsy

    Science.gov (United States)

    ... Epilepsia What Is Epilepsy? Epilepsy comes from a Greek word meaning "to hold or seize," and people ... for epilepsy than somebody whose family has no history of seizures. How Can Doctors Help? If a ...

  7. Opiate receptors in idiopathic generalised epilepsy measured with [11C]diprenorphine and positron emission tomography.

    Science.gov (United States)

    Prevett, M C; Cunningham, V J; Brooks, D J; Fish, D R; Duncan, J S

    1994-09-01

    The neurochemical basis of absence seizures is uncertain. A previous PET study has provided evidence for release of endogenous opioids from cerebral cortex at the time of absence seizures, but it is has not yet been established whether there is an abnormality of opiate receptor numbers interictally. In the present study, the non-specific opiate receptor ligand, [11C]diprenorphine, was used to measure cerebral opiate receptors interictally in patients with childhood and juvenile absence epilepsy. Eight patients and eight normal controls had a single scan after a high specific activity injection of [11C]diprenorphine. The cerebral volume of distribution (Vd) of [11C]diprenorphine relative to plasma was calculated on a pixel-by-pixel basis. There were no significant differences in [11C]diprenorphine Vd between patients and control subjects in either cortex or thalamus, structures thought to be involved in the pathogenesis of absence seizures. The results suggest that there is no overall abnormality of opioid receptors in patients with childhood and juvenile absence epilepsy. Studies with specific ligands may provide information about the different receptor subtypes.

  8. Temporal Lobe Epilepsy Surgery Failures: A Review

    Science.gov (United States)

    Harroud, Adil; Bouthillier, Alain; Weil, Alexander G.; Nguyen, Dang Khoa

    2012-01-01

    Patients with temporal lobe epilepsy (TLE) are refractory to antiepileptic drugs in about 30% of cases. Surgical treatment has been shown to be beneficial for the selected patients but fails to provide a seizure-free outcome in 20–30% of TLE patients. Several reasons have been identified to explain these surgical failures. This paper will address the five most common causes of TLE surgery failure (a) insufficient resection of epileptogenic mesial temporal structures, (b) relapse on the contralateral mesial temporal lobe, (c) lateral temporal neocortical epilepsy, (d) coexistence of mesial temporal sclerosis and a neocortical lesion (dual pathology); and (e) extratemporal lobe epilepsy mimicking TLE or temporal plus epilepsy. Persistence of epileptogenic mesial structures in the posterior temporal region and failure to distinguish mesial and lateral temporal epilepsy are possible causes of seizure persistence after TLE surgery. In cases of dual pathology, failure to identify a subtle mesial temporal sclerosis or regions of cortical microdysgenesis is a likely explanation for some surgical failures. Extratemporal epilepsy syndromes masquerading as or coexistent with TLE result in incomplete resection of the epileptogenic zone and seizure relapse after surgery. In particular, the insula may be an important cause of surgical failure in patients with TLE. PMID:22934162

  9. Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

    Directory of Open Access Journals (Sweden)

    Verhoeven WMA

    2016-05-01

    Full Text Available Willem MA Verhoeven,1,2 Jos IM Egger,1,3,4 Alida C Knegt,5 José Zuydam,6 Tjitske Kleefstra7 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, 2Department of Psychiatry, Erasmus University Medical Center, Rotterdam, 3Donders Institute for Brain, Cognition and Behaviour, 4Behavioural Science Institute, Radboud University, Nijmegen, 5Department of Clinical Genetics, University of Amsterdam Medical Center, Amsterdam, 6Reigersdaal Institute for Intellectual Disabilities, Heerhugowaard, 7Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands Abstract: Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2 gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources, so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1–q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare developmental disorders with genetically proven etiology, a detailed inventory of

  10. Reliability and Validity of the Self-Efficacy for Exercise in Epilepsy and the Outcome Expectations for Exercise in Epilepsy Scales.

    Science.gov (United States)

    Dustin, Irene; Resnick, Barbara; Galik, Elizabeth; Klinedinst, N Jennifer; Michael, Kathleen; Wiggs, Edythe

    2017-04-01

    The purpose of this study was to test the psychometric properties of the revised Self-Efficacy for Exercise With Epilepsy (SEE-E) and Outcome Expectations for Exercise with Epilepsy (OEE-E) when used with people with epilepsy. The SEE-E and OEE-E were given in face-to-face interviews to 26 persons with epilepsy in an epilepsy clinic. There was some evidence of validity based on Rasch analysis INFIT and OUTFIT statistics. There was some evidence of reliability for the SEE-E and OEE-E based on person and item separation reliability indexes. These measures can be used to identify persons with epilepsy who have low self-efficacy and outcome expectations for exercise and guide design of interventions to strengthen these expectations and thereby improve exercise behavior.

  11. Epilepsy

    Science.gov (United States)

    ... eventually become less frequent or disappear altogether. What Causes Epilepsy? This's no clear-cut answer to why people ... epilepsy. Often doctors can't pinpoint the exact cause of a person's epilepsy. But scientists do know that some things can ...

  12. Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

    Science.gov (United States)

    Sorge, Shawn T; Hesdorffer, Dale C; Phelan, Jo C; Winawer, Melodie R; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K; Ottman, Ruth

    2016-10-01

    Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients' psychological responses and coping strategies, but little is known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that among members of families containing multiple individuals with epilepsy, depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause. A self-administered survey was completed by 417 individuals in 104 families averaging 4 individuals with epilepsy per family. Current depression was measured with the Patient Health Questionnaire. Genetic causal attribution was assessed by three questions addressing the following: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual's epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biologic relatives without epilepsy, and 3.9% in 51 individuals married into the families. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biologic relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p = 0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing

  13. Inherent vulnerabilities in monoaminergic pathways predict the emergence of depressive impairments in an animal model of chronic epilepsy.

    Science.gov (United States)

    Medel-Matus, Jesús-Servando; Shin, Don; Sankar, Raman; Mazarati, Andrey

    2017-08-01

    The objective was to determine whether the depression comorbid with epilepsy could be predicted based on inherent premorbid patterns of monoaminergic transmission. In male Wistar rats, despair-like and anhedonia-like behaviors were examined using forced swimming and taste preference tests, respectively. Serotonergic raphe nucleus (RN)-prefrontal cortex (PFC) and dopaminergic ventral tegmental area (VTA)-nucleus accumbens (NAcc) pathways were interrogated by fast scan cyclic voltammetry (FSCV). The assays were performed before and 2 months after pilocarpine status epilepticus. In a subset of naive rats, FSCV, coupled with the intensity-dependent stimulation paradigm, detected specific deviations in each pathway (six rats for RN-PFC and seven rats for VTA-NAcc, with overlap in two, of 19 total subjects) in the absence of behavioral impairments. During epilepsy, animals with preexisting deviations in RN-PFC invariably developed despair, and rats with deviations in VTA-NAcc developed anhedonia. Serotonergic and dopaminergic pathways, respectively, showed signs of explicit deterioration. We suggest that epilepsy triggers decompensations in the already vulnerable depression-relevant neuronal circuits, which culminate in depression. The established connection between the identified specific signatures in monoamine transmission in naive rats and specific symptoms of epilepsy-associated depression may help in understanding causes of comorbidity and in developing its early biomarkers. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  14. Tailored unilobar and multilobar resections for orbitofrontal-plus epilepsy.

    Science.gov (United States)

    Serletis, Demitre; Bulacio, Juan; Alexopoulos, Andreas; Najm, Imad; Bingaman, William; González-Martínez, Jorge

    2014-10-01

    Surgery for frontal lobe epilepsy often has poor results, likely because of incomplete resection of the epileptogenic zone. To present our experience with a series of patients manifesting 2 different anatomo-electro-clinical patterns of refractory orbitofrontal epilepsy, necessitating different surgical approaches for resection in each group. Eleven patients with refractory epilepsy involving the orbitofrontal region were consecutively identified over 3 years in whom stereoelectroencephalography identified the epileptogenic zone. All patients underwent preoperative evaluation, stereoelectroencephalography, and postoperative magnetic resonance imaging. Demographic features, seizure semiology, imaging characteristics, location of the epileptogenic zone, surgical resection site, and pathological diagnosis were analyzed. Surgical outcome was correlated with type of resection. Five patients exhibited orbitofrontal plus frontal epilepsy with the epileptogenic zone consistently residing in the frontal lobe; after surgery, 4 patients were free of disabling seizures (Engel I) and 1 patient improved (Engel II). The remaining 6 patients had multilobar epilepsy with the epileptogenic zone located in the orbitofrontal cortex associated with the temporal polar region (orbitofrontal plus temporal polar epilepsy). After surgery, all 6 patients were free of disabling seizures (Engel I). Pathology confirmed focal cortical dysplasia in all patients. We report no complications or mortalities in this series. Our findings highlight the importance of differentiating between orbitofrontal plus frontal and orbitofrontal plus temporal polar epilepsy in patients afflicted with seizures involving the orbitofrontal cortex. For identified cases of orbitofrontal plus temporal polar epilepsy, a multilobar resection including the temporal pole may lead to improved postoperative outcomes with minimal morbidity or mortality.

  15. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

    Science.gov (United States)

    de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van ‘t Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C

    2016-01-01

    Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Methods Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. Results All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Conclusions Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. PMID:27358180

  16. PET imaging in temporal lobe epilepsy

    International Nuclear Information System (INIS)

    Semah, F.

    2006-01-01

    The research projects on epilepsy addressed two main issues: the pathophysiology of the inter-ictal hypo-metabolism in temporal lobe epilepsy and the role of the basal ganglia in the control of seizure. Our research projects focused primarily on temporal lobe epilepsy: The pathophysiology of inter-ictal hypo-metabolism and its correlation with the epileptogenic network was investigated in patients with mesial temporal lobe epilepsy. Inter-ictal hypo-metabolism is commonly found in mesio-temporal lobe epilepsy (MTLE) but its pathophysiology remains incompletely understood. We hypothesized that metabolic changes reflect the preferential networks involved in ictal discharges. We analyzed the topography of inter-ictal hypo-metabolism according to electro-clinical patterns in 50 patients with unilateral hippocampal sclerosis (HS) and consistent features of MTLE. Based on electro-clinical correlations we identified 4 groups:1) mesial group characterized by mesial seizure onset without evidence of early spread beyond the temporal lobe; 2) anterior mesio-lateral group (AML) with early anterior spread, involving the anterior lateral temporal cortex and insulo-fronto-opercular areas; 3) widespread mesio-lateral group (WML) with widespread spread, involving both anterior and posterior lateral temporal and peri-sylvian areas; 4) bi-temporal group (BT) with early contralateral temporal spread. Results of FDG-PET imaging in each group were compared to control subjects using statistical parametric mapping software (SPM99). MRI data and surgical outcome in each group were compared to metabolic findings. Hypo-metabolism was limited to the hippocampal gyrus, the temporal pole and the insula in the mesial group. Gradual involvement of the lateral temporal cortex, the insula and the peri-sylvian areas was observed in the AML and WML groups. The BT group differed from the others by mild bi-temporal involvement, bilateral insular hypo-metabolism and longer epilepsy duration. MRI

  17. PET imaging in temporal lobe epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Semah, F. [Service Hospitalier Frederic Joliot, DSV-CEA, 91 Orsay (France)

    2006-07-01

    The research projects on epilepsy addressed two main issues: the pathophysiology of the inter-ictal hypo-metabolism in temporal lobe epilepsy and the role of the basal ganglia in the control of seizure. Our research projects focused primarily on temporal lobe epilepsy: The pathophysiology of inter-ictal hypo-metabolism and its correlation with the epileptogenic network was investigated in patients with mesial temporal lobe epilepsy. Inter-ictal hypo-metabolism is commonly found in mesio-temporal lobe epilepsy (MTLE) but its pathophysiology remains incompletely understood. We hypothesized that metabolic changes reflect the preferential networks involved in ictal discharges. We analyzed the topography of inter-ictal hypo-metabolism according to electro-clinical patterns in 50 patients with unilateral hippocampal sclerosis (HS) and consistent features of MTLE. Based on electro-clinical correlations we identified 4 groups:1) mesial group characterized by mesial seizure onset without evidence of early spread beyond the temporal lobe; 2) anterior mesio-lateral group (AML) with early anterior spread, involving the anterior lateral temporal cortex and insulo-fronto-opercular areas; 3) widespread mesio-lateral group (WML) with widespread spread, involving both anterior and posterior lateral temporal and peri-sylvian areas; 4) bi-temporal group (BT) with early contralateral temporal spread. Results of FDG-PET imaging in each group were compared to control subjects using statistical parametric mapping software (SPM99). MRI data and surgical outcome in each group were compared to metabolic findings. Hypo-metabolism was limited to the hippocampal gyrus, the temporal pole and the insula in the mesial group. Gradual involvement of the lateral temporal cortex, the insula and the peri-sylvian areas was observed in the AML and WML groups. The BT group differed from the others by mild bi-temporal involvement, bilateral insular hypo-metabolism and longer epilepsy duration. MRI

  18. Seizure semiology: an important clinical clue to the diagnosis of autoimmune epilepsy.

    Science.gov (United States)

    Lv, Rui-Juan; Ren, Hai-Tao; Guan, Hong-Zhi; Cui, Tao; Shao, Xiao-Qiu

    2018-02-01

    The purpose of this study is to analyze the seizure semiologic characteristics of patients with autoimmune epilepsy (AE) and describe the investigation characteristics of AE using a larger sample size. This observational retrospective case series study was conducted from a tertiary epilepsy center between May 2014 and March 2017. Cases of new-onset seizures were selected based on laboratory evidence of autoimmunity. At the same time, typical mesial temporal lobe epilepsy (MTLE) patients with hippocampal sclerosis (HS) were recruited as the control group from the subjects who underwent presurgical evaluation during the same period. A total of 61 patients with AE were identified. Specific autoimmune antibodies were detected in 39 patients (63.93%), including anti-VGKC in 23 patients (37.70%), anti-NMDA-R in 9 patients (14.75%), anti-GABA B -R in 6 patients (9.84%), and anti-amphiphysin in 1 patient (1.64%). Regarding the seizure semiology, no significant differences were noted between AE patients with autoantibody and patients with suspected AE without antibody. Compared to typical MTLE patients with HS, both AE patients with autoantibody and patients with suspected AE without antibody had the same seizure semiologic characteristics, including more frequent SPS or CPS, shorter seizure duration, rare postictal confusion, and common sleeping SGTC seizures. This study highlights important seizure semiologic characteristics of AE. Patients with autoimmune epilepsy had special seizure semiologic characteristics. For patients with autoimmune epilepsy presenting with new-onset seizures in isolation or with a seizure-predominant neurological disorder, the special seizure semiologic characteristics may remind us to test neuronal nuclear/cytoplasmic antibodies early and initiate immunomodulatory therapies as soon as possible. Furthermore, the absence of neural-specific autoantibodies does not rule out AE.

  19. Sudden cardiac arrest in people with epilepsy in the community

    Science.gov (United States)

    Lamberts, Robert J.; Blom, Marieke T.; Wassenaar, Merel; Bardai, Abdennasser; Leijten, Frans S.; de Haan, Gerrit-Jan; Sander, Josemir W.; Thijs, Roland D.

    2015-01-01

    Objective: To ascertain whether characteristics of ventricular tachycardia/fibrillation (VT/VF) differed between people with epilepsy and those without and which individuals with epilepsy were at highest risk. Methods: We ascertained 18 people with active epilepsy identified in a community-based registry of sudden cardiac arrest (SCA) with ECG-confirmed VT/VF (cases). We compared them with 470 individuals with VT/VF without epilepsy (VT/VF controls) and 54 individuals with epilepsy without VT/VF (epilepsy controls). Data on comorbidity, epilepsy severity, and medication use were collected and entered into (conditional) logistic regression models to identify determinants of VT/VF in epilepsy. Results: In most cases, there was an obvious (10/18) or presumed cardiovascular cause (5/18) in view of preexisting heart disease. In 2 of the 3 remaining events, near–sudden unexpected death in epilepsy (SUDEP) was established after successful resuscitation. Cases had a higher prevalence of congenital/inherited heart disease (17% vs 1%, p = 0.002), and experienced VT/VF at younger age (57 vs 64 years, p = 0.023) than VT/VF controls. VT/VF in cases occurred more frequently at/near home (89% vs 58%, p = 0.009), and was less frequently witnessed (72% vs 89%, p = 0.048) than in VT/VF controls. Cases more frequently had clinically relevant heart disease (50% vs 15%, p = 0.005) and intellectual disability (28% vs 1%, p epilepsy controls. Conclusion: Cardiovascular disease rather than epilepsy characteristics is the main determinant of VT/VF in people with epilepsy in the community. SCA and SUDEP are partially overlapping disease entities. PMID:26092917

  20. The burden of premature mortality of epilepsy in high-income countries: A systematic review from the Mortality Task Force of the International League Against Epilepsy.

    Science.gov (United States)

    Thurman, David J; Logroscino, Giancarlo; Beghi, Ettore; Hauser, W Allen; Hesdorffer, Dale C; Newton, Charles R; Scorza, Fulvio Alexandre; Sander, Josemir W; Tomson, Torbjörn

    2017-01-01

    Since previous reviews of epidemiologic studies of premature mortality among people with epilepsy were completed several years ago, a large body of new evidence about this subject has been published. We aim to update prior reviews of mortality in epilepsy and to reevaluate and quantify the risks, potential risk factors, and causes of these deaths. We systematically searched the Medline and Embase databases to identify published reports describing mortality risks in cohorts and populations of people with epilepsy. We reviewed relevant reports and applied criteria to identify those studies likely to accurately quantify these risks in representative populations. From these we extracted and summarized the reported data. All population-based studies reported an increased risk of premature mortality among people with epilepsy compared to general populations. Standard mortality ratios are especially high among people with epilepsy aged <50 years, among those whose epilepsy is categorized as structural/metabolic, those whose seizures do not fully remit under treatment, and those with convulsive seizures. Among deaths directly attributable to epilepsy or seizures, important immediate causes include sudden unexpected death in epilepsy (SUDEP), status epilepticus, unintentional injuries, and suicide. Epilepsy-associated premature mortality imposes a significant public health burden, and many of the specific causes of death are potentially preventable. These require increased attention from healthcare providers, researchers, and public health professionals. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  1. Epilepsy informatics and an ontology-driven infrastructure for large database research and patient care in epilepsy

    Science.gov (United States)

    Sahoo, Satya S.; Zhang, Guo-Qiang; Lhatoo, Samden D.

    2013-01-01

    Summary The epilepsy community increasingly recognizes the need for a modern classification system that can also be easily integrated with effective informatics tools. The 2010 reports by the United States President's Council of Advisors on Science and Technology (PCAST) identified informatics as a critical resource to improve quality of patient care, drive clinical research, and reduce the cost of health services. An effective informatics infrastructure for epilepsy, which is underpinned by a formal knowledge model or ontology, can leverage an ever increasing amount of multimodal data to improve (1) clinical decision support, (2) access to information for patients and their families, (3) easier data sharing, and (4) accelerate secondary use of clinical data. Modeling the recommendations of the International League Against Epilepsy (ILAE) classification system in the form of an epilepsy domain ontology is essential for consistent use of terminology in a variety of applications, including electronic health records systems and clinical applications. In this review, we discuss the data management issues in epilepsy and explore the benefits of an ontology-driven informatics infrastructure and its role in adoption of a “data-driven” paradigm in epilepsy research. PMID:23647220

  2. Epilepsy and non-organic non-affective psychosis. National epidemiologic study

    DEFF Research Database (Denmark)

    Bredkjaer, S R; Mortensen, P B; Parnas, Josef

    1998-01-01

    BACKGROUND: This study tests the hypothesis that epilepsy increases the risk of developing schizophrenia and other non-affective functional psychoses using a nationwide sample of people with epilepsy. METHOD: A record linkage study between a sample from the National Patient Register, consisting...... of 67,116 people with epilepsy, and the Danish Psychiatric Register identified all people with non-affective psychoses with onset after the first epilepsy diagnosis. The relation between risk of psychiatric disorder in people with epilepsy and the general Danish population was estimated. RESULTS...... of an association between epilepsy and the risk of subsequent non-affective psychosis....

  3. Epilepsy surgery in drug resistant temporal lobe epilepsy associated with neuronal antibodies.

    Science.gov (United States)

    Carreño, Mar; Bien, Christian G; Asadi-Pooya, Ali A; Sperling, Michael; Marusic, Petr; Elisak, Martin; Pimentel, Jose; Wehner, Tim; Mohanraj, Rajiv; Uranga, Juan; Gómez-Ibáñez, Asier; Villanueva, Vicente; Gil, Francisco; Donaire, Antonio; Bargalló, Nuria; Rumià, Jordi; Roldán, Pedro; Setoain, Xavier; Pintor, Luis; Boget, Teresa; Bailles, Eva; Falip, Mercè; Aparicio, Javier; Dalmau, Josep; Graus, Francesc

    2017-01-01

    We assessed the outcome of patients with drug resistant epilepsy and neuronal antibodies who underwent epilepsy surgery. Retrospective study, information collected with a questionnaire sent to epilepsy surgery centers. Thirteen patients identified, with antibodies to GAD (8), Ma2 (2), Hu (1), LGI1 (1) or CASPR2 (1). Mean age at seizure onset: 23 years. Five patients had an encephalitic phase. Three had testicular tumors and five had autoimmune diseases. All had drug resistant temporal lobe epilepsy (median: 20 seizures/month). MRI showed unilateral temporal lobe abnormalities (mainly hippocampal sclerosis) in 9 patients, bilateral abnormalities in 3, and was normal in 1. Surgical procedures included anteromesial temporal lobectomy (10 patients), selective amygdalohippocampectomy (1), temporal pole resection (1) and radiofrequency ablation of mesial structures (1). Perivascular lymphocytic infiltrates were seen in 7/12 patients. One year outcome available in all patients, at 3 years in 9. At last visit 5/13 patients (38.5%) (with Ma2, Hu, LGI1, and 2 GAD antibodies) were in Engel's classes I or II. Epilepsy surgery may be an option for patients with drug resistant seizures associated with neuronal antibodies. Outcome seems to be worse than that expected in other etiologies, even in the presence of unilateral HS. Intracranial EEG may be required in some patients. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. The experience of living with adult-onset epilepsy.

    Science.gov (United States)

    Kılınç, Stephanie; van Wersch, Anna; Campbell, Carol; Guy, Alison

    2017-08-01

    The incidence and prevalence of adults diagnosed with epilepsy is higher compared to those diagnosed in childhood, yet the experience of living with adult-onset epilepsy has rarely been examined. Hence, the current study took a phenomenological approach to examining the experience of living with epilepsy following diagnosis in adulthood. Semi-structured interviews were conducted with 39 people from across the UK, diagnosed with epilepsy between the ages of eighteen and sixty, at two points in time, six months apart. Phenomenological analysis identified three central themes: the unpredictability of seizure occurrence; the ripple effect; and re-evaluating the future. Despite the accepted consensus in the epilepsy literature that living and coping with epilepsy becomes more difficult the older a person is diagnosed, the current findings indicated that this is inadequate. Rather, it is more suitable to consider that those living with adult-onset epilepsy have a specific experience of the condition and particular support needs, given that they once lived their lives as people without epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. International Veterinary Epilepsy Task Force recommendations for a veterinary epilepsy-specific MRI protocol

    DEFF Research Database (Denmark)

    Rusbridge, Clare; Long, Sam; Jovanovik, Jelena

    2015-01-01

    Epilepsy is one of the most common chronic neurological diseases in veterinary practice. Magnetic resonance imaging (MRI) is regarded as an important diagnostic test to reach the diagnosis of idiopathic epilepsy. However, given that the diagnosis requires the exclusion of other differentials...... sequences, imaging planes and/or particular techniques used in performing the MRI scan. As a result, there is a need to standardize MRI examination in veterinary patients with techniques that reliably diagnose subtle lesions, identify post-seizure changes, and which will allow for future identification...... of underlying causes of seizures not yet apparent in the veterinary literature.There is a need for a standardized veterinary epilepsy-specific MRI protocol which will facilitate more detailed examination of areas susceptible to generating and perpetuating seizures, is cost efficient, simple to perform and can...

  6. Epilepsy caused by CDKL5 mutations.

    Science.gov (United States)

    Castrén, Maija; Gaily, Eija; Tengström, Carola; Lähdetie, Jaana; Archer, Hayley; Ala-Mello, Sirpa

    2011-01-01

    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene. © 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  7. Benign childhood epilepsy with occipital paroxysms: neuropsychological findings.

    Science.gov (United States)

    Germanò, Eva; Gagliano, Antonella; Magazù, Angela; Sferro, Caterina; Calarese, Tiziana; Mannarino, Erminia; Calamoneri, Filippo

    2005-05-01

    Benign childhood epilepsy with occipital paroxysms is classified among childhood benign partial epilepsies. The absence of neurological and neuropsychological deficits has long been considered as a prerequisite for a diagnosis of benign childhood partial epilepsy. Much evidence has been reported in literature in the latest years suggesting a neuropsychological impairment in this type of epilepsy, particularly in the type with Rolandic paroxysms. The present work examines the neuropsychological profiles of a sample of subjects affected by the early-onset benign childhood occipital seizures (EBOS) described by Panayotopulos. The patient group included 22 children (14 males and 8 females; mean age 10.1+/-3.3 years) diagnosed as having EBOS. The patients were examined with a set of tests investigating neuropsychological functions: memory, attention, perceptive, motor, linguistic and academic (reading, writing, arithmetic) abilities. The same instruments have been given to a homogeneous control group as regards sex, age, level of education and socio-economic background. None of the subjects affected by EBOS showed intellectual deficit (mean IQ in Wechsler Full Scale 91.7; S.D. 8.9). Results show a widespread cognitive dysfunction in the context of a focal epileptogenic process in EBOS. In particular, children with EBOS show a significant occurrence of specific learning disabilities (SLD) and other subtle neuropsychological deficits. We found selective dysfunctions relating to perceptive-visual attentional ability (pmemory abilities (psupports the hypothesis that epilepsy itself plays a role in the development of neuropsychological impairment. Supported by other studies that have documented subtle neuropsychological deficits in benign partial epilepsy, we stress the importance of reconsidering its supposed "cognitive benignity", particularly in occipital types.

  8. Neurocysticercosis as an infectious acquired epilepsy worldwide.

    Science.gov (United States)

    Reddy, Doodipala Samba; Volkmer, Randy

    2017-11-01

    Aside from brain injury and genetic causes, there is emerging information on brain infection and inflammation as a common cause of epilepsy. Neurocysticercosis (NCC), the most common cause of epilepsy worldwide, is caused by brain cysts from the Taenia solium tapeworm. In this article, we provide a critical analysis of current and emerging information on the relationship between NCC infection and epilepsy occurrence. We searched PubMed and other databases for reports on the prevalence of NCC and incidence of epilepsy in certain regions worldwide. NCC is caused by brain cysts from the T. solium and related tapeworms. Many people with NCC infection may develop epilepsy but the rates are highly variable. MRI imaging shows many changes including localization of cysts as well as the host response to treatment. Epilepsy, in a subset of NCC patients, appears to be due to hippocampal sclerosis. Serologic and brain imaging profiles are likely diagnostic biomarkers of NCC infection and are also used to monitor the course of treatments. Limited access to these tools is a key limitation to identify and treat NCC-related epilepsy in places with high prevalence of this parasite infestation. Overall, NCC is a common infection in many patients with epilepsy worldwide. Additional clinical and animal studies could confirm common pathology of NCC as a postinfectious epilepsy that is curable. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  9. Challenges in the pharmacological management of epilepsy and its causes in the elderly.

    Science.gov (United States)

    Ferlazzo, Edoardo; Sueri, Chiara; Gasparini, Sara; Aguglia, Umberto

    2016-04-01

    Epilepsy represents the third most common neurological disorders in the elderly after cerebrovascular disorders and dementias. The incidence of new-onset epilepsy peaks in this age group. The most peculiar aetiologies of late-onset epilepsy are stroke, dementia, and brain tumours. However, aetiology remains unknown in about half of the patients. Diagnosis of epilepsy may be challenging due to the frequent absence of ocular witnesses and the high prevalence of seizure-mimics (i.e. transient ischemic attacks, syncope, transient global amnesia or vertigo) in the elderly. The diagnostic difficulties are even greater when patients have cognitive impairment or cardiac diseases. The management of late-onset epilepsy deserves special considerations. The elderly can reach seizure control with low antiepileptic drugs (AEDs) doses, and seizure-freedom is possible in the vast majority of patients. Pharmacological management should take into account pharmacokinetics and pharmacodynamics of AEDs and the frequent occurrence of comorbidities and polytherapy in this age group. Evidences from double-blind and open-label studies indicate lamotrigine, levetiracetam and controlled-release carbamazepine as first line treatment in late-onset epilepsy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. A Population-Based Study of Long-term Outcomes of Cryptogenic Focal Epilepsy in Childhood: Cryptogenic Epilepsy is NOT Probably Symptomatic Epilepsy

    Science.gov (United States)

    Wirrell, Elaine C; Grossardt, Brandon R; So, Elson L; Nickels, Katherine C

    2011-01-01

    Purpose To compare long-term outcome in a population-based group of children with cryptogenic vs symptomatic focal epilepsy diagnosed from 1980–2004 and to define the course of epilepsy in the cryptogenic group. Methods We identified all children residing in Olmsted County, MN, 1 month through 17 years with newly diagnosed, non-idiopathic focal epilepsy from 1980–2004. Children with idiopathic partial epilepsy syndromes were excluded. Medical records were reviewed to determine etiology, results of imaging and EEG studies, treatments used, and long-term outcome. Children were defined as having symptomatic epilepsy if they had a known genetic or structural/metabolic etiology, and as cryptogenic if they did not. Key Findings Of 359 children with newly-diagnosed epilepsy, 215 (60%) had non-idiopathic focal epilepsy. Of these, 206 (96%) were followed for more than 12 months. Ninety five children (46%) were classified as symptomatic. Median follow-up from diagnosis was similar in both groups, being 157 months (25%ile, 75%ile 89, 233) in the cryptogenic group vs 134 months (25%ile, 75%ile 78, 220) in the symptomatic group (p=0.26). Of 111 cryptogenic cases, 66% had normal cognition. Long-term outcome was significantly better in those with cryptogenic vs symptomatic etiology (intractable epilepsy at last follow-up, 7% vs 40%, p<0.001; seizure-freedom at last follow-up, 81% vs 55%, p<0.001). Of those who achieved seizure-freedom at final follow-up, 68% of the cryptogenic group versus only 46% of the symptomatic group were off antiepileptic medications (p=0.01). One third of the cryptogenic group had a remarkably benign disorder, with no seizures seen after initiation of medication, or in those who were untreated, after the second afebrile seizure. A further 5% had seizures within the first year but remained seizure-free thereafter. With the exception of perinatal complications, which predicted against seizure remission, no other factors were found to significantly

  11. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder.

    Science.gov (United States)

    Richard, Annie E; Scheffer, Ingrid E; Wilson, Sarah J

    2017-04-01

    Richard, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016. To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls. We contrasted these findings with those of relatives of individuals with ASD (ASD-relatives) compared to controls. Furthermore, we examined the relationship of demographic (age, IQ, sex) and epilepsy-related factors (epilepsy onset age, duration, seizure laterality and origin) to FER and ToM. Thirty-one eligible studies of PWE (including 1449 individuals: 77% with temporal lobe epilepsy), and 22 of ASD-relatives (N=1295) were identified by a systematic database search. Analyses revealed reduced FER and ToM in PWE compared to controls (p<0.001), but only reduced ToM in ASD-relatives (p<0.001). ToM was poorer in PWE than ASD-relatives. Only weak associations were found between FER and ToM and epilepsy-related factors. These findings suggest shared mechanisms between epilepsy and ASD, independent of intellectual disability. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Corpus callosotomy in a patient with startle epilepsy.

    Science.gov (United States)

    Gómez, Nicolás Garófalo; Hamad, Ana Paula; Marinho, Murilo; Tavares, Igor M; Carrete, Henrique; Caboclo, Luís Otávio; Yacubian, Elza Márcia; Centeno, Ricardo

    2013-03-01

    Startle epilepsy is a syndrome of reflex epilepsy in which the seizures are precipitated by a sudden and surprising, usually auditory, stimulus. We describe herein a girl who had been suffering with startle-induced seizures since 2 years of age. She had focal, tonic and tonic-clonic seizures, refractory to antiepileptic treatment. Daily tonic seizures led to very frequent falls and morbidity. Neurologically, she had no deficit. Interictal EEG showed slow waves and epileptiform discharges in central and fronto-central regions. Video-polygraphic recordings of seizures, triggered by stimuli, showed generalised symmetric tonic posturing with ictal EEG, characterised by an abrupt and diffuse electrodecremental pattern of fast activity, followed by alpha-theta rhythm superimposed by epileptic discharges predominantly over the vertex and anterior regions. Magnetic resonance imaging showed no abnormalities. Corpus callosotomy was performed when the patient was 17. Since surgery, the patient (one year follow-up) has remained seizure-free. Corpus callosotomy may be considered in patients with startle epilepsy and tonic seizures, in the absence of focal lesions amenable to surgery. [Published with video sequences].

  13. Incidence and Classification of New-Onset Epilepsy and Epilepsy Syndromes in Children in Olmsted County, Minnesota from 1980–2004: A population-based study

    Science.gov (United States)

    Wirrell, Elaine C.; Grossardt, Brandon R.; Wong-Kisiel, Lily C.-L.; Nickels, Katherine C.

    2012-01-01

    Purpose To determine the incidence and classification of new-onset epilepsy, as well as the distribution of epilepsy syndromes in a population-based group of children, using the newly proposed Report of the ILAE Commission on Classification and Terminology 2005–2009. Methods We identified all children residing in Olmsted County, MN, 1 month through 17 years with newly diagnosed epilepsy from 1980–2004. For each patient, epilepsy was classified into mode of onset, etiology, and syndrome or constellation (if present). Incidence rates were calculated overall and also separately for categories of mode of onset and etiology. Results The adjusted incidence rate of new-onset epilepsy in children was 44.5 cases per 100,000 persons per year. Incidence rates were highest in the first year of life and diminished with age. Mode of onset was focal in 68%, generalized/bilateral in 23%, spasms in 3% and unknown in 5%. Approximately half of children had an unknown etiology for their epilepsy, and of the remainder, 78 (22%) were genetic and 101 (28%) were structural/metabolic. A specific epilepsy syndrome could be defined at initial diagnosis in 99/359 (28%) children, but only 9/359 (3%) had a defined constellation. Conclusion Nearly half of childhood epilepsy is of “unknown” etiology. While a small proportion of this group met criteria for a known epilepsy syndrome, 41% of all childhood epilepsy is of “unknown” cause with no clear syndrome identified. Further work is needed to define more specific etiologies for this group. PMID:21482075

  14. Managing Epilepsy Well: Emerging e-Tools for epilepsy self-management.

    Science.gov (United States)

    Shegog, Ross; Bamps, Yvan A; Patel, Archna; Kakacek, Jody; Escoffery, Cam; Johnson, Erica K; Ilozumba, Ukwuoma O

    2013-10-01

    The Managing Epilepsy Well (MEW) Network was established in 2007 by the Centers for Disease Control and Prevention Epilepsy Program to expand epilepsy self-management research. The network has employed collaborative research strategies to develop, test, and disseminate evidence-based, community-based, and e-Health interventions (e-Tools) for epilepsy self-management for people with epilepsy, caregivers, and health-care providers. Since its inception, MEW Network collaborators have conducted formative studies (n=7) investigating the potential of e-Health to support epilepsy self-management and intervention studies evaluating e-Tools (n=5). The MEW e-Tools (the MEW website, WebEase, UPLIFT, MINDSET, and PEARLS online training) and affiliated e-Tools (Texting 4 Control) are designed to complement self-management practices in each phase of the epilepsy care continuum. These tools exemplify a concerted research agenda, shared methodological principles and models for epilepsy self-management, and a communal knowledge base for implementing e-Health to improve quality of life for people with epilepsy. © 2013.

  15. Clinical neurogenetics: recent advances in the genetics of epilepsy.

    Science.gov (United States)

    Coorg, Rohini; Weisenberg, Judith L Z; Wong, Michael

    2013-11-01

    Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well as non-genetic causes. As more causative genes are identified, genetic testing is becoming increasingly important in the evaluation and management of epilepsy. This article outlines the clinical approach to epilepsy patients, with emphasis on genetic testing. Specific targeted tests are available for numerous individual genetic causes of epilepsy. Broader screening tests, such as chromosome microarray analysis and whole exome sequencing, have also been developed. As a standardized protocol for genetic testing has not been established, individualized diagnostic approaches to epilepsy patients should be used. Copyright © 2013 Elsevier Inc. All rights reserved.

  16. A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2015-01-01

    Full Text Available The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG pattern, the type of seizures, and the variant of the course of epilepsy. This paper describes a case of synaptic RAS GTP-ase-activating protein 1 (SYNGAP1 gene mutation in a 9-year-old female patient with eyelid myoclonic epilepsy, atypical absences, and atypical autism with mental retardation. The patient’s parents visited a physician for epilepsy (myoclonic absences, markedly delayed psycho-speech development, and specific communication problems in the child. The characteristics of autistic behavior were manifested from birth; routine EEG recorded epileptiform activity at the age of 2 years; epileptic seizures appeared at 5 years. Valproic acid and levetiracetam in this patient exerted a good effect on seizures; however, a clinical and encephalographic remission was achieved by a combination of levetiracetam and ethosuximide. The clinical case including the neurological and psychic statuses, logopedic characteristics, the result of psychological testing, and video-EEG monitoring findings are analyzed in detail.The SYNGAP1 gene is located on chromosome 6p21.3. About 50 cases of SYNGAP1 syndrome are now known worldwide. After normal maternal pregnancy and delivery, the patients show delayed psychomotor development with pronounced regression at 1 to 3 years of age. At this age, there are diffuse polyspike discharges on the EEG or an onset of generalized epileptic seizures (atonic, myoclonic, eyelid myoclonic, and absence seizures, commonly photosensitivity and autoinduction, mental development stops, speech regresses, behavioral disorders that are typical of autism develop. Drug-resistant epilepsy is noted in approximately half of the described cases. There is a correlation

  17. [Eponyms and epilepsy (history of Eastern civilizations)].

    Science.gov (United States)

    Janković, S M; Sokić, D V; Lević, Z M; Susić, V; Drulović, J; Stojsavljević, N; Veskov, R; Ivanus, J

    1996-01-01

    The history of eponyms for epilepsy in the lands of the Eastern globe present the portrait of the attitudes of both the laymen and skilled people towards the disease and patient, as well as to the Nature itself. As opposed to the West which during the Middle ages changed its concepts of epilepsy as the organic brain disease for the sublime 'alchemic' position, the people of the East were more prone to consider from the beginning of their civilization till the XIX century that epilepsy is the consequence of the evanescent spiritual and extracorporal forces which by themselves were out of their reach. As compared to the western civilization, the historical resources are, often as a consequence of a linguistic barriers, more scarce-as consequently is the number of eponyms, but are nevertheless picturesque. The medical science from Babylonian period presumed that epileptic manifestations are the consequence of the demonic or ill spiritual actions. There existed an attitude that at the beginning of an epileptic attack the patient was possessed by a demon (the Akkadic, i.e., Babylonian verb "sibtu" denoting epilepsy, had the meaning "to seize" or "to be obsessed"); at the end of the clonic phase the demon departed from the body. Different demons were responsible for different forms of epilepsy such as nocturnal and children epilepsy, absence epilepsy and pure convulsions, simple and complex automatisms, and gelastic epilepsy. Thus, the doctors from the period of Babylon aside from making primordial classification of epilepsies, knew about their clinical picture (prodromal symptoms and aura, Jackson's epilepsy. Todd's paralysis), postictal phenomena and intericatl emotional instability; provocative factors were also known (sleep deprivation, emotions, as well as alcohol, albeit in a negative sense-as a cure for epilepsy). There is no doubt than in the period of Babylon the clinical picture of serial fits and its progress to status epilepticus were clearly recognized and

  18. Examining Perceived Stigma of Children with Newly-Diagnosed Epilepsy and Their Caregivers Over a Two Year Period

    Science.gov (United States)

    Rood, Jennifer E.; Schultz, Janet R.; Rausch, Joseph R.; Modi, Avani C.

    2014-01-01

    The purpose of this study was to examine: 1) the course of perceived epilepsy-related stigma among children newly-diagnosed with epilepsy (n=39) and their caregivers (n=97) over a two year period, 2) the influence of seizure absence/presence on children and caregivers’ perception of epilepsy-related stigma, and 3) congruence of child and caregiver perception of child epilepsy-related stigma. Participants completed a measure of perceived epilepsy-related stigma at three time points, and seizure status was collected at the final time point. Results indicated both caregivers (t1,76 = − 2.57 pstigma from diagnosis to two years post-diagnosis. No significant differences were found in caregiver and child report of perceived stigma for children experiencing seizures as compared to children who have been seizure-free for the past year. Results revealed poor caregiver-child agreement of perceived epilepsy-related stigma at all three time points. These data suggest that while children with epilepsy initially perceive epilepsy-related stigma at diagnosis, their perception of stigma decreases over time. Having a better understanding of the course of epilepsy-related stigma provides clinicians with information regarding critical times to support families with stigma reduction interventions. PMID:25173098

  19. Prioritization of epilepsy associated candidate genes by convergent analysis.

    Science.gov (United States)

    Jia, Peilin; Ewers, Jeffrey M; Zhao, Zhongming

    2011-02-24

    Epilepsy is a severe neurological disorder affecting a large number of individuals, yet the underlying genetic risk factors for epilepsy remain unclear. Recent studies have revealed several recurrent copy number variations (CNVs) that are more likely to be associated with epilepsy. The responsible gene(s) within these regions have yet to be definitively linked to the disorder, and the implications of their interactions are not fully understood. Identification of these genes may contribute to a better pathological understanding of epilepsy, and serve to implicate novel therapeutic targets for further research. In this study, we examined genes within heterozygous deletion regions identified in a recent large-scale study, encompassing a diverse spectrum of epileptic syndromes. By integrating additional protein-protein interaction data, we constructed subnetworks for these CNV-region genes and also those previously studied for epilepsy. We observed 20 genes common to both networks, primarily concentrated within a small molecular network populated by GABA receptor, BDNF/MAPK signaling, and estrogen receptor genes. From among the hundreds of genes in the initial networks, these were designated by convergent evidence for their likely association with epilepsy. Importantly, the identified molecular network was found to contain complex interrelationships, providing further insight into epilepsy's underlying pathology. We further performed pathway enrichment and crosstalk analysis and revealed a functional map which indicates the significant enrichment of closely related neurological, immune, and kinase regulatory pathways. The convergent framework we proposed here provides a unique and powerful approach to screening and identifying promising disease genes out of typically hundreds to thousands of genes in disease-related CNV-regions. Our network and pathway analysis provides important implications for the underlying molecular mechanisms for epilepsy. The strategy can be

  20. Prioritization of epilepsy associated candidate genes by convergent analysis.

    Directory of Open Access Journals (Sweden)

    Peilin Jia

    2011-02-01

    Full Text Available Epilepsy is a severe neurological disorder affecting a large number of individuals, yet the underlying genetic risk factors for epilepsy remain unclear. Recent studies have revealed several recurrent copy number variations (CNVs that are more likely to be associated with epilepsy. The responsible gene(s within these regions have yet to be definitively linked to the disorder, and the implications of their interactions are not fully understood. Identification of these genes may contribute to a better pathological understanding of epilepsy, and serve to implicate novel therapeutic targets for further research.In this study, we examined genes within heterozygous deletion regions identified in a recent large-scale study, encompassing a diverse spectrum of epileptic syndromes. By integrating additional protein-protein interaction data, we constructed subnetworks for these CNV-region genes and also those previously studied for epilepsy. We observed 20 genes common to both networks, primarily concentrated within a small molecular network populated by GABA receptor, BDNF/MAPK signaling, and estrogen receptor genes. From among the hundreds of genes in the initial networks, these were designated by convergent evidence for their likely association with epilepsy. Importantly, the identified molecular network was found to contain complex interrelationships, providing further insight into epilepsy's underlying pathology. We further performed pathway enrichment and crosstalk analysis and revealed a functional map which indicates the significant enrichment of closely related neurological, immune, and kinase regulatory pathways.The convergent framework we proposed here provides a unique and powerful approach to screening and identifying promising disease genes out of typically hundreds to thousands of genes in disease-related CNV-regions. Our network and pathway analysis provides important implications for the underlying molecular mechanisms for epilepsy. The

  1. Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project

    Science.gov (United States)

    Shain, Catherine; Ramgopal, Sriram; Fallil, Zianka; Parulkar, Isha; Alongi, Richard; Knowlton, Robert; Poduri, Annapurna

    2013-01-01

    Purpose Polymicrogyria (PMG) is an epileptogenic malformation of cortical development. We describe the clinical epilepsy and imaging features of a large cohort with PMG-related epilepsy. Methods Participants were recruited through the Epilepsy Phenome/Genome Project, a multi-center collaborative effort to collect detailed phenotypic data on individuals with epilepsy. We reviewed phenotypic data from participants with epilepsy and PMG. Key Findings We identified 87 participants, 43 female and 44 male, with PMG and epilepsy. Median age of seizure onset was 3 years (range <1 month-37 years). Most presented with focal epilepsy (87.4%), some in combination with seizures generalized from onset (23.0%). Focal seizures with dyscognitive features were most common (54.3%). Of those presenting with generalized seizure types, infantile spasms were most prevalent (45.2%). The most common topographic pattern was perisylvian PMG (77.0%), of which the majority was bilateral (56.7%). Generalized PMG presented with an earlier age of seizure onset (median age of 8 months) and an increased prevalence of developmental delay prior to seizure onset (57.1%). Of the focal, unilateral and asymmetric bilateral groups where PMG was more involved in one hemisphere, the majority (71.4%) of participants had seizures that lateralized to the same hemisphere as the PMG or the hemisphere with greater involvement. Significance Participants with PMG had both focal and generalized onset of seizures. Our data confirm the involvement of known topographic patterns of PMG and suggest that more extensive distributions of PMG present with an earlier age of seizure onset and increased prevalence of developmental delay prior to seizure onset. PMID:23750890

  2. Significant variables associated with epilepsy

    International Nuclear Information System (INIS)

    Cheema, F.A.; Qayyum, K.; Ahmad, N.; Makhdoomi, A.; Safdar, A.; Asif, A.; Chaudhry, H.R.

    2003-01-01

    Objective: To study the characteristics of the epileptics and the risk factors contributing to the development of epilepsy. Results: Majority of the subjects were single (77.84%), 1st born among their siblings (25.95%), belonged to low social class (50.63%), and unemployed(25.31%). The major risk factors were family history of illness (23.52%) and positive medical problem around birth (12.66%). The presence of family history of illness, positive medical problem around birth and advanced maternal age at birth were associated with early onset of epilepsy. Vulnerability for the epilepsy also increases among hospital deliveries. Conclusion: Although the present study has identified various risk factors, yet the results need to be further confirmed through case-control studies. (author)

  3. International Veterinary Epilepsy Task Force recommendations for a veterinary epilepsy-specific MRI protocol.

    Science.gov (United States)

    Rusbridge, Clare; Long, Sam; Jovanovik, Jelena; Milne, Marjorie; Berendt, Mette; Bhatti, Sofie F M; De Risio, Luisa; Farqhuar, Robyn G; Fischer, Andrea; Matiasek, Kaspar; Muñana, Karen; Patterson, Edward E; Pakozdy, Akos; Penderis, Jacques; Platt, Simon; Podell, Michael; Potschka, Heidrun; Stein, Veronika M; Tipold, Andrea; Volk, Holger A

    2015-08-28

    Epilepsy is one of the most common chronic neurological diseases in veterinary practice. Magnetic resonance imaging (MRI) is regarded as an important diagnostic test to reach the diagnosis of idiopathic epilepsy. However, given that the diagnosis requires the exclusion of other differentials for seizures, the parameters for MRI examination should allow the detection of subtle lesions which may not be obvious with existing techniques. In addition, there are several differentials for idiopathic epilepsy in humans, for example some focal cortical dysplasias, which may only apparent with special sequences, imaging planes and/or particular techniques used in performing the MRI scan. As a result, there is a need to standardize MRI examination in veterinary patients with techniques that reliably diagnose subtle lesions, identify post-seizure changes, and which will allow for future identification of underlying causes of seizures not yet apparent in the veterinary literature.There is a need for a standardized veterinary epilepsy-specific MRI protocol which will facilitate more detailed examination of areas susceptible to generating and perpetuating seizures, is cost efficient, simple to perform and can be adapted for both low and high field scanners. Standardisation of imaging will improve clinical communication and uniformity of case definition between research studies. A 6-7 sequence epilepsy-specific MRI protocol for veterinary patients is proposed and further advanced MR and functional imaging is reviewed.

  4. Screening for suicidal ideation in children with epilepsy.

    Science.gov (United States)

    Jones, Jana E; Siddarth, Prabha; Gurbani, Suresh; Shields, W Donald; Caplan, Rochelle

    2013-12-01

    Given the FDA's warning regarding the potential connection between suicidal behavior and antiepileptic drugs, this study examined methods by which to detect suicidal ideation in children with epilepsy. It compared the sensitivity, specificity, and area under the curve for identifying children with suicidal behavior using the Child Behavior Checklist (CBCL) and a structured psychiatric interview. Parent-completed CBCLs provided behavioral problem scores on 177 children with epilepsy, aged 5-16years. Psychiatric diagnoses were made based on separate child and parent structured psychiatric interviews about the child. The children answered questions on suicidal behaviors during the interview. A clinically elevated score in the CBCL Total Problems scale and having more than one psychiatric diagnosis, irrespective of the type of diagnosis, were significant predictors and correctly classified children with suicidal ideation in 79% of the cases based on the CBCL and 80% of the cases with more than one psychiatric diagnosis. These findings indicate that elevated CBCL Total Problems scores, a commonly used instrument, can screen and identify risk for suicidal behavior in children with epilepsy. Additionally, irrespective of diagnosis, if a child with epilepsy has more than one psychiatric diagnosis, further assessment of suicidal behavior is warranted. Importantly, the results underscore the utility of having parents complete a questionnaire in the waiting room in order to identify children with epilepsy at risk for suicidal behavior. © 2013.

  5. Epidemiology of active epilepsy in a suburban community in ...

    African Journals Online (AJOL)

    door survey using a modification of the World Health Organization Neuroscience research protocol. In the second phase, cases of active epilepsy were identified and the clinical forms of epilepsy diagnosed based on the International League ...

  6. The current state of epilepsy guidelines: A systematic review.

    Science.gov (United States)

    Sauro, Khara M; Wiebe, Samuel; Dunkley, Colin; Janszky, Jozsef; Kumlien, Eva; Moshé, Solomon; Nakasato, Nobukazu; Pedley, Timothy A; Perucca, Emilio; Senties, Horacio; Thomas, Sanjeev V; Wang, Yuping; Wilmshurst, Jo; Jetté, Nathalie

    2016-01-01

    The International League Against Epilepsy (ILAE) Epilepsy Guidelines Task Force, composed of 14 international members, was established in 2011 to identify, using systematic review methodology, international epilepsy clinical care guidelines, assess their quality, and determine gaps in areas of need of development. A systematic review of the literature (1985-2014) was performed in six electronic databases (e.g. Medline, Embase) using a broad search strategy without initial limits to language or study design. Six gray literature databases (e.g., American Academy of Neurology [AAN], ILAE) were also searched to minimize publication bias. Two independent reviewers screened abstracts, reviewed full text articles, and performed data abstraction. Descriptive statistics and a meta-analysis were generated. The search identified 10,926 abstracts. Of the 410 articles selected for full text review, 63 met our eligibility criteria for a guideline. Of those included, 54 were in English and 9 were in other languages (French, Spanish, and Italian). Of all guidelines, 29% did not specify the target age groups, 27% were focused on adults, 22% included only children, and 6% specifically addressed issues related to women with epilepsy. Guidelines included in the review were most often aimed at guiding clinical practice for status epilepticus (n = 7), first seizure (n = 6), drug-resistant epilepsy (n = 5), and febrile seizures (n = 4), among others. Most of the guidelines were therapeutic (n = 35) or diagnostic (n = 16) in nature. The quality of the guidelines using a 1-7 point scale (7 = highest) varied and was moderate overall (mean = 4.99 ± 1.05 [SD]). We identified substantial gaps in topics (e.g., epilepsy in the elderly) and there was considerable heterogeneity in methodologic quality. The findings should offer a valuable resource for health professionals caring for people with epilepsy, since they will help guide the prioritization, development, and dissemination of future

  7. Executive function and health-related quality of life in pediatric epilepsy.

    Science.gov (United States)

    Schraegle, William A; Titus, Jeffrey B

    2016-09-01

    Children and adolescents with epilepsy often show higher rates of executive functioning deficits and are at an increased risk of diminished health-related quality of life (HRQOL). The purpose of the current study was to determine the extent to which executive dysfunction predicts HRQOL in youth with epilepsy. Data included parental ratings on the Behavior Rating Inventory of Executive Function (BRIEF) and the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire for 130 children and adolescents with epilepsy (mean age=11years, 6months; SD=3years, 6months). Our results identified executive dysfunction in nearly half of the sample (49%). Moderate-to-large correlations were identified between the BRIEF and the QOLCE subscales of well-being, cognition, and behavior. The working memory subscale on the BRIEF emerged as the sole significant predictor of HRQOL. These results underscore the significant role of executive function in pediatric epilepsy. Proactive screening for executive dysfunction to identify those at risk of poor HRQOL is merited, and these results bring to question the potential role of behavioral interventions to improve HRQOL in pediatric epilepsy by specifically treating and/or accommodating for executive deficits. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Electroencephalography in Mesial Temporal Lobe Epilepsy: A Review

    Science.gov (United States)

    Javidan, Manouchehr

    2012-01-01

    Electroencephalography (EEG) has an important role in the diagnosis and classification of epilepsy. It can provide information for predicting the response to antiseizure drugs and to identify the surgically remediable epilepsies. In temporal lobe epilepsy (TLE) seizures could originate in the medial or lateral neocortical temporal region, and many of these patients are refractory to medical treatment. However, majority of patients have had excellent results after surgery and this often relies on the EEG and magnetic resonance imaging (MRI) data in presurgical evaluation. If the scalp EEG data is insufficient or discordant, invasive EEG recording with placement of intracranial electrodes could identify the seizure focus prior to surgery. This paper highlights the general information regarding the use of EEG in epilepsy, EEG patterns resembling epileptiform discharges, and the interictal, ictal and postictal findings in mesial temporal lobe epilepsy using scalp and intracranial recordings prior to surgery. The utility of the automated seizure detection and computerized mathematical models for increasing yield of non-invasive localization is discussed. This paper also describes the sensitivity, specificity, and predictive value of EEG for seizure recurrence after withdrawal of medications following seizure freedom with medical and surgical therapy. PMID:22957235

  9. Epilepsy beyond seizures: a review of the impact of epilepsy and its comorbidities on health-related quality of life in dogs.

    Science.gov (United States)

    Packer, Rowena M A; Volk, Holger A

    2015-09-26

    Epilepsy is one of the most common chronic neurological conditions in the dog, estimated to affect 0.6 to 0.75 per cent of dogs. Owners of dogs with epilepsy have previously indicated that their dog's quality of life (QoL) is of greatest importance to them above seizure frequency; however, much of the research into canine epilepsy to date has focussed on seizure frequency, and how to reduce it via antiepileptic drug treatment. In people, the impact of epilepsy upon QoL has been widely studied, exploring not only its impact on physical health, but also the psychological health and cognitive capabilities of affected individuals. This paper reviews the existing literature on canine epilepsy, identifies potential threats to QoL, and draws parallels from human epilepsy research. We suggest that canine epilepsy poses threats to both quality and quantity of life, with treatment interventions posing a fine balance of potential benefits and harms to the patient. At present, little is known about the neurobehavioural, emotional and cognitive effects of epilepsy upon affected dogs. Further studies are needed to establish the extent to which unknown QoL-inhibiting comorbidities exist in the dog, in order to avoid their undertreatment, and to objectively quantify the effects of epilepsy on canine QoL. British Veterinary Association.

  10. The origin of the concept of partial epilepsy.

    Science.gov (United States)

    Eadie

    1999-03-01

    The International League Against Epilepsy has devised classifications which subdivide both epileptic seizures and the epilepsies and epileptic syndromes into two main types: generalized and partial. Epileptogenesis in the partial variety is believed to originate in a localized part of the cerebral cortex and results in clinical manifestations which appear to commence in only a restricted part of the sufferer's body. Use of the term 'partial' in relation to these entities has often been said to date back to James Cowles Prichard (1786-1849) who was the author of the second major work on epilepsy to be written in the UK. While Prichard certainly described 'partial epilepsy', he stated that he intended the words to refer to the fact that the disorder he described under that designation was only partly, and not fully, epileptic in nature. He did not refer to the fact that it affected only part of the body as his basis for using the term. In the absence of knowledge of localization of function in the cerebral cortex at Prichard's time of writing, he had no basis for deducing that the underlying epileptic process arose in only part of the brain. However, there is an earlier mention of the use of the word 'partial' in relation to epilepsy. This is to be found in the writings of the great Scottish physician William Cullen (1710-1790), and there is reason to believe that Prichard should have been aware of this. Cullen used 'partial' with an intention similar to the modern one, employing the word to refer to seizures which affected only part of the body. Credit for the origin of the idea of a 'partial' epilepsy should belong to Cullen; not only did he have priority over Prichard but his concept was closer to the modern one than was Prichard's. Copyright 1999 Harcourt Publishers Ltd.

  11. Diagnosis of Epilepsy and Related Episodic Disorders.

    Science.gov (United States)

    St Louis, Erik K; Cascino, Gregory D

    2016-02-01

    This review identifies the diverse and variable clinical presentations associated with epilepsy that may create challenges in diagnosis and treatment. Epilepsy has recently been redefined as a disease characterized by one or more seizures with a relatively high recurrence risk (ie, 60% or greater likelihood). The implication of this definition for therapy is that antiepileptic drug therapy may be initiated following a first seizure in certain situations.EEG remains the most commonly used study in the evaluation of people with epilepsy. Routine EEG may assist in diagnosis, classification of seizure type(s), identification of treatment, and monitoring the efficacy of therapy. Video-EEG monitoring permits seizure classification, assessment of psychogenic nonepileptic seizures, and evaluation of candidacy for epilepsy surgery. MRI is pivotal in elucidating the etiology of the seizure disorder and in suggesting the localization of seizure onset. This article reviews the new International League Against Epilepsy practical clinical definition for epilepsy and the differential diagnosis of other physiologic paroxysmal spells, including syncope, parasomnias, transient ischemic attacks, and migraine, as well as psychogenic nonepileptic seizures. The initial investigational approaches to new-onset epilepsy are considered, including neuroimaging and neurophysiologic investigations with interictal and ictal video-EEG. Neurologists should maintain a high index of suspicion for epilepsy when children or adults present with a single paroxysmal spell or recurrent episodic events.

  12. Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

    Science.gov (United States)

    Andrade, Danielle M; Bassett, Anne S; Bercovici, Eduard; Borlot, Felippe; Bui, Esther; Camfield, Peter; Clozza, Guida Quaglia; Cohen, Eyal; Gofine, Timothy; Graves, Lisa; Greenaway, Jon; Guttman, Beverly; Guttman-Slater, Maya; Hassan, Ayman; Henze, Megan; Kaufman, Miriam; Lawless, Bernard; Lee, Hannah; Lindzon, Lezlee; Lomax, Lysa Boissé; McAndrews, Mary Pat; Menna-Dack, Dolly; Minassian, Berge A; Mulligan, Janice; Nabbout, Rima; Nejm, Tracy; Secco, Mary; Sellers, Laurene; Shapiro, Michelle; Slegr, Marie; Smith, Rosie; Szatmari, Peter; Tao, Leeping; Vogt, Anastasia; Whiting, Sharon; Carter Snead, O

    2017-09-01

    The transition from a pediatric to adult health care system is challenging for many youths with epilepsy and their families. Recently, the Ministry of Health and Long-Term Care of the Province of Ontario, Canada, created a transition working group (TWG) to develop recommendations for the transition process for patients with epilepsy in the Province of Ontario. Herein we present an executive summary of this work. The TWG was composed of a multidisciplinary group of pediatric and adult epileptologists, psychiatrists, and family doctors from academia and from the community; neurologists from the community; nurses and social workers from pediatric and adult epilepsy programs; adolescent medicine physician specialists; a team of physicians, nurses, and social workers dedicated to patients with complex care needs; a lawyer; an occupational therapist; representatives from community epilepsy agencies; patients with epilepsy; parents of patients with epilepsy and severe intellectual disability; and project managers. Three main areas were addressed: (1) Diagnosis and Management of Seizures; 2) Mental Health and Psychosocial Needs; and 3) Financial, Community, and Legal Supports. Although there are no systematic studies on the outcomes of transition programs, the impressions of the TWG are as follows. Teenagers at risk of poor transition should be identified early. The care coordination between pediatric and adult neurologists and other specialists should begin before the actual transfer. The transition period is the ideal time to rethink the diagnosis and repeat diagnostic testing where indicated (particularly genetic testing, which now can uncover more etiologies than when patients were initially evaluated many years ago). Some screening tests should be repeated after the move to the adult system. The seven steps proposed herein may facilitate transition, thereby promoting uninterrupted and adequate care for youth with epilepsy leaving the pediatric system. Wiley

  13. Toxoplasmosis and epilepsy--systematic review and meta analysis.

    Science.gov (United States)

    Ngoungou, Edgard B; Bhalla, Devender; Nzoghe, Amandine; Dardé, Marie-Laure; Preux, Pierre-Marie

    2015-02-01

    Toxoplasmosis is an important, widespread, parasitic infection caused by Toxoplasma gondii. The chronic infection in immunocompetent patients, usually considered as asymptomatic, is now suspected to be a risk factor for various neurological disorders, including epilepsy. We aimed to conduct a systematic review and meta-analysis of the available literature to estimate the risk of epilepsy due to toxoplasmosis. A systematic literature search was conducted of several databases and journals to identify studies published in English or French, without date restriction, which looked at toxoplasmosis (as exposure) and epilepsy (as disease) and met certain other inclusion criteria. The search was based on keywords and suitable combinations in English and French. Fixed and random effects models were used to determine odds ratios, and statistical significance was set at 5.0%. Six studies were identified, with an estimated total of 2888 subjects, of whom 1280 had epilepsy (477 positive for toxoplasmosis) and 1608 did not (503 positive for toxoplasmosis). The common odds ratio (calculated) by random effects model was 2.25 (95% CI 1.27-3.9), p = 0.005. Despite the limited number of studies, and a lack of high-quality data, toxoplasmosis should continue to be regarded as an epilepsy risk factor. More and better studies are needed to determine the real impact of this parasite on the occurrence of epilepsy.

  14. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    DEFF Research Database (Denmark)

    Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M

    2016-01-01

    nuclear receptor (RORβ), in four affected family members. In addition, two de novo variants (c.218T>C/p.(Leu73Pro); c.1249_1251delACG/p.(Thr417del)) were identified in sporadic patients by trio-based exome sequencing. We also found two de novo deletions in patients with behavioral and cognitive impairment...... in various types of epilepsies in the past few years. In the present study, we performed whole-exome sequencing in a family with GGE consistent with the diagnosis of eyelid myoclonia with absences. We found a nonsense variant (c.196C>T/p.(Arg66*)) in RORB, which encodes the beta retinoid-related orphan...

  15. Marital status of people with epilepsy in Korea.

    Science.gov (United States)

    Kim, Myeong-Kyu; Kwon, Oh-Young; Cho, Yong-Won; Kim, Yosik; Kim, Sung-Eun; Kim, Hoo-Won; Lee, Sang Kun; Jung, Ki-Young; Lee, Il Keun

    2010-11-01

    A multicentre face-to-face interview was conducted to identify factors contributing to the marital status of people with epilepsy (PWE) in Korea. The marriage rate of PWEs was only 80% and the divorce rate was more than double that in the general population. Among the single subjects, 34% replied that they were unmarried because of epilepsy, and 76% of divorced PWEs replied that epilepsy was the cause of the divorce. The factors affecting the single and divorced status in PWEs included gender, an earlier onset of seizure and seizure onset before marriage. Not informing the spouse of the disease before marriage for fear of discrimination was not related to disadvantage in marriage negotiation or to divorce. Social stigmatization of epilepsy continues and impacts on the marital status of PWEs in Korea. However, there is no correlation between the perceived and the enacted stigmas of epilepsy. Copyright © 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  16. Persons with Epilepsy: Between Social Inclusion and Marginalisation.

    Science.gov (United States)

    Mlinar, Simona; Petek, Davorina; Cotič, Živa; Mencin Čeplak, Metka; Zaletel, Marjan

    2016-01-01

    Epilepsy is a chronic neurological disorder that can lead to complex psychosocial consequences. Epilepsy can change the social status of persons with epilepsy (PWE) and has an effect on their social inclusion as well as their perception of social inclusion. This study aims to explore subjective experiences with social inclusion of PWE in Slovenia. This study takes a qualitative approach. Eleven semistructured interviews were conducted with eleven participants. Interviews were analysed using thematic analysis. Epilepsy has physical, emotional, and social consequences. Physical consequences of epilepsy are mainly tiredness and exhaustion following an epileptic episode, frequently accompanied by headaches. Emotional consequences are different forms of fear. The main social consequence identified is a negative effect on PWE's social network, which leads to (self-)isolation and social distrust. PWE experience of social inclusion depends on various psychosocial factors and differs from person to person. The consequences of epilepsy are shown in PWE social contacts and their sense of social inclusion and autonomy.

  17. Imaging in epilepsy

    International Nuclear Information System (INIS)

    Gupta, Arun Kumar; Sharma, Raju; Sarma, Dipanka

    2000-01-01

    Epilepsy is a common problem in the paediatric age group. Imaging plays a vital role in identifying the seizure focus. Cross-sectional imaging modalities like CT and MRI have had a major impact on the management of seizure disorders. MRI, because of its high contrast resolution and multiplanar capability is the ideal imaging modality but its use is restricted due to high cost. Computed tomography is cheaper and is the first, and often, the only modality used, especially in the under privileged areas of the world. In the tropical countries inflammatory granuloma are a common cause of epilepsy and CT is adequate to detect these lesions. Other causes include congenital abnormalities, neoplastic and vascular causes. (author)

  18. The beliefs among patients with epilepsy in Saudi Arabia about the causes and treatment of epilepsy and other aspects.

    Science.gov (United States)

    Alkhamees, Hadeel A; Selai, Caroline E; Shorvon, Simon D

    2015-12-01

    The current survey sought to identify the religious and cultural beliefs about the causes and treatment of epilepsy in people with epilepsy from Saudi Arabia and a number of other aspects relating to the possibility of cure, coping with the condition, and public awareness. Study instruments were developed on the basis of the literature, a focus group of people with epilepsy, and feedback from people in the field with local knowledge. These were then piloted. A survey was then carried out among a total of 110 adults with epilepsy. Participants were asked to complete questionnaires inquiring into their beliefs about the causes and range of treatments used for epilepsy. Each participant was allowed to choose more than one cause and more than one treatment method. The questionnaires were administered face to face by a clinical psychologist (HAA) to improve the quality of the responses. We found that most adults with epilepsy in Saudi Arabia believe that epilepsy is a condition with multifactorial causation and for which more than one treatment method should be applied. A test from God was the most commonly ascribed cause (83% as well as 40% who believed that some cases of the illness were a punishment from God). The belief in the concept of God's will helped many in the cohort to accept their illness as part of their destiny. Ninety-six percent of the patients believed that there were also medical causes (such as an illness, brain insult, inflammation, heredity, contagion), and a similar proportion believed that there were also religious causes. Smaller proportions believed epilepsy could be due to cultural (78%) or psychosocial causes (64%). Thirty-four percent of people believed that there could be sometimes no cause, but only 2% thought that epilepsy never had any identifiable cause. Most patients did not believe that one treatment alone would help. Ninety-three percent of patients believed in medical treatment, 93% in religious treatment, and 64% in traditional

  19. Hereditary epilepsy syndromes

    NARCIS (Netherlands)

    Callenbach, PMC; Brouwer, OF

    This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described. (C)

  20. The dynamics of absence behaviour: Interrelations between absence from class and absence in class

    DEFF Research Database (Denmark)

    Jonasson, Charlotte

    2011-01-01

    Abstract: Background: Studies of absence in educational settings have primarily been concerned with the causes for and results of student absence. However, recent research has argued that distinguishing between different forms of absence could be important. In consequence, studying the way in whi...... in the social practice of students, teachers and school managers. Evaluations of both absence from class and absence in class are important for understanding how absence behaviour can be identified and prevented....... performance. It is helpful to describe these findings using theoretical frameworks from sociology and psychology: specifically, spill-over theory and symbolic capital theory. Conclusions: This study has demonstrated how different forms of absence become dynamically interrelated through ongoing negotiations...

  1. Reflex epilepsy: triggers and management strategies

    Directory of Open Access Journals (Sweden)

    Okudan ZV

    2018-01-01

    Full Text Available Zeynep Vildan Okudan,1 Çiğdem Özkara2 1Department of Neurology, Bakirkoy Dr Sadi Konuk Education and Research Hospital, 2Department of Neurology and Clinical Neurophysiology, Cerrahpasa Faculty of Medicine, University of Istanbul, Istanbul, Turkey Abstract: Reflex epilepsies (REs are identified as epileptic seizures that are consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient’s own activity. RE may have different subtypes depending on the stimulus characteristic. There are significant clinical and electrophysiologic differences between different RE types. Visual stimuli-sensitive or photosensitive epilepsies constitute a large proportion of the RE and are mainly related to genetic causes. Reflex epilepsies may present with focal or generalized seizures due to specific triggers, and sometimes seizures may occur spontaneously. The stimuli can be external (light flashes, hot water, internal (emotion, thinking, or both and should be distinguished from triggering precipitants, which most epileptic patients could report such as emotional stress, sleep deprivation, alcohol, and menstrual cycle. Different genetic and acquired factors may play a role in etiology of RE. This review will provide a current overview of the triggering factors and management of reflex seizures. Keywords: seizure, reflex epilepsy, photosensitivity, hot water, reading, thinking

  2. Myoclonic epilepsy with ragged-red fibers without increased lactate levels.

    Science.gov (United States)

    Kimura, Shigemi; Ozasa, Shiro; Nakamura, Kyoko; Nomura, Keiko; Kosuge, Hirofumi

    2009-07-01

    Myoclonic epilepsy associated with ragged-red fibers is one of the mitochondrial encephalomyopathies. Pathogenic mitochondrial DNA mutations have been identified in the mitochondrial transfer RNA (tRNA)(Lys) at positions 8344 and 8356. Characteristics of myoclonic epilepsy associated with ragged-red fibers include myoclonic epilepsy, generalized epilepsy, hearing loss, exercise intolerance, lactic acidosis, and ragged-red fibers. The elevated lactate level is one of the most important symptoms needed to make a diagnosis of mitochondrial encephalomyopathy. In the present case, however, myoclonic epilepsy was associated with ragged-red fibers but without increased lactate levels. Therefore, myoclonic epilepsy associated with ragged-red fibers should be suspected in a patient who has myoclonic epilepsy that is difficult to control with antiepileptic medications and who has other symptoms of mitochondrial disease, such as mental retardation, even if the patient's lactate level is normal.

  3. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

    Science.gov (United States)

    de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C

    2016-12-01

    Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  4. Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India

    Directory of Open Access Journals (Sweden)

    Sanjib Sinha

    2013-01-01

    Full Text Available Purpose: We studied the phenotype and electroencephalographic (EEG features, and therapeutic aspects of idiopathic generalized epilepsies (IGEs in South Indian population. Patients and Methods: This prospective cross-sectional hospital-based study was carried out on non-consecutive 287 patients (age 22.2 ± 7.7 years; M:F = 139:148 with IGE syndrome. Their clinical and EEG observations were analyzed. Results: Majority of the patients had onset of seizures <20 years of age (n = 178; 62%. Thirty one patients (10.8% had family history of epilepsy. Nearly half of them (49.9% had <5 years of duration of seizures. The type of IGEs included Juvenile myoclonic epilepsy (JME: 115 (40.1%; IGE with generalized tonic-clonic seizures (GTCS only: 102 (39.02%; childhood absence epilepsy (CAE: 35 (12.2%; GTCS on awakening: 15 (5.2%; Juvenile absence epilepsy (JAE: 11 (3.8%; and unclassified seizures: 9 (3.1%. The triggering factors noted in 45% were sleep deprivation (20%, non-compliance and stress in 5% each. The EEG (n = 280 showed epileptiform discharges in about 50% of patients. Epileptiform discharges during activation was observed in 40/249 patients (16.1%: Hyperventilation in 32 (12.8% and photic stimulation in 19 (7.6%. The seizures were well controlled with anti-epileptic drugs (AEDs in 232 (80.8% patients and among them, 225 (78.4% patients were on monotherapy. Valproate (n = 131 was the most frequently prescribed as monotherapy. Conclusions: This is one of the largest cohort of patients with IGE. This study reiterates the importance of segregating IGE syndrome and such analysis will aid to the current understanding and management.

  5. Epilepsy

    Science.gov (United States)

    ... problems. Other Organizations Epilepsy Foundation National Institute of Neurological Disorders and Stroke Questions Questions to Ask Your Doctor What causes epilepsy? What are symptoms other than seizures? What should ...

  6. Epilepsy: Indian perspective

    Directory of Open Access Journals (Sweden)

    Nandanavana Subbareddy Santhosh

    2014-01-01

    Full Text Available There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India.

  7. Examining perceived stigma of children with newly-diagnosed epilepsy and their caregivers over a two-year period.

    Science.gov (United States)

    Rood, Jennifer E; Schultz, Janet R; Rausch, Joseph R; Modi, Avani C

    2014-10-01

    The purpose of this study was to examine the following: 1) the course of perceived epilepsy-related stigma among children newly diagnosed with epilepsy (n=39) and their caregivers (n=97) over a two-year period, 2) the influence of seizure absence/presence on children and caregivers' perception of epilepsy-related stigma, and 3) the congruence of child and caregiver perception of child epilepsy-related stigma. Participants completed a measure of perceived epilepsy-related stigma at three time points, and seizure status was collected at the final time point. Results indicated that both caregivers (t(1,76)=-2.57, pstigma from diagnosis to two years postdiagnosis. No significant differences were found in caregiver and child reports of perceived stigma for children experiencing seizures compared with children who have been seizure-free for the past year. Results revealed poor caregiver-child agreement of perceived epilepsy-related stigma at all three time points. These data suggest that while children with epilepsy initially perceive epilepsy-related stigma at diagnosis, their perception of stigma decreases over time. Having a better understanding of the course of epilepsy-related stigma provides clinicians with information regarding critical times to support families with stigma reduction interventions. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Effects of Epilepsy on Language Functions: Scoping Review and Data Mining Findings.

    Science.gov (United States)

    Dutta, Manaswita; Murray, Laura; Miller, Wendy; Groves, Doyle

    2018-03-01

    This study involved a scoping review to identify possible gaps in the empirical description of language functioning in epilepsy in adults. With access to social network data, data mining was used to determine if individuals with epilepsy are expressing language-related concerns. For the scoping review, scientific databases were explored to identify pertinent articles. Findings regarding the nature of epilepsy etiologies, patient characteristics, tested language modalities, and language measures were compiled. Data mining focused on social network databases to obtain a set of relevant language-related posts. The search yielded 66 articles. Epilepsy etiologies except temporal lobe epilepsy and older adults were underrepresented. Most studies utilized aphasia tests and primarily assessed single-word productions; few studies included healthy control groups. Data mining revealed several posts regarding epilepsy-related language problems, including word retrieval, reading, writing, verbal memory difficulties, and negative effects of epilepsy treatment on language. Our findings underscore the need for future specification of the integrity of language in epilepsy, particularly with respect to discourse and high-level language abilities. Increased awareness of epilepsy-related language issues and understanding the patients' perspectives about their language concerns will allow researchers and speech-language pathologists to utilize appropriate assessments and improve quality of care.

  9. The concept of symptomatic epilepsy and the complexities of assigning cause in epilepsy.

    Science.gov (United States)

    Shorvon, Simon

    2014-03-01

    The concept of symptomatic epilepsy and the difficulties in assigning cause in epilepsy are described. A historical review is given, emphasizing aspects of the history which are relevant today. The historical review is divided into three approximately semicentenial periods (1860-1910, 1910-1960, 1960-present). A definition of symptomatic epilepsy and this is followed by listing of causes of symptomatic epilepsy. The fact that not all the causes of idiopathic epilepsy are genetic is discussed. A category of provoked epilepsy is proposed. The complexities in assigning cause include the following: the multifactorial nature of epilepsy, the distinction between remote and proximate causes, the role of nongenetic factors in idiopathic epilepsy, the role of investigation in determining the range of causes, the fact that not all symptomatic epilepsy is acquired, the nosological position of provoked epilepsy and the view of epilepsy as a process, and the differentiation of new-onset and established epilepsy. The newly proposed ILAE classification of epilepsy and its changes in terminologies and the difficulties in the concept of acute symptomatic epilepsy are discussed, including the inconsistencies and gray areas and the distinction between idiopathic, symptomatic, and provoked epilepsies. Points to be considered in future work are listed. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Quantifying interictal metabolic activity in human temporal lobe epilepsy

    International Nuclear Information System (INIS)

    Henry, T.R.; Mazziotta, J.C.; Engel, J. Jr.; Christenson, P.D.; Zhang, J.X.; Phelps, M.E.; Kuhl, D.E.

    1990-01-01

    The majority of patients with complex partial seizures of unilateral temporal lobe origin have interictal temporal hypometabolism on [18F]fluorodeoxyglucose positron emission tomography (FDG PET) studies. Often, this hypometabolism extends to ipsilateral extratemporal sites. The use of accurately quantified metabolic data has been limited by the absence of an equally reliable method of anatomical analysis of PET images. We developed a standardized method for visual placement of anatomically configured regions of interest on FDG PET studies, which is particularly adapted to the widespread, asymmetric, and often severe interictal metabolic alterations of temporal lobe epilepsy. This method was applied by a single investigator, who was blind to the identity of subjects, to 10 normal control and 25 interictal temporal lobe epilepsy studies. All subjects had normal brain anatomical volumes on structural neuroimaging studies. The results demonstrate ipsilateral thalamic and temporal lobe involvement in the interictal hypometabolism of unilateral temporal lobe epilepsy. Ipsilateral frontal, parietal, and basal ganglial metabolism is also reduced, although not as markedly as is temporal and thalamic metabolism

  11. [A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit].

    Science.gov (United States)

    Ochoa-Gómez, Laura; López-Pisón, Javier; Lapresta Moros, Carlos; Fuertes Rodrigo, Cristina; Fernando Martínez, Ruth; Samper-Villagrasa, Pilar; Monge-Galindo, Lorena; Peña-Segura, José Luis; García-Jiménez, María Concepción

    2017-01-01

    A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years. Historical cohorts study was conducted by reviewing the Paediatric Neurology medical records data base of epileptic children followed-up from 1 January 2008 to 31 December 2010. A total of 4,595 children were attended during the study period. The diagnosis of epilepsy was established in 605 (13.17%): 277 (45.79%) symptomatic, 156 (25.79%) idiopathic, and 172 (28.43%) with cryptogenic epilepsy. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent, and the most prevalent symptomatic epilepsies are prenatal encephalopathies. More than one-quarter (26.12%) of epilepsies began in the first year of life, and 67.72% were symptomatic. Refractory epilepsy was observed in 25.29%, 42.46% with cognitive impairment, 26.45% with motor involvement, and 9.92% with an autism spectrum disorder, being more frequent at an earlier age of onset. The absence of a universally accepted classification of epileptic syndromes makes tasks like this difficult, starting with the terminology. A useful classification would be aetiological, with two groups: a large group with established aetiology, or very likely genetic syndromes, and another with no established cause. The age of onset of epilepsy in each aetiological group helps in the prognosis, which is worsened by refractoriness and associated neurodevelopmental disorders, and are generally worse at an earlier onset and in certain aetiologies. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Epilepsy surgery and neurocysticercosis: Assessing the role of the cysticercotic lesion in medically-refractory epilepsy.

    Science.gov (United States)

    Escalaya, Alejandro L; Burneo, Jorge G

    2017-11-01

    There is increasing evidence of the existence of refractoriness to treatment with antiepileptic medications in those with NCC-related epilepsy. We performed a systematic review with the objective to determine the role of a cysticercotic lesion in this group of patients. We sought those manuscripts, including case reports, describing patients with NCC-related medically-intractable epilepsy who underwent epilepsy surgery and were seizure-free a year after. Only 10 manuscripts fulfilled inclusion and exclusion criteria. Three different clinical presentations were identified: 1) the cysticercotic lesion was epileptogenic, 2) there was dual pathology, including the cysticercotic lesion, with the other lesion usually being hippocampal sclerosis, and 3) the cysticercotic lesion was not related to the epileptogenic focus. In the case of an epileptogenic cysticercotic lesion, the presence of gliosis appeared to be the culprit for epileptogenicity. More studies using large cohorts of patients might be able to confirm our findings. This article is part of a Special issue entitled "Neurocysticercosis and Epilepsy". Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Diagnosing and treating depression in epilepsy.

    Science.gov (United States)

    Elger, Christian E; Johnston, Samantha A; Hoppe, Christian

    2017-01-01

    At least one third of patients with active epilepsy suffer from significant impairment of their emotional well-being. A targeted examination for possible depression (irrespective of any social, financial or personal burdens) can identify patients who may benefit from medical attention and therapeutic support. Reliable screening instruments such as the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) are suitable for the timely identification of patients needing help. Neurologists should be capable of managing mild to moderate comorbid depression but referral to mental health specialists is mandatory in severe and difficult-to-treat depression, or if the patient is acutely suicidal. In terms of the therapeutic approach, it is essential first to optimize seizure control and minimize unwanted antiepileptic drug-related side effects. Psychotherapy for depression in epilepsy (including online self-treatment programs) is underutilized although it has proven effective in ten well-controlled trials. In contrast, the effectiveness of antidepressant drugs for depression in epilepsy is unknown. However, if modern antidepressants are used (e.g. SSRI, SNRI, NaSSA), concerns about an aggravation of seizures and or problematic interactions with antiepileptic drugs seem unwarranted. Epilepsy-related stress ("burden of epilepsy") explains depression in many patients but acute and temporary seizure-related states of depression or suicidality have also been reported. Limbic encephalitits may cause isolated mood alteration without any recognizable psychoetiological background indicating a possible role of neuroinflammation. This review will argue that, overall, a bio-psycho-social model best captures the currently available evidence relating to the etiology and treatment of depression as a comorbidity of epilepsy. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  14. VGKC complex antibodies in epilepsy: diagnostic yield and therapeutic implications.

    Science.gov (United States)

    Lilleker, James B; Jones, Matthew S; Mohanraj, Rajiv

    2013-11-01

    In a significant number of patients developing epilepsy in adult life, the aetiology of their seizures remains unclear. Antibodies directed against the voltage gated potassium channel complex (VGKC Ab) have been identified in various cohorts of patients with epilepsy, although the role of these antibodies in epilepsy pathogenesis is not fully known. We reviewed the notes of 144 patients with unexplained adult onset epilepsy who had been tested for VGKC Abs. We collected data on their clinical syndrome, investigation results and response to treatment. We identified 6 (4.2%) patients who had titres of >400 pM. One of the six patients was positive for LGI1 and another for CASPR2 subunit antibodies. All patients were given immunotherapy and experienced improvement in seizure control. No patient had the clinical syndrome of limbic encephalitis. Patients with otherwise unexplained epilepsy and positive VGKC Abs are a heterogeneous group. In our cohort there was an overall favourable response to immunotherapy but further prospective studies are needed to determine the significance of these antibodies and the optimum treatment regimen for patients. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  15. Magnetic resonance imaging in temporal lobe epilepsy. Usefulness for the etiological diagnosis of temporal lobe epilepsy

    International Nuclear Information System (INIS)

    Mohamed, A.; Lueders, H.O.

    2000-01-01

    With improvement in magnetic resonance (MR) imaging techniques, the ability to identify lesions responsible for temporal lobe epilepsy has increased. MR imaging has also enabled the in vivo diagnosis of hippocampal sclerosis. Brain tumors are responsible for 2-4% of epilepsies in adult population and 10-20% of medically intractable epilepsy. The sensitivity of MR imaging in the diagnosis of tumors and other lesions of the temporal lobe (vascular malformations, etc.) is around 90%. Both hippocampal sclerosis and other temporal lobe lesions are amenable to surgical therapy with excellent postsurgical seizure outcome. In this article, we characterize and underline distinguishing features of the different pathological entities. We also suggest an approach to reviewing the MR images of an epileptic patient. (author)

  16. Welfare cost of childhood- and adolescent-onset epilepsy: A controlled national study

    DEFF Research Database (Denmark)

    Jennum, Poul; Pickering, Line; Christensen, Jakob

    2016-01-01

    OBJECTIVES: Epilepsy is associated with a significant burden to patients and society. We calculated the factual excess in direct and indirect costs associated with childhood- and adolescent-onset epilepsy. METHODS: Using records from the Danish National Patient Registry (1998-2002), we identified...... 3123 and 5018 patients with epilepsy aged 0-5years and 6-20years at the time of diagnosis, respectively. The two age groups of patients with epilepsy were matched to 6246 and 10,036 control persons without epilepsy, respectively, by gender, age, and geography. The controls were randomly chosen from...... consequences for the individual person with epilepsy and for society....

  17. Disobedience and driving in patients with epilepsy in Greece.

    Science.gov (United States)

    Zis, Panagiotis; Siatouni, Anna; Kimiskidis, Vassilios K; Verentzioti, Anastasia; Kefalonitis, Georgios; Triantafyllou, Nikolaos; Gatzonis, Stylianos

    2014-12-01

    Regulations and guidelines regarding driving privileges of patients with epilepsy vary greatly worldwide. The aim of our study was twofold: firstly, to evaluate disobedient drivers in Greece and to elucidate their awareness of the law, emotional responses, and seizure profile and, secondly, to identify determinants of disobedience regarding driving among patients with epilepsy. All consecutive patients with epilepsy who visited the epilepsy outpatient clinic of two tertiary epilepsy centers were invited to participate in the study. One hundred ninety patients met our inclusion criteria. Fifty-two percent of our study population was aware of the driving restrictions. More than one out of three patients were disobedient (35.8%). Being a male was associated with a 6.07-fold increase in the odds of being disobedient (95% CI: 2.73-13.47, p important determinants of disobedience regarding driving among patients with epilepsy. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. Should spikes on post-resection ECoG guide pediatric epilepsy surgery?

    Science.gov (United States)

    Greiner, Hansel M; Horn, Paul S; Tenney, Jeffrey R; Arya, Ravindra; Jain, Sejal V; Holland, Katherine D; Leach, James L; Miles, Lili; Rose, Douglas F; Fujiwara, Hisako; Mangano, Francesco T

    2016-05-01

    There is wide variation in clinical practice regarding the role of electrocorticography immediately after resection (post-resection ECoG) for pediatric epilepsy surgery. Results can guide further resection of potentially epileptogenic tissue. We hypothesized that post-resection ECoG spiking represents a biomarker of the epileptogenic zone and predicts seizure outcome in children undergoing epilepsy surgery. We retrospectively identified 124 children with post-resection ECoG performed on the margins of resection. ECoG records were scored in a blinded fashion based on presence of frequent spiking. For patients identified as having additional resection based on clinical post-resection ECoG interpretation, these "second-look" ECoG results were re-reviewed for ongoing discharges or completeness of resection. Frequent spike populations were grouped using a standard scoring system into three ranges: 0.1-0.5Hz, 0.5-1Hz, >1Hz. Seizure outcomes were determined at minimum 12-month followup. Of 124 patients who met inclusion criteria, 60 (48%) had an identified spike population on post-resection ECoG. Thirty (50%) of these had further resection based on clinical interpretation. Overall, good outcome (ILAE 1) was seen in 56/124 (45%). Completeness of resection of spiking (absence of spiking on initial post-resection ECoG or resolution of spiking after further resection) showed a trend toward good outcome (OR 2.03, p=0.099). Patients with completeness of resection had good outcome in 41/80 (51%) of cases; patients with continued spikes had good outcome in 15/44 (35%) of cases. Post-resection ECoG identifies residual epileptogenic tissue in a significant number of children. Lower frequency or absence of discharges on initial recording showed a trend toward good outcome. Completeness of resection demonstrated on final ECoG recording did not show a significant difference in outcome. This suggests that post-resection discharges represent a prognostic marker rather than a remediable

  19. Welfare consequences for people with epilepsy and their partners

    DEFF Research Database (Denmark)

    Jennum, Poul; Sabers, Anne; Christensen, Jakob

    2017-01-01

    PURPOSE: We aimed to evaluate the excess direct and indirect costs associated with epilepsy. METHODS: From the Danish National Patient Registry (1998-2013), we identified people within all ages with an epilepsy diagnosis and matched them to control individuals. Additionally, partners of people wi...

  20. A hopelessness model of depressive symptoms in youth with epilepsy.

    Science.gov (United States)

    Wagner, Janelle L; Smith, Gigi; Ferguson, Pamela L; Horton, Stephanie; Wilson, Erin

    2009-01-01

    To test the cognitive diathesis-stress and mediational components of the theory of learned hopelessness in youth with epilepsy. Seventy-seven participants ages 9-17 (35 girls, 42 boys) completed measures of depressive symptoms, hopelessness, self-efficacy for seizure management, and attitude toward epilepsy. Caregivers provided information on seizure activity. Diagnostic and treatment information was obtained via medical record review. Regression analyses revealed that hopelessness mediated the attitude towards epilepsy-depressive symptom relationship. While attitude toward epilepsy and self-efficacy were independent predictors of depressive symptoms, the relationship of attitudes toward epilepsy and depressive symptoms was not enhanced with low self-efficacy for seizure management. Findings support the mediation component of the learned hopelessness theory in youth with epilepsy, suggesting the importance of interventions that assist youth in identifying epilepsy-related aspects of functioning over which they can realistically exercise control and challenging negative thoughts about situations they cannot control.

  1. Epilepsy

    Science.gov (United States)

    Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters ... may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, ...

  2. Persons with Epilepsy: Between Social Inclusion and Marginalisation

    Directory of Open Access Journals (Sweden)

    Simona Mlinar

    2016-01-01

    Full Text Available Background. Epilepsy is a chronic neurological disorder that can lead to complex psychosocial consequences. Epilepsy can change the social status of persons with epilepsy (PWE and has an effect on their social inclusion as well as their perception of social inclusion. This study aims to explore subjective experiences with social inclusion of PWE in Slovenia. Methods. This study takes a qualitative approach. Eleven semistructured interviews were conducted with eleven participants. Interviews were analysed using thematic analysis. Results. Epilepsy has physical, emotional, and social consequences. Physical consequences of epilepsy are mainly tiredness and exhaustion following an epileptic episode, frequently accompanied by headaches. Emotional consequences are different forms of fear. The main social consequence identified is a negative effect on PWE’s social network, which leads to (self-isolation and social distrust. Conclusion. PWE experience of social inclusion depends on various psychosocial factors and differs from person to person. The consequences of epilepsy are shown in PWE social contacts and their sense of social inclusion and autonomy.

  3. Resection of individually identified high-rate high-frequency oscillations region is associated with favorable outcome in neocortical epilepsy

    Czech Academy of Sciences Publication Activity Database

    Cho, J.R.; Koo, D.L.; Joo, E.Y.; Seo, D.W.; Hong, S.-Ch.; Jiruška, Přemysl; Hong, S.B.

    2014-01-01

    Roč. 55, č. 11 (2014), s. 1872-1883 ISSN 0013-9580 R&D Projects: GA MZd(CZ) NT14489 Institutional support: RVO:67985823 Keywords : epilepsy surgery * high-frequency oscillations * neocortical epilepsy Subject RIV: FH - Neurology Impact factor: 4.571, year: 2014

  4. AAN Epilepsy Quality Measures in clinical practice: a survey of neurologists.

    Science.gov (United States)

    Wasade, Vibhangini S; Spanaki, Marianna; Iyengar, Revathi; Barkley, Gregory L; Schultz, Lonni

    2012-08-01

    Epilepsy Quality Measures (EQM) were developed by the American Academy of Neurology (AAN) to convey standardization and eliminate gaps and variations in the delivery of epilepsy care (Fountain et al., 2011 [1]). The aim of this study was to identify adherence to these measures and other emerging practice standards in epilepsy care. A 15-item survey was mailed to neurologists in Michigan, USA, inquiring about their practice patterns in relation to EQM. One hundred thirteen of the 792 surveyed Michigan Neurologists responded (14%). The majority (83% to 94%) addressed seizure type and frequency, reviewed EEG and MRI, and provided pregnancy counseling to women of childbearing potential. Our survey identified gaps in practice patterns such as counseling about antiepileptic drug (AED) side effects and knowledge about referral for surgical therapy of intractable epilepsy. Statistical significance in the responses on the AAN EQM was noted in relation to number of years in practice, number of epilepsy patients seen, and additional fellowship training in epilepsy. Practice patterns assessment in relation to other comorbidities revealed that although bone health and sudden unexplained death in epilepsy are addressed mainly in patients at risk, depression is infrequently discussed. The findings in this study indicate that additional educational efforts are needed to increase awareness and to improve quality of epilepsy care at various points of health care delivery. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.

    Science.gov (United States)

    Kasperaviciūte, Dalia; Catarino, Claudia B; Heinzen, Erin L; Depondt, Chantal; Cavalleri, Gianpiero L; Caboclo, Luis O; Tate, Sarah K; Jamnadas-Khoda, Jenny; Chinthapalli, Krishna; Clayton, Lisa M S; Shianna, Kevin V; Radtke, Rodney A; Mikati, Mohamad A; Gallentine, William B; Husain, Aatif M; Alhusaini, Saud; Leppert, David; Middleton, Lefkos T; Gibson, Rachel A; Johnson, Michael R; Matthews, Paul M; Hosford, David; Heuser, Kjell; Amos, Leslie; Ortega, Marcos; Zumsteg, Dominik; Wieser, Heinz-Gregor; Steinhoff, Bernhard J; Krämer, Günter; Hansen, Jörg; Dorn, Thomas; Kantanen, Anne-Mari; Gjerstad, Leif; Peuralinna, Terhi; Hernandez, Dena G; Eriksson, Kai J; Kälviäinen, Reetta K; Doherty, Colin P; Wood, Nicholas W; Pandolfo, Massimo; Duncan, John S; Sander, Josemir W; Delanty, Norman; Goldstein, David B; Sisodiya, Sanjay M

    2010-07-01

    Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered study. We undertook a genome-wide association-study to identify common variants which influence risk for epilepsy shared amongst partial epilepsy syndromes, in 3445 patients and 6935 controls of European ancestry. We did not identify any genome-wide significant association. A few single nucleotide polymorphisms may warrant further investigation. We exclude common genetic variants with effect sizes above a modest 1.3 odds ratio for a single variant as contributors to genetic susceptibility shared across the partial epilepsies. We show that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans. The genetic architecture of the partial epilepsies is likely to be very complex, reflecting genotypic and phenotypic heterogeneity. Larger meta-analyses are required to identify variants of smaller effect sizes (odds ratio<1.3) or syndrome-specific variants. Further, our results suggest research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial epilepsies. Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies.

  6. Epilepsy and driving

    Directory of Open Access Journals (Sweden)

    Matej Mavrič

    2015-05-01

    Full Text Available Epilepsy poses a risk for all participants in road traffic; therefore people with epilepsy do not meet the criteria for an unlimited driving license. Their driving is affected not only by epileptic seizures causing impaired consciousness and involuntary movements, but also by antiepileptic drugs with their many unwanted affects. The experts have not yet agreed on whether people with epilepsy have an increased risk of experiencing a road traffic accident. However, recent data suggests that the overall risk is lower compared to other medical conditions. Scientific evidence forms the basis of legislation, which by limiting people with epilepsy, enables all participants in road traffic to drive in the safest possible environment. The legislation that governs epilepsy and driving in Slovenia has been recently thoroughly reformed and thus allows a less discriminatory management of people with epilepsy. Although people with epilepsy experience many issues in their daily life, including their personal relationships and employment, they often list the need for driving as a top concern in surveys. General physicians play an important role in managing the issues of people with epilepsy.

  7. Epilepsie aktuell

    DEFF Research Database (Denmark)

    Berendt, Mette; Hüelsmeyer, Velia-Isabel; Bhatti, Sofie F. M.

    2016-01-01

    of the consensus statements “IVETF consensus report on epilepsy definition, classification and terminology in companion animals” and “IVETF’s current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs” in German language to inform German veterinarians and professional...... circles about new knowledge and innovations in these fields. In the first part of the article, it is explained, why a new classification system of epilepsy and a common language to describe the disease is necessary. The proposals of the IVETF regarding the classification system and the terminology...... Richtlinien zur Klassifikation und Empfehlungen zu allen Aspekten der Epilepsie bei Hund und Katze in englischer Sprache publiziert (IVETF, 2015a, b). Im vorliegenden Artikel werden die Inhalte der Konsenspapiere „IVETF consensus report on epilepsy definition, classification and terminology in companion...

  8. Psychiatric and behavioral side effects of anti-epileptic drugs in adolescents and children with epilepsy.

    Science.gov (United States)

    Chen, B; Detyniecki, K; Choi, H; Hirsch, L; Katz, A; Legge, A; Wong, R; Jiang, A; Buchsbaum, R; Farooque, P

    2017-05-01

    The objective of the study was to compare the psychiatric and behavioral side effect (PBSE) profiles of both older and newer antiepileptic drugs (AEDs) in children and adolescent patients with epilepsy. We used logistic regression analysis to test the correlation between 83 non-AED/patient related potential predictor variables and the rate of PBSE. We then compared for each AED the rate of PBSEs and the rate of PBSEs that led to intolerability (IPBSE) while controlling for non-AED predictors of PBSEs. 922 patients (≤18 years old) were included in our study. PBSEs and IPBSEs occurred in 13.8% and 11.2% of patients, respectively. Overall, a history of psychiatric condition, absence seizures, intractable epilepsy, and frontal lobe epilepsy were significantly associated with increased PBSE rates. Levetiracetam (LEV) had the greatest PBSE rate (16.2%). This was significantly higher compared to other AEDs. LEV was also significantly associated with a high rate of IPBSEs (13.4%) and dose-decrease rates due to IPBSE (6.7%). Zonisamide (ZNS) was associated with significantly higher cessation rate due to IPBSE (9.1%) compared to other AEDs. Patients with a history of psychiatric condition, absence seizures, intractable epilepsy, or frontal lobe epilepsy are more likely to develop PBSE. PBSEs appear to occur more frequently in adolescent and children patients taking LEV compared to other AEDs. LEV-attributed PBSEs are more likely to be associated with intolerability and subsequent decrease in dose. The rate of ZNS-attributed IPBSEs is more likely to be associated with complete cessation of AED. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  9. Epilepsy research methods update: Understanding the causes of epileptic seizures and identifying new treatments using non-mammalian model organisms.

    Science.gov (United States)

    Cunliffe, Vincent T; Baines, Richard A; Giachello, Carlo N G; Lin, Wei-Hsiang; Morgan, Alan; Reuber, Markus; Russell, Claire; Walker, Matthew C; Williams, Robin S B

    2015-01-01

    This narrative review is intended to introduce clinicians treating epilepsy and researchers familiar with mammalian models of epilepsy to experimentally tractable, non-mammalian research models used in epilepsy research, ranging from unicellular eukaryotes to more complex multicellular organisms. The review focuses on four model organisms: the social amoeba Dictyostelium discoideum, the roundworm Caenorhabditis elegans, the fruit fly Drosophila melanogaster and the zebrafish Danio rerio. We consider recent discoveries made with each model organism and discuss the importance of these advances for the understanding and treatment of epilepsy in humans. The relative ease with which mutations in genes of interest can be produced and studied quickly and cheaply in these organisms, together with their anatomical and physiological simplicity in comparison to mammalian species, are major advantages when researchers are trying to unravel complex disease mechanisms. The short generation times of most of these model organisms also mean that they lend themselves particularly conveniently to the investigation of drug effects or epileptogenic processes across the lifecourse. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  10. Clinical characteristics and treatment responses in new-onset epilepsy in the elderly.

    Science.gov (United States)

    Tanaka, Akihiro; Akamatsu, Naoki; Shouzaki, Taisaku; Toyota, Tomoko; Yamano, Mitsuhiko; Nakagawa, Masanori; Tsuji, Sadatoshi

    2013-11-01

    Epidemiologic studies have shown that the incidence of epilepsy is the highest in the elderly population. Because the elderly constitutes the most rapidly growing population, epilepsy in this group is an important health issue worldwide. To identify the characteristics of epilepsy in the elderly, we reviewed our experience at a tertiary referral center in Japan. We searched all electronic medical records of the past 6 years at the epilepsy clinic of the hospital affiliated to our University-affiliated hospital. We defined an elderly person as an individual aged 65 years and above. All patients underwent history and physical examinations, 3T magnetic resonance imaging and/or computer tomography, and electroencephalogram (EEG). The diagnosis of epilepsy, age of onset, etiology, and antiepileptic medication were recorded. We identified 70 patients who developed epilepsy after the age of 65 years. The mean age of seizure onset was 73.1 years and 52.9% patients were males. Complex partial seizures (CPS) without secondarily generalization (n=33, 47.1%) were most frequent. The most frequent diagnosis was temporal lobe epilepsy (n=50, 71.4%). Etiological diagnosis was possible in nearly 50% patients, including those with cerebrovascular disease. A clear cause of epilepsy was not found (i.e., non-lesional epilepsy) in 52.8% patients. Interictal EEG revealed focal epileptiform discharges in 72.9% (n=51) patients. Of the 54 patients who were followed more than 1 year, 42 patients (77.8%) were on antiepileptic monotherapy and 52 patients (96.3%) had been seizure-free for more than 1 year. The most frequent diagnosis in our cohort of elderly persons with new-onset epilepsy was temporal lobe epilepsy. Non-lesional temporal lobe epilepsy was not uncommon. Epileptogenecity was relatively low in elderly patients and they responded well to antiepileptic medication. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  11. Prevalence of epilepsy in children from a Brazilian area of high deprivation.

    Science.gov (United States)

    Sampaio, Letícia P B; Caboclo, Luis Otávio S F; Kuramoto, Karina; Reche, Angela; Yacubian, Elza Márcia T; Manreza, Maria Luiza G

    2010-02-01

    This study assessed the prevalence rate of epilepsy and its causes in children and adolescents in one area of high deprivation in São Paulo, São Paulo, in Southeast Brazil. Between July 2005 and June 2006, 4947 families from a population of 22,013 inhabitants (including 10,405 children and adolescents between the ages of 0 and 16 years) living in the shantytown of Paraisópolis, were interviewed. In the first phase, a validated questionnaire was administered, to identify the occurrence of seizures. In the second phase, clinical history, neurologic examination, electroencephalography, and structural neuroimaging were performed. The diagnosis of epilepsy, including etiology, seizure types, and epileptic syndrome classification, was according to criteria of the International League Against Epilepsy. The screening phase identified 353 presumptive cases. In the second phase, 101 of these cases (33.8%) received the diagnosis of epilepsy. Crude prevalence of epilepsy was 9.7/1000 and prevalence of active epilepsy was 8.7/1000. Partial seizures were the most frequent seizure type (62/101). Symptomatic focal epilepsy was the most common form, and hypoxic-ischemic encephalopathy the most common etiology, reflecting the socioeconomic conditions of this specific population. Adequate public policies regarding perinatal assistance could help reduce the prevalence of epilepsy.

  12. Trends in pediatric epilepsy surgery.

    Science.gov (United States)

    Shah, Ritesh; Botre, Abhijit; Udani, Vrajesh

    2015-03-01

    Epilepsy surgery has become an accepted treatment for drug resistant epilepsy in infants and children. It has gained ground in India over the last decade. Certain epilepsy surgically remediable syndromes have been delineated and should be offered surgery earlier rather than later, especially if cognitive/behavioral development is being compromised. Advances in imaging, particularly in MRI has helped identify surgical candidates. Pre-surgical evaluation includes clinical assessment, structural and functional imaging, inter-ictal EEG, simultaneous video -EEG, with analysis of seizure semiology and ictal EEG and other optional investigations like neuropsychology and other newer imaging techniques. If data are concordant resective surgery is offered, keeping in mind preservation of eloquent cortical areas subserving motor, language and visual functions. In case of discordant data or non-lesional MRI, invasive EEG maybe useful using a two-stage approach. With multi-focal / generalized disease, palliative surgery like corpus callosotomy and vagal nerve stimulation maybe useful. A good outcome is seen in about 2/3rd of patients undergoing resective surgery with a low morbidity and mortality. This review outlines important learning aspects of pediatric epilepsy surgery for the general pediatrician.

  13. Benign occipital epilepsy of childhood: Panayiotopoulos syndrome in a 3 year old child

    Directory of Open Access Journals (Sweden)

    Menon Narayanankutty Sunilkumar , Vadakut Krishnan Parvathy

    2014-11-01

    Full Text Available Panayiotopoulos syndrome (PS is a relatively frequent and benign epileptic syndrome seen in children in the age group of 3-6 years and is characterised by predominantly autonomic symptoms and/or simple motor focal seizures followed or not by impairment of consciousness. Although multifocal spikes with high amplitude sharp-slow wave complexes at various locations can be present in the EEG, interictal electroencephalogram (EEG in children with this particular type of epilepsy characteristically shows occipital spikes. This syndrome has known to be a masquerader and can imitate gastroenteritis, encephalitis, syncope, migraine, sleep disorders or metabolic diseases. In the absence of thorough knowledge of types of benign epilepsy syndromes and their various clinical presentations, epilepsy such as PS can be easily missed. The peculiar aspects of this type of epilepsy in children should be known not only by paediatricians but also by general doctors because a correct diagnosis would avoid aggressive interventions and concerns on account of its benign outcome. In this case study, we report a case of PS in a 3 year old child.

  14. Parental anxiety in childhood epilepsy: A systematic review.

    Science.gov (United States)

    Jones, Chloe; Reilly, Colin

    2016-04-01

    The aim was to systematically review studies that have focused on symptoms of anxiety reported by parents of children (0-18 years) with epilepsy. PubMed was used to identify relevant studies. Selected studies were reviewed with respect to prevalence of above threshold scores and comparisons with controls on standardized measures of anxiety. Studies are also reported with respect to factors associated with parental anxiety, impact on child outcomes, and comparisons with studies that have included equivalent measures of symptoms of depression. Fifteen studies that met inclusion criteria were identified. None of the studies were population based. The percentage of parents scoring above cutoffs on standardized measures of anxiety was 9-58%. In comparison with parents of healthy controls, parents of children with epilepsy had higher mean scores in two of three studies where this was measured. Possible correlates of parental anxiety in childhood epilepsy that were considered varied widely across studies. Factors such as seizure frequency and use of antiepileptic drugs (AEDs) have been associated with parental anxiety in some but not all studies. With respect to child outcome, increased parental anxiety has been associated with lower quality of life and lower scores on adaptive behavior domains. Symptoms of anxiety are common among parents of children with epilepsy. There is a need for more systematic, representative studies to identify the prevalence of clinically significant anxiety and track the course of symptoms. Such studies will help to identify more clearly factors associated with parental anxiety and impact of symptoms on child and parent outcomes. Intervention studies are needed to evaluate approaches that target a reduction in symptoms and the potential impact on parental and child functioning. Furthermore, there is a need to evaluate the impact of antiepileptic therapies and interventions that focus on child neurobehavioral comorbidities on parental anxiety

  15. Low job satisfaction does not identify nurses at risk of future sickness absence: results from a Norwegian cohort study.

    Science.gov (United States)

    Roelen, C A M; Magerøy, N; van Rhenen, W; Groothoff, J W; van der Klink, J J L; Pallesen, S; Bjorvatn, B; Moen, B E

    2013-03-01

    Sickness absence is high in healthcare and contributes to nursing staff shortages reducing the efficiency and quality of patient care. Assessing the risk of sickness absence in working nurses opens opportunities for preventive strategies. Job satisfaction has attracted much attention in healthcare research and has been associated with sickness absence among nurses. To investigate if job satisfaction scores are useful to identify working nurses at risk of future sickness absence. Prospective cohort study with a baseline period from November 2008 to March 2009 and 1-year follow-up. Hospitals, nursing homes, and ambulant care settings in Norway. 2059 Norwegian nurses, of whom 1582 (77%) could be followed-up. Nurses received a questionnaire at baseline and after 1-year follow-up. The questionnaire contained the Job Satisfaction Index (JSI), a 5-item scale measuring overall job satisfaction, and asked for sickness absence in the last 12 months. Baseline JSI scores were included in a logistic regression model with self-rated sickness absence at 1-year follow-up as outcome variable. Predictions of sickness absence were calibrated by the Hosmer-Lemeshow goodness-of-fit test. The ability of JSI scores to discriminate between nurses with and without sickness absence was examined by receiver operating characteristic analysis and expressed as area under the curve (AUC). Low job satisfaction was associated with higher odds of sickness absence (odds ratio [OR]=1.05; 95% confidence interval [CI] 1.01-1.09) and high (≥ 31 days) sickness absence (OR=1.10; 95% CI 1.06-1.14). Calibration was acceptable, but job satisfaction neither discriminated between nurses with and without sickness absence (AUC=0.54; 95% CI 0.51-0.58) nor between nurses with and without high (≥ 31 days) sickness absence (AUC=0.58; 95% CI 0.54-0.63). The results of this study indicated that job satisfaction was associated with sickness absence, though job satisfaction scores as measured with the JSI did not

  16. Epilepsy in Ireland: towards the primary-tertiary care continuum.

    Science.gov (United States)

    Varley, Jarlath; Delanty, Norman; Normand, Charles; Coyne, Imelda; McQuaid, Louise; Collins, Claire; Boland, Michael; Grimson, Jane; Fitzsimons, Mary

    2010-01-01

    Epilepsy is a chronic neurological disease affecting people of every age, gender, race and socio-economic background. The diagnosis and optimal management relies on contribution from a number of healthcare disciplines in a variety of healthcare settings. To explore the interface between primary care and specialist epilepsy services in Ireland. Using appreciative inquiry, focus groups were held with healthcare professionals (n=33) from both primary and tertiary epilepsy specialist services in Ireland. There are significant challenges to delivering a consistent high standard of epilepsy care in Ireland. The barriers that were identified are: the stigma of epilepsy, unequal access to care services, insufficient human resources, unclear communication between primary-tertiary services and lack of knowledge. Improving the management of people with epilepsy requires reconfiguration of the primary-tertiary interface and establishing clearly defined roles and formalised clinical pathways. Such initiatives require resources in the form of further education and training and increased usage of information communication technology (ICT). Epilepsy services across the primary-tertiary interface can be significantly enhanced through the implementation of a shared model of care underpinned by an electronic patient record (EPR) system and information communication technology (ICT). Better chronic disease management has the potential to halt the progression of epilepsy with ensuing benefits for patients and the healthcare system. Copyright 2009 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  17. Autosomal dominant cortical tremor, myoclonus and epilepsy.

    Science.gov (United States)

    Striano, Pasquale; Zara, Federico

    2016-09-01

    The term 'cortical tremor' was first introduced by Ikeda and colleagues to indicate a postural and action-induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others). The disease usually takes a benign course, although drug-resistant focal seizures or slight intellectual disability occur in some cases. Moreover, a worsening of cortical tremor and myoclonus is common in advanced age. Although not yet recognized by the International League Against Epilepsy (ILAE), this is a well-delineated epilepsy syndrome with remarkable features that clearly distinguishes it from other myoclonus epilepsies. Moreover, genetic studies of these families show heterogeneity and different susceptible chromosomal loci have been identified.

  18. The molecular and phenotypic spectrum of IQSEC2-related epilepsy

    NARCIS (Netherlands)

    Zerem, A.; Haginoya, K.; Lev, D.; Blumkin, L.; Kivity, S.; Linder, I.; Shoubridge, C.; Palmer, E.E.; Field, M.; Boyle, J.; Chitayat, D.; Gaillard, W.D.; Kossoff, E.H.; Willems, M.; Genevieve, D.; Tran-Mau-Them, F.; Epstein, O.; Heyman, E.; Dugan, S.; Masurel-Paulet, A.; Piton, A.; Kleefstra, T.; Pfundt, R.; Sato, R.; Tzschach, A.; Matsumoto, N.; Saitsu, H.; Leshinsky-Silver, E.; Lerman-Sagie, T.

    2016-01-01

    OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline

  19. DEPDC5 as a potential therapeutic target for epilepsy.

    Science.gov (United States)

    Myers, Kenneth A; Scheffer, Ingrid E

    2017-06-01

    Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy. Areas covered: This review summarizes the mTOR pathway, including regulators and downstream effectors, emphasizing recent developments in the understanding of the complex role of the GATOR1 complex. We review the epilepsy types associated with mTOR overactivity, including tuberous sclerosis, polyhydramnios megalencephaly symptomatic epilepsy, cortical dysplasia, non-lesional focal epilepsy and post-traumatic epilepsy. Currently available mTOR inhibitors are discussed, primarily rapamycin analogs and ATP competitive mTOR inhibitors. Expert opinion: DEPDC5 is an attractive therapeutic target in focal epilepsy, as effects of DEPDC5 agonists would likely be anti-epileptogenic and more selective than currently available mTOR inhibitors. Therapeutic effects might be synergistic with certain existing dietary therapies, including the ketogenic diet.

  20. The health-related quality of life of children with refractory epilepsy: a comparison of those with and without intellectual disability.

    Science.gov (United States)

    Sabaz, M; Cairns, D R; Lawson, J A; Bleasel, A F; Bye, A M

    2001-05-01

    To determine whether refractory epilepsy affects the health-related quality of life (HRQOL) of children with or without intellectual disability (ID), and if the presence of ID independently compromises HRQOL in children with refractory epilepsy. Subjects were parents of children with refractory epilepsy, whose syndrome had been defined using ILAE (International League Against Epilepsy) criteria and video-EEG monitoring. Children had the presence or absence of ID determined by formal neuropsychological or educational assessment. The relative effect of epilepsy on the two intellectual ability groups was determined using relevant clinical variables. Parents completed a valid epilepsy-specific HRQOL questionnaire for children, the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE), and, depending on intellectual ability level, the Child Behaviour Checklist or Developmental Behaviour Checklist. Both intellectually normal children with epilepsy and children with epilepsy and ID were more likely to have psychosocial problems compared with their respective intellectual ability reference populations. The results also revealed that children with ID had reduced HRQOL compared with intellectually normal children; a result independent of epilepsy. Analysis of the relationship between epilepsy variables and HRQOL revealed that the QOLCE was the most sensitive in detecting variation in age at onset, seizure frequency, and medications taken. The HRQOL of children with refractory epilepsy is greatly affected, regardless of intellectual ability level. The presence of ID in children with epilepsy independently depresses HRQOL outcomes. Compared with two generic HRQOL measures, the QOLCE was the most sensitive measure to variation in epilepsy variables.

  1. Psychological treatments for adults and children with epilepsy: Evidence-based recommendations by the International League Against Epilepsy Psychology Task Force.

    Science.gov (United States)

    Michaelis, Rosa; Tang, Venus; Goldstein, Laura H; Reuber, Markus; LaFrance, William Curt; Lundgren, Tobias; Modi, Avani C; Wagner, Janelle L

    2018-06-19

    Given the significant impact that psychosocial factors and epilepsy treatments can have on the health-related quality of life (HRQOL) of individuals with epilepsy and their families, there is great clinical interest in the role of psychological evaluation and treatments to improve HRQOL and comorbidities. Therefore, the International League Against Epilepsy (ILAE) charged the Psychology Task Force with the development of recommendations for clinical care based on evaluation of the evidence from their recent Cochrane review of psychological treatments in individuals with epilepsy. The literature search for a recent Cochrane review of randomized controlled trials investigating psychological treatments for individuals with epilepsy constitutes the key source of evidence for this article. To provide practical guidance to service providers, we provide ratings on study research designs based on (1) the American Academy of Neurology's Level of Evidence system and (2) the Grading of Recommendations, Assessment, Development, and Evaluation system. This paper is the culmination of an international collaboration process involving pediatric and adult psychologists, neurologists, psychiatrists, and neuropsychiatrists. The process and conclusions were reviewed and approved by the ILAE Executive Committee. The strongest evidence for psychological interventions was identified for the most common mental health problems, including depression, neurocognitive disturbances, and medication adherence. Psychological interventions targeting the enhancement of HRQOL and adherence and a decrease in comorbidity symptoms (anxiety, depression) should be incorporated into comprehensive epilepsy care. There is a range of psychological strategies (ie, cognitive behavioral therapy and mindfulness-based therapies) that show promise for improving the lives of persons with epilepsy, and clinical recommendations are provided to assist epilepsy health care providers in treating the comorbidities and

  2. Cognitive functions, electroencephalographic and diffusion tensor imaging changes in children with active idiopathic epilepsy.

    Science.gov (United States)

    A Yassine, Imane; M Eldeeb, Waleed; A Gad, Khaled; A Ashour, Yossri; A Yassine, Inas; O Hosny, Ahmed

    2018-07-01

    Neurocognitive impairment represents one of the most common comorbidities occurring in children with idiopathic epilepsy. Diagnosis of the idiopathic form of epilepsy requires the absence of any macrostructural abnormality in the conventional MRI. Though changes can be seen at the microstructural level imaged using advanced techniques such as the Diffusion Tensor Imaging (DTI). The aim of this work is to study the correlation between the microstructural white matter DTI findings, the electroencephalographic changes and the cognitive dysfunction in children with active idiopathic epilepsy. A comparative cross-sectional study, included 60 children with epilepsy based on the Stanford-Binet 5th Edition Scores was conducted. Patients were equally assigned to normal cognitive function or cognitive dysfunction groups. The history of the epileptic condition was gathered via personal interviews. All patients underwent brain Electroencephalography (EEG) and DTI, which was analyzed using FSL. The Fractional Anisotropy (FA) was significantly higher whereas the Mean Diffusivity (MD) was significantly lower in the normal cognitive function group than in the cognitive dysfunction group. This altered microstructure was related to the degree of the cognitive performance of the studied children with epilepsy. The microstructural alterations of the neural fibers in children with epilepsy and cognitive dysfunction were significantly related to the younger age of onset of epilepsy, the poor control of the clinical seizures, and the use of multiple antiepileptic medications. Children with epilepsy and normal cognitive functions differ in white matter integrity, measured using DTI, compared with children with cognitive dysfunction. These changes have important cognitive consequences. Copyright © 2018 Elsevier Inc. All rights reserved.

  3. The Perceived Social Stigma of People with Epilepsy with regard to the Question of Employability

    Directory of Open Access Journals (Sweden)

    Jéssica Lopes de Souza

    2018-01-01

    Full Text Available Objective. To evaluate the perceived social stigma of people with epilepsy with regard to the question of employability. Methods. A structured questionnaire was given to two groups of people with chronic diseases: those with epilepsy (study group and those with heart disease (control group. The questions concerned employability. Results. Having epilepsy was more strongly associated with higher unemployment rates (p<0.0001; job layoffs (p=0.001; being unfit to work (p<0.0001; feeling shame for having the disease (p=0.014; absence of partners (p=0.026; and depression (p=0.004. The tendency to hide their disease from their employers was similar for the two groups. Conclusion. The age discrepancy between groups was an important limiting factor of this study. However, despite the limited number of participants and the age difference between the groups, there is no impediment in stating that people with epilepsy show high rates of unemployment, depression, and stigma.

  4. American Epilepsy Society

    Science.gov (United States)

    ... for the AES Annual Meeting. More info here . Epilepsy Currents American Epilepsy Society Journal Impact Factor More ... P450 enzyme overexpression during spontaneous recurrent seizures More Epilepsy Professional News AES Status Epilepticus guideline for treatment ...

  5. Emotion recognition and social cognition in temporal lobe epilepsy and the effect of epilepsy surgery.

    Science.gov (United States)

    Amlerova, Jana; Cavanna, Andrea E; Bradac, Ondrej; Javurkova, Alena; Raudenska, Jaroslava; Marusic, Petr

    2014-07-01

    The abilities to identify facial expression from another person's face and to attribute mental states to others refer to preserved function of the temporal lobes. In the present study, we set out to evaluate emotion recognition and social cognition in presurgical and postsurgical patients with unilateral refractory temporal lobe epilepsy (TLE). The aim of our study was to investigate the effects of TLE surgery and to identify the main risk factors for impairment in these functions. We recruited 30 patients with TLE for longitudinal data analysis (14 with right-sided and 16 with left-sided TLE) and 74 patients for cross-sectional data analysis (37 with right-sided and 37 with left-sided TLE) plus 20 healthy controls. Besides standard neuropsychological assessment, we administered an analog of the Ekman and Friesen test and the Faux Pas Test to assess emotion recognition and social cognition, respectively. Both emotion recognition and social cognition were impaired in the group of patients with TLE, irrespective of the focus side, compared with healthy controls. The performance in both tests was strongly dependent on the intelligence level. Beyond intelligence level, earlier age at epilepsy onset, longer disease duration, and history of early childhood brain injury predicted social cognition problems in patients with TLE. Epilepsy surgery within the temporal lobe seems to have neutral effect on patients' performances in both domains. However, there are a few individual patients who appear to be at risk of postoperative decline, even when seizure freedom is achieved following epilepsy surgery. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Epilepsy and radiological investigations

    International Nuclear Information System (INIS)

    Tomberg, T.

    2005-01-01

    Epilepsy is a heterogenous group of disorders with multiple causes. Clinical management of epilepsy patients requires knowledge of seizure syndromes, causes, and imaging features. The aim of radiological investigations is to recognize the underlying cause of epilepsy. The main indications for neuroimaging studies are partial and secondarily generalized seizures, patients with neurological signs and intractable seizures, and patients with focal signs on EEG. Partial seizures of any type are more likely to be associated with a focus that may be identified on neuroimaging. MRI is the method of choice for evaluating structural abnormalities of the brain. High resolution MRI and dedicated imaging technique are needed for detection of subtle pathological changes as cortical dysplasias and temporal medial sclerosis. Other lesions that may be detected include neoplasms, vascular malformations, destructive lesions following brain injury, stroke, infection, etc. CT continues to be the technique for the investigation of patients with seizures under certain conditions. New techniques such as functional MRI, MR spectroscopy, SPECT, receptor PET and magnetic source imaging are becoming clinical tools for improving diagnosis [et

  7. Disparities in epilepsy: Report of a systematic review by the North American Commission of the International League Against Epilepsy

    Science.gov (United States)

    Burneo, Jorge G.; Jette, Nathalie; Theodore, William; Begley, Charles; Parko, Karen; Thurman, David J.; Wiebe, Samuel

    2011-01-01

    Summary Purpose We undertook a systematic review of the evidence on disparities in epilepsy with a focus on North American data (Canada, United States, and the English-speaking Caribbean). Methods We identified and evaluated: access to and outcomes following medical and surgical treatment, disability, incidence and prevalence, and knowledge and attitudes. An exhaustive search (1965–2007) was done, including: (1) disparities by socioeconomic status (SES), race/ethnicity, age, or education of subgroups of the epilepsy population; or (2) disparities between people with epilepsy (PWE) and healthy people or with other chronic illnesses. Results From 1,455 citations, 278 eligible abstracts were identified and 44 articles were reviewed. Comparative research data were scarce in all areas. PWE have been shown to have lower education and employment status; among PWE, differences in access to surgery have been shown by racial/ethnic groups. Aboriginals, women, and children have been shown to differ in use of health resources. Poor compliance has been shown to be associated with lower SES, insufficient insurance, poor relationship with treating clinicians, and not having regular responsibilities. Discussion Comprehensive, comparative research on all aspects of disparities in epilepsy is needed to understand the causes of disparities and the development of any policies aimed at addressing health disparities and minimizing their impact. PMID:19732134

  8. Evaluation of deep gray matter volume, cortical thickness and white matter integrity in patients with typical absence epilepsy: a study using voxelwise-based techniques

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    Correa, D.G.; Ventura, N.; Tukamoto, G.; Gasparetto, E.L. [Federal University of Rio de Janeiro, Department of Radiology, Hospital Universitario Clementino Fraga Filho, Rio de Janeiro, RJ (Brazil); Clinica de Diagnostico por Imagem (CDPI), Rio de Janeiro (Brazil); Zimmermann, N. [Federal University of Rio de Janeiro, Department of Radiology, Hospital Universitario Clementino Fraga Filho, Rio de Janeiro, RJ (Brazil); Pontifical Catholic University of Rio Grande do Sul, Department of Psychology, Porto Alegre (Brazil); Doring, T.M. [Clinica de Diagnostico por Imagem (CDPI), Rio de Janeiro (Brazil); Leme, J.; Pereira, M. [Federal University of Rio de Janeiro, Department of Radiology, Hospital Universitario Clementino Fraga Filho, Rio de Janeiro, RJ (Brazil); Andrea, I. d' ; Rego, C.; Alves-Leon, S.V. [Federal University of Rio de Janeiro, Department of Neurology, Epilepsy Center, Hospital Universitario Clementino Fraga Filho, Rio de Janeiro (Brazil)

    2017-03-15

    The objective of this study was to evaluate the cortical thickness and the volume of deep gray matter structures, measured from 3D T1-weighted gradient echo imaging, and white matter integrity, by diffusion tensor imaging (DTI) in patients with typical absence epilepsy (AE). Patients (n = 19) with typical childhood AE and juvenile AE, currently taking antiepileptic medication, were compared with control subjects (n = 19), matched for gender and age. 3D T1 magnetization-prepared rapid gradient echo-weighted imaging and DTI along 30 noncolinear directions were performed using a 1.5-T MR scanner. FreeSurfer was used to perform cortical volumetric reconstruction and segmentation of deep gray matter structures. For tract-based spatial statistics analysis of DTI, a white matter skeleton was created, along with a permutation-based inference with 5000 permutations. A threshold of p < 0.05 was used to identify abnormalities in fractional anisotropy (FA). The mean, radial, and axial diffusivities were also projected onto the mean FA skeleton. Patients with AE presented decreased FA and increased mean diffusivity and radial diffusivity values in the genu and the body of the corpus callosum and right anterior corona radiata, as well as decreased axial diffusivity in the left posterior thalamic radiation, inferior cerebellar peduncle, right cerebral peduncle, and right corticospinal tract. However, there were no significant differences in cortical thickness or deep gray matter structure volumes between patients with AE and controls. Abnormalities found in white matter integrity may help to better understand the pathophysiology of AE and optimize diagnosis and treatment strategies. (orig.)

  9. Evaluation of deep gray matter volume, cortical thickness and white matter integrity in patients with typical absence epilepsy: a study using voxelwise-based techniques

    International Nuclear Information System (INIS)

    Correa, D.G.; Ventura, N.; Tukamoto, G.; Gasparetto, E.L.; Zimmermann, N.; Doring, T.M.; Leme, J.; Pereira, M.; Andrea, I. d'; Rego, C.; Alves-Leon, S.V.

    2017-01-01

    The objective of this study was to evaluate the cortical thickness and the volume of deep gray matter structures, measured from 3D T1-weighted gradient echo imaging, and white matter integrity, by diffusion tensor imaging (DTI) in patients with typical absence epilepsy (AE). Patients (n = 19) with typical childhood AE and juvenile AE, currently taking antiepileptic medication, were compared with control subjects (n = 19), matched for gender and age. 3D T1 magnetization-prepared rapid gradient echo-weighted imaging and DTI along 30 noncolinear directions were performed using a 1.5-T MR scanner. FreeSurfer was used to perform cortical volumetric reconstruction and segmentation of deep gray matter structures. For tract-based spatial statistics analysis of DTI, a white matter skeleton was created, along with a permutation-based inference with 5000 permutations. A threshold of p < 0.05 was used to identify abnormalities in fractional anisotropy (FA). The mean, radial, and axial diffusivities were also projected onto the mean FA skeleton. Patients with AE presented decreased FA and increased mean diffusivity and radial diffusivity values in the genu and the body of the corpus callosum and right anterior corona radiata, as well as decreased axial diffusivity in the left posterior thalamic radiation, inferior cerebellar peduncle, right cerebral peduncle, and right corticospinal tract. However, there were no significant differences in cortical thickness or deep gray matter structure volumes between patients with AE and controls. Abnormalities found in white matter integrity may help to better understand the pathophysiology of AE and optimize diagnosis and treatment strategies. (orig.)

  10. Shortened version of the work ability index to identify workers at risk of long-term sickness absence

    NARCIS (Netherlands)

    Schouten, Lianne S.; Bultmann, Ute; Heymans, Martijn W.; Joling, Catelijne I.; Twisk, Jos W. R.; Roelen, Corne A. M.

    2016-01-01

    Background: The Work Ability Index (WAI) identifies non-sicklisted workers at risk of future long-term sickness absence (LTSA). The WAI is a complicated instrument and inconvenient for use in large-scale surveys. We investigated whether shortened versions of the WAI identify non-sicklisted workers

  11. Pharmacogenomics in epilepsy.

    Science.gov (United States)

    Balestrini, Simona; Sisodiya, Sanjay M

    2018-02-22

    There is high variability in the response to antiepileptic treatment across people with epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the genetics and neurobiology of the epilepsies are establishing the basis for a new era in the treatment of epilepsy, focused on each individual and their specific epilepsy. Variation in response to antiepileptic drug treatment may arise from genetic variation in a range of gene categories, including genes affecting drug pharmacokinetics, and drug pharmacodynamics, but also genes held to actually cause the epilepsy itself. From a purely pharmacogenetic perspective, there are few robust genetic findings with established evidence in epilepsy. Many findings are still controversial with anecdotal or less secure evidence and need further validation, e.g. variation in genes for transporter systems and antiepileptic drug targets. The increasing use of genetic sequencing and the results of large-scale collaborative projects may soon expand the established evidence. Precision medicine treatments represent a growing area of interest, focussing on reversing or circumventing the pathophysiological effects of specific gene mutations. This could lead to a dramatic improvement of the effectiveness and safety of epilepsy treatments, by targeting the biological mechanisms responsible for epilepsy in each specific individual. Whilst much has been written about epilepsy pharmacogenetics, there does now seem to be building momentum that promises to deliver results of use in clinic. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  12. Stigma of epilepsy.

    Science.gov (United States)

    Bandstra, Nancy F; Camfield, Carol S; Camfield, Peter R

    2008-09-01

    Epilepsy directly affects 50 million people worldwide. Most can achieve excellent seizure control; however, people living with epilepsy continue to suffer from enacted or perceived stigma that is based on myths, misconceptions and misunderstandings that have persisted for thousands of years. This paper reviews the frequency and nature of stigma toward epilepsy. Significant negative attitudes prevail in the adolescent and adult public worldwide leading to loneliness and social avoidance both in school and in the workplace. People with epilepsy are often wrongly viewed as having mental health and antisocial issues and as being potentially violent toward others. Twenty-five percent of adults having epilepsy describe social stigma as a result of their epilepsy. They fear rejection and often feel shame or loneliness from this diagnosis. The psychosocial and social impact of epilepsy is significant. Yet few specific interventions have been demonstrated to alter this perception. The effect on public education is primarily short-term, while change over the long-term in attitudes and inaccurate beliefs have not presently been proven effective. School education programming demonstrates improved knowledge and attitude a month after a classroom intervention, but persisting change over a longer period of time has not been evaluated. In-depth adult psycho-educational programs for adults with epilepsy improves knowledge, coping skills and level of felt stigma. However these gains have not demonstrated persistence over time. Myths, misconceptions and misunderstandings about epilepsy continue and programs aimed at increasing knowledge and reducing negative public attitudes should be enhanced.

  13. The Managing Epilepsy Well Network:: Advancing Epilepsy Self-Management.

    Science.gov (United States)

    Sajatovic, Martha; Jobst, Barbara C; Shegog, Ross; Bamps, Yvan A; Begley, Charles E; Fraser, Robert T; Johnson, Erica K; Pandey, Dilip K; Quarells, Rakale C; Scal, Peter; Spruill, Tanya M; Thompson, Nancy J; Kobau, Rosemarie

    2017-03-01

    Epilepsy, a complex spectrum of disorders, affects about 2.9 million people in the U.S. Similar to other chronic disorders, people with epilepsy face challenges related to management of the disorder, its treatment, co-occurring depression, disability, social disadvantages, and stigma. Two national conferences on public health and epilepsy (1997, 2003) and a 2012 IOM report on the public health dimensions of epilepsy highlighted important knowledge gaps and emphasized the need for evidence-based, scalable epilepsy self-management programs. The Centers for Disease Control and Prevention translated recommendations on self-management research and dissemination into an applied research program through the Prevention Research Centers Managing Epilepsy Well (MEW) Network. MEW Network objectives are to advance epilepsy self-management research by developing effective interventions that can be broadly disseminated for use in people's homes, healthcare providers' offices, or in community settings. The aim of this report is to provide an update on the MEW Network research pipeline, which spans efficacy, effectiveness, and dissemination. Many of the interventions use e-health strategies to eliminate barriers to care (e.g., lack of transportation, functional limitations, and stigma). Strengths of this mature research network are the culture of collaboration, community-based partnerships, e-health methods, and its portfolio of prevention activities, which range from efficacy studies engaging hard-to-reach groups, to initiatives focused on provider training and knowledge translation. The MEW Network works with organizations across the country to expand its capacity, help leverage funding and other resources, and enhance the development, dissemination, and sustainability of MEW Network programs and tools. Guided by national initiatives targeting chronic disease or epilepsy burden since 2007, the MEW Network has been responsible for more than 43 scientific journal articles, two

  14. Mortality in epilepsy.

    Science.gov (United States)

    Hitiris, Nikolas; Mohanraj, Rajiv; Norrie, John; Brodie, Martin J

    2007-05-01

    All studies report an increased mortality risk for people with epilepsy compared with the general population. Population-based studies have demonstrated that the increased mortality is often related to the cause of the epilepsy. Common etiologies include neoplasia, cerebrovascular disease, and pneumonia. Deaths in selected cohorts, such as sudden unexpected death in epilepsy (SUDEP), status epilepticus (SE), suicides, and accidents are more frequently epilepsy-related. SUDEP is a particular cause for concern in younger people, and whether and when SUDEP should be discussed with patients with epilepsy remain problematic issues. Risk factors for SUDEP include generalized tonic-clonic seizures, increased seizure frequency, concomitant learning disability, and antiepileptic drug polypharmacy. The overall incidence of SE may be increasing, although case fatality rates remain constant. Mortality is frequently secondary to acute symptomatic disorders. Poor compliance with treatment in patients with epilepsy accounts for a small proportion of deaths from SE. The incidence of suicide is increased, particularly for individuals with epilepsy and comorbid psychiatric conditions. Late mortality figures in patients undergoing epilepsy surgery vary and are likely to reflect differences in case selection. Future studies of mortality should be prospective and follow agreed guidelines to better quantify risk and causation in individual populations.

  15. Epilepsi

    DEFF Research Database (Denmark)

    Sabers, Anne; Kjær, Troels W

    2014-01-01

    Epilepsy affects around 33,000 people in Denmark. The classification of the epilepsies is currently under revision and the clinical course of the disease depends on the underlying aetiology. Diagnostic evaluation includes EEG and often long-term video-EEG monitoring to ensure the diagnosis and cl...

  16. Cognitive function in Nigerian children with newly diagnosed epilepsy: a preliminary report.

    Science.gov (United States)

    Lagunju, Ike Oluwa Abiola; Adeniyi, Yetunde Celia; Olukolade, Gbemi

    2016-01-01

    Epilepsy has long been associated with cognitive dysfunction and educational underachievement. The purpose of the study was to describe the baseline findings from a larger prospective study. New cases of epilepsy aged 6-16 years seen at a paediatric neurology clinic in Ibadan, Nigeria were evaluated for any evidence of cognitive impairment. Intelligence quotient (IQ) of the participants was measured using the Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV). Scores on cognitive subtests and Full Scale IQ (FSIQ) were computed and association between the subsets scores and seizure variables were calculated. 40 children, 24 males and 16 females were studied and their ages ranged from 6 to 16 years with a mean of 10.8 (SD=3.0) years. Global intellectual functioning as measured by the WISC-IV was in the normal range (FSIQ scores intellectual disability. The strongest correlation was between 'caregiver's assessment of school performance' and FSIQ, (r = 0.70; p< 0.001). Age at onset of epilepsy and seizure type had no significant association with scores on the WISC-IV composite scores. There is a high prevalence of significant cognitive dysfunction in Nigerian children with epilepsy, even in the absence of any known brain insult. All children with epilepsy should have routine IQ assessment following diagnosis, in order to allow for early intervention when indicated, and thus, improved outcomes.

  17. Epilepsy and restless legs syndrome.

    Science.gov (United States)

    Geyer, James D; Geyer, Emery E; Fetterman, Zachary; Carney, Paul R

    2017-03-01

    Restless legs syndrome (RLS) is a common neurological movement disorder occurring in approximately 10% of the general population. The prevalence of moderately severe RLS is 2.7% overall (3.7% for women and 1.7% for men). Epilepsy is also a common neurological disorder with significant associated morbidity and impact on quality of life. We evaluated the severity and frequency of primary RLS in patients with localization-related temporal lobe epilepsy (TLE) and investigated the role of prodromal RLS symptoms as a warning sign and lateralizing indicator. All epilepsy patients seen in the outpatient clinic were screened for movement disorders from 2005 to 2015. Ninety-eight consecutive patients with localization-related TLE (50 right TLE and 48 left TLE) who met inclusion criteria were seen in the outpatient clinic. The control group consisted of 50 individuals with no history or immediate family history of epilepsy. Each patient was evaluated with the International Restless Legs Study Group (IRLSSG) questionnaire, NIH RLS diagnostic criteria, ferritin level, and comprehensive sleep screening including polysomnography. Furthermore, patients with obstructive sleep apnea or a definite cause of secondary restless legs syndrome such as low serum ferritin or serum iron levels were also excluded from the study. There was a significant association between the type of epilepsy and whether or not patients had RLS χ 2 (1)=10.17, p<.01, using the χ 2 Goodness of Fit Test. Based on the odds ratio, the odds of patients having RLS were 4.60 times higher if they had right temporal epilepsy than if they had left temporal epilepsy, serving as a potential lateralizing indicator. A prodromal sensation of worsening RLS occurred in some patients providing the opportunity to intervene at an earlier stage in this subgroup. We identified frequent moderate to severe RLS in patients with epilepsy. The frequency of RLS was much more common than would typically be seen in patients of similar

  18. Psychological features and quality of life in 50 adult patients with epilepsy and their caregivers from the Lecco epilepsy center, Italy.

    Science.gov (United States)

    Petruzzi, Alessandra; Rigamonti, Andrea; Finocchiaro, Claudia Yvonne; Borelli, Paolo; Lamperti, Elena; Silvani, Antonio; Regazzoni, Rossana; Stanzani, Lorenzo; Salmaggi, Andrea

    2017-06-01

    Epilepsy is one of the most common neurological disorders. To the best of our knowledge, in Italy, the relationship between patients' and caregivers' psychological state has rarely been analyzed. Thus, we sought to evaluate both the psychological state of patients with epilepsy and that of their caregivers and the interrelationship between them. We also assessed the existing relation between psychological features and some clinical and demographic information, such as number of antiepileptic drugs (AEDs), epilepsy duration and education level of patients and their caregivers. We enrolled in the study 50 consecutive adult patients attending the epilepsy clinic of "A. Manzoni" Hospital and their caregivers. Both patients and their caregivers were administered Hospital Anxiety and Depression Scale (HADS) and 36-item Short-Form Health Survey (SF-36). Anxiety, depression and quality of life values of both patients and their caregivers did not differ significantly from the normative samples. No statistically significant correlation between epilepsy duration and patients' and caregivers' psychological features was found. Patients which took more than one AED reported lower values of "Vitality" (p epilepsy may have an impact on the psychological state of adult patients with epilepsy and their caregivers, our results highlight the role of multidimensional determinants, including stigma. Further studies are needed to identify the factors related to epilepsy, patients, caregivers, treatments, and the environment that may be modifiable in order to improve self-perceived QoL. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Hughes syndrome and epilepsy: when to test for antiphospholipid antibodies?

    Science.gov (United States)

    Noureldine, M H A; Harifi, G; Berjawi, A; Haydar, A A; Nader, M; Elnawar, R; Sweid, A; Al Saleh, J; Khamashta, M A; Uthman, I

    2016-11-01

    Epilepsy and seizures are reported among the neurological manifestations of antiphospholipid syndrome (APS) at a prevalence rate of approximately 8%, which is nearly 10 times the prevalence of epilepsy in the general population. The association of seizures with antiphospholipid antibodies (aPL) is even more significant in the presence of systemic lupus erythematosus (SLE). In this review, we discuss the epidemiological, pathophysiological, laboratory, clinical, and radiological aspects of this association, and derive suggestions on when to consider testing for aPL in epileptic patients and how to manage seizures secondary to APS based on literature data. Epilepsy due to APS should be considered in young patients presenting with seizures of unknown origin. Temporal lobe epilepsy seems to be particularly prevalent in APS patients. The pathogenesis is complex and may not only involve micro-thrombosis, but also a possible immune-mediated neuronal damage. Patients with seizures and positive aPL tend to develop thrombocytopenia and livedo racemosa more frequently compared with those without aPL. Magnetic resonance imaging (MRI) remains the imaging modality of choice in these patients. The presence of SLE and the presence of neurological symptoms significantly correlate with the presence of white matter changes on MRI. In contrast, the correlation between aPL positivity and the presence of white matter changes is very weak. Furthermore, MRI can be normal in more than 30-40% of neuropsychiatric lupus patients with or without aPL. aPL testing is recommended in young patients presenting with atypical seizures and multiple hyper-intensity lesions on brain MRI in the absence of other possible conditions. New MRI techniques can better understand the pathology of brain damage in neuro-APS. The therapeutic management of epileptic APS patients relies on anti-epileptic treatment and anticoagulant agents when there is evidence of a thrombotic event. In the absence of consensual

  20. Fertility Treatment and Childhood Epilepsy - a Nationwide Cohort Study

    DEFF Research Database (Denmark)

    Kettner, Laura Ozer; Kesmodel, Ulrik Schiøler; Ramlau-Hansen, Cecilia Høst

    2017-01-01

    BACKGROUND: Fertility treatment includes hormonal stimulation of the woman and in vitro manipulation of gametes and embryos that may influence prenatal brain development. We aimed to investigate the association between fertility treatment and childhood epilepsy, including specific types of treatm......BACKGROUND: Fertility treatment includes hormonal stimulation of the woman and in vitro manipulation of gametes and embryos that may influence prenatal brain development. We aimed to investigate the association between fertility treatment and childhood epilepsy, including specific types...... of treatment and indications, as well as subtypes of epilepsy. METHODS: In this nationwide birth cohort study, we included all pregnancies in Denmark resulting in live-born singletons, 1995-2003. Children conceived by fertility treatment and children developing epilepsy (until 2013) were identified from Danish...... national registers. RESULTS: A total of 565,116 pregnancies were included; 8,071 children (1.4%) developed epilepsy. Children conceived after ovulation induction or intrauterine insemination had a slightly higher risk of childhood epilepsy (hazard ratio [HR]: 1.15; 95% confidence interval [CI]: 1.00, 1...

  1. Dimensions of the epilepsy foundation concerns index.

    Science.gov (United States)

    Loring, David W; Larrabee, Glenn J; Meador, Kimford J; Lee, Gregory P

    2005-05-01

    We performed principal component analysis (PCA) of the Epilepsy Foundation Concerns Index scale in 189 patients undergoing evaluation for epilepsy surgery. We identified a five-factor solution in which there were no varimax-rotated factors consisting of fewer than two questions. Factor 1 reflects affective impact on enjoyment of life, Factor 2 reflects general autonomy concerns, Factor 3 reflects fear of seizure recurrence, Factor 4 reflects concern of being a burden to one's family, and Factor 5 reflects a perceived lack of understanding by others. Multiple regression using the Quality of Life in Epilepsy--89 question version; Minnesota Multiphasic Personality Inventory--2; Wechsler Adult Intelligence Scale--third edition; and verbal and visual memory tests as predictors demonstrated a different pattern of association with the factor and summary scores. We conclude that the Epilepsy Foundation Concerns Index is multidimensional, and using a global score based on all items may mask specific concerns that may be relevant when applied to individual patients.

  2. The social competence and behavioral problem substrate of new- and recent-onset childhood epilepsy.

    Science.gov (United States)

    Almane, Dace; Jones, Jana E; Jackson, Daren C; Seidenberg, Michael; Hermann, Bruce P

    2014-02-01

    This study examined patterns of syndrome-specific problems in behavior and competence in children with new- or recent-onset epilepsy compared with healthy controls. Research participants consisted of 205 children aged 8-18, including youth with recent-onset epilepsy (n=125, 64 localization-related epilepsy [LRE] and 61 idiopathic generalized epilepsy [IGE]) and healthy first-degree cousin controls (n=80). Parents completed the Child Behavior Checklist for children aged 6-18 (CBCL/6-18) from the Achenbach System of Empirically Based Assessment (ASEBA). Dependent variables included Total Competence, Total Problems, Total Internalizing, Total Externalizing, and Other Problems scales. Comparisons of children with LRE and IGE with healthy controls were examined followed by comparisons of healthy controls with those having specific epilepsy syndromes of LRE (BECTS, Frontal/Temporal Lobe, and Focal NOS) and IGE (Absence, Juvenile Myoclonic, and IGE NOS). Children with LRE and/or IGE differed significantly (pcompetence (Total Competence including School and Social). Similarly, children with specific syndromes of LRE and IGE differed significantly (pcompetence (Total Competence including School). Only on the Thought Problems scale were there syndrome differences. In conclusion, children with recent-onset epilepsy present with significant behavioral problems and lower competence compared with controls, with little syndrome specificity whether defined broadly (LRE and IGE) or narrowly (specific syndromes of LRE and IGE). Copyright © 2013 Elsevier Inc. All rights reserved.

  3. Addressing the burden of epilepsy: Many unmet needs.

    Science.gov (United States)

    Beghi, Ettore

    2016-05-01

    Epilepsy is a heterogeneous clinical condition characterized by recurrent unprovoked seizures, their causes and complications. The incidence, prevalence and mortality of epilepsy vary with age, place and time contributing to a variable extent to the burden of the disease. Diagnostic misclassification may have strong impact on personal and societal reflections of the disease in light of its clinical manifestations and the need for chronic treatment. Epilepsy accounts for a significant proportion of the world's disease burden ranking fourth after tension-type headache, migraine and Alzheimer disease. Among neurological diseases, it accounts for the highest disability-adjusted life year rates both in men and in women. Although epilepsy is self-remitting in up to 50% of cases, variable long-term prognostic patterns can be identified based on the response to the available treatments. Epilepsy carries an overall increased risk of premature mortality with variable estimates across countries. Premature mortality predominates in patients aged less than 50 years, with epilepsies due to structural/metabolic conditions, with generalized tonic-clonic seizures, and seizures not remitting under treatment. Among deaths directly attributable to epilepsy or seizures, included are sudden unexpected death in epilepsy (SUDEP), status epilepticus, accidents, drowning, unintentional injuries, and suicide. Somatic and psychiatric disorders prevail in patients with epilepsy than in people without epilepsy. Asthma, migraine and cerebral tumors tend to occur more frequently in younger adults while cardiovascular disorders, stroke, dementia and meningioma predominate in the elderly. As being a fairly common clinical condition affecting all ages and requiring long-term (sometimes lifelong) treatment, epilepsy carries high health care costs for the society. Direct costs peak in the first year after diagnosis and then vary according to the severity of the disease, the response to treatment, and

  4. Copy number variation plays an important role in clinical epilepsy

    Science.gov (United States)

    Olson, Heather; Shen, Yiping; Avallone, Jennifer; Sheidley, Beth R.; Pinsky, Rebecca; Bergin, Ann M.; Berry, Gerard T.; Duffy, Frank H.; Eksioglu, Yaman; Harris, David J.; Hisama, Fuki M.; Ho, Eugenia; Irons, Mira; Jacobsen, Christina M.; James, Philip; Kothare, Sanjeev; Khwaja, Omar; Lipton, Jonathan; Loddenkemper, Tobias; Markowitz, Jennifer; Maski, Kiran; Megerian, J. Thomas; Neilan, Edward; Raffalli, Peter C.; Robbins, Michael; Roberts, Amy; Roe, Eugene; Rollins, Caitlin; Sahin, Mustafa; Sarco, Dean; Schonwald, Alison; Smith, Sharon E.; Soul, Janet; Stoler, Joan M.; Takeoka, Masanori; Tan, Wen-Han; Torres, Alcy R.; Tsai, Peter; Urion, David K.; Weissman, Laura; Wolff, Robert; Wu, Bai-Lin; Miller, David T.; Poduri, Annapurna

    2015-01-01

    Objective To evaluate the role of copy number abnormalities detectable by chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center. Methods We identified patients with ICD-9 codes for epilepsy or seizures and clinical CMA testing performed between October 2006 and February 2011 at Boston Children’s Hospital. We reviewed medical records and included patients meeting criteria for epilepsy. We phenotypically characterized patients with epilepsy-associated abnormalities on CMA. Results Of 973 patients who had CMA and ICD-9 codes for epilepsy or seizures, 805 patients satisfied criteria for epilepsy. We observed 437 copy number variants (CNVs) in 323 patients (1–4 per patient), including 185 (42%) deletions and 252 (58%) duplications. Forty (9%) were confirmed de novo, 186 (43%) were inherited, and parental data were unavailable for 211 (48%). Excluding full chromosome trisomies, CNV size ranged from 18 kb to 142 Mb, and 34% were over 500 kb. In at least 40 cases (5%), the epilepsy phenotype was explained by a CNV, including 29 patients with epilepsy-associated syndromes and 11 with likely disease-associated CNVs involving epilepsy genes or “hotspots.” We observed numerous recurrent CNVs including 10 involving loss or gain of Xp22.31, a region described in patients with and without epilepsy. Interpretation Copy number abnormalities play an important role in patients with epilepsy. Given that the diagnostic yield of CMA for epilepsy patients is similar to the yield in autism spectrum disorders and in prenatal diagnosis, for which published guidelines recommend testing with CMA, we recommend the implementation of CMA in the evaluation of unexplained epilepsy. PMID:24811917

  5. Etiologies of epilepsy and health-seeking itinerary of patients with epilepsy in a resource poor setting: analysis of 342 Nigerian Africans.

    Science.gov (United States)

    Ogunrin, Olubunmi A; Adeyekun, Ademola; Adudu, Philomena

    2013-09-01

    The understanding of causation of epilepsy, especially in resource poor African countries where prevalence rates are very high, would aid strategies for primary prevention. This study sought to determine the causes of epilepsy in Nigerian Africans and health-itinerary of patients with epilepsy. This was an observational, cross-sectional descriptive study of consecutive newly diagnosed adult patients with epilepsy using a mixed-methods approach of face-to-face in-depth interview of patients' parents and relations, health care personnel who had given medical attention at any time and telephone interview. A structured interview schedule was used to obtain demographic information, details of seizure variables, health seeking itinerary and history of previous hospitalizations. Data was analyzed descriptively with SPSS version 17. Three hundred and forty-two patients with epilepsy with a mean age of 31.4±11.98 years participated in the study. Most of the patients (68.1%; 233/342) were unemployed and students. There were 270 (78.9%) patients with generalized epilepsy. No identifiable etiology was found in 37.7%, but of the remaining 62.3%, the commonest causes included post traumatic (19.6%), recurrent childhood febrile convulsions (13.2%), post-stroke (6.7%), brain tumors (5.9%), neonatal jaundice (5.3%), birth-related asphyxia (5%) and history of previous CNS infections (4.7%). Family history of epilepsy was obtained in 9.9%, all of whom had primarily generalized seizures. 61.4% of them sought initial attention from the traditional healers or in prayer houses. This study showed the pattern of causes of epilepsy in Nigerian Africans. The health seeking behavior and itinerary of the PWE revealed a preference for traditional healers. There is need for health policies and epilepsy awareness campaigns to prevent causes of seizures and improve the knowledge of the public respectively. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights

  6. Cannabinoids for epilepsy.

    Science.gov (United States)

    Gloss, David; Vickrey, Barbara

    2014-03-05

    Marijuana appears to have anti-epileptic effects in animals. It is not currently known if it is effective in patients with epilepsy. Some states in the United States of America have explicitly approved its use for epilepsy. To assess the efficacy and safety of cannabinoids when used as monotherapy or add-on treatment for people with epilepsy. We searched the Cochrane Epilepsy Group Specialized Register (9 September 2013), Cochrane Central Register of Controlled Trials (CENTRAL) in The Cochrane Library (2013, Issue 8), MEDLINE (Ovid) (9 September 2013), ISI Web of Knowledge (9 September 2013), CINAHL (EBSCOhost) (9 September 2013), and ClinicalTrials.gov (9 September 2013). In addition, we included studies we personally knew about that were not found by the searches, as well as searched the references in the identified studies. Randomized controlled trials (RCTs) whether blinded or not. Two authors independently selected trials for inclusion and extracted the data. The primary outcome investigated was seizure freedom at one year or more, or three times the longest interseizure interval. Secondary outcomes included responder rate at six months or more, objective quality of life data, and adverse events. We found four randomized trial reports that included a total of 48 patients, each of which used cannabidiol as the treatment agent. One report was an abstract and another was a letter to the editor. Anti-epileptic drugs were continued in all studies. Details of randomisation were not included in any study report. There was no investigation of whether the control and treatment participant groups were the same or different. All the reports were low quality.The four reports only answered the secondary outcome about adverse effects. None of the patients in the treatment groups suffered adverse effects. No reliable conclusions can be drawn at present regarding the efficacy of cannabinoids as a treatment for epilepsy. The dose of 200 to 300 mg daily of cannabidiol was

  7. Epilepsy surgery in a liver-transplanted girl with temporal lobe epilepsy and hippocampal sclerosis following PRES with status epilepticus.

    Science.gov (United States)

    Dilena, Robertino; Nebbia, Gabriella; Fiorica, Lorenzo; Farallo, Marcello; Degrassi, Irene; Gozzo, Francesca; Pelliccia, Veronica; Barbieri, Sergio; Cossu, Massimo; Tassi, Laura

    2016-07-01

    Posterior reversible encephalopathy syndrome (PRES) with status epilepticus may occur after liver transplant. This may rarely lead to refractory epilepsy and hippocampal sclerosis (HS). We report the first case of epilepsy surgery in a liver-transplanted patient with refractory temporal lobe epilepsy. A 3-year-old girl underwent liver transplant for congenital biliary atresia. Four days after transplant she manifested PRES with status epilepticus, but she recovered within a couple of weeks. At the age of 5 years she started presenting complex partial seizures, that became refractory to antiepileptic drugs (AED), worsening psychosocial performances. The pre-surgical work-up identified a left HS and temporal pole alterations. A left antero-mesial temporal lobectomy was performed, leading to epilepsy remission and allowing AED withdrawal. Drug-resistant temporal lobe epilepsy and HS may occur as sequelae of PRES with status epilepticus related to liver transplant and cyclosporine use. In this setting early epilepsy surgery may reduce the time of chronic exposure to AED and severe illness due to repeated seizures. This option might have additional advantages in the subgroup of epileptic patients with liver transplant, preserving the liver from the potential damage due to multiple AED trials and their interaction with commonly used immunosuppressant drugs. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  8. Determining the relationship between sleep architecture, seizure variables and memory in patients with focal epilepsy.

    Science.gov (United States)

    Miller, Laurie A; Ricci, Monica; van Schalkwijk, Frank J; Mohamed, Armin; van der Werf, Ysbrand D

    2016-06-01

    Sleep has been shown to be important to memory. Both sleep and memory have been found to be abnormal in patients with epilepsy. In this study, we explored the effects that nocturnal epileptiform discharges and the presence of a hippocampal lesion have on sleep patterns and memory. Twenty-five patients with focal epilepsy who underwent a 24-hr ambulatory EEG also completed the Everyday Memory Questionnaire (EMQ). The EEG record was scored for length of time spent in the various sleep stages, time spent awake after sleep onset, and rapid eye movement (REM) latency. Of these sleep variables, only REM latency differed when the epilepsy patients were divided on the bases of either presence/absence of nocturnal discharges or presence/absence of a hippocampal lesion. In both cases, presence of the abnormality was associated with longer latency. Furthermore, longer REM latency was found to be a better predictor of EMQ score than either number of discharges or presence of a hippocampal lesion. Longer REM latency was associated with a smaller percentage of time spent in slow-wave sleep in the early part of the night and may serve as a particularly sensitive marker to disturbances in sleep architecture. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  9. Risk factors for fatigue in patients with epilepsy.

    Science.gov (United States)

    Yan, Song; Wu, Yuanbin; Deng, Yanchun; Liu, Yonghong; Zhao, Jingjing; Ma, Lei

    2016-11-01

    Fatigue is highly prevalent in patients with epilepsy and has a major impact on quality of life, but little data is available on its effects and management in epilepsy. To identify the incidence and risk factors of fatigue in patients with epilepsy, 105 epilepsy patients (45 women and 60 men) were enrolled in our study. Demographic and clinical data were collected and psychological variables including fatigue, sleep quality, excess daytime sleepiness, anxiety, and depression were measured by Fatigue Severity Scale, Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, and Hospital Anxiety and Depression Scale, respectively. Of 105 patients, 29.5% exhibited fatigue (FSS score ⩾4). We found no correlation between the occurrence of fatigue and any of our demographic or clinical variables. Fatigue is correlated with low sleep quality, anxiety, and depression, but not with excess daytime sleepiness. Thus, we concluded that fatigue is highly prevalent in patients with epilepsy, and that low sleep quality, anxiety, and depression are significantly correlated with fatigue in epileptics, while excess daytime sleepiness not. Copyright © 2016. Published by Elsevier Ltd.

  10. WONOEP appraisal: Development of epilepsy biomarkers-What we can learn from our patients?

    Science.gov (United States)

    Jozwiak, Sergiusz; Becker, Albert; Cepeda, Carlos; Engel, Jerome; Gnatkovsky, Vadym; Huberfeld, Gilles; Kaya, Mehmet; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A

    2017-06-01

    Current medications for patients with epilepsy work in only two of three patients. For those medications that do work, they only suppress seizures. They treat the symptoms, but do not modify the underlying disease, forcing patients to take these drugs with significant side effects, often for the rest of their lives. A major limitation in our ability to advance new therapeutics that permanently prevent, reduce the frequency of, or cure epilepsy comes from a lack of understanding of the disease coupled with a lack of reliable biomarkers that can predict who has or who will get epilepsy. The main goal of this report is to present a number of approaches for identifying reliable biomarkers from observing patients with brain disorders that have a high probability of producing epilepsy. A given biomarker, or more likely a profile of biomarkers, will have both a quantity and a time course during epileptogenesis that can be used to predict who will get the disease, to confirm epilepsy as a diagnosis, to identify coexisting pathologies, and to monitor the course of treatments. Additional studies in patients and animal models could identify common and clinically valuable biomarkers to successfully translate animal studies into new and effective clinical trials. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  11. Ego functions in epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Høgenhaven, H

    1988-01-01

    Two groups of epilepsy patients (28 patients with temporal lobe epilepsy and 15 patients with primary generalized epilepsy) entered a study of personality traits related to epilepsy, based on a modification of Bellak's semistructured interview for assessment of ego strength. Two groups of subjects...... than 15 years when the disease began. The number of anticonvulsants administered did not influence the results. No difference on adaptive level of ego functioning was found between the group with primary generalized epilepsy and the group with temporal lobe epilepsy. Similarly, the temporal lobe...... served as controls: 15 patients with a non-neurological but relapsing disorder, psoriasis, and 15 healthy volunteers. Compared with the group of healthy volunteers, a decreased adaptive level of ego functioning was found in the epilepsy groups, regardless of seizure types and EEG findings, and...

  12. Epilepsy and Pregnancy: For healthy pregnancies and happy outcomes. Suggestions for service improvements from the Multispecialty UK Epilepsy Mortality Group.

    Science.gov (United States)

    Leach, J P; Smith, P E; Craig, J; Bagary, M; Cavanagh, D; Duncan, S; Kelso, A R C; Marson, A G; McCorry, D; Nashef, L; Nelson-Piercy, C; Northridge, R; Sieradzan, K; Thangaratinam, S; Walker, M; Winterbottom, J; Reuber, M

    2017-08-01

    Between 2009 and 2012 there were 26 epilepsy-related deaths in the UK of women who were pregnant or in the first post-partum year. The number of pregnancy-related deaths in women with epilepsy (WWE) has been increasing. Expert assessment suggests that most epilepsy-related deaths in pregnancy were preventable and attributable to poor seizure control. While prevention of seizures during pregnancy is important, a balance must be struck between seizure control and the teratogenic potential of antiepileptic drugs (AEDs). A range of professional guidance on the management of epilepsy in pregnancy has previously been issued, but little attention has been paid to how optimal care can be delivered to WWE by a range of healthcare professionals. We summarise the findings of a multidisciplinary meeting with representation from a wide group of professional bodies. This focussed on the implementation of optimal pregnancy epilepsy care aiming to reduce mortality of epilepsy in mothers and reduce morbidity in babies exposed to AEDs in utero. We identify in particular -What stage to intervene - Golden Moments of opportunities for improving outcomes -Which Key Groups have a role in making change -When - 2020 vision of what these improvements aim to achieve. -How to monitor the success in this field We believe that the service improvement ideas developed for the UK may provide a template for similar initiatives in other countries. Copyright © 2017 British Epilepsy Association. All rights reserved.

  13. Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation.

    Science.gov (United States)

    Kesim, Yesim F; Uzun, Gunes Altiokka; Yucesan, Emrah; Tuncer, Feyza N; Ozdemir, Ozkan; Bebek, Nerses; Ozbek, Ugur; Iseri, Sibel A Ugur; Baykan, Betul

    2016-02-01

    Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is an autosomal dominant epileptic syndrome characterized by focal seizures with auditory or aphasic symptoms. The same phenotype is also observed in a sporadic form of lateral temporal lobe epilepsy (LTLE), namely idiopathic partial epilepsy with auditory features (IPEAF). Heterozygous mutations in LGI1 account for up to 50% of ADLTE families and only rarely observed in IPEAF cases. In this study, we analysed a cohort of 26 individuals with LTLE diagnosed according to the following criteria: focal epilepsy with auditory aura and absence of cerebral lesions on brain MRI. All patients underwent clinical, neuroradiological and electroencephalography examinations and afterwards they were screened for mutations in LGI1 gene. The single LGI1 mutation identified in this study is a novel missense variant (NM_005097.2: c.1013T>C; p.Phe338Ser) observed de novo in a sporadic patient. This is the first study involving clinical analysis of a LTLE cohort from Turkey and genetic contribution of LGI1 to ADLTE phenotype. Identification of rare LGI1 gene mutations in sporadic cases supports diagnosis as ADTLE and draws attention to potential familial clustering of ADTLE in suggestive generations, which is especially important for genetic counselling. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. A prospective observational longitudinal study of new-onset seizures and newly diagnosed epilepsy in dogs

    DEFF Research Database (Denmark)

    Fredsø, N; Toft, Nils; Sabers, A.

    2017-01-01

    Seizures are common in dogs and can be caused by non-epileptic conditions or epilepsy. The clinical course of newly diagnosed epilepsy is sparsely documented. The objective of this study was to prospectively investigate causes for seizures (epileptic and non-epileptic) in a cohort of dogs with new...... structural epilepsy. A non-epileptic cause for seizures was identified in 13 dogs and suspected in 10 dogs. Four dogs in which no cause for seizures was identified experienced only one seizure during the study. In dogs with idiopathic epilepsy 60% had their second epileptic seizure within three months...... seizures motivated early treatment. In a few dogs with a high seizure frequency owners declined treatment against the investigators advice. Epilepsy is the most likely diagnosis in dogs presenting with new-onset seizures. The course of idiopathic epilepsy is highly individual and might not necessarily...

  15. Christianity and epilepsy.

    Science.gov (United States)

    Owczarek, K; Jędrzejczak, J

    2013-01-01

    Epileptic seizures have been known from time immemorial. Throughout the ages, however, ideas concerning the aetiology and treatment of epilepsy have changed considerably. Epilepsy is mentioned many times in the Pentateuch, where it is portrayed as a mysterious condition, whose symptoms, course and contingencies evade rational laws and explanations. In the Middle Ages, the accepted view which prevailed in social consciousness was that patients with epilepsy were possessed by Satan and other impure spirits. One common method of treatment of epileptic seizures was to submit the patient to cruel exorcisms. Patients were frequently injured in the process and some of them even died. Our understanding of epilepsy and its social consequences has improved considerably within the last century. The most significant progress as far as diagnosis and treatment of epilepsy is concerned took place in the last four decades of the twentieth century. Although we now know much more about epilepsy than we used to, this knowledge is still insufficiently popularized.

  16. Juvenile myoclonic epilepsy as a spectrum disorder: A focused review.

    Science.gov (United States)

    Baykan, Betül; Wolf, Peter

    2017-07-01

    In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype. Focal features may in some patients be seen in clinical seizures or the EEG but rarely in both. They have no morphological correlates. In a system epilepsy, local manifestations are possible, and some are due to reflex mechanisms. Of the four reflex epileptic traits common in JME, photosensitivity and praxis induction appear related to basic mechanisms of the core syndrome, whereas language-induced orofacial reflex myocloni and eye closure sensitivity are also seen in other clinical contexts and therefore seem to represent endophenotypes. Cognitive abnormalities indicating slight frontal lobe dysfunction seem to be ubiquitous in JME and are also seen in unaffected siblings of patients. Cluster B personality disorder is found in 1/3 of patients, representing a more severe expression of the underlying pathology. Treatment response and prognosis seem to be affected by an interplay of the described factors producing the severest end of the JME spectrum. The spectrum appears to be due to an interaction of stronger or weaker expression of the core phenotype with various endophenotypes. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  17. [Current management of epilepsy].

    Science.gov (United States)

    Mizobuchi, Masahiro

    2013-09-01

    Epilepsy is one of the most common neurological disorders. Global neurological knowledge is essential for differential diagnosis of epileptic syndromes due to the diversity of ictal semiology, causes and syndromes. Neurologists play an important role in planning the medical care for patients with epilepsy, as medication is the most fundamental therapeutic strategy. Some patients with early-onset epilepsy require joint care by pediatric neurologists, those with intractable epilepsy by neurosurgeons, and those with psychological comorbidity by psychiatrists, and neurologists should play a coordinating role. While there is a great need for neurologists to participate in epilepsy care, neurologists in Japan currently do not participate substantially in the epilepsy management system. It is necessary to train more neurologists who can provide epilepsy care and conduct basic and clinical research on epilepsy by providing continuous education on epilepsy for general neurologists as well as pre- and post-graduate medical students. Most of the patients who require long-term treatment experience many medical problems and social handicaps, such as adverse effects of medication, social stigma, educational disadvantages and difficulties in obtaining driver's license. To improve the quality of life of patients with epilepsy, it is desirable to build broad medical-social networks participated by patients, doctors, neurological nurses, psychologists, social workers, school teachers, managers of employment support facilities and care givers.

  18. The α2δ subunit and absence epilepsy: Beyond calcium channels?

    NARCIS (Netherlands)

    Celli, R.; Santolini, I.; Guiducci, M.; Luijtelaar, E.L.J.M. van; Parisi, P.; Striano, P.; Gradini, R.; Battaglia, G.; Ngomba, R.T.; Nicoletti, F.

    2017-01-01

    Spike-wave discharges, underlying absence seizures, are generated within a cortico-thalamo-cortical network that involves the somatosensory cortex, the reticular thalamic nucleus, and the ventrobasal thalamic nuclei. Activation of T-type voltage-sensitive calcium channels (VSCCs) contributes to the

  19. Injuries in epilepsy: a review of its prevalence, risk factors, type of injuries and prevention

    Directory of Open Access Journals (Sweden)

    Jose Tellez-Zenteno

    2009-12-01

    Full Text Available Currently, there is intense clinical research into various aspects of the medical risks relating to epilepsy, including total and cause-specific mortality, accidents and injuries in patients with epilepsy and mortality related with seizures. Seizures occurring in precarious situations and resulting in injuries are still an important concern for patients with epilepsy, their employers and their caregivers. Submersion injuries, motor vehicle accidents, burns, and head injuries are among the most feared epilepsy-related injuries. These concerns seem valid because the hallmark of epilepsy, episodic impairment of consciousness and motor control, may occur during interictal EEG epileptiform discharges, even in the absence of a clinical seizure. In addition, psychomotor comorbidity and side effects of antiepileptic drugs may contribute to the risk of injuries in patients with epilepsy. Published risk factors for injuries include the number of antiepileptic drugs, history of generalized seizures, and seizure frequency. In general, epidemiological information about incidence of injuries has been conflicting and sparse. In general, studies focusing on populations with more severe forms of epilepsy tend to report substantially higher risks of injuries than those involving less selected populations. On the other hand, studies based on non-selected populations of people with epilepsy have not shown an increased frequency of injuries in people with epilepsy compared with the general population. Some studies have shown that patients with epilepsy are more frequently admitted to the hospital following an injury. Possible explanations include: more cautious attitude of clinicians toward injuries occurring in the setting of seizures; hospitalization required because of seizures and not to the injuries themselves; and hospitalization driven by other issues, such as comorbidities, which are highly prevalent in patients with epilepsy. Potentially the high rate of

  20. Epilepsy after stroke

    DEFF Research Database (Denmark)

    Olsen, T S; Høgenhaven, H; Thage, O

    1987-01-01

    Development of epilepsy was studied prospectively in a group of 77 consecutive stroke patients. Included were stroke patients less than 75 years old admitted within the first 3 days after the stroke. Excluded were patients with subarachnoid hemorrhage, vertebrobasilar stroke, and patients...... with other severe diseases. Cerebral angiography, CT, and EEG were performed in all patients. The patients were followed clinically for 2 to 4 years. Seven patients (9%) developed epilepsy. Of 23 patients with lesions involving the cortex, 6 (26%) developed epilepsy. Of 54 patients in whom the cortex...... was not involved, only 1 (2%) developed epilepsy. Patients with persisting paresis and cortical involvement seem to be at particularly high risk of developing epilepsy, as 50% of such patients (6 of 12) developed the disease....

  1. Epilepsy and Mood Disorders

    Directory of Open Access Journals (Sweden)

    Sermin Kesebir

    2012-03-01

    Full Text Available Mood disorders are the most common psychiatric comorbid disorder that affects quality of life and prognosis in epilepsy. The relation between depression and epilepsy is bidirectional. Not only the risk of having a depression among epilepsy cases is more than the healthy control cases, but also the risk of having epilepsy among depressive cases is more than the healthy control cases. People diagnosed with epilepsy are five times more likely than their peers to commit suicide. Moreover it seems that some epilepsy types like temporal lobe epilepsy have a much higher risk (25 times for suicide. Risk of suicide in epilepsy, which is independent from depression, increases more with the presence of depression. The common pathway between epilepsy, depression and suicide is hypofrontality and irregularity of serotonin metabolism. Contrary to depression, data on relationship between bipolar disorder and epilepsy is limited. However, mood disorder, mixed episodes with irritable character and mania are more frequent than assumed. As a matter of fact, both disorders share some common features. Both are episodic and can become chronic. Kindling phenomenon, irregularities in neurotransmitters, irregularities in voltage gate ion channels and irregularities in secondary messenger systems are variables that are presented in the etiologies of both disorders. Anticonvulsant drugs with mood regulatory effects are the common points of treatment. Understanding their mechanisms of action will clarify the pathophysiological processes. In this article, the relationhip between epilepsy and mood disorders, comorbidity, secondary states and treatment options in both cases have been discussed.

  2. Epilepsy treatment. Targeting LDH enzymes with a stiripentol analog to treat epilepsy.

    Science.gov (United States)

    Sada, Nagisa; Lee, Suni; Katsu, Takashi; Otsuki, Takemi; Inoue, Tsuyoshi

    2015-03-20

    Neuronal excitation is regulated by energy metabolism, and drug-resistant epilepsy can be suppressed by special diets. Here, we report that seizures and epileptiform activity are reduced by inhibition of the metabolic pathway via lactate dehydrogenase (LDH), a component of the astrocyte-neuron lactate shuttle. Inhibition of the enzyme LDH hyperpolarized neurons, which was reversed by the downstream metabolite pyruvate. LDH inhibition also suppressed seizures in vivo in a mouse model of epilepsy. We further found that stiripentol, a clinically used antiepileptic drug, is an LDH inhibitor. By modifying its chemical structure, we identified a previously unknown LDH inhibitor, which potently suppressed seizures in vivo. We conclude that LDH inhibitors are a promising new group of antiepileptic drugs. Copyright © 2015, American Association for the Advancement of Science.

  3. Semiquantitative analysis of interictal glucose metabolism between generalized epilepsy and localization related epilepsy

    International Nuclear Information System (INIS)

    Hikima, Akio; Mochizuki, Hiroyuki; Oriuchi, Noboru; Endo, Keigo; Morikawa, Akihiro

    2004-01-01

    Positron emission tomography (PET) with [ 18 F]fluoro-D-deoxyglucose (FDG) has been used to detect seizure foci and evaluate surgical resection with localization related epilepsies. However, few investigations have focused on generalized epilepsy in children. To reveal the pathophysiology of generalized epilepsy, we studied 11 patients with generalized epilepsy except West syndrome, and 11 patients with localization related epilepsy without organic disease. The FDG PET was performed by simultaneous emission and transmission scanning. We placed regions of interest (ROI) on bilateral frontal lobe, parietal lobe, occipital lobe, temporal lobe, basal ganglia, thalamus and cerebellum. Standardized uptake value (SUV) was measured and normalized to SUV of ipsilateral cerebellum. Then, we compared the data of generalized epilepsy to those of localization related epilepsy. FDG PET revealed significant interictal glucose hypometabolism in bilateral basal ganglia in generalized epilepsy compared to that in localization related epilepsy (right side: p=0.0095, left side: p=0.0256, Mann-Whitney test). No other region showed any significant difference (p>0.05) between the two groups. These findings indicate that the basal ganglia is involved in the outbreak of generalized seizures or is affected secondarily by the epileptogenicity itself. (author)

  4. Structural imaging biomarkers of sudden unexpected death in epilepsy.

    Science.gov (United States)

    Wandschneider, Britta; Koepp, Matthias; Scott, Catherine; Micallef, Caroline; Balestrini, Simona; Sisodiya, Sanjay M; Thom, Maria; Harper, Ronald M; Sander, Josemir W; Vos, Sjoerd B; Duncan, John S; Lhatoo, Samden; Diehl, Beate

    2015-10-01

    Sudden unexpected death in epilepsy is a major cause of premature death in people with epilepsy. We aimed to assess whether structural changes potentially attributable to sudden death pathogenesis were present on magnetic resonance imaging in people who subsequently died of sudden unexpected death in epilepsy. In a retrospective, voxel-based analysis of T1 volume scans, we compared grey matter volumes in 12 cases of sudden unexpected death in epilepsy (two definite, 10 probable; eight males), acquired 2 years [median, interquartile range (IQR) 2.8] before death [median (IQR) age at scanning 33.5 (22) years], with 34 people at high risk [age 30.5 (12); 19 males], 19 at low risk [age 30 (7.5); 12 males] of sudden death, and 15 healthy controls [age 37 (16); seven males]. At-risk subjects were defined based on risk factors of sudden unexpected death in epilepsy identified in a recent combined risk factor analysis. We identified increased grey matter volume in the right anterior hippocampus/amygdala and parahippocampus in sudden death cases and people at high risk, when compared to those at low risk and controls. Compared to controls, posterior thalamic grey matter volume, an area mediating oxygen regulation, was reduced in cases of sudden unexpected death in epilepsy and subjects at high risk. The extent of reduction correlated with disease duration in all subjects with epilepsy. Increased amygdalo-hippocampal grey matter volume with right-sided changes is consistent with histo-pathological findings reported in sudden infant death syndrome. We speculate that the right-sided predominance reflects asymmetric central influences on autonomic outflow, contributing to cardiac arrhythmia. Pulvinar damage may impair hypoxia regulation. The imaging findings in sudden unexpected death in epilepsy and people at high risk may be useful as a biomarker for risk-stratification in future studies. The Author (2015). Published by Oxford University Press on behalf of the Guarantors of

  5. Pattern of executive functioning in adolescents with epilepsy: A multimethod measurement approach.

    Science.gov (United States)

    Modi, Avani C; Vannest, Jennifer; Combs, Angela; Turnier, Luke; Wade, Shari L

    2018-03-01

    Youth with epilepsy demonstrate deficits in executive functioning (EF), the skills necessary for goal-directed behavior (e.g., problem-solving, initiating, monitoring, organization, planning, and working memory). Despite 30-50% of youth with epilepsy demonstrating EF deficits, no extant studies have utilized both performance and questionnaire-based measures to examine the pattern of EF deficits in adolescents with epilepsy. Study aims were to 1) identify the pattern of EF deficits in adolescents with epilepsy and 2) identify which assessment tools are most sensitive to EF deficits in this population (adolescents, ages 13-17, with epilepsy). An exploratory aim was to examine group differences on measures of EF by epilepsy type. Standard performance-based neuropsychological measures (Wechsler Intelligence Scale for Children - Version V or Wechsler Adult Intelligence Scale Working Memory Index-Version IV, Delis Kaplan Executive Functioning System, NIH Toolbox, Test of Everyday Attention for Children) and the Behavior Rating Inventory of Executive Functioning (BRIEF) comprised the multimethod assessment battery. Depending on the measure, 30% of adolescents with epilepsy had deficits in working memory, 17% in cognitive flexibility/problem solving, 6% in inhibition, and 18% in planning/organization. Attention was a significant problem for 15% of adolescents with epilepsy. Correlations among the various EF measures were quite poor. Across various EF domains, results indicated that adolescents with localization-related epilepsy demonstrated better EF skills compared to adolescents with unclassified epilepsy. Overall, our findings suggest that executive functioning deficits are selective and different from those observed in other neurological populations (e.g., attention deficit hyperactivity disorder (ADHD), traumatic brain injury) where problems with self-regulation (i.e., inhibition, planning/organization) are more pronounced. These findings support utilizing multiple

  6. [Epilepsy: incidens, prevalens and causes].

    Science.gov (United States)

    Forsgren, Lars; Sundelin, Heléne; Sveinsson, Olafur

    2018-05-21

    Epilepsy affects people in all ages with the highest incidence in small children, particularly before age one year, and in elderly aged 65 years and older. In Sweden, between 4500-5000 persons develop epilepsy annually. Based on studies from North America and Europe, including the Nordic countries, the number of people with active epilepsy in Sweden is between 60000-70000. The lifetime risk for epilepsy up to age 85 years is 4-5 %, i.e. approximately every 25th person. The new epilepsy classification divides etiology into the following groups: structural, genetic, infectious, metabolic, immune and unknown. The majority (70%) of people with epilepsy eventually become seizure free. Epilepsy increases the risk of psychosocial problems and accidents. People with epilepsy have up to a 3-fold increase in mortality, mainly due to the underlying causes and epilepsy related deaths, e.g. status epilepticus, SUDEP and accidents. Somatic, psychiatric and neuropsychiatric comorbidities are common in epilepsy.

  7. Different expressions of high voltage-activated Ca2+ channel types in the rostral reticular thalamic nucleus of the absence epileptic WAG/Rij rat.

    NARCIS (Netherlands)

    Bovenkamp-Janssen, M.C. van de; Scheenen, W.J.J.M.; Kuijpers-Kwant, F.J.; Kozicz, L.T.; Veening, J.G.; Luijtelaar, E.L.J.M. van; McEnery, M.W.; Roubos, E.W.

    2004-01-01

    In the WAG/Rij rat, a model for human absence epilepsy, spike-wave discharges (SWD) and absence epileptic behavior develop after the age of 3 months. The rostral part of the reticular thalamic nucleus (rRTN) is involved in SWD. Ca(2+) channels play a central role in the initiation and maintenance of

  8. Surgical Treatment of Nonlesional Neocortical Epilepsy: Long-term Longitudinal Study.

    Science.gov (United States)

    Kim, Dong Wook; Lee, Sang Kun; Moon, Hye-Jin; Jung, Ki-Young; Chu, Kon; Chung, Chun-Ki

    2017-03-01

    The proportion of surgery for nonlesional neocortical epilepsy has recently increased, with a decrease in surgery for mesial temporal lobe epilepsy. However, there are only a few studies regarding the long-term surgical outcome and the potential prognostic factors for patients with nonlesional neocortical epilepsy. To evaluate the long-term surgical outcome and to identify possible prognostic factors in patients with nonlesional neocortical epilepsy. In a surgical cohort from September 1995 to December 2005 at the Seoul National University Hospital, we included 109 consecutive patients without lesions identifiable by magnetic resonance imaging who underwent focal surgical resection for drug-resistant neocortical epilepsy. Follow-up information for at least 10 years was available for all but 1 patient. Univariate and standard multiple logistic regression analyses were performed to identify the predictors of surgical outcomes, and a generalized estimation equation model was used for the longitudinal multiple logistic regression analysis of up to 21 years of follow-up. The patients consisted of 64 men and 45 women with ages at surgery ranging from 7 to 56 years (mean [SD], 27.1 [7.8] years). At 1 year after surgery, 59 of 109 patients (54.1%) achieved seizure freedom, and 64 of 108 patients (59.3%) achieved seizure freedom at the last follow-up. Only 11 of 108 patients (10.2%) experienced definite changes in postoperative seizure status. Localizing patterns in functional neuroimaging (strongest odds ratio [OR], 0.30 [95% CI, 0.14-0.66] for fluorodeoxyglucose-positron emission tomography; 0.37 [95% CI, 0.15-0.87] for ictal single-photon emission computed tomography), concordant results in presurgical diagnostic evaluations (OR, 3.15 [95% CI, 1.42-7.02]), the presence of aura (OR, 3.49 [95% CI, 1.54-7.92]), and complete resection of areas of ictal onset with frequent interictal spikes during the intracranial electroencephalographic study (OR, 0.37 [95% CI, 0

  9. Epilepsy - children

    Science.gov (United States)

    ... the one before it. Some children have a strange sensation before a seizure. Sensations may be tingling, ... Prognosis) Most children with epilepsy live a normal life. Certain types of childhood epilepsy go away or ...

  10. A targeted resequencing gene panel for focal epilepsy.

    Science.gov (United States)

    Hildebrand, Michael S; Myers, Candace T; Carvill, Gemma L; Regan, Brigid M; Damiano, John A; Mullen, Saul A; Newton, Mark R; Nair, Umesh; Gazina, Elena V; Milligan, Carol J; Reid, Christopher A; Petrou, Steven; Scheffer, Ingrid E; Berkovic, Samuel F; Mefford, Heather C

    2016-04-26

    We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of the epilepsies. The targeted resequencing gene panel was designed using molecular inversion probe (MIP) capture technology and sequenced using massively parallel Illumina sequencing. We demonstrated proof of principle that mutations can be detected in 4 previously genotyped focal epilepsy cases. We searched for both germline and somatic mutations in 251 patients with unsolved sporadic or familial focal epilepsy and identified 11 novel or very rare missense variants in 5 different genes: CHRNA4, GRIN2B, KCNT1, PCDH19, and SCN1A. Of these, 2 were predicted to be pathogenic or likely pathogenic, explaining ∼0.8% of the cohort, and 8 were of uncertain significance based on available data. We have developed and validated a targeted resequencing panel for focal epilepsies, the most important clinical class of epilepsies, accounting for about 60% of all cases. Our application of MIP technology is an innovative approach that will be advantageous in the clinical setting because it is highly sensitive, efficient, and cost-effective for screening large patient cohorts. Our findings indicate that mutations in known genes likely explain only a small proportion of focal epilepsy cases. This is not surprising given the established clinical and genetic heterogeneity of these disorders and underscores the importance of further gene discovery studies in this complex syndrome. © 2016 American Academy of Neurology.

  11. Increasing Epilepsy Awareness in Schools: A Seizure Smart Schools Project

    Science.gov (United States)

    Brook, Heather A.; Hiltz, Cynthia M.; Kopplin, Vicki L.; Lindeke, Linda L.

    2015-01-01

    A high prevalence of epilepsy diagnoses and seizure events among students was identified at a large Midwestern school district. In partnership with the Epilepsy Foundation of Minnesota (EFMN), a quality improvement project was conducted to provide education and resources to staff caring for school children with seizures. School nurses (N = 26)…

  12. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

    Science.gov (United States)

    Falace, Antonio; Filipello, Fabia; La Padula, Veronica; Vanni, Nicola; Madia, Francesca; De Pietri Tonelli, Davide; de Falco, Fabrizio A; Striano, Pasquale; Dagna Bricarelli, Franca; Minetti, Carlo; Benfenati, Fabio; Fassio, Anna; Zara, Federico

    2010-09-10

    Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. We previously described a large family with a recessive form of idiopathic epilepsy, named familial infantile myoclonic epilepsy (FIME), and mapped the disease locus on chromosome 16p13.3 by linkage analysis. In the present study, we found that two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for FIME. In situ hybridization analysis revealed that Tbc1d24 is mainly expressed at the level of the cerebral cortex and the hippocampus. By coimmunoprecipitation assay we found that TBC1D24 binds ARF6, a Ras-related family of small GTPases regulating exo-endocytosis dynamics. The main recognized function of ARF6 in the nervous system is the regulation of dendritic branching, spine formation, and axonal extension. TBC1D24 overexpression resulted in a significant increase in neurite length and arborization and the FIME mutations significantly reverted this phenotype. In this study we identified a gene mutation involved in autosomal-recessive idiopathic epilepsy, unveiled the involvement of ARF6-dependent molecular pathway in brain hyperexcitability and seizures, and confirmed the emerging role of subtle cytoarchitectural alterations in the etiology of this group of common epileptic disorders. 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  13. Epilepsy and adverse quality of life in surgically resected meningioma.

    Science.gov (United States)

    Tanti, M J; Marson, A G; Jenkinson, M D

    2017-09-01

    Meningiomas are common intracranial tumors, and despite surgery or therapy with anti-epileptic drugs (AEDs), many patients suffer from seizures. Epilepsy has a significant impact on quality of life (QoL) in non-tumor populations, but the impact of epilepsy on QoL in patients with meningioma is unknown. Our aim was to evaluate the impact of epilepsy on QoL in patients that have undergone resection of a benign meningioma. We recruited meningioma patients without epilepsy (n=109), meningioma patients with epilepsy (n=56), and epilepsy patients without meningioma (n=64). QoL was measured with the Short Form 36 version 2 (SF-36), the Functional Assessment of Cancer Therapy (FACT-BR), and the Liverpool Adverse Events Profile (LAEP). Regression analyses identified significant determinants of QoL. Patients with meningioma and epilepsy had poorer QoL scores than meningioma patients without epilepsy in all measures. In FACT-BR, this difference was significant. Multiple regression analyses demonstrated that current AED use had a greater impact on QoL scores than recent seizures. Other variables associated with impaired QoL included depression, unemployment, and meningioma attributed symptoms. Epilepsy has a negative impact on quality of life in patients with benign meningioma. AED use is correlated with impaired QoL and raised LAEP scores, suggesting that AEDs and adverse effects may have led to impaired QoL in our meningioma patients with epilepsy. The severity of epilepsy in our meningioma population was comparatively mild; therefore, a more conservative approach to AED therapy may be indicated in an attempt to minimize adverse effects. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. The borderland of migraine and epilepsy in children.

    Science.gov (United States)

    Rajapakse, Thilinie; Buchhalter, Jeffrey

    2016-06-01

    gains in understanding, improved classification methods are required to identify and further study these interrelated conditions and move towards improved diagnosis and treatment of disorders on the migraine-epilepsy continuum in children. © 2016 American Headache Society.

  15. Development and validation of an algorithm for identifying urinary retention in a cohort of patients with epilepsy in a large US administrative claims database.

    Science.gov (United States)

    Quinlan, Scott C; Cheng, Wendy Y; Ishihara, Lianna; Irizarry, Michael C; Holick, Crystal N; Duh, Mei Sheng

    2016-04-01

    The aim of this study was to develop and validate an insurance claims-based algorithm for identifying urinary retention (UR) in epilepsy patients receiving antiepileptic drugs to facilitate safety monitoring. Data from the HealthCore Integrated Research Database(SM) in 2008-2011 (retrospective) and 2012-2013 (prospective) were used to identify epilepsy patients with UR. During the retrospective phase, three algorithms identified potential UR: (i) UR diagnosis code with a catheterization procedure code; (ii) UR diagnosis code alone; or (iii) diagnosis with UR-related symptoms. Medical records for 50 randomly selected patients satisfying ≥1 algorithm were reviewed by urologists to ascertain UR status. Positive predictive value (PPV) and 95% confidence intervals (CI) were calculated for the three component algorithms and the overall algorithm (defined as satisfying ≥1 component algorithms). Algorithms were refined using urologist review notes. In the prospective phase, the UR algorithm was refined using medical records for an additional 150 cases. In the retrospective phase, the PPV of the overall algorithm was 72.0% (95%CI: 57.5-83.8%). Algorithm 3 performed poorly and was dropped. Algorithm 1 was unchanged; urinary incontinence and cystitis were added as exclusionary diagnoses to Algorithm 2. The PPV for the modified overall algorithm was 89.2% (74.6-97.0%). In the prospective phase, the PPV for the modified overall algorithm was 76.0% (68.4-82.6%). Upon adding overactive bladder, nocturia and urinary frequency as exclusionary diagnoses, the PPV for the final overall algorithm was 81.9% (73.7-88.4%). The current UR algorithm yielded a PPV > 80% and could be used for more accurate identification of UR among epilepsy patients in a large claims database. Copyright © 2016 John Wiley & Sons, Ltd.

  16. Post-epilepsy stroke: A review.

    Science.gov (United States)

    Jin, Jing; Chen, Rong; Xiao, Zheng

    2016-01-01

    Stroke and epilepsy are two of the most common neurological disorders and share a complicated relationship. It is well established that stroke is one of the most important causes of epilepsy, particularly new-onset epilepsy among the elderly. However, post-epilepsy stroke has been overlooked. In recent years, it has been demonstrated that epilepsy patients have increased risk and mortality from stroke when compared with the general population. Additionally, it was proposed that post-epilepsy stroke might be associated with antiepileptic drugs (AEDs), epileptic seizures and the lifestyle of epileptic patients. Here, we comprehensively review the epidemiology, causes and interventions for post-epilepsy stroke.

  17. Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

    Directory of Open Access Journals (Sweden)

    Laura Ortega-Moreno

    Full Text Available Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel. Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5% analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1. Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.

  18. Infections, inflammation and epilepsy

    Science.gov (United States)

    Vezzani, Annamaria; Fujinami, Robert S.; White, H. Steve; Preux, Pierre-Marie; Blümcke, Ingmar; Sander, Josemir W.; Löscher, Wolfgang

    2016-01-01

    Epilepsy is the tendency to have unprovoked epileptic seizures. Anything causing structural or functional derangement of brain physiology may lead to seizures, and different conditions may express themselves solely by recurrent seizures and thus be labelled “epilepsy.” Worldwide, epilepsy is the most common serious neurological condition. The range of risk factors for the development of epilepsy varies with age and geographic location. Congenital, developmental and genetic conditions are mostly associated with the development of epilepsy in childhood, adolescence and early adulthood. Head trauma, infections of the central nervous system (CNS) and tumours may occur at any age and may lead to the development of epilepsy. Infections of the CNS are a major risk factor for epilepsy. The reported risk of unprovoked seizures in population-based cohorts of survivors of CNS infections from developed countries is between 6.8 and 8.3 %, and is much higher in resource-poor countries. In this review, the various viral, bacterial, fungal and parasitic infectious diseases of the CNS which result in seizures and epilepsy are discussed. The pathogenesis of epilepsy due to brain infections, as well as the role of experimental models to study mechanisms of epileptogenesis induced by infectious agents, is reviewed. The sterile (non-infectious) inflammatory response that occurs following brain insults is also discussed, as well as its overlap with inflammation due to infections, and the potential role in epileptogenesis. Furthermore, autoimmune encephalitis as a cause of seizures is reviewed. Potential strategies to prevent epilepsy resulting from brain infections and non-infectious inflammation are also considered. PMID:26423537

  19. Progressive myoclonic epilepsies

    Science.gov (United States)

    Michelucci, Roberto; Canafoglia, Laura; Striano, Pasquale; Gambardella, Antonio; Magaudda, Adriana; Tinuper, Paolo; La Neve, Angela; Ferlazzo, Edoardo; Gobbi, Giuseppe; Giallonardo, Anna Teresa; Capovilla, Giuseppe; Visani, Elisa; Panzica, Ferruccio; Avanzini, Giuliano; Tassinari, Carlo Alberto; Bianchi, Amedeo; Zara, Federico

    2014-01-01

    Objective: To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy. Methods: We collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis. Results: We collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings. Conclusions: Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized. PMID:24384641

  20. Epilepsy: Asia versus Africa.

    Science.gov (United States)

    Bhalla, Devender; Tchalla, Achille Edem; Marin, Benoît; Ngoungou, Edgard Brice; Tan, Chong Tin; Preux, Pierre-Marie

    2014-09-01

    Is epilepsy truly an "African ailment"? We aimed to determine this, since international health agencies often refer to epilepsy as an African disease and the scientific literature has spoken the same tone. Various published materials, mainly reports, articles, were used to gather Asian and African evidence on various aspects of epilepsy and many of its risk and associated factors. Our results suggest that in no way can epilepsy be considered as an African ailment and such characterization is most likely based on popular beliefs rather than scientific evidence. In comparison to Africa, Asia has a 5.0% greater burden from all diseases, and is 17.0% more affected from neuropsychiatric disorders (that include epilepsy). Given that more countries in Asia are transitioning, there may be large demographic and lifestyle changes in the near future. However these changes are nowhere close to those expected in Africa. Moreover, 23 million Asians have epilepsy in comparison to 3.3 million Africans and 1.2 million sub-Saharan Africans. In comparison to Africa, Asia has more untreated patients, 55.0% more additional epilepsy cases every year, because of its larger population, with greater treatment cost and possibly higher premature mortality. Of several associated factors discussed herein, many have more importance for Asia than Africa. The current state of epilepsy in Asia is far less than ideal and there is an urgent need to recognize and accept the importance of epilepsy in Asia. In no way can epilepsy be considered as an African ailment. This is most likely based on popular beliefs rather than scientific evidence. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  1. Towards the development of integrated epilepsy services: an audit of documented epilepsy care.

    LENUS (Irish Health Repository)

    Varley, J

    2011-11-17

    Effective chronic disease management (CDM) requires the ready availability and communication of accurate, clinical disease specific information. Using epilepsy as a probe into CDM, we report on the availability and reliability of clinical information in the primary care records of people with epilepsy (PWE). The medical records of 374 PWE from 53 general practices in the Mid-West region of Ireland were examined. Confirmation of an epilepsy diagnosis by a neurologist was documented for 132 (35%) patients. 282 (75%) patients had no documented evidence of receiving specialist neurology review while 149 (40%) had not been reviewed by their GP in the previous two years for their epilepsy. Significant variation in documentation of epilepsy specific information together with an inadequacy and inconsistency of existing epilepsy services was highlighted.

  2. Towards the development of integrated epilepsy services: an audit of documented epilepsy care.

    LENUS (Irish Health Repository)

    Varley, J

    2012-02-01

    Effective chronic disease management (CDM) requires the ready availability and communication of accurate, clinical disease specific information. Using epilepsy as a probe into CDM, we report on the availability and reliability of clinical information in the primary care records of people with epilepsy (PWE). The medical records of 374 PWE from 53 general practices in the Mid-West region of Ireland were examined. Confirmation of an epilepsy diagnosis by a neurologist was documented for 132 (35%) patients. 282 (75%) patients had no documented evidence of receiving specialist neurology review while 149 (40%) had not been reviewed by their GP in the previous two years for their epilepsy. Significant variation in documentation of epilepsy specific information together with an inadequacy and inconsistency of existing epilepsy services was highlighted.

  3. Telemedicine for Epilepsy Support in Resource-poor Settings

    Directory of Open Access Journals (Sweden)

    Victor ePatterson

    2014-08-01

    Full Text Available The ProblemEpilepsy is a common disease worldwide causing significant physical and social. disability. It is one of the most treatable neurological diseases. Yet in rural, poorer countries like much of India and Nepal most people with epilepsy are not on any treatment often because they cannot access doctors. Conventional ApproachesIt is being appreciated that perhaps doctors are not the solution and that enabling health workers to treat epilepsy may be better. Few details however have been put forward about how that might be achieved.Thinking differentlyUntreated epilepsy should be considered a public health problem like HIV/AIDS, the various steps needed for treatment identified and solutions found. Telemedicine ApproachesTelemedicine might contribute to two steps - diagnosis and review. A tool which enables non-doctors to diagnose episodes as epileptic has been developed as a mobile phone app and has good applicability, sensitivity and specificity for the diagnosis. There are a number of ways in which the use of phone review or SMS can improve management.ConclusionsTelemedicine, as part of a public health program, can potentially help the millions of people in the resource-poor world with untreated epilepsy.

  4. Health service provision for people with epilepsy in sub-Saharan Africa: A situational review.

    Science.gov (United States)

    Watila, Musa M; Keezer, Mark R; Angwafor, Samuel A; Winkler, Andrea S; Sander, Josemir W

    2017-05-01

    Epilepsy is a public health issue in sub-Saharan Africa (SSA) where many people with the condition receive no treatment. Health-care services for epilepsy in this region have not been comprehensively assessed. We examined key features of epilepsy health services provided in SSA. This was a scoping review conducted using pre-specified protocols. We implemented an electronic search strategy to identify relevant citations using PUBMED, EMBASE, Web of Science, Scopus, Cumulative Index to Nursing and Allied Health Literature (CINAHL), African Index Medicus (AIM), Open Grey, Cochrane database, and Google Scholar. Articles eligible for full-text review were screened and data of interest were reported. The search identified 81 eligible articles, forty-nine from East Africa, 19 from West Africa, 8 from South Africa, and 5 from Central Africa. A variety of care services were identified, with reporting of rural epilepsy care in 75% of retrieved articles mainly from East and South African countries. The majority of the rural epilepsy clinics were health worker- or nurse-led, reporting good seizure control in about two-thirds of patients using phenobarbital as the most commonly prescribed antiepileptic drug. Funding for rural epilepsy care came mainly from external donor agencies. We attempted to provide a 'snapshot' of epilepsy care services in SSA. The successes achieved in some of the centers are due to the use of existing primary health-care systems and employing non-physician health-care personnel. The true picture of epilepsy care coverage is not apparent due to the lack of data and proper health system structure in most parts of SSA. As more individuals begin to receive care, the long-term funding for epilepsy care in African countries will depend on the commitment of their respective governments. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Hospital-Diagnosed Pertussis Infection in Children and Long-term Risk of Epilepsy

    DEFF Research Database (Denmark)

    Olsen, Morten; Thygesen, Sandra K; Østergaard, John R

    2015-01-01

    , maternal history of epilepsy, presence of congenital malformations, and gestational age. Unique personal identifiers permitted unambiguous data linkage and complete follow-up for death, emigration, and hospital contacts. RESULTS: We identified 4700 patients with pertussis (48% male), of whom 90 developed......: In Denmark, risk of epilepsy was increased in children with hospital-diagnosed pertussis infections compared with the general population; however, the absolute risk was low....

  6. Etiology and electroclinical pattern of late onset epilepsy in Ibadan ...

    African Journals Online (AJOL)

    Late onset epilepsy (LOE) is a common neurological problem throughout the world. It is an area that has not been fully explored in the developing countries like Nigeria. The aim of the present study is to determine the pattern of presentation of late onset epilepsy with the view to identifying the etiologic as well as describe ...

  7. The Pharmacological Basis of Cannabis Therapy for Epilepsy.

    Science.gov (United States)

    Reddy, Doodipala Samba; Golub, Victoria M

    2016-04-01

    Recently, cannabis has been suggested as a potential alternative therapy for refractory epilepsy, which affects 30% of epilepsy, both adults and children, who do not respond to current medications. There is a large unmet medical need for new antiepileptics that would not interfere with normal function in patients with refractory epilepsy and conditions associated with refractory seizures. The two chief cannabinoids are Δ-9-tetrahyrdrocannabinol, the major psychoactive component of marijuana, and cannabidiol (CBD), the major nonpsychoactive component of marijuana. Claims of clinical efficacy in epilepsy of CBD-predominant cannabis or medical marijuana come mostly from limited studies, surveys, or case reports. However, the mechanisms underlying the antiepileptic efficacy of cannabis remain unclear. This article highlights the pharmacological basis of cannabis therapy, with an emphasis on the endocannabinoid mechanisms underlying the emerging neurotherapeutics of CBD in epilepsy. CBD is anticonvulsant, but it has a low affinity for the cannabinoid receptors CB1 and CB2; therefore the exact mechanism by which it affects seizures remains poorly understood. A rigorous clinical evaluation of pharmaceutical CBD products is needed to establish the safety and efficacy of their use in the treatment of epilepsy. Identification of mechanisms underlying the anticonvulsant efficacy of CBD is also critical for identifying other potential treatment options. Copyright © 2016 by The American Society for Pharmacology and Experimental Therapeutics.

  8. Targeting Epilepsy

    Science.gov (United States)

    ... abilities of people with epilepsy, fear seizures, or lack knowledge about seizure first aid or are not comfortable ... they help eliminate barriers to care, such as lack of transportation or ... both English- and Spanish-speaking adults with epilepsy. Researchers are ...

  9. Positron emission tomography in epilepsy

    International Nuclear Information System (INIS)

    Hosokawa, Shinichi; Kato, Motohiro; Otsuka, Makoto; Kuwabara, Yasuo; Ichiya, Yuichi; Goto, Ikuo

    1989-01-01

    Positron emission tomography (PET) was performed with the 18 F-fluoro-deoxy-glucose method on 29 patients with epilepsy (generalized epilepsy, 4; partial epilepsy, 24; undetermined type, 1). The subjects were restricted to patients with epilepsy without focal abnormality on X-CT. All the patients with generalized epilepsy showed a normal pattern on PET. Fourteen out of the 24 patients with partial epilepsy and the 1 with epilepsy of undermined type showed focal hypometabolism on PET. The hypometabolic zone was localized in areas including the temporal cortex in 11 patients, frontal in 2 and thalamus in 1. The location of hypometabolic zone and that of interictal paroxysmal activity on EEG were well correlated in most patients. The patients with poorly-controlled seizure showed a higher incidence of PET abnormality (12 out of 13) than those with well-controlled seizures (2 out of 11). The incidence of abnormality on PET and MRI and the location of both abnormality were not necessarily coincident. These results indicated that the PET examination in epilepsy provides valuable information about the location of epileptic focus, and that the findings on PET in patients with partial epilepsy may be one of the good indicators about the intractability of partial epilepsy, and that PET and MRI provide complementary information in the diagnosis of epilepsy. (author)

  10. Implementation of psychological clinical trials in epilepsy: Review and guide.

    Science.gov (United States)

    Modi, Avani C; Wagner, Janelle; Smith, Aimee W; Kellermann, Tanja S; Michaelis, Rosa

    2017-09-01

    The International League Against Epilepsy (ILAE) Neuropsychiatry commission and United States Institute of Medicine report both identified cognitive and psychological comorbidities as a significant issue for individuals with epilepsy, with rates as high as 60%. However, there is a paucity of evidence-based treatments for many psychological conditions (e.g., learning disorders, cognitive disorders, behavioral disorders). Because of inherent challenges in the implementation of psychological therapy trials and specific considerations for the population with epilepsy, the focus of the current review was to provide guidance and recommendations to conduct psychological trials for individuals with epilepsy. Several key areas will be discussed, including selection of patients, trial design, psychological intervention considerations, outcomes and evaluation of results, publication of trial results, and special issues related to pediatric clinical trials. Rigorously designed psychological therapy trials will set the stage for evidence-based practice in the care of individuals with epilepsy, with the goal of improving seizures, side effects, and HRQOL. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Mutations in KCNT1 cause a spectrum of focal epilepsies

    Science.gov (United States)

    Møller, Rikke S.; Heron, Sarah E.; Larsen, Line H. G.; Lim, Chiao Xin; Ricos, Michael G.; Bayly, Marta A.; van Kempen, Marjan J. A.; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M.; Callen, David; McMahon, Jacinta M.; Yendle, Simone C.; Carvill, Gemma L.; Mefford, Heather C.; Nabbout, Rima; Poduri, Annapurna; Striano, Pasquale; Baglietto, Maria G.; Zara, Federico; Smith, Nicholas J.; Pridmore, Clair; Gardella, Elena; Nikanorova, Marina; Dahl, Hans Atli; Gellert, Pia; Scheffer, Ingrid E.; Gunning, Boudewijn; Kragh-Olsen, Bente; Dibbens, Leanne M.

    2018-01-01

    Summary Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype–phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances. PMID:26122718

  12. 77 FR 59197 - Epilepsy Program

    Science.gov (United States)

    2012-09-26

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Epilepsy... Program Expansion Supplement Award to the Epilepsy Foundation of America. SUMMARY: The Health Resources... Child Health Bureau's Epilepsy Program to the Epilepsy Foundation of America (U23MC19824) to support...

  13. Altered metabolomic-genomic signature: A potential noninvasive biomarker of epilepsy.

    Science.gov (United States)

    Wu, Helen C; Dachet, Fabien; Ghoddoussi, Farhad; Bagla, Shruti; Fuerst, Darren; Stanley, Jeffrey A; Galloway, Matthew P; Loeb, Jeffrey A

    2017-09-01

    This study aimed to identify noninvasive biomarkers of human epilepsy that can reliably detect and localize epileptic brain regions. Having noninvasive biomarkers would greatly enhance patient diagnosis, patient monitoring, and novel therapy development. At the present time, only surgically invasive, direct brain recordings are capable of detecting these regions with precision, which severely limits the pace and scope of both clinical management and research progress in epilepsy. We compared high versus low or nonspiking regions in nine medically intractable epilepsy surgery patients by performing integrated metabolomic-genomic-histological analyses of electrically mapped human cortical regions using high-resolution magic angle spinning proton magnetic resonance spectroscopy, cDNA microarrays, and histological analysis. We found a highly consistent and predictive metabolite logistic regression model with reduced lactate and increased creatine plus phosphocreatine and choline, suggestive of a chronically altered metabolic state in epileptic brain regions. Linking gene expression, cellular, and histological differences to these key metabolites using a hierarchical clustering approach predicted altered metabolic vascular coupling in the affected regions. Consistently, these predictions were validated histologically, showing both neovascularization and newly discovered, millimeter-sized microlesions. Using a systems biology approach on electrically mapped human cortex provides new evidence for spatially segregated, metabolic derangements in both neurovascular and synaptic architecture in human epileptic brain regions that could be a noninvasively detectable biomarker of epilepsy. These findings both highlight the immense power of a systems biology approach and identify a potentially important role that magnetic resonance spectroscopy can play in the research and clinical management of epilepsy. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  14. Neuropsychological and psychological interventions for people with newly diagnosed epilepsy.

    Science.gov (United States)

    Jackson, Cerian F; Makin, Selina M; Baker, Gus A

    2015-07-22

    Many people with epilepsy report experiencing psychological difficulties such as anxiety, depression and neuropsychological deficits including memory problems. Research has shown that these difficulties are often present not only for people with chronic epilepsy but also for people with newly diagnosed epilepsy. Despite this, there are very few published interventions that detail means to help people with newly diagnosed epilepsy manage these problems. To identify and assess possible psychological and neuropsychological interventions for adults with newly diagnosed epilepsy. We searched the following databases on 30 June 2015: the Cochrane Epilepsy Group Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (Ovid), SCOPUS, PsycINFO, CINAHL, ClinicalTrials.gov and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). This review includes all randomised controlled trials, quasi-randomised controlled trials, prospective cohort controlled studies, and prospective before and after studies which include psychological or neuropsychological interventions for people with newly diagnosed epilepsy. We excluded studies that included people with epilepsy and any other psychological disorder or neurological condition. We excluded studies carried out which recruited only children. We used the standard methodological procedure expected by The Cochrane Collaboration. Two authors independently completed data extraction and risk of bias analysis. The results of this were cross-checked and third author resolved any discrepancies. In the event of missing data, we contacted the study authors. Meta-analysis was not completed due to differences in the intervention and outcomes reported in the two studies. We included two randomised controlled trials assessing psychological interventions for people with newly diagnosed epilepsy. One study assessed a cognitive behavioural intervention (CBI) in an adolescent

  15. Epilepsy is Dancing.

    Science.gov (United States)

    Tuft, Mia; Gjelsvik, Bergljot; Nakken, Karl O

    2015-10-01

    In "Epilepsy is Dancing", in Antony and the Johnsons' album "The Crying Light"(2009), the lyrics and accompanying music video depicts an epileptic seizure in which the person is transferred to another beautiful and magical world. This may be called "enchanted epilepsy"; i.e., the experience of epilepsy as deeply nourishing and (positively) transforming, is conveyed not only in the lyrics but also the visual and auditory qualities of the video. The seizure in the video gives associations to Shakespeare's "A Midsummer Night's dream". If epilepsy appears in music lyrics, the focus is mostly on negative aspects of the illness, such as horror, fear and repulsive sexuality associated with the fits [1,2]. Contradictory to these lyrics, Anthony and the Johnsons' song is an example of a positive portrayal of epilepsy. It is open to a multitude of meanings, emotional valence and appraisal of epilepsy. By widening the experiential range associated with epileptic seizures, these lyrics highlight the inherently construed nature of epileptic experience. The song stands out in several ways. First, it describes epilepsy in positive terms, prioritising the euphoric, ecstatic, potentially empowering and enhancing aspects of epileptic seizures. Second, the lyrics and accompanying video point to divine experiences associated with epileptic seizures. Through the lyrics and the music video we are, as an audience, able to sense a snicket of an epileptic seizure, but also the universal experience of loosing control. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Pediatric epilepsy: The Indian experience.

    Science.gov (United States)

    Gadgil, Pradnya; Udani, Vrajesh

    2011-10-01

    Epilepsy is a common clinical entity in neurology clinics. The understanding of the genetics of epilepsy has undergone a sea change prompting re-classification by the International league against epilepsy recently. The prevalence rates of epilepsy in India are similar to those of developed nations. However, the large treatment gap is a major challenge to our public health system. Perinatal injuries are a major causative factor in pediatric group. We have discussed a few common etiologies such as neurocysticercosis and newer genetic epilepsy syndromes. We have also briefly touched upon the Indian experience in pediatric epilepsy surgery.

  17. Attitudes toward epilepsy and perceptions of epilepsy-related stigma in Korean evangelical Christians.

    Science.gov (United States)

    Lee, Sang-Ahm; Choi, Eun-Ju; Jeon, Ji-Ye; Paek, Joon-Hyun

    2017-09-01

    The scriptural description of Jesus driving out an evil spirit from a boy with epilepsy supported the idea of the spiritual nature of epilepsy for centuries. Korea has a shorter history of Christianity than the Western world. We determined whether there are differences in attitudes toward epilepsy and perception of epilepsy-related stigma between people with and without belief in evangelical Christianity in Korea. Data were collected from evangelical churches and theological colleges. People without religious beliefs were enrolled as a control group through convenience sampling. The Public Attitudes Toward Epilepsy (PATE) scale and the modified Stigma Scale for epilepsy were used. Familiarity with and knowledge of epilepsy were also assessed. Evangelical Christians were categorized as professional or nonprofessional depending on whether they had received professional education in Christian theology. A total of 227 evangelical Christians and 139 controls were included. The scores on the Stigma Scale and in the two PATE domains were significantly lower in the professional Christian group than in the controls or the nonprofessional group (pKorea. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Prevalence and etiology of epilepsy in a Norwegian county-A population based study.

    Science.gov (United States)

    Syvertsen, Marte; Nakken, Karl Otto; Edland, Astrid; Hansen, Gunnar; Hellum, Morten Kristoffer; Koht, Jeanette

    2015-05-01

    Epilepsy represents a substantial personal and social burden worldwide. When addressing the multifaceted issues of epilepsy care, updated epidemiologic studies using recent guidelines are essential. The aim of this study was to find the prevalence and causes of epilepsy in a representative Norwegian county, implementing the new guidelines and terminology suggested by the International League Against Epilepsy (ILAE). Included in the study were all patients from Buskerud County in Norway with a diagnosis of epilepsy at Drammen Hospital and the National Center for Epilepsy at Oslo University Hospital. The study period was 1999-2014. Patients with active epilepsy were identified through a systematic review of medical records, containing information about case history, electroencephalography (EEG), cerebral magnetic resonance imaging (MRI), genetic tests, blood samples, treatment, and other investigations. Epilepsies were classified according to the revised terminology suggested by the ILAE in 2010. In a population of 272,228 inhabitants, 1,771 persons had active epilepsy. Point prevalence on January 1, 2014 was 0.65%. Of the subjects registered with a diagnostic code of epilepsy, 20% did not fulfill the ILAE criteria of the diagnosis. Epilepsy etiology was structural-metabolic in 43%, genetic/presumed genetic in 20%, and unknown in 32%. Due to lack of information, etiology could not be determined in 4%. Epilepsy is a common disorder, affecting 0.65% of the subjects in this cohort. Every fifth subject registered with a diagnosis of epilepsy was misdiagnosed. In those with a reliable epilepsy diagnosis, every third patient had an unknown etiology. Future advances in genetic research will probably lead to an increased identification of genetic and hopefully treatable causes of epilepsy. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  19. Educational needs of epileptologists regarding psychiatric comorbidities of the epilepsies: a descriptive quantitative survey.

    Science.gov (United States)

    Mula, Marco; Cavalheiro, Esper; Guekht, Alla; Kanner, Andres M; Lee, Hyang Woon; Özkara, Çiğdem; Thomson, Alfredo; Wilson, Sarah J

    2017-06-01

    Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy. The Task Force designed a quantitative questionnaire to survey the self-perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills. A total of 211 respondents from 36 different countries participated in the survey. Confidence and usefulness scores suggest that responders would most value education and training in the management of specific clinical scenarios. Child neurologists identified major Axis I disorders, such as mood and anxiety disorders, while adult neurologists identified attention deficit hyperactivity disorder, intellectual disabilities, and autistic spectrum disorder as key areas. Both adult and child neurologists identified screening skills as the priority. Psychiatrists mainly valued specific training in the management of psychiatric complications of epilepsy surgery or psychiatric adverse events of antiepileptic drugs. Sessions during congresses and face-to-face meetings represent the preferred educational format, while e-learning modules and review papers were chosen by a minority of respondents. Results of this survey identify key areas for improvement in managing the psychiatric comorbidities of epilepsy and suggest specific strategies to develop better training for clinicians involved in epilepsy care.

  20. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy.

    Science.gov (United States)

    Raymond, A A; Fish, D R; Stevens, J M; Sisodiya, S M; Alsanjari, N; Shorvon, S D

    1994-01-01

    Subependymal heterotopia has recently been recognised as a cause of epilepsy, but the clinical and investigational features have not been fully described. The clinical, psychometric, imaging, and electroencephalographic features of 13 adult patients with subependymal heterotopia and epilepsy have been reviewed. Age at seizure onset ranged from 18 months to 20 years (median 13 years). There were significantly more female (12) than male (1) patients (p < 0.01). Diagnosis of subependymal heterotopia was made by MRI in 11 patients and CT in two. The heterotopic grey matter was nodular in 11 patients and diffuse in two; bilateral in eight and unilateral in five. There were significantly more patients with predominant right than left cerebral hemisphere involvement (p < 0.01). The most commonly involved site was the occipital horn of the lateral ventricles (10 of 13 patients). Eleven patients presented with partial epilepsy, 10 of whom also had secondarily generalised seizures. The clinical description of the seizures often suggested either an occipital (four patients) or temporal (five patients) onset. Two patients presented with absence attacks without clear focal features. Patients demonstrated normal early milestones (12 of 13 patients), including normal motor development (all patients) and average or above average intelligence (10 of 13 patients). An EEG examination showed normal background activity in all but two patients, one of whom had large intracranial haematomas. Epileptiform activity was usually widespread (10 of 13 patients) and in three patients, there was generalised 3-Hz spike and wave activity that had previously led to an erroneous diagnosis of concomitant primary generalised epilepsy. Onset of epilepsy in the second decade of life, normal developmental milestones and intelligence, and the finding of an overwhelming female preponderance differentiates subependymal heterotopia from other cortical dysgeneses. The female preponderance supports the

  1. Epilepsy, excess deaths and years of life lost from external causes.

    Science.gov (United States)

    Nevalainen, Olli; Simola, Mikko; Ansakorpi, Hanna; Raitanen, Jani; Artama, Miia; Isojärvi, Jouko; Auvinen, Anssi

    2016-05-01

    We systematically quantified excess mortality in epilepsy patients by cause of death using the population-attributable fraction and epilepsy-attributable years of potential life lost (YPLL) by age 75 years at ages 15 and over. We updated and undertook a re-review of mortality studies from our previous systematic review following PRISMA guidelines to identify cohort studies of general epilepsy populations reporting a relative risk (RR) of death by cause relative to the background rates in the population. Studies on epilepsy prevalence were identified through published reviews. Country-specific mortality figures were obtained from the WHO World Mortality Database. We performed a pooled analysis with the DerSimonian-Laird random effects method. In countries with very high Human Development Indices, epilepsy contributed to 0.5-1.1 % of all deaths in the total population. Among external causes, suicides (RR 2.9, 95 % confidence interval 2.2-3.8; I(2) 52 %) were the major contributor to YPLL, corresponding to 6.7 % and 4.2 % of excess YPLL due to epilepsy in the United States (US) and in the United Kingdom (UK) in 2010, with 541 (346-792) and 44 (28-65) excess suicide cases, respectively. Fatal accidental falls were more common, with 813 (610-1064) and 95 (71-125) excess deaths in the US and in the UK, but these caused only 2.0 % of excess YPLL as they occurred in older age groups. Suicides were the most important external cause of death in epilepsy patients in terms of excess YPLL, whereas other external causes were either more common in older ages or caused less excess deaths.

  2. Attention and executive functions in a rat model of chronic epilepsy.

    Science.gov (United States)

    Faure, Jean-Baptiste; Marques-Carneiro, José E; Akimana, Gladys; Cosquer, Brigitte; Ferrandon, Arielle; Herbeaux, Karine; Koning, Estelle; Barbelivien, Alexandra; Nehlig, Astrid; Cassel, Jean-Christophe

    2014-05-01

    Temporal lobe epilepsy is a relatively frequent, invalidating, and often refractory neurologic disorder. It is associated with cognitive impairments that affect memory and executive functions. In the rat lithium-pilocarpine temporal lobe epilepsy model, memory impairment and anxiety disorder are classically reported. Here we evaluated sustained visual attention in this model of epilepsy, a function not frequently explored. Thirty-five Sprague-Dawley rats were subjected to lithium-pilocarpine status epilepticus. Twenty of them received a carisbamate treatment for 7 days, starting 1 h after status epilepticus onset. Twelve controls received lithium and saline. Five months later, attention was assessed in the five-choice serial reaction time task, a task that tests visual attention and inhibitory control (impulsivity/compulsivity). Neuronal counting was performed in brain regions of interest to the functions studied (hippocampus, prefrontal cortex, nucleus basalis magnocellularis, and pedunculopontine tegmental nucleus). Lithium-pilocarpine rats developed motor seizures. When they were able to learn the task, they exhibited attention impairment and a tendency toward impulsivity and compulsivity. These disturbances occurred in the absence of neuronal loss in structures classically related to attentional performance, although they seemed to better correlate with neuronal loss in hippocampus. Globally, rats that received carisbamate and developed motor seizures were as impaired as untreated rats, whereas those that did not develop overt motor seizures performed like controls, despite evidence for hippocampal damage. This study shows that attention deficits reported by patients with temporal lobe epilepsy can be observed in the lithium-pilocarpine model. Carisbamate prevents the occurrence of motor seizures, attention impairment, impulsivity, and compulsivity in a subpopulation of neuroprotected rats. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  3. [Effects of temporal lobe epilepsy and idiopathic epilepsy on cognitive function and emotion in children].

    Science.gov (United States)

    Yang, Xiao-Yan; Long, Li-Li; Xiao, Bo

    2016-07-01

    To investigate the effects of temporal lobe epilepsy and idiopathic epilepsy on cognitive function and emotion in children and the risk factors for cognitive impairment. A retrospective analysis was performed for the clinical data of 38 children with temporal lobe epilepsy and 40 children with idiopathic epilepsy. The controls were 42 healthy children. All subjects received the following neuropsychological tests: Montreal Cognitive Assessment (MoCA) scale, verbal fluency test, digit span test, block design test, Social Anxiety Scale for Children (SASC), and Depression Self-rating Scale for Children (DSRSC). Compared with the control group, the temporal lobe epilepsy and idiopathic epilepsy groups showed significantly lower scores of MoCA, verbal fluency, digit span, and block design (Pepilepsy group, the temporal lobe epilepsy group showed significantly lower scores of MoCA, verbal fluency, digit span, and block design (Ptemporal lobe epilepsy group, MoCA score was negatively correlated with SASC score, DSRSC score, and seizure frequency (r=-0.571, -0.529, and -0.545 respectively; Pepilepsy group, MoCA score was also negatively correlated with SASC score, DSRSC score, and seizure frequency (r=-0.542, -0.487, and -0.555 respectively; Ptemporal lobe epilepsy and idiopathic epilepsy show impaired whole cognition, verbal fluency, memory, and executive function and have anxiety and depression, which are more significant in children with temporal lobe epilepsy. High levels of anxiety, depression, and seizure frequency are risk factors for impaired cognitive function.

  4. Genetic and epigenetic mechanisms of epilepsy: a review

    Directory of Open Access Journals (Sweden)

    Chen T

    2017-07-01

    Full Text Available Tian Chen,1,* Mohan Giri,2,* Zhenyi Xia,3 Yadu Nanda Subedi,2 Yan Li1 1Department of Health Management Center, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China; 2National Center for Rheumatic Diseases, Ratopul, Gaushala, Kathmandu, Nepal; 3Department of Thoracic Surgery, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China *These authors contributed equally to this work Abstract: Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11.2-q13.3, and 16p13.11-p13.2, some of which disrupt multiple genes, such as NRXN1, AUTS2, NLGN1, CNTNAP2, GRIN2A, PRRT2, NIPA2, and BMP5, implicated for neurodevelopmental disorders, including intellectual disability and autism. Unfortunately, only a few common genetic variants have been associated with epilepsy. Recent exome-sequencing studies have found some genetic mutations, most of which are located in nonion channel genes such as the LGI1, PRRT2, EFHC1, PRICKLE, RBFOX1, and DEPDC5 and in probands with rare forms of familial epilepsy, and some of these genes are involved with the neurodevelopment. Since epigenetics plays a role in neuronal function from embryogenesis and early brain development to tissue-specific gene expression, epigenetic regulation may contribute to the genetic mechanism of neurodevelopment through which a gene and the environment interacting with each other affect the development of epilepsy. This review focused on the analytic tools used to identify epilepsy and then provided a

  5. WONOEP appraisal: new genetic approaches to study epilepsy

    Science.gov (United States)

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  6. Preeclampsia and risk for epilepsy in offspring

    DEFF Research Database (Denmark)

    Wu, Chunsen; Sun, Yuelian; Vestergaard, Mogens

    2008-01-01

    OBJECTIVE: Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia. METHODS: We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978-2004). Informat......OBJECTIVE: Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia. METHODS: We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978......-2004). Information on preeclampsia (mild, severe, and unspecified), eclampsia, and epilepsy was obtained from the Danish National Hospital Register. Information on gestational age, birth weight, and Apgar score was obtained from the Danish Medical Birth Registry. We used Cox proportional hazard models to estimate...... the incidence rate ratio of epilepsy for children who were exposed to preeclampsia or eclampsia in prenatal life. RESULTS: We identified 45288 (2.9%) children who were exposed to preeclampsia (34823 to mild, 7043 to severe, and 3422 to unspecified preeclampsia) and 654 (0.04%) to eclampsia during their prenatal...

  7. CDKL5 and ARX mutations in males with early-onset epilepsy.

    Science.gov (United States)

    Mirzaa, Ghayda M; Paciorkowski, Alex R; Marsh, Eric D; Berry-Kravis, Elizabeth M; Medne, Livija; Alkhateeb, Asem; Grix, Art; Wirrell, Elaine C; Powell, Berkley R; Nickels, Katherine C; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B; Das, Soma

    2013-05-01

    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only 10 males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging, and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. These 18 patients include eight new males with CDKL5 mutations and 10 with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Review of the use of botanicals for epilepsy in complementary medical systems--Traditional Chinese Medicine.

    Science.gov (United States)

    Xiao, Fenglai; Yan, Bo; Chen, Lei; Zhou, Dong

    2015-11-01

    In traditional Chinese medicine, botanical remedies have been used for centuries to treat seizures. This review aimed to summarize the botanicals that have been used in traditional Chinese medicine to treat epilepsy. We searched Chinese online databases to determine the botanicals used for epilepsy in traditional Chinese medicine and identified articles using a preset search syntax and inclusion criteria of each botanical in the PubMed database to explore their potential mechanisms. Twenty-three botanicals were identified to treat epilepsy in traditional Chinese medicine. The pharmacological mechanisms of each botanical related to antiepileptic activity, which were mainly examined in animal models, were reviewed. We discuss the use and current trends of botanical treatments in China and highlight the limitations of botanical epilepsy treatments. A substantial number of these types of botanicals would be good candidates for the development of novel AEDs. More rigorous clinical trials of botanicals in traditional Chinese medicine for epilepsy treatment are encouraged in the future. This article is part of a Special Issue entitled "Botanicals for Epilepsy". Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Interictal mood and personality disorders in temporal lobe epilepsy and juvenile myoclonic epilepsy.

    Science.gov (United States)

    Perini, G I; Tosin, C; Carraro, C; Bernasconi, G; Canevini, M P; Canger, R; Pellegrini, A; Testa, G

    1996-01-01

    BACKGROUND: Mood disorders have been described as the commonest psychiatric disorders in patients with temporal lobe epilepsy. Secondary depression in temporal lobe epilepsy could be interpreted either as an adjustment reaction to a chronic disease or as a limbic dysfunction. To clarify this issue, a controlled study of psychiatric disorders was conducted in different forms of epileptic and non-epileptic chronic conditions. METHODS: Twenty outpatients with temporal lobe epilepsy, 18 outpatients with juvenile myoclonic epilepsy--a primary generalised seizure disorder--20 matched type I diabetic patients, and 20 matched normal controls were assessed by a structured interview (SADS) and by self rating scales (Beck depression inventory (BDI) and the state and trait anxiety scales STAIX1 and STAIX2). RESULTS: Sixteen (80%) patients with temporal lobe epilepsy fulfilled the criteria for a psychiatric diagnosis at the SADS interview with a significantly higher frequency than patients with juvenile myoclonic epilepsy (22%) and diabetic patients (10%) (P personality or anxiety disorder. Patients with temporal lobe epilepsy scored significantly higher on BDI, STAIX1, and STAIX2 than the three control groups (P personality disorders, often in comorbidity, than patients with juvenile myoclonic epilepsy and diabetic patients suggesting that these psychiatric disorders are not an adjustment reaction to a chronic disease but rather reflect a limbic dysfunction. PMID:8971108

  10. Knowledge about Epilepsy and Attitudes toward Students with Epilepsy among Middle and High School Teachers in Kuwait

    Directory of Open Access Journals (Sweden)

    Eman Al-Hashemi

    2016-01-01

    Full Text Available Background and Objectives. Attitudes toward students with epilepsy and epilepsy-related knowledge of teachers are crucial for child’s safety in the school. The aim of this study was to evaluate teachers’ knowledge and attitudes toward epilepsy. Methods. This cross-sectional study included 824 teachers from 24 randomly selected middle and high schools. Scale of Attitudes Toward Persons with Epilepsy (ATPE was modified to assess teachers’ knowledge about epilepsy and attitudes toward students with epilepsy. Results. Median knowledge score about epilepsy was 5 (out of 13, while median attitude score was 10 (out of 15. Both knowledge and attitude median scores were significantly higher in senior teachers with longer teaching experience and in respondents who dealt with a person with epilepsy. There was significant association between knowledge score and attitude score (p<0.01. Logistic regression showed that significant variables, independently associated with poor knowledge after adjusting for possible confounders, were not having a family member with epilepsy (p=0.009, unawareness of life circumstances of persons with epilepsy (p=0.048, and a poor attitude score (p<0.001. Conclusion. School teachers in Kuwait have relatively poor knowledge about epilepsy but have positive attitudes toward students with epilepsy. A number of historical and stigmatizing ideas about epilepsy still exist. It is recommended to provide teachers with information about handling seizures in the educational setting through development and implementation of epilepsy education programs.

  11. Trajectories of health-related quality of life in children with epilepsy: a cohort study.

    Science.gov (United States)

    Ferro, Mark A; Camfield, Carol S; Levin, Simon D; Smith, Mary Lou; Wiebe, Samuel; Zou, Guangyong; Speechley, Kathy N

    2013-11-01

    Little is known about subgroups of children with epilepsy who may experience less favorable outcomes over time. The objectives of this study were to document trajectories of health-related quality of life (HRQL) and to identify predictors of the trajectory group in children with new-onset epilepsy. Data were obtained from the Health Related Quality of Life in Children with Epilepsy Study, a prospective multisite study of children 4-12 years old with new-onset epilepsy followed for 24 months. Health-related quality of life was measured using the Quality of Life in Childhood Epilepsy questionnaire. Trajectories of HRQL were investigated using latent class trajectory modeling. Multinomial logistic regression was used to identify child, parent, and family predictors of HRQL trajectories. A total of 374 families responded at baseline and 283 (76%) completed the study. Five HRQL trajectories were observed: low-increasing (4%), moderate-decreasing (12%), moderate-increasing (22%), high-increasing (32%), and high-stable (30%). Many children in the low-increasing, moderate-increasing, high-increasing, and high-stable had clinically meaningful improvements in HRQL: 82%, 47%, 63%, and 44%, respectively. In contrast, the majority of children in the moderate-decreasing group (56%) experienced clinically meaningful declines in their HRQL. Factors predicting trajectories were number of antiepileptic drugs prescribed, presence of comorbid behavior or cognitive problems, parent depression, and family functioning and demands. Results suggested that children with epilepsy are not homogenous but rather consist of groups with different trajectories and unique predictors of HRQL. Problems associated with child behavior and cognition were the strongest predictors identified. Given that several risk factors are modifiable, it is important to examine these as potential targets within a family-centered framework to improve HRQL of children with new-onset epilepsy. Wiley Periodicals, Inc.

  12. Epilepsy: some controversies, some knowledge and some experience from Cambodia.

    Science.gov (United States)

    Hun, Chamroeun; Hok, Tola; Ros, Sina; Chan, Samleng; Bhalla, Devender

    2014-01-01

    Epilepsy-related health outcomes remain unacceptably low in much of the developing world. According to us, it is because of the failure since long to see, and address, epilepsy beyond its preset conventional image. The objective of this paper was to highlight the presence, and influence, of these conventional practices and also to demonstrate what happened when a bold unconventional approach to address epilepsy was taken in Cambodia. Data are taken from existing published literature on epilepsy as well as our field experience during several population-based surveys conducted in Cambodia. We complimented this with our knowledge gained over this long period. It is demonstrated that epilepsy is far more important in Asia that it is currently considered to be, and also vis-à-vis other geographic regions. Pregnancy and birth-related factors carry far higher odds for epilepsy than several "highly vocal" infections. A refocus in epilepsy is required to help move from its traditional negative image to an image where epilepsy is considered a "positive-looking" disorder that is full of "opportunities;" such as availability of safe effective inexpensive treatment, etc. Stigma is a two-side entity (i.e., it is present, and it is influential), and diligence should be therefore practiced before using the stigma label. Nevertheless, psychosocial aspects shouldn't be limited to stigma or Jacoby stigma scale alone. Quality of life is a subjective phenomenon, and patients should determine directly what affects them. It is highly desirable that if we want to find newer answers to old problems in epilepsy, we need to shed our conventional approach and preset conclusions. We should choose to move toward "opportunities" visibly present in epilepsy. Our Cambodian experience demonstrates more intimately that opportunities do get identified when preset conclusions are questioned, and an approach that goes beyond expected and by default is taken.

  13. Nuclear imaging in epilepsy

    International Nuclear Information System (INIS)

    Chun, Kyung Ah

    2007-01-01

    Correct localization of epileptogenic zone is important for the successful epilepsy surgery. Both ictal perfusion single photon emission computed tomography (SPECT) and interictal F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) can provide useful information in the presurgical localization of intractable partial epilepsy. These imaging modalities have excellent diagnostic sensitivity in medial temporal lobe epilepsy and provide good presurgical information in neocortical epilepsy. Also provide functional information about cellular functions to better understand the neurobiology of epilepsy and to better define the ictal onset zone, symptomatogenic zone, propagation pathways, functional deficit zone and surround inhibition zones. Multimodality imaging and developments in analysis methods of ictal perfusion SPECT and new PET ligand other than FDG help to better define the localization

  14. Nuclear imaging in epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Chun, Kyung Ah [Yeungnam University Hospital, Daegu (Korea, Republic of)

    2007-04-15

    Correct localization of epileptogenic zone is important for the successful epilepsy surgery. Both ictal perfusion single photon emission computed tomography (SPECT) and interictal F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) can provide useful information in the presurgical localization of intractable partial epilepsy. These imaging modalities have excellent diagnostic sensitivity in medial temporal lobe epilepsy and provide good presurgical information in neocortical epilepsy. Also provide functional information about cellular functions to better understand the neurobiology of epilepsy and to better define the ictal onset zone, symptomatogenic zone, propagation pathways, functional deficit zone and surround inhibition zones. Multimodality imaging and developments in analysis methods of ictal perfusion SPECT and new PET ligand other than FDG help to better define the localization.

  15. MRI findings in glutamic acid decarboxylase associated autoimmune epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Fredriksen, Jason R.; Carr, Carrie M.; Koeller, Kelly K.; Verdoorn, Jared T.; Kotsenas, Amy L. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Gadoth, Avi; Pittock, Sean J. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

    2018-03-15

    Glutamic acid decarboxylase (GAD65) has been implicated in a number of autoimmune-associated neurologic syndromes, including autoimmune epilepsy. This study categorizes the spectrum of MRI findings in patients with a clinical diagnosis of autoimmune epilepsy and elevated serum GAD65 autoantibodies. An institutional database search identified patients with elevated serum GAD65 antibodies and a clinical diagnosis of autoimmune epilepsy who had undergone brain MRI. Imaging studies were reviewed by three board-certified neuroradiologists and one neuroradiology fellow. Studies were evaluated for cortical/subcortical and hippocampal signal abnormality, cerebellar and cerebral volume loss, mesial temporal sclerosis, and parenchymal/leptomeningeal enhancement. The electronic medical record was reviewed for relevant clinical information and laboratory markers. A study cohort of 19 patients was identified. The majority of patients were female (84%), with a mean age of onset of 27 years. Serum GAD65 titers ranged from 33 to 4415 nmol/L (normal < 0.02 nmol/L). The most common presentation was medically intractable, complex partial seizures with temporal lobe onset. Parenchymal atrophy was the most common imaging finding (47%), with a subset of patients demonstrating cortical/subcortical parenchymal T2 hyperintensity (37%) or abnormal hippocampal signal (26%). No patients demonstrated abnormal parenchymal/leptomeningeal enhancement. The most common MRI finding in GAD65-associated autoimmune epilepsy is disproportionate parenchymal atrophy for age, often associated with abnormal cortical/subcortical T2 hyperintensities. Hippocampal abnormalities are seen in a minority of patients. This constellation of findings in a patient with medically intractable epilepsy should raise the possibility of GAD65 autoimmunity. (orig.)

  16. International veterinary epilepsy task force consensus proposal : diagnostic approach to epilepsy in dogs

    NARCIS (Netherlands)

    De Risio, Luisa; Bhatti, Sofie; Muñana, Karen; Penderis, Jacques; Stein, Veronika; Tipold, Andrea; Berendt, Mette; Farqhuar, Robyn; Fischer, Andrea; Long, Sam; Mandigers, Paul J J; Matiasek, Kaspar; Packer, Rowena M A; Pakozdy, Akos; Patterson, Ned; Platt, Simon; Podell, Michael; Potschka, Heidrun; Batlle, Martí Pumarola; Rusbridge, Clare; Volk, Holger A

    2015-01-01

    This article outlines the consensus proposal on diagnosis of epilepsy in dogs by the International Veterinary Epilepsy Task Force. The aim of this consensus proposal is to improve consistency in the diagnosis of epilepsy in the clinical and research settings. The diagnostic approach to the patient

  17. Epilepsy priorities in Europe: A report of the ILAE-IBE Epilepsy Advocacy Europe Task Force.

    Science.gov (United States)

    Baulac, Michel; de Boer, Hanneke; Elger, Christian; Glynn, Mike; Kälviäinen, Reetta; Little, Ann; Mifsud, Janet; Perucca, Emilio; Pitkänen, Asla; Ryvlin, Philippe

    2015-11-01

    The European Forum on Epilepsy Research (ERF2013), which took place in Dublin, Ireland, on May 26-29, 2013, was designed to appraise epilepsy research priorities in Europe through consultation with clinical and basic scientists as well as representatives of lay organizations and health care providers. The ultimate goal was to provide a platform to improve the lives of persons with epilepsy by influencing the political agenda of the EU. The Forum highlighted the epidemiologic, medical, and social importance of epilepsy in Europe, and addressed three separate but closely related concepts. First, possibilities were explored as to how the stigma and social burden associated with epilepsy could be reduced through targeted initiatives at EU national and regional levels. Second, ways to ensure optimal standards of care throughout Europe were specifically discussed. Finally, a need for further funding in epilepsy research within the European Horizon 2020 funding programme was communicated to politicians and policymakers participating to the forum. Research topics discussed specifically included (1) epilepsy in the developing brain; (2) novel targets for innovative diagnostics and treatment of epilepsy; (3) what is required for prevention and cure of epilepsy; and (4) epilepsy and comorbidities, with a special focus on aging and mental health. This report provides a summary of recommendations that emerged at ERF2013 about how to (1) strengthen epilepsy research, (2) reduce the treatment gap, and (3) reduce the burden and stigma associated with epilepsy. Half of the 6 million European citizens with epilepsy feel stigmatized and experience social exclusion, stressing the need for funding trans-European awareness campaigns and monitoring their impact on stigma, in line with the global commitment of the European Commission and with the recommendations made in the 2011 Written Declaration on Epilepsy. Epilepsy care has high rates of misdiagnosis and considerable variability in

  18. Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.

    Science.gov (United States)

    Bianchin, Marino Muxfeldt; Londero, Renata Gomes; Lima, José Eduardo; Bigal, Marcelo Eduardo

    2010-08-01

    The association of epilepsy and migraine has been long recognized. Migraine and epilepsy are both chronic disorders with episodic attacks. Furthermore, headache may be a premonitory or postdromic symptom of seizures, and migraine headaches may cause seizures per se (migralepsy). Migraine and epilepsy are comorbid, sharing pathophysiological mechanisms and common clinical features. Several recent studies identified common genetic and molecular substrates for migraine and epilepsy, including phenotypic-genotypic correlations with mutations in the CACNA1A, ATP1A2, and SCN1A genes, as well as in syndromes due to mutations in the SLC1A3, POLG, and C10orF2 genes. Herein, we review the relationship between migraine and epilepsy, focusing on clinical aspects and some recent pathophysiological and molecular studies.

  19. Epilepsy and vaccinations: Italian guidelines.

    Science.gov (United States)

    Pruna, Dario; Balestri, Paolo; Zamponi, Nelia; Grosso, Salvatore; Gobbi, Giuseppe; Romeo, Antonino; Franzoni, Emilio; Osti, Maria; Capovilla, Giuseppe; Longhi, Riccardo; Verrotti, Alberto

    2013-10-01

    Reports of childhood epilepsies in temporal association with vaccination have had a great impact on the acceptance of vaccination programs by health care providers, but little is known about this possible temporal association and about the types of seizures following vaccinations. For these reasons the Italian League Against Epilepsy (LICE), in collaboration with other Italian scientific societies, has decided to generate Guidelines on Vaccinations and Epilepsy. The aim of Guidelines on Vaccinations and Epilepsy is to present recent unequivocal evidence from published reports on the possible relationship between vaccines and epilepsy in order to provide information about contraindications and risks of vaccinations in patients with epilepsy. The following main issues have been addressed: (1) whether contraindications to vaccinations exist in patients with febrile convulsions, epilepsy, and/or epileptic encephalopathies; and (2) whether any vaccinations can cause febrile seizures, epilepsy, and/or epileptic encephalopathies. Diphtheria-tetanus-pertussis (DTP) vaccination and measles, mumps, and rubella vaccination (MMR) increase significantly the risk of febrile seizures. Recent observations and data about the relationships between vaccination and epileptic encephalopathy show that some cases of apparent vaccine-induced encephalopathy could in fact be caused by an inherent genetic defect with no causal relationship with vaccination. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  20. Evaluation of knowledge about epilepsy and attitudes towards patients with epilepsy among university students in Upper Egypt.

    Science.gov (United States)

    Thabit, Mohamed N; Sayed, Mohamed A; Ali, Magda M

    2018-05-05

    Epilepsy is a major public health problem worldwide. There are many misconceptions about people's knowledge and attitudes about epilepsy, which influence people's behavior towards patients with epilepsy. We conducted a cross-sectional study in Sohag University, a public Egyptian University, in Upper Egypt. We used an Arabic language designed questionnaire to assess people's knowledge about epilepsy and their attitudes towards patients with epilepsy. We included a total of 920 students in the study. 12.4% of study respondents had never heard of or read about epilepsy. Moreover, there was much misunderstanding about the etiology of epilepsy, as 68.2% of epileptic and 74.5% of nonepileptic respondents believe epilepsy is caused by evil spirits and evil eyes or due to psychiatric disorders. There were also many people who held negative attitudes towards patients with epilepsy in regards to major life milestones such as marriage and having children. Among nonepileptics, 54.5% believe epileptics should not marry and 49.9% believe they should not have children. Among patients with epilepsy, these percentages are 27.3% and 36.4% respectively. Knowledge about epilepsy is insufficient and should be increased. The attitudes towards patients with epilepsy are negative and should be changed in Upper Egypt. Copyright © 2018 Elsevier B.V. All rights reserved.

  1. Recent advances in epilepsy genetics.

    Science.gov (United States)

    Orsini, Alessandro; Zara, Federico; Striano, Pasquale

    2018-02-22

    In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Parental concerns towards children and adolescents with epilepsy in Sri Lanka--Qualitative study.

    Science.gov (United States)

    Murugupillai, Roshini; Wanigasinghe, Jithangi; Muniyandi, Ravi; Arambepola, Carukshi

    2016-01-01

    Social, cultural, psychological and many other factors significantly impact the lives of epileptic children and their families. Parental concerns towards their children are less known in south Asian children with epilepsy. We aimed to identify the parental concerns regarding their children and adolescents with epilepsy in Sri Lanka. We carried out qualitative study in 3 districts of Sri Lanka, comprising 16 in-depth interviews with parents of children and adolescents with epilepsy and 3 focus group discussions with primary caregivers of epileptic children and key informants (schoolteachers, public health staffs). Content analysis of the interview data was performed. Parental concerns were spread among seven themes that emerged from the content analysis. These concerns were about the child's functioning in areas such as physical, behavioural, psychological and social, education, concerns related to anti-epileptic therapy and epilepsy as a disease. Parents were more concerned about their child's safety, educational achievements and future prospects in terms of employment and marriage. Unpredictability of seizures, fear of stigma and unawareness of epilepsy were the main reasons voiced by the parents for having such concerns. Increased concern and perception of vulnerability was seen among parents whose children had epilepsy and co-morbid illness. Parental concerns towards their children and adolescents show a multidimensional construct. Unpredictability of seizures, fear of stigma and unawareness of epilepsy were identified as key influential factors in moulding the parental concerns. Copyright © 2015. Published by Elsevier Ltd.

  3. From the editors: Epilepsia's 2014 Operational Definition of Epilepsy survey.

    Science.gov (United States)

    Mathern, Gary W; Beninsig, Laurie; Nehlig, Astrid

    2014-11-01

    From March 19 to June 30, 2014, Epilepsia conducted an open access online survey asking directed questions related to the 2014 Operational Definition of Epilepsy. This study reports the findings of that poll. The survey consisted of seven questions. Three questions addressed: (1) Criteria for when a person could be considered to have epilepsy after a single seizure; (2) if individuals with reflex seizures (unprovoked) have epilepsy; and (3) when epilepsy could be considered "resolved." Four added questions asked if responders were medical personal compared with patients and family members, geographic region of residence based on International League Against Epilepsy (ILAE) regions, and if responders had read the paper and if they were ILAE/International Bureau for Epilepsy (IBE) members. Of 476 that started the survey, 324 (68%) completed it. As recommended in the ILAE report, 43% agreed that if the chance of a second seizure after a first one was 61-90%, then a person could be considered to have epilepsy. More medical professionals agreed with the 61-90% criteria (55%) compared with patients (21%), while more patients indicated that epilepsy should only be defined after two unprovoked seizures (51%) compared with medical professionals (21%; p < 0.0001). The majority indicated that reflex seizures qualify a person as having epilepsy (79%). As recommended in the ILAE report, 51% agreed that the definition of a person with "resolved" epilepsy would be 10 years seizure-free and off medication for the last 5 years. More medical professionals agreed with this definition (59%) compared with patients (37%), while more patients indicated that epilepsy is never resolved (32%) compared with medical professionals (7%; p < 0.0001). There were no differences based on geographic residence. This survey found that the ILAE recommendations had the highest responses. However, there was clear disagreement with identified differences comparing medical personal with patients

  4. [Sleep disorders in epilepsy].

    Science.gov (United States)

    Kotova, O V; Akarachkova, E S

    2014-01-01

    The review of the literature on sleep disorders in epilepsy over the last two decades is presented. Paroxysmal phenomena of epileptic origin, nonepileptic paroxysms, antiepileptic drugs, polypragmasia and comorbid depression may affect sleep in epilepsy.Shortening of sleep time may cause seizures, hallucinations and depression because sleep plays an important role in the regulation of excitatory and inhibitory processes in the brain both in healthy people and in patients with epilepsy. According to the literature data, drugs (short treatment courses of hypnotics) or nonpharmacological methods should be used for treatment insomnia inpatients with epilepsy.

  5. [Building epilepsy care network in Japan].

    Science.gov (United States)

    Otsuki, Taisuke

    2012-01-01

    Number of epilepsy patient in Japan officially surveyed by our government in 2008 is 219,000, which is only 0.17% of the total population and less than one third of the prevalence rate reported in Western countries. Number of epilepsy surgery per year in Japan is also low and less than half of other countries such as US, UK and Korea. These numbers may suggest that epilepsy care in Japan is not sufficient to cover all hidden medical needs of people with epilepsy at present. To solve this issue, our research group funded by the government have started to build an epilepsy care network among primary care physicians, secondary care neurology specialists and tertiary care epilepsy centers by utilizing a web site: Epilepsy Care Network-Japan (http://www.ecn-japan.com/) from July 2012. We are also proposing an epilepsy care algorithm suitable for our complex medical community consisted with various neurology specialists such as pediatric and adult neurologists, neurosurgeons and psychiatrists. Building Epilepsy Care Network in Japan may facilitate better medical and social support for people with epilepsy in Japan.

  6. Risk of epilepsy in opposite-sex and same-sex twins

    DEFF Research Database (Denmark)

    Mao, Yanyan; Ahrenfeldt, Linda Juel; Christensen, Kaare

    2018-01-01

    Background: There is a complex interaction between female and male sex hormones and the risk of epilepsy. Whether prenatal exposure to higher levels of sex hormones affects the development of epilepsy in childhood or later in life is not well known. The sex hormone environment of fetuses may...... be affected by the sex of the co-twin. We estimated the risk of epilepsy for twins with an opposite-sex (OS) co-twin compared with twins with a same-sex (SS) co-twin. Methods: From the Danish Twin Registry, we identified OS female twins (n = 11,078), SS female twins (n = 19,186), OS male twins (n = 11...

  7. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    DEFF Research Database (Denmark)

    Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J

    2009-01-01

    We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously...... associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date....

  8. Neuroinflammatory targets and treatments for epilepsy validated in experimental models.

    Science.gov (United States)

    Aronica, Eleonora; Bauer, Sebastian; Bozzi, Yuri; Caleo, Matteo; Dingledine, Raymond; Gorter, Jan A; Henshall, David C; Kaufer, Daniela; Koh, Sookyong; Löscher, Wolfgang; Louboutin, Jean-Pierre; Mishto, Michele; Norwood, Braxton A; Palma, Eleonora; Poulter, Michael O; Terrone, Gaetano; Vezzani, Annamaria; Kaminski, Rafal M

    2017-07-01

    A large body of evidence that has accumulated over the past decade strongly supports the role of inflammation in the pathophysiology of human epilepsy. Specific inflammatory molecules and pathways have been identified that influence various pathologic outcomes in different experimental models of epilepsy. Most importantly, the same inflammatory pathways have also been found in surgically resected brain tissue from patients with treatment-resistant epilepsy. New antiseizure therapies may be derived from these novel potential targets. An essential and crucial question is whether targeting these molecules and pathways may result in anti-ictogenesis, antiepileptogenesis, and/or disease-modification effects. Therefore, preclinical testing in models mimicking relevant aspects of epileptogenesis is needed to guide integrated experimental and clinical trial designs. We discuss the most recent preclinical proof-of-concept studies validating a number of therapeutic approaches against inflammatory mechanisms in animal models that could represent novel avenues for drug development in epilepsy. Finally, we suggest future directions to accelerate preclinical to clinical translation of these recent discoveries. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  9. Epilepsy treatment and creativity.

    Science.gov (United States)

    Zubkov, Sarah; Friedman, Daniel

    2016-04-01

    Creativity can be defined as the ability to understand, develop, and express, in a systematic fashion, novel orderly relationships. It is sometimes difficult to separate cognitive skills requisite for the creative process from the drive that generates unique new ideas and associations. Epilepsy itself may affect the creative process. The treatment of epilepsy and its comorbidities, by altering or disrupting the same neural networks through antiseizure drugs (ASDs), treatment of epilepsy comorbidities, ablative surgery, or neurostimulation may also affect creativity. In this review, we discuss the potential mechanisms by which treatment can influence the creative process and review the literature on the consequences of therapy on different aspects of creativity in people with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Management of epilepsy in elderly

    Directory of Open Access Journals (Sweden)

    Harsono Harsono

    2003-03-01

    Full Text Available Management of epilepsy in elderly requires understanding the unique biochemical and pharmacological characteristics of these patients. Management decisions must be based on accurate classification of seizures or epilepsy syndromes, a thorough neurological assessment to define etiology, and a comprehensive assessment of the patient’s health and living situation. Concomitant illnesses such as neurological, psychiatric, metabolic, or cardiac disorders will require individualization of plans and instructions. Specific problems of treatment of epilepsy in the elderly compared to childhood patients are as follows: distinctive range of causes of epilepsy, distinctive differential diagnosis, concurrent pathologies unrelated to epilepsy, pharmacokinetic and pharmacodynamic differences, and distinctive psychosocial effects. (Med J Indones 2003; 12: 40-7 Keywords:  epilepsy, elderly, management, concomitant illness, pharmacokinetic

  11. Epilepsy, culture, identity and well-being: a study of the social, cultural and environmental context of epilepsy in Cameroon.

    Science.gov (United States)

    Allotey, Pascale; Reidpath, Daniel

    2007-05-01

    Epilepsy presents an identity of exclusion, which at multiple levels hinders the ability to engage with one's community. This article describes an exploratory, mixed methods study (N = 42) of the relationship between the social, cultural and environmental context and the experience of living with epilepsy in Cameroon. Participants were identified as 'epileptics', consequently restrictions placed on them reduced their ability to perform traditional roles, affected their social value and excluded them from their communities. Participants detail the effects of their reduced 'social value' and the challenges they face in attempts to be re-integrated as productive and functioning members of society.

  12. Neurological Autoantibody Prevalence in Epilepsy of Unknown Etiology.

    Science.gov (United States)

    Dubey, Divyanshu; Alqallaf, Abdulradha; Hays, Ryan; Freeman, Matthew; Chen, Kevin; Ding, Kan; Agostini, Mark; Vernino, Steven

    2017-04-01

    Autoimmune epilepsy is an underrecognized condition, and its true incidence is unknown. Identifying patients with an underlying autoimmune origin is critical because these patients' condition may remain refractory to conventional antiseizure medications but may respond to immunotherapy. To determine the prevalence of neurological autoantibodies (Abs) among adult patients with epilepsy of unknown etiology. Consecutive patients presenting to neurology services with new-onset epilepsy or established epilepsy of unknown etiology were identified. Serum samples were tested for autoimmune encephalitis Abs as well as thyroperoxidase (TPO) and glutamic acid decarboxylase 65 (GAD65) Abs. An antibody prevalence in epilepsy (APE) score based on clinical characteristics was assigned prospectively. Data were collected from June 1, 2015, to June 1, 2016. Presence of neurological Abs. A score based on clinical characteristics was assigned to estimate the probability of seropositivity prior to antibody test results. Good seizure outcome was estimated on the basis of significant reduction of seizure frequency at the first follow-up or seizure freedom. Of the 127 patients (68 males and 59 females) enrolled in the study, 15 were subsequently excluded after identification of an alternative diagnosis. Serum Abs suggesting a potential autoimmune etiology were detected in 39 (34.8%) cases. More than 1 Ab was detected in 7 patients (6.3%): 3 (2.7%) had TPO-Ab and voltage-gated potassium channel complex (VGKCc) Ab, 2 (1.8%) had GAD65-Ab and VGKCc-Ab, 1 had TPO-Ab and GAD65-Ab, and 1 had anti-Hu Ab and GAD65-Ab. Thirty-two patients (28.6%) had a single Ab marker. Among 112 patients included in the study, 15 (13.4%) had TPO-Ab, 14 (12.5%) had GAD65-Ab, 12 (10.7%) had VGKCc (4 of whom were positive for leucine-rich glioma-inactivated protein 1 [LGI1] Ab), and 4 (3.6%) had N-methyl-D-aspartate receptor (NMDAR) Ab. Even after excluding TPO-Ab and low-titer GAD65-Ab, Abs strongly suggesting an

  13. The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.

    Science.gov (United States)

    Klein, Karl Martin; Pendziwiat, Manuela; Eilam, Anda; Gilad, Ronit; Blatt, Ilan; Rosenow, Felix; Kanaan, Moien; Helbig, Ingo; Afawi, Zaid

    2017-07-01

    Mutations or structural genomic alterations of the X-chromosomal gene ARHGEF9 have been described in male and female patients with intellectual disability. Hyperekplexia and epilepsy were observed to a variable degree, but incompletely described. Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. The four affected male siblings, their unaffected parents and two unaffected female siblings were recruited and phenotyped. Parametric linkage analysis was performed using SNP microarrays. Variants from exome sequencing in two affected individuals were confirmed by Sanger sequencing. All affected male siblings had febrile seizures from age 2-3 years and intellectual disability. Three developed afebrile seizures between age 7-17 years. Three showed focal seizure semiology. None had hyperekplexia. A novel ARHGEF9 variant (c.967G>A, p.G323R, NM_015185.2) was hemizygous in all affected male siblings and heterozygous in the mother. This family reveals that the phenotypic spectrum of ARHGEF9 is broader than commonly assumed and includes febrile seizures and focal epilepsy with intellectual disability in the absence of hyperekplexia or other clinically distinguishing features. Our findings suggest that pathogenic variants in ARHGEF9 may be more common than previously assumed in patients with intellectual disability and mild epilepsy.

  14. Prevalence and treatment gap in childhood epilepsy in a north Indian city: a community-based study.

    Science.gov (United States)

    Pandey, Swati; Singhi, Pratibha; Bharti, Bhavneet

    2014-04-01

    Epilepsy is one of the most common neurological disorders prevalent in childhood period. There is scarcity of epidemiological data, required to plan services in resource constrained developing nations. To study the prevalence and treatment gap in childhood epilepsy in north Indian city, in the age group of 1-18 years. A two stage stratified cluster sampling; probability proportionate to size (PPS) was employed. A ten question screening questionnaire was employed to identify the presence of epilepsy. Definitions provided by International League against Epilepsy (ILAE) were used to classify screen positive subjects as epilepsy and to calculate the treatment gap. The prevalence rate for epilepsy was 6.24/1000 population. Febrile seizures and neurocysticercosis were most common causes of symptomatic seizures in childhood. This study of epidemiology of epilepsy provides valuable aid in optimizing effective community approach, thereby improving outcomes of childhood epilepsy.

  15. Preferences of Patients for Discussing Sudden Unexpected Death in Epilepsy

    Directory of Open Access Journals (Sweden)

    Sūna Normunds

    2017-08-01

    Full Text Available People with epilepsy have increased mortality rates, which is partially attributed to sudden unexpected death in epilepsy syndrome (SUDEP. Poor seizure control appears to be the strongest SUDEP risk factor. Management of epilepsy and adherence to therapy is critical to seizure control. The belief by caregivers of negative influence caused by being informed about the syndrome is the main reason SUDEP is not disclosed. There are no clear recommendations when to disclose the risk of SUDEP and how much information should be provided. We addressed the preferences of Latvian epilepsy patients for discussing SUDEP as well as awareness of the syndrome. Our study involved 55 epilepsy patients. We found that, as in other studies, our patients were relatively well informed about SUDEP. We found that a considerable proportion of patients preferred to receive information about SUDEP from a general practitioner. We note the belief of patients that the disclosure of SUDEP would either improve or have no effect on the quality of life. We were able to identify groups of patients with a self-reported belief of more frequent expected anxiety and poor adherence to medical treatment. Our data improves the understanding of preferences of patient for discussing the negative aspects of epilepsy.

  16. Obstructive sleep apnea in children with cerebral palsy and epilepsy.

    Science.gov (United States)

    Garcia, John; Wical, Beverly; Wical, William; Schaffer, Leah; Wical, Thomas; Wendorf, Heather; Roiko, Samuel

    2016-10-01

    To examine the risk of obstructive sleep apnea (OSA) in children with cerebral palsy (CP) and/or epilepsy. This cross-sectional study employs the Pediatric Sleep Questionnaire (PSQ), the Gross Motor Function Classification System (GMFCS), and chart review to identify symptoms of OSA in children presenting to a multi-specialty pediatric healthcare institution. Two-hundred and fifteen patients were grouped into those with epilepsy (n=54), CP (n=18), both (n=55), and neither (comparison group, n=88). The comparison group comprised children with developmental disabilities but not children with typical development. Significantly increased PSQ scores (indicating increased risk of OSA) were found among children with CP (58%) and CP with epilepsy (67%) than among the comparison group (27%; pChildren with both CP and epilepsy had a greater number of increased PSQ scores compared with CP alone (pchildren at risk of OSA (46%) than did the medical record review for symptoms of OSA (8.2%, pChildren with CP of greater severity or comorbid epilepsy are at increased risk of OSA. This study supports the routine questionnaire-based assessment for OSA as a regular part of the care of all children with CP, especially in those with more severe CP and those with epilepsy. © 2016 Mac Keith Press.

  17. Clinical features, proximate causes, and consequences of active convulsive epilepsy in Africa.

    Science.gov (United States)

    Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian G R; Newton, Charles R J C; Twine, Rhian; Gómez Olivé, F Xavier; Collinson, Mark; Kahn, Kathleen; Tollman, Stephen; Masanja, Honratio; Mathew, Alexander; Pariyo, George; Peterson, Stefan; Ndyomughenyi, Donald; Bauni, Evasius; Kamuyu, Gathoni; Odera, Victor Mung'ala; Mageto, James O; Ae-Ngibise, Ken; Akpalu, Bright; Agbokey, Francis; Adjei, Patrick; Owusu-Agyei, Seth; Kleinschmidt, Immo; Doku, Victor C K; Odermatt, Peter; Nutman, Thomas; Wilkins, Patricia; Noh, John

    2014-01-01

    Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. We performed a detailed clinical and neurophysiologic description of ACE cases identified from a community survey of 584,586 people using medical history, neurologic examination, and electroencephalography (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya; and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types, and neurologic deficits) were present in 58% of ACE cases, and these varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the most common drug [95%]), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; and acute encephalopathy (10%) and head injury prior to seizure onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%), and neurologic deficits (15%). The consequences of ACE were burns (16%), head injuries (postseizure) (1%), lack of education (43%), and being unmarried (67%) or unemployed (57%) in adults, all significantly more common than in those without epilepsy. There were significant differences in the comorbidities across sites. Focal features are common in ACE, suggesting identifiable and preventable causes. Malnutrition and

  18. Epilepsy in Adults with TSC

    Science.gov (United States)

    ... Privacy Policy Sitemap Learn Engage Donate About TSC Epilepsy in Adults with TSC Individuals with tuberous sclerosis ... being well controlled for long periods of time. Epilepsy and Seizures Epilepsy is any brain disorder that ...

  19. Novel therapeutic approaches for disease-modification of epileptogenesis for curing epilepsy.

    Science.gov (United States)

    Clossen, Bryan L; Reddy, Doodipala Samba

    2017-06-01

    This article describes the recent advances in epileptogenesis and novel therapeutic approaches for the prevention of epilepsy, with a special emphasis on the pharmacological basis of disease-modification of epileptogenesis for curing epilepsy. Here we assess animal studies and human clinical trials of epilepsy spanning 1982-2016. Epilepsy arises from a number of neuronal factors that trigger epileptogenesis, which is the process by which a brain shifts from a normal physiologic state to an epileptic condition. The events precipitating these changes can be of diverse origin, including traumatic brain injury, cerebrovascular damage, infections, chemical neurotoxicity, and emergency seizure conditions such as status epilepticus. Expectedly, the molecular and system mechanisms responsible for epileptogenesis are not well defined or understood. To date, there is no approved therapy for the prevention of epilepsy. Epigenetic dysregulation, neuroinflammation, and neurodegeneration appear to trigger epileptogenesis. Targeted drugs are being identified that can truly prevent the development of epilepsy in at-risk people. The promising agents include rapamycin, COX-2 inhibitors, TRK inhibitors, epigenetic modulators, JAK-STAT inhibitors, and neurosteroids. Recent evidence suggests that neurosteroids may play a role in modulating epileptogenesis. A number of promising drugs are under investigation for the prevention or modification of epileptogenesis to halt the development of epilepsy. Some drugs in development appear rational for preventing epilepsy because they target the initial trigger or related signaling pathways as the brain becomes progressively more prone to seizures. Additional research into the target validity and clinical investigation is essential to make new frontiers in curing epilepsy. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Clinical features, proximate causes, and consequences of active convulsive epilepsy in Africa

    Science.gov (United States)

    Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian G R; Newton, Charles R J C

    2014-01-01

    Purpose Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. Methods We performed a detailed clinical and neurophysiologic description of ACE cases identified from a community survey of 584,586 people using medical history, neurologic examination, and electroencephalography (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya; and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Key Findings Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types, and neurologic deficits) were present in 58% of ACE cases, and these varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the most common drug [95%]), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; and acute encephalopathy (10%) and head injury prior to seizure onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%), and neurologic deficits (15%). The consequences of ACE were burns (16%), head injuries (postseizure) (1%), lack of education (43%), and being unmarried (67%) or unemployed (57%) in adults, all significantly more common than in those without epilepsy. Significance There were significant differences in the comorbidities across sites. Focal features are common in ACE, suggesting identifiable and

  1. Epilepsy after cerebral infection: review of the literature and the potential for surgery.

    Science.gov (United States)

    Ramantani, Georgia; Holthausen, Hans

    2017-06-01

    The risk of unprovoked seizures in population-based cohorts of cerebral infection survivors is 7-8% in developed countries, rising to considerably higher rates in resource-poor countries. The main risk factors for epilepsy after cerebral infection, besides acute seizures, are infection-associated brain lesions and status epilepticus during the acute phase. Despite the high prevalence of pharmacoresistant epilepsies after cerebral infections, especially in patients with MRI-identifiable lesions, only a small minority undergoes epilepsy surgery. However, excellent surgical candidates are particularly those with a history of meningitis or encephalitis in early childhood, hippocampal sclerosis on MRI, as well as a history, seizure semiology, and EEG-findings compatible with the diagnosis of a mesial temporal lobe epilepsy syndrome. More challenging are patients with neocortical/extratemporal lobe epilepsies post cerebral infection. Finally, patients with a severe hemispheric injury with contralateral hemiparesis are candidates for hemispherectomy/hemispherotomy. This review attempts to shed some light on this frequent cause of symptomatic focal epilepsy, with an emphasis on the chances offered by epilepsy surgery.

  2. Familial benign nonprogressive myoclonic epilepsies.

    Science.gov (United States)

    Striano, Pasquale; de Falco, Fabrizio A; Minetti, Carlo; Zara, Federico

    2009-05-01

    Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in correctly classifying epilepsies with myoclonic seizures. The existence of special familial epileptic syndromes primarily showing myoclonic features has been recently suggested on the basis of a clear pattern of inheritance or on the identification of new chromosomal genetic loci linked to the disease. These forms in development include familial infantile myoclonic epilepsy (FIME), benign adult familial myoclonic epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset myoclonic epilepsy (AME). In the future, the identification of responsible genes and the protein products will contribute to our understanding of the molecular pathways of epileptogenesis and provide neurobiologic criteria for the classification of epilepsies, beyond the different phenotypic expression.

  3. Managing Epilepsy in Pregnancy

    LENUS (Irish Health Repository)

    O Dwyer, V

    2017-02-01

    Epilepsy is one of the commonest medical conditions affecting women of childbearing age1. In the most recent triennial report into maternal deaths in Ireland and the UK, two thirds of women who died had a medical condition. In this report, 14 maternal deaths during pregnancy and up to 42 days postpartum were attributable to epilepsy or seizures; a rate of 0.4 per 100,000 maternities. In 12 of these women’ the cause was sudden unexplained death in epilepsy. Thus, epilepsy remains a high-risk condition in pregnancy. The gold standard of care is a multidisciplinary approach involving obstetricians, a neurologist and an epilepsy nurse specialist2. Like other units in Ireland this multidisciplinary service is currently provided in the National Maternity Hospital’s maternal medicine clinic, in conjunction with neurology services in Beaumont Hospital.

  4. Epilepsy surgery in children and adolescents with malformations of cortical development--outcome and impact of the new ILAE classification on focal cortical dysplasia.

    Science.gov (United States)

    Mühlebner, Angelika; Gröppel, Gudrun; Dressler, Anastasia; Reiter-Fink, Edith; Kasprian, Gregor; Prayer, Daniela; Dorfer, Christian; Czech, Thomas; Hainfellner, Johannes A; Coras, Roland; Blümcke, Ingmar; Feucht, Martha

    2014-11-01

    To determine long-term efficacy and safety of epilepsy surgery in children and adolescents with malformations of cortical development (MCD) and to identify differences in seizure outcome of the various MCD subgroups. Special focus was set on the newly introduced International League Against Epilepsy (ILAE) classification of focal cortical dysplasia (FCD). This is a single center retrospective cross-sectional analysis of prospectively collected data. age at surgery classification schemes (Barkovich et al., 2012. Brain. 135, 1348-1369; Palmini et al., 2004. Neurology. 62, S2-S8) and the ILAE classification for FCD recently proposed by Blümcke in 2011. Seizure outcome was classified using the ILAE classification proposed by Wieser in 2001. 60 Patients (51.7% male) were included. Follow up was up to 14 (mean 4.4 ± 3.2) years. Mean age at surgery was 8.0 ± 6.0 (median 6.0) years; mean age at epilepsy onset was 2.9 ± 3.2 (median 2.0) years; duration of epilepsy before surgery was 4.8 ± 4.4 (median 3.0) years. 80% of the patients were seizure free at last follow-up. AEDs were successfully withdrawn in 56.7% of all patients. Extended surgery, lesion localization in the temporal lobes and absence of inter-ictal spikes in postsurgical EEG recordings were predictive of favorable seizure outcomes after surgery. However, no association was found between outcome and MCD sub-types. Epilepsy surgery is highly effective in carefully selected drug-resistant children with MCD. Surrogate markers for complete resection of the epileptogenic zone remain the only significant predictors for seizure freedom after surgery. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Insomnia in epilepsy is associated with continuing seizures and worse quality of life.

    Science.gov (United States)

    Quigg, Mark; Gharai, Sean; Ruland, Jeff; Schroeder, Catherine; Hodges, Matthew; Ingersoll, Karen S; Thorndike, Frances P; Yan, Guofen; Ritterband, Lee M

    2016-05-01

    To evaluate how insomnia is associated with seizure control and quality of life in patients with epilepsy. Consecutive patients with epilepsy attending clinical visits were surveyed with the Insomnia Severity Index (ISI). Patients had to be treated with at least one anticonvulsant and could not have had documented psychogenic pseudoseizure. The presence or absence of seizures and quality of life (QOLIE-P-10) within the past 4 weeks was recorded. Other variables included demographic and clinical data, sleep-wake timing, the Hörne-Östberg Morningness-Eveningness Questionnaire (MEQ), sleepiness (Epworth Sleepiness Scale (ESS), and mood (Center for Epidemiologic Studies Depression Scale, CES-D). 207 patients completed surveys. 43% had clinically significant insomnia, and 51% had at least mild insomnia. 58% were seizure free. Mean ISI scores were significantly worse for those with continuing seizures, and more severe ISI scores correlated strongly with worse QOL. Younger age, shorter duration of epilepsy, use of sedative/hypnotics, medical and sleep comorbidities, delayed sleep timing and chronotype, excessive sleepiness, and depression were all associated with more severe insomnia. Those with unexpected health care visits over the most recent 4 weeks had worse insomnia. After adjustment for these covariates, more severe insomnia remained significantly associated with lack of seizure freedom and with worse QOL. Insomnia is common in epilepsy, and is associated with short term poor seizure control and worse QOL. Future studies must evaluate cause-and-effect relationships. Assessment of insomnia may be important in the comprehensive care of epilepsy and may influence control of epileptic seizures. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

    DEFF Research Database (Denmark)

    Klitten, Laura L; Møller, Rikke S; Nikanorova, Marina

    2011-01-01

    region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes...

  7. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy.

    Science.gov (United States)

    El Achkar, Christelle M; Spence, Sarah J

    2015-06-01

    The association between autism spectrum disorder (ASD) and epilepsy has been described for decades, and yet we still lack the full understanding of this relationship both clinically and at the pathophysiologic level. This review evaluates the available data in the literature pertaining to the clinical characteristics of patients with autism spectrum disorder who develop epilepsy and, conversely, patients with epilepsy who develop autism spectrum disorder. Many studies demonstrate an increased risk of epilepsy in individuals with ASD, but rates vary widely. This variability is likely secondary to the different study methods employed, including the study population and definitions of the disorders. Established risk factors for an increased risk of epilepsy in patients with ASD include intellectual disability and female gender. There is some evidence of an increased risk of epilepsy associated with other factors such as ASD etiology (syndromic), severity of autistic features, developmental regression, and family history. No one epilepsy syndrome or seizure type has been associated, although focal or localization-related seizures are often reported. The age at seizure onset can vary from infancy to adulthood with some evidence of a bimodal age distribution. The severity and intractability of epilepsy in populations with ASD have not been well studied, and there is very little investigation of the role that epilepsy plays in the autism behavioral phenotype. There is evidence of abnormal EEGs (especially epileptiform abnormalities) in children with ASD even in the absence of clinical seizures, but very little is known about this phenomenon and what it means. The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the ASD risk is greater in those with epilepsy than in the general population. One of the risk factors is intellectual disability, and there is some evidence that the presence of a particular seizure

  8. "It's good to know": experiences of gene identification and result disclosure in familial epilepsies.

    Science.gov (United States)

    Vears, Danya F; Dunn, Karen L; Wake, Samantha A; Scheffer, Ingrid E

    2015-05-01

    Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epilepsy syndromes. There is limited research investigating the impact of gene identification on individuals and families with epilepsy. While research has focused on the impact of delivering genetic information to families at the time of diagnosis in genetic diseases more broadly, little is known about how genetic results in epileptic diseases influences people's lives many years after it has been conveyed. This study used qualitative methods to explore the experience of receiving a genetic result in people with familial epilepsy. Interviews were conducted with individuals with familial epilepsies in whom the underlying genetic mutation had been identified. Recorded interviews underwent thematic analysis. 20 individuals from three families with different epilepsy syndromes and causative genes were interviewed. Multiple generations within families were studied. The mean time from receiving the genetic result prior to interview was 10.9 years (range 5-14 years). Three major themes were identified: 1) living with epilepsy: an individual's experience of the severity of epilepsy in their family influenced their view. 2) Clinical utility of the test: participants expressed varying reactions to receiving a genetic result. While for some it provided helpful information and relief, others were not surprised by the finding given the familial context. Some valued the use of genetic information for reproductive decision-making, particularly in the setting of severely affected family members. While altruistic reasons for participating in genetic research were discussed, participants emphasised the benefit of participation to them and their families. 3) 'Talking about the family genes': individuals reported poor communication between family members about their epilepsy and its genetic implications. The results provide important insights into the family

  9. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

    Science.gov (United States)

    Altmann, Andre; Botía, Juan A; Jahanshad, Neda; Hibar, Derrek P; Absil, Julie; Alhusaini, Saud; Alvim, Marina K M; Auvinen, Pia; Bartolini, Emanuele; Bergo, Felipe P G; Bernardes, Tauana; Blackmon, Karen; Braga, Barbara; Caligiuri, Maria Eugenia; Calvo, Anna; Carr, Sarah J; Chen, Jian; Chen, Shuai; Cherubini, Andrea; David, Philippe; Domin, Martin; Foley, Sonya; França, Wendy; Haaker, Gerrit; Isaev, Dmitry; Keller, Simon S; Kotikalapudi, Raviteja; Kowalczyk, Magdalena A; Kuzniecky, Ruben; Langner, Soenke; Lenge, Matteo; Leyden, Kelly M; Liu, Min; Loi, Richard Q; Martin, Pascal; Mascalchi, Mario; Morita, Marcia E; Pariente, Jose C; Rodríguez-Cruces, Raul; Rummel, Christian; Saavalainen, Taavi; Semmelroch, Mira K; Severino, Mariasavina; Thomas, Rhys H; Tondelli, Manuela; Tortora, Domenico; Vaudano, Anna Elisabetta; Vivash, Lucy; von Podewils, Felix; Wagner, Jan; Weber, Bernd; Yao, Yi; Yasuda, Clarissa L; Zhang, Guohao; Bargalló, Nuria; Bender, Benjamin; Bernasconi, Neda; Bernasconi, Andrea; Bernhardt, Boris C; Blümcke, Ingmar; Carlson, Chad; Cavalleri, Gianpiero L; Cendes, Fernando; Concha, Luis; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Doherty, Colin P; Focke, Niels K; Gambardella, Antonio; Guerrini, Renzo; Hamandi, Khalid; Jackson, Graeme D; Kälviäinen, Reetta; Kochunov, Peter; Kwan, Patrick; Labate, Angelo; McDonald, Carrie R; Meletti, Stefano; O'Brien, Terence J; Ourselin, Sebastien; Richardson, Mark P; Striano, Pasquale; Thesen, Thomas; Wiest, Roland; Zhang, Junsong; Vezzani, Annamaria; Ryten, Mina; Thompson, Paul M

    2018-01-01

    Abstract Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls. We ranked brain structures in order of greatest differences between patients and controls, by meta-analysing effect sizes across 16 subcortical and 68 cortical brain regions. We also tested effects of duration of disease, age at onset, and age-by-diagnosis interactions on structural measures. We observed widespread patterns of altered subcortical volume and reduced cortical grey matter thickness. Compared to controls, all epilepsy groups showed lower volume in the right thalamus (Cohen’s d = −0.24 to −0.73; P left, but not right, MTLE (d = −0.29 to −0.54; P right, but not left, MTLE (d = −0.27 to −0.51; P right MTLE groups (beta, b brain measures that can be further targeted for study in genetic and neuropathological studies. This worldwide initiative identifies patterns of shared grey matter reduction across epilepsy syndromes, and distinctive abnormalities between epilepsy syndromes, which inform our understanding of epilepsy as a network disorder, and indicate that certain epilepsy syndromes involve more widespread structural compromise than previously assumed. PMID:29365066

  10. [Causes of symptomatic epilepsy in two first years of life children hospitalized in 2006-2007 years].

    Science.gov (United States)

    Kroczka, Sławomir; Skowronek-Bała, Barbara; Zajac, Anna

    2008-01-01

    Epilepsy in two first years of life needs constant attention due to diagnostic and therapeutic difficulties. The aim of the study was to identify cause of symptomatic epilepsy in two first years of life children from miopolskie and podkarpackie provinces hospitalized in Pediatric Neurology Clinic of Children and Adolescents Neurology Cathedra UJ in Cracow. 102 children with epilepsy aged from 1 week to 24 months hospitalized between 1st of January 2006 and 31st of December 2007. The group included 47 girls and 55 boys. On the basis of clinical characteristics and results of additional examinations idiopathic epilepsy was diagnosed in 16/102 (13.3%) children and in remaining 86 (87.7%) symtopmatic epilepsy was established. Perinatal burdening was cause of epilepsy in 31/86 (33.72%) children. Other causes were identified in 32/54 children (59.3%) and in remaining 231 54 (40.7%) children the cause was not established. In 3/32 epilepsy occured in the course of hydrocephalus and in 3/32 children as one of CNS inflammation complications. Epilepsy as a result of vascular lesions and bleeding to CNS occured in 4 children. Multiple developmental deffects syndrome was diagnosed in 4 children and in 11 specific neurodevelopmental disorders were the cause of epilepsy. In 6 children epilepsy occured in the course of neurometabolic diseases, neurocutaneous syndromes and neoplasms. In children in two first years of life polimorphic seizures were diagnosed the most often (32/86 that is 37.2%) and tonic, tonic-clonic seizures were less often (21/86 that is 24.43%). Focal seizures occured in 20/86 (23.26%) patients, in 4/86 (4.65%) mioclonic jerks were observed and infantile spasms in 9/86 (10.46%). (1) In most hospitalized children in two first years of life symptomatic epilepsy was diagnosed. (2) Epilepsy in two first years of life was more often in boys. (3) The most often cause of symptomatic epilepsy was pathology of perinatal period. (4) Polymorphic seizures were the most

  11. Epilepsy and homicide

    Directory of Open Access Journals (Sweden)

    Pandya NS

    2013-05-01

    Full Text Available Neil S Pandya,1 Mirna Vrbancic,2 Lady Diana Ladino,3,4 José F Téllez-Zenteno31Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 2Department of Clinical Health Psychology, Royal University Hospital, Saskatoon, Saskatchewan, Canada; 3Division of Neurology, Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 4Department of Neurology, College of Medicine, University of Antioquia, Medellin, ColombiaPurpose: We report the rare case of a patient with intractable epilepsy and escalating aggression, resulting in murder, who had complete resolution of her seizures and explosive behavior following a right temporal lobectomy.Patients and methods: We searched the available literature from 1880 to 2013 for cases of epilepsy being used as a court defense for murder and collected information regarding the final sentencing outcomes. We selected 15 papers with a total of 50 homicides.Results: We describe the case of a 47-year-old woman with drug-resistant right temporal epilepsy who developed increasing emotional lability, outbursts of anger and escalating violent behavior culminating in a violent murder. The patient was imprisoned while awaiting trial. In the interim, she underwent a successful temporal lobectomy with full resolution of seizures, interictal rage and aggressive behaviors. After the surgery, her charges were downgraded and she was transferred to a psychiatric facility.Conclusion: The aggressive behavior associated with epilepsy has been described in the literature for over a century. A link between epilepsy and aggression has been disproportionally emphasized. These patients share some common characteristics: they are usually young men with a long history of epilepsy and lower than average intelligence. The violent act is postictal, sudden-onset, more likely to occur after a cluster of seizures and is usually related with alcohol abuse.Keywords: aggression, crime, epilepsy

  12. Citation classics in epilepsy

    Directory of Open Access Journals (Sweden)

    Maryann Wilson

    2013-01-01

    Full Text Available BACKGROUND: The impact of a scientific article is proportional to the citations it has received. In this study, we set out to identify the most cited works in epileptology in order to evaluate research trends in this field. METHODS: According to the Web of Science database, articles with more than 400 citations qualify as "citation classics". We conducted a literature search on the ISI Web of Science bibliometric database for scientific articles relevant to epilepsy. RESULTS: We retrieved 67 highly cited articles (400 or more citations, which were published in 31 journals: 17 clinical studies, 42 laboratory studies, 5 reviews and 3 classification articles. Clinical studies consisted of epidemiological analyses (n=3, studies on the clinical phenomenology of epilepsy (n=5 – including behavioral and prognostic aspects – and articles focusing on pharmacological (n=6 and non-pharmacological (n=3 treatment. The laboratory studies dealt with genetics (n=6, animal models (n=27, and neurobiology (n=9 – including both neurophysiology and neuropathology studies. The majority (61% of citation classics on epilepsy were published after 1986, possibly reflecting the expansion of research interest in laboratory studies driven by the development of new methodologies, specifically in the fields of genetics and animal models. Consequently, clinical studies were highly cited both before and after the mid 80s, whilst laboratory researches became widely cited after 1990. CONCLUSIONS: Our study indicates that the main drivers of scientific impact in the field of epileptology have increasingly become genetic and neurobiological studies, along with research on animal models of epilepsy. These articles are able to gain the highest numbers of citations in the time span of a few years and suggest potential directions for future research.

  13. The diagnostic accuracy of screening questionnaires for the identification of adults with epilepsy: a systematic review.

    Science.gov (United States)

    Keezer, Mark R; Bouma, Hanni K; Wolfson, Christina

    2014-11-01

    To describe the diagnostic accuracy of screening questionnaires to identify epilepsy in adults, we performed a systematic review of diagnostic studies that assessed the sensitivity and specificity of such screening questionnaires as compared to a physician's clinical assessment. We searched Ovid MEDLINE (1946 to present) and Ovid EMBASE (1947 to present) for studies that estimated the sensitivity and specificity of nonphysician administered screening questionnaires for adults with epilepsy. Both telephone and in-person administered questionnaires were included, whether applied to population or hospital/clinic-based cohorts. The risk of bias was assessed using the Quality Assessment of Diagnostic Studies-2 (QUADAS-2) tool. Our initial search strategy resulted in 917 records. We found nine studies eligible for inclusion. The estimated sensitivity and specificity of the questionnaires used to identify persons with a lifetime history of epilepsy ranged from 81.5% to 100% and 65.6% to 99.2%, respectively. The sensitivity and specificity of these questionnaires in identifying persons with active epilepsy ranged from 48.6% to 100% and 73.9% to 99.9%, respectively. Overall we found a high risk of bias in patient selection and study flow in the majority of studies. We identified nine validation studies of epilepsy screening questionnaires, summarized their study characteristics, presented their results, and performed a rigorous quality assessment. This review serves as a basis for future studies by providing a systematic review of existing work. Future research addressing previous limitations will ultimately allow us to more accurately estimate the burden and risk of epilepsy in the general population. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  14. Potentiation of mGlu5 receptors with the novel enhancer, VU0360172, reduces spontaneous absence seizures in WAG/Rij rats

    NARCIS (Netherlands)

    D'Amore, V.; Santolini, I.; Rijn, C.M. van; Biagioni, F.; Molinaro, G.; Prete, A.; Conn, P.J.; Lindsley, C.W.; Zhou, Y.; Vinson, P.N.; Rodriguez, A.L.; Jones, C.K.; Stauffer, S.R.; Nicoletti, F.; Luijtelaar, E.L.J.M. van; Ngomba, R.T.

    2013-01-01

    Absence epilepsy is generated by the cortico-thalamo-cortical network, which undergoes a finely tuned regulation by metabotropic glutamate (mGlu) receptors. We have shown previously that potentiation of mGlu1 receptors reduces spontaneous occurring spike and wave discharges (SWDs) in the WAG/Rij rat

  15. Epilepsy in Dostoevsky.

    Science.gov (United States)

    Iniesta, Ivan

    2013-01-01

    Fyodor M. Dostoevsky (Moscow, 1821-Saint Petersburg, 1881) suffered epilepsy throughout his whole literary career. The aim here is to understand his condition in light of his novels, correspondence, and his contemporaries' accounts as well as through the eyes of later generations of neurologists. From Murin (The landlady, 1847) to Smerdyakov (The brothers Karamazov, 1880), Dostoevsky portrayed up to six characters with epilepsy in his literature. The first symptoms of the disease presented in early adulthood, but he was only diagnosed with epilepsy a decade later. In 1863 he went abroad seeking expert advice from the famous neurologists Romberg and Trousseau. Dostoevsky made an intelligent use of epilepsy in his literature (of his experiential auras or dreamy states particularly) and through it found a way to freedom from perpetual military servitude. His case offers an insight into the natural history of epilepsy (a cryptogenic localization related one of either fronto-medial or temporal lobe origin using contemporary medical terms), thus inspiring later generations of writers and neurologists. Furthermore, it illustrates the good use of an ordinary neurological disorder by an extraordinary writer who transformed adversity into opportunity. © 2013 Elsevier B.V. All rights reserved.

  16. Epilepsy and neurocysticercosis in Latin America: a systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Elisa Bruno

    Full Text Available The difference in epilepsy burden existing among populations in tropical regions has been attributed to many factors, including the distribution of infectious diseases with neurologic sequels. To define the burden of epilepsy in Latin American Countries (LAC and to investigate the strength of association with neurocysticercosis (NCC, considered one of the leading causes of epilepsy, we performed a systematic review and meta-analysis of the literature.Studies published until 2012 were selected applying predefined inclusion criteria. Lifetime epilepsy (LTE prevalence, active epilepsy (AE prevalence, incidence, mortality, treatment gap (TG and NCC proportion among people with epilepsy (PWE were extracted. Median values were obtained for each estimate using random effects meta-analysis. The impact of NCC prevalence on epilepsy estimates was determined using meta-regression models. To assess the association between NCC and epilepsy, a further meta-analysis was performed on case-control studies.The median LTE prevalence was 15.8/1,000 (95% CI 13.5-18.3, the median AE prevalence was 10.7/1,000 (95% CI 8.4-13.2, the median incidence was 138.2/100,000 (95% CI 83.6-206.4, the overall standardized mortality ratio was 1.4 (95% CI 0.01-6.1 and the overall estimated TG was 60.6% (95% CI 45.3-74.9. The median NCC proportion among PWE was 32.3% (95% CI 26.0-39.0. Higher TG and NCC estimates were associated with higher epilepsy prevalence. The association between NCC and epilepsy was significant (p<0.001 with a common odds ratio of 2.8 (95% CI 1.9-4.0.A high burden of epilepsy and of NCC in LAC and a consistent association between these two diseases were pointed out. Furthermore, NCC prevalence and TG were identified as important factors influencing epilepsy prevalence to be considered in prevention and intervention strategies.

  17. Revised version of quality guidelines for presurgical epilepsy evaluation and surgical epilepsy therapy issued by the Austrian, German, and Swiss working group on presurgical epilepsy diagnosis and operative epilepsy treatment.

    Science.gov (United States)

    Rosenow, Felix; Bast, Thomas; Czech, Thomas; Feucht, Martha; Hans, Volkmar H; Helmstaedter, Christoph; Huppertz, Hans-Jürgen; Noachtar, Soheyl; Oltmanns, Frank; Polster, Tilman; Seeck, Margitta; Trinka, Eugen; Wagner, Kathrin; Strzelczyk, Adam

    2016-08-01

    The definition of minimal standards remains pivotal as a basis for a high standard of care and as a basis for staff allocation or reimbursement. Only limited publications are available regarding the required staffing or methodologic expertise in epilepsy centers. The executive board of the working group (WG) on presurgical epilepsy diagnosis and operative epilepsy treatment published the first guidelines in 2000 for Austria, Germany, and Switzerland. In 2014, revised guidelines were published and the WG decided to publish an unaltered English translation in this report. Because epilepsy surgery is an elective procedure, quality standards are particularly high. As detailed in the first edition of these guidelines, quality control relates to seven different domains: (1) establishing centers with a sufficient number of sufficiently and specifically trained personnel, (2) minimum technical standards and equipment, (3) continuous medical education of employees, (4) surveillance by trained personnel during video electroencephalography (EEG) monitoring (VEM), (5) systematic acquisition of clinical and outcome data, (6) the minimum number of preoperative evaluations and epilepsy surgery procedures, and (7) the cooperation of epilepsy centers. These standards required the certification of the different professions involved and minimum numbers of procedures. In the subsequent decade, quite a number of colleagues were certified by the trinational WG; therefore, the executive board of the WG decided in 2013 to make these standards obligatory. This revised version is particularly relevant given that the German procedure classification explicitly refers to the guidelines of the WG with regard to noninvasive/invasive preoperative video-EEG monitoring and invasive intraoperative diagnostics in epilepsy. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  18. Computer tomographic examinations in epilepsy

    International Nuclear Information System (INIS)

    De Villiers, J.F.K.

    1984-01-01

    Epileptic patients that was examined at the Universitas Hospital (Bloemfontein) by means of computerized tomography for the period July 1978 - December 1980, are divided into two groups: a) Patients with general epilepsy of convulsions - 507; b) Patients with vocal or partial epilepsy - 111. The method of examination and the results for both general and vocal epilepsy are discussed. A degenerative state was found in 35% of the positive computer tomographic examinations in general epilepsy and 22% of the positive examinations for vocal epilepsy. The purpose of the article was to explain the circumstances that can be expected when a epileptic patient is examined by means of computerized tomography

  19. Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone.

    Science.gov (United States)

    Anastasopoulou, Stavroula; Kurth, Florian; Luders, Eileen; Savic, Ivanka

    2017-01-01

    The definition of two well-studied genetic generalized epilepsy syndromes (GGE) - juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures alone (GTCS) - suggests the absence of structural cerebral abnormalities. Nevertheless, there are various reports of such abnormalities (especially in JME), where effects mainly occur within thalamus and mesial prefrontal regions. This raises the question of whether JME is particularly linked to midline structure abnormalities, which may also involve the corpus callosum. We studied callosal morphology in a well-matched sample of 22 JME patients, 15 GTCS patients, and 42 controls (CTL) for all of whom we obtained T1-weighted data on a 3T MRI scanner. More specifically, we measured callosal thickness at 100 equidistant points across the callosal surface, and subsequently compared the three groups (JME, GTCS, and CTL) against each other. Significant differences between JME patients and controls were observed within the callosal genu, anterior midbody, and isthmus, with thinner regions in JME patients. There were no significant differences between GTCS patients and controls, and also not between JME patients and GTCS patients. The present outcomes point to callosal abnormalities in JME patients suggesting an impairment of interhemisperic communication between prefrontal, motor, parietal and temporal cortices. These findings further support the notion that structural aberrations are present and differentiated across GGE syndromes, with significant callosal deviations from normality in JME. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Epilepsy and Mitochondrial Dysfunction

    Directory of Open Access Journals (Sweden)

    Russell P. Saneto DO, PhD

    2017-10-01

    Full Text Available Epilepsy is a common manifestation of mitochondrial disease. In a large cohort of children and adolescents with mitochondrial disease (n = 180, over 48% of patients developed seizures. The majority (68% of patients were younger than 3 years and medically intractable (90%. The electroencephalographic pattern of multiregional epileptiform discharges over the left and right hemisphere with background slowing occurred in 62%. The epilepsy syndrome, infantile spasms, was seen in 17%. Polymerase γ mutations were the most common genetic etiology of seizures, representing Alpers-Huttenlocher syndrome (14%. The severity of disease in those patients with epilepsy was significant, as 13% of patients experienced early death. Simply the loss of energy production cannot explain the development of seizures or all patients with mitochondrial dysfunction would have epilepsy. Until the various aspects of mitochondrial physiology that are involved in proper brain development are understood, epilepsy and its treatment will remain unsatisfactory.

  1. Barriers to access to education for young people with epilepsy in Northern Tanzania: A qualitative interview and focus group study involving teachers, parents and young people with epilepsy.

    Science.gov (United States)

    Quereshi, Charlotte; Standing, Holly C; Swai, Amina; Hunter, Ewan; Walker, Richard; Owens, Stephen

    2017-07-01

    Educational outcomes for young people with epilepsy (YPE) in Hai District, Tanzania, are poor, as is commonly observed elsewhere in Sub-Saharan Africa. The reasons for this finding are not well understood, though stigma arising from supernatural concepts of epilepsy is frequently cited as a barrier to YPE accessing education. In this study, we aimed to explore the reasons why many YPE in Tanzania experience poor access to education, and elicit ways in which education could be improved for YPE according to teachers, parents and YPE. Ten focus group discussions with teachers were organized in Hai schools between March and May 2016. The themes arising from these discussions were identified, coded, analyzed and tested in semi-structured interviews with 19 YPE and 17 parents identified from a prevalent cohort of YPE identified in 2009. Behavioral problems and learning difficulties were cited as the main barriers to education for YPE. Other barriers included parental stigmatization, teachers' inadequate seizure management, and limited access to specialist schools. Teachers perceived that parents and YPE believe in spiritual etiology and traditional management for epilepsy. However, the majority of teachers, parents, and YPE cited biological etiology and management options, although understanding of epilepsy etiology and management could be improved amongst all groups. A multidimensional approach is needed to improve educational access, and hence outcomes, for YPE. Widespread community education is needed to improve knowledge of epilepsy etiology and management. Teachers require seizure management training, and parents need help to recognize YPE's right to education. Educational needs assessments would help to identify YPE requiring specialist schooling, and access to this could be improved. These interventions will likely reduce stigma, ensure appropriate academic and pastoral care at school, and thus enable YPE to attend, and succeed, in education. Copyright © 2017

  2. Knowledge, attitudes, and practices among mothers of children with epilepsy: A study in a teaching hospital.

    Science.gov (United States)

    Kolahi, Ali-Asghar; Abbasi-Kangevari, Mohsen; Bakhshaei, Pouya; Mahvelati-Shamsabadi, Farhad; Tonekaboni, Seyed-Hassan; Farsar, Ahmad-Reza

    2017-04-01

    Knowledge about epilepsy and attitudes towards patients with epilepsy can affect measures taken to manage epilepsy and seizures. Support and understanding of mothers is invaluable in enabling children with epilepsy to develop normal life skills in living with epilepsy. In order to identify the educational needs of mothers of children with epilepsy, their knowledge, attitudes, and practices should be assessed. Therefore, we interviewed a group of mothers of children with epilepsy who were referred to a pediatric neurology clinic in a teaching hospital. The objective of this study was to assess knowledge, attitudes, and practices among mothers of children with epilepsy in order to identify their educational needs. In the period of August 2014 to January 2015, mothers whose children were diagnosed with epilepsy for at least six months participated in this cross sectional study, while returning to the neurology clinic of a pediatric hospital for usual follow-up. Data were collected through face-to-face interviews, held by trained female general practitioners. The interviewer used questions from a questionnaire. The knowledge section of the questionnaire included questions regarding prevalence and general knowledge about epilepsy, its etiology, symptoms, and seizure provoking factors. The attitudes section included statements regarding the mother's attitudes towards epilepsy and patients with the disease. The practice section included questions about first-aid measures taken by mothers who had witnessed generalized seizures by the time of interview. Responses of 206 participants were analyzed. At least 83% of mothers knew that epilepsy is a noncontagious neurological disorder which can be treated by regular drug therapy. In spite of demonstrating good knowledge scores, the majority of mothers felt the need for further training in epilepsy. More than 98% of mothers were against the idea that patients with epilepsy should hide their disease. Though having been referred to

  3. Rationale for treating epilepsy in children

    NARCIS (Netherlands)

    Guerrini, R; Arzimanoglou, A; Brouwer, O

    2002-01-01

    Growing evidence indicates that the effects of antiepileptic drugs on childhood epilepsies are partly linked to the specific type of epilepsy or epilepsy syndrome. Most (but not all) types of epilepsy can be classified into categories that are conceptually meaningful. It is likewise logical to set

  4. The extratemporal lobe epilepsies in the epilepsy monitoring unit

    Science.gov (United States)

    Dash, Deepa; Tripathi, Manjari

    2014-01-01

    Extratemporal lobe epilepsies (ETLE) are characterized by the epileptogenic foci outside the temporal lobe. They have a wide spectrum of semiological presentation depending upon the site of origin. They can arise from frontal, parietal, occipital lobes and from hypothalamic hamartoma. We discuss in this review the semiology of different types of ETLE encountered in the epilepsy monitoring unit. PMID:24791090

  5. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.

    Science.gov (United States)

    Jeong, Anna; Wong, Michael

    2016-09-01

    Epilepsy is one of the most disabling symptoms of tuberous sclerosis complex (TSC) and is a leading cause of morbidity and mortality in affected individuals. The relationship between systemic disease manifestations and the presence of epilepsy has not been thoroughly investigated. This study utilizes a multicenter TSC Natural History Database including 1,816 individuals to test the hypothesis that systemic disease manifestations of TSC are associated with epilepsy. Univariate analysis was used to identify patient characteristics (e.g., age, gender, race, and TSC mutation status) associated with the presence of epilepsy. Individual logistic regression models were built to examine the association between epilepsy and each candidate systemic or neurologic disease variable, controlling for the patient characteristics found to be significant on univariate analysis. Finally, a multivariable logistic regression model was constructed, using the variables found to be significant on the individual analyses as well as the patient characteristics that were significant on univariate analysis. Nearly 88% of our cohort had a history of epilepsy. After adjusting for age, gender, and TSC mutation status, multiple systemic disease manifestations including cardiac rhabdomyomas (odds ratio [OR] 2.3, 95% confidence interval [CI] 1.3-3.9, p = 0.002), retinal hamartomas (OR 2.1, CI 1.0-4.3, p = 0.04), renal cysts (OR 2.1, CI 1.3-3.4, p = 0.002), renal angiomyolipomas (OR 3.0, CI 1.8-5.1, p epilepsy. In the multivariable logistic regression model, cardiac rhabdomyomas (OR 1.9, CI 1.0-3.5, p = 0.04) remained significantly associated with the presence of epilepsy. The identification of systemic disease manifestations such as cardiac rhabdomyomas that confer a higher risk of epilepsy development in TSC could contribute to disease prognostication and assist in the identification of individuals who may receive maximal benefit from potentially novel, targeted, preventative therapies. Wiley

  6. 38 CFR 4.122 - Psychomotor epilepsy.

    Science.gov (United States)

    2010-07-01

    ... of a chronic mental disorder associated with psychomotor epilepsy, like those of the seizures, are... Psychomotor epilepsy. The term psychomotor epilepsy refers to a condition that is characterized by seizures... psychomotor epilepsy vary from patient to patient and in the same patient from seizure to seizure. (b) A...

  7. Art and epilepsy surgery.

    Science.gov (United States)

    Ladino, Lady Diana; Hunter, Gary; Téllez-Zenteno, José Francisco

    2013-10-01

    The impact of health and disease has led many artists to depict these themes for thousands of years. Specifically, epilepsy has been the subject of many famous works, likely because of the dramatic and misunderstood nature of the clinical presentation. It often evokes religious and even mythical processes. Epilepsy surgical treatment has revolutionized the care of selected patients and is a relatively recent advance. Epilepsy surgery has been depicted in very few artistic works. The first portrait showing a potential surgical treatment for patients with epilepsy was painted in the 12th century. During the Renaissance, Bosch famously provided artistic commentary on traditional beliefs in "The stone of madness". Several of these works demonstrate a surgeon extracting a stone from a patient's head, at one time believed to be the source of all "folly", including epileptic seizures, psychosis, intellectual disability, depression, and a variety of other illnesses. There are some contemporary art pieces including themes around epilepsy surgery, all of them depicting ancient Inca Empire procedures such as trepanning. This article reviews the most relevant artistic works related with epilepsy surgery and also its historical context at the time the work was produced. We also present a painting from the Mexican artist Eduardo Urbano Merino that represents the patient's journey through refractory epilepsy, investigations, and ultimately recovery. Through this work, the artist intends to communicate hope and reassurance to patients going through this difficult process. © 2013.

  8. Introduction-Pediatric epilepsy surgery techniques.

    Science.gov (United States)

    Rydenhag, Bertil; Cukiert, Arthur

    2017-04-01

    This supplement includes the proceedings from the Pediatric Epilepsy Surgery Techniques Meeting held in Gothenburg (July 4-5, 2014), which focused on presentations and discussions regarding specific surgical technical issues in pediatric epilepsy surgery. Pediatric epilepsy neurosurgeons from all over the world were present and active in very fruitful and live presentations and discussions. These articles represent a synopsis of the areas and subjects dealt with there. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  9. Understanding of Epilepsy by Children and Young People with Epilepsy

    Science.gov (United States)

    Lewis, Ann; Parsons, Sarah

    2008-01-01

    There is a striking dearth of studies focusing sensitively and in depth on the mainstream educational experiences of children with epilepsy, as viewed by those children themselves. The one-year project (2006-7) reported here addresses that gap. Children's perceptions about mainstream teachers' understanding of epilepsy and school-based needs are…

  10. Diagnostic imaging in focal epilepsy

    International Nuclear Information System (INIS)

    Zlatareva, D.

    2013-01-01

    Focal epilepsies account for 60% of all seizure disorders worldwide. In this review the classic and new classification system of epileptic seizures and syndromes as well as genetic forms are discussed. Magnetic resonance (MR) is the technique of choice for diagnostic imaging in focal epilepsy because of its sensitivity and high tissue contrast. The review is focused on the lack of consensus of imaging protocols and reported findings in refractory epilepsy. The most frequently encountered MRI findings in epilepsy are reported and their imaging characteristics are depicted. Diagnosis of hippocampal sclerosis and malformations of cortical development as two major causes of refractory focal epilepsy is described in details. Some promising new techniques as positron emission tomography computed tomography (PET/CT) and MR and PET/CT fusion are briefly discussed. Also the relevance of adequate imaging in focal epilepsy, some practical points in imaging interpretation and differential diagnosis are highlighted. (author)

  11. The challenges that parents of children with epilepsy face

    DEFF Research Database (Denmark)

    Kampra, Matina; Tzerakis, Nikolas; Thomsen, Louise Lund Holm

    2017-01-01

    , parents/caregivers found that they needed more education about the existing sources of psychosocial and emotional support to cope with their child's epilepsy personally and as a family. Finally, the parents/caregivers who let their child know about the epilepsy and discussed the implications......Objective This qualitative study explored the challenges that Greek parents/caregivers of children with controlled epilepsy (CwE) face regarding the disorder. Methods Interviews were conducted based on open-ended questions guided by a review of the literature. A total of 91 parents/caregivers were...... recruited by neurologists at the neurology clinics of two Athens public hospitals. A hermeneutic phenomenological approach was used to explore parent/caregiver experiences. The data were grouped and analyzed through a textual interpretation. Results Two key challenges were identified for parents of Cw...

  12. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

    Science.gov (United States)

    Striano, Pasquale; Coppola, Antonietta; Paravidino, Roberta; Malacarne, Michela; Gimelli, Stefania; Robbiano, Angela; Traverso, Monica; Pezzella, Marianna; Belcastro, Vincenzo; Bianchi, Amedeo; Elia, Maurizio; Falace, Antonio; Gazzerro, Elisabetta; Ferlazzo, Edoardo; Freri, Elena; Galasso, Roberta; Gobbi, Giuseppe; Molinatto, Cristina; Cavani, Simona; Zuffardi, Orsetta; Striano, Salvatore; Ferrero, Giovanni Battista; Silengo, Margherita; Cavaliere, Maria Luigia; Benelli, Matteo; Magi, Alberto; Piccione, Maria; Dagna Bricarelli, Franca; Coviello, Domenico A; Fichera, Marco; Minetti, Carlo; Zara, Federico

    2012-03-01

    To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Prospective cohort study. Epilepsy centers in Italy. Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Identification of copy number variations (CNVs) and gene enrichment. Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = .03) and showed higher gene content (P = .02) than those in control subjects. The CNVs larger than 1 megabase (P = .002) and including more than 10 genes (P = .005) occurred more frequently in patients than in control subjects. Nine patients (34.6%) among those harboring rare CNVs showed rearrangements associated with emerging microdeletion or microduplication syndromes. Mental retardation and neuropsychiatric features were associated with rare CNVs (P = .004), whereas epilepsy type was not. The CNV rate in patients with epilepsy and mental retardation or neuropsychiatric features is not different from that observed in patients with mental retardation only. Moreover, significant enrichment of genes involved in ion transport was observed within CNVs identified in patients with epilepsy. Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features. The limited overlap between CNVs observed in the epilepsy group and those observed in the group with mental retardation only as well as the involvement of specific (ion channel) genes indicate a specific association between the identified CNVs and epilepsy. Screening for CNVs should be performed for diagnostic purposes preferentially in patients with epilepsy and mental retardation or

  13. Up-regulated BAFF and BAFF receptor expression in patients with intractable temporal lobe epilepsy and a pilocarpine-induced epilepsy rat model.

    Science.gov (United States)

    Ma, Limin; Li, Ruohan; Huang, Hao; Yuan, Jinxian; Ou, Shu; Xu, Tao; Yu, Xinyuan; Liu, Xi; Chen, Yangmei

    2017-05-01

    Some studies have suggested that BAFF and BAFFR are highly expressed in the central nervous system (CNS) and participate in inflammatory and immune associated diseases. However, whether BAFF and BAFFR are involved in the pathogenesis of epilepsy remains unknown. This study aimed to investigate the expression of BAFF and BAFFR proteins in the brains of patients with temporal lobe epilepsy (TLE) and in a pilocarpine-induced rat model of TLE to identify possible roles of the BAFF-BAFFR signaling pathway in epileptogenesis. Real-time quantitative polymerase chain reaction (RT-qPCR), western blot, immunohistochemistry, and double-immunofluorescence were performed in this study. The results showed that BAFF and BAFFR expression levels were markedly up-regulated in intractable TLE patients and TLE rats. Moreover, BAFF and BAFFR proteins mainly highly expressed in the membranes and cytoplasms of the dendritic marker MAP2 in the cortex and hippocampus. Therefore, the significant increased in BAFF and BAFFR protein expression in both TLE patients and rats suggest that BAFF and BAFFR may play important roles in regulating the pathogenesis of epilepsy. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  14. International Veterinary Epilepsy Task Force consensus report on epilepsy definition, classification and terminology in companion animals

    DEFF Research Database (Denmark)

    Berendt, Mette; Farquhar, Robyn G; Mandigers, Paul J J

    2015-01-01

    the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human...... neurologists and neuroscientists, practitioners, neuropharmacologists and neuropathologists. This has led to an unfortunate situation where different veterinary publications and textbook chapters on epilepsy merely reflect individual author preferences with respect to terminology, which can be confusing...... to the readers and influence the definition and diagnosis of epilepsy in first line practice and research studies.In this document the International Veterinary Epilepsy Task Force (IVETF) discusses current understanding of canine epilepsy and presents our 2015 proposal for terminology and classification...

  15. Electroconvulsive therapy and subsequent epilepsy in patients with affective disorders

    DEFF Research Database (Denmark)

    Bøg, Fie Krossdal; Jørgensen, Martin Balslev; Andersen, Zorana Jovanovic

    2018-01-01

    and antipsychotic medication use. RESULTS: A total of 5875 patients had at least one ECT and 1873 patients developed epilepsy (Incidence rate: 213 pr. 100,000 person years) during the follow-up of mean 5 years. In patients below age 40 years, ECT was associated with a higher rate of epilepsy after adjustment...... epilepsy in patients with affective disorder. We also explored whether any association varied with number of ECTs and time since last treatment. METHODS: All 169,457 patients with first hospital contact for an affective disorder between January 2005 and December 2015 were identified in the Danish National...... for covariables (Hazard Ratio (HR) = 1.84; 95% Confidence Intervals (CI) = [1.24-2.74]). In patients aged 41-60 years ECT was not associated with epilepsy, while for those above 60 treated with ECT the rate was lower (HR = 0.57; (95% CI = [0.37-0.89]). CONCLUSION: In patients with affective disorders, we found...

  16. Rational management of epilepsy.

    Science.gov (United States)

    Viswanathan, Venkataraman

    2014-09-01

    Management of epilepsies in children has improved considerably over the last decade, all over the world due to the advances seen in the understanding of the patho-physiology of epileptogenesis, availability of both structural and functional imaging studies along with better quality EEG/video-EEG recordings and the availability of a plethora of newer anti-epileptic drugs which are tailormade to act on specific pathways. In spite of this, there is still a long way to go before one is able to be absolutely rational about which drug to use for which type of epilepsy. There have been a lot of advances in the area of epilepsy surgery and is certainly gaining ground for specific cases. Better understanding of the genetic basis of epilepsies will hopefully lead to a more rational treatment plan in the future. Also, a lot of work needs to be done to dispel various misunderstandings and myths about epilepsy which still exists in our country.

  17. ADHD in idiopathic epilepsy

    Directory of Open Access Journals (Sweden)

    Marcos H. C. Duran

    2014-01-01

    Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  18. Self-concept and gender effects in Korean adolescents with epilepsy.

    Science.gov (United States)

    Lee, Sang-Ahm; Choi, Eun-Ju; Kwon, Soonhak; Eom, Soyong

    2016-08-01

    We aimed to determine whether adolescents with epilepsy (AWE) have a compromised self-concept, whether a lower self-concept is related to mental health, and whether there are sex differences in self-concept in AWE. A total of 179 AWE and 259 control adolescents without epilepsy participated in this cross-sectional, multicenter study. Self-concept was measured using the Harter's Self-Perception Profile for Children. Depressive symptoms and anxiety were assessed by the Hospital Anxiety Depression Scale (HADS). A group-by-sex interaction was evaluated using an analysis of covariance controlling for age. Adolescents with epilepsy had a lower level of self-concept, especially in domains of behavioral conduct (partial eta(2): 0.257) and social acceptance (partial eta(2): 0.116), than controls (pself-concept did not differ by sex in the group with epilepsy. A group-by-sex interaction effect was found on social acceptance (p=0.042). Unlike the control group, age was not correlated with self-concept in AWE. Physical appearance was negatively correlated with HADS-anxiety scores (r=-0.291, pself-concept, especially in the domains of behavioral conduct and social acceptance, than controls. Sex differences in self-concept were identified in the control group but not in the group with epilepsy. Physical appearance was negatively correlated with anxiety in girls with epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. [Epilepsy, cognition and ketogenic diet].

    Science.gov (United States)

    Garcia-Penas, J J

    2018-03-01

    Most individuals with epilepsy will respond to pharmacologic treatment; however, approximately 20-30% will develop medically refractory epilepsy. Cognitive side effects of antiepileptic drugs are common and can negatively affect tolerability, compliance, and long-term retention of the treatment. Ketogenic diet is an effective and well-tolerated treatment for these children with refractory epilepsy without any negative effect on cognition or behavior. To review the current state of experimental and clinical data concerning the neuroprotective and cognitive effects of the ketogenic diet in both humans and animals. In different animal models, with or without epilepsy, the ketogenic diet seems to have neuroprotective and mood-stabilizing effects. In the observational studies in pediatric epilepsy, improvements during treatment with the ketogenic diet are reported in behavior and cognitive function, particularly with respect to attention, alertness, activity level, socialization, and sleep quality. One randomized controlled trial in patients with pediatric refractory epilepsy showed a mood and cognitive activation during ketogenic diet treatment. Ketogenic diet shows a positive impact on behavioral and cognitive functioning in children and adolescents with refractory epilepsy. More specifically, an improvement is observed in mood, sustained attention, and social interaction.

  20. Intrathecal immunoglobulin synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic').

    Science.gov (United States)

    Fauser, S; Soellner, C; Bien, C G; Tumani, H

    2017-09-01

    To compare the frequency of intrathecal immunoglobulin (Ig) synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic'). Patients with epileptic (n = 301) and non-epileptic (n = 10) seizures were retrospectively screened for autochthonous intrathecal Ig synthesis and oligoclonal bands (OCBs) in the cerebrospinal fluid. Intrathecal IgG/OCBs were detected in 8% of patients with epilepsies of unknown etiology, 5% of patients with first seizures of unknown cause and 0-4% of patients with epilepsy due to brain tumors, cerebrovascular disease or other etiologies. Intrathecal IgG/OCBs were not seen in patients with psychogenic seizures. Identical OCBs in serum and cerebrospinal fluid were more common in all patient groups (10-40% depending on underlying etiology). Intrathecal IgG synthesis/OCBs were observed slightly more frequently in patients with 'cryptogenic' epilepsy and with first seizures of unknown etiology than in other patient groups. However, this remained an infrequent finding and thus we could not confirm humoral immunity as a leading disease mechanism in patients with epilepsy in general or with unknown etiology in particular. © 2017 EAN.

  1. Confronting the stigma of epilepsy

    Directory of Open Access Journals (Sweden)

    Sanjeev V Thomas

    2011-01-01

    Full Text Available Stigma and resultant psychosocial issues are major hurdles that people with epilepsy confront in their daily life. People with epilepsy, particularly women, living in economically weak countries are often ill equipped to handle the stigma that they experience at multiple levels. This paper offers a systematic review of the research on stigma from sociology and social psychology and details how stigma linked to epilepsy or similar conditions can result in stereotyping, prejudice and discrimination. We also briefly discuss the strategies that are most commonly utilized to mitigate stigma. Neurologists and other health care providers, social workers, support groups and policy makers working with epilepsy need to have a deep understanding of the social and cultural perceptions of epilepsy and the related stigma. It is necessary that societies establish unique determinants of stigma and set up appropriate strategies to mitigate stigma and facilitate the complete inclusion of people with epilepsy as well as mitigating any existing discrimination.

  2. Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

    DEFF Research Database (Denmark)

    Baumgart, A.; von Spiczak, S.; Verhoeven-Duif, N. M.

    2014-01-01

    ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B-6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes........ We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without...

  3. Genetics of Severe Early Onset Epilepsies

    Science.gov (United States)

    2017-08-24

    Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

  4. Stigma of People with Epilepsy in China: Views of health professionals, teachers, employers and community leaders

    Science.gov (United States)

    Yang, Rongrong; Wang, Wenzhi; Snape, Dee; Chen, Gong; Zhang, Lei; Wu, Jianzhong; Baker, Gus A; Zheng, Xiaoying; Jacoby, Ann

    2011-01-01

    To identify the possible sources of stigma of epilepsy in key informant groups, “mini-ethnographic” studies were conducted in rural and urban locations in China. Data from 45 semi-structured interviews and 8 focus group discussions (6 persons each) were analysed to investigate the world experienced by people with epilepsy. Underpinned by a social constructionist approach to data analysis, emerging themes were identified with the use of computer-assisted data analysis (NVivo 8). A hierarchical model was then constructed, to include: Practical Level issues: attitudes to risk, attitudes towards costs of epilepsy; and Cultural Level issues: the contrast between rurality and tradition and urbanization and modernity in the Chinese context. The analysis enriches current research on factors and sources of stigma of epilepsy and highlights issues for future practice. PMID:21606005

  5. New onset epilepsy in Prader-Willi syndrome: semiology and literature review.

    Science.gov (United States)

    Benson, Leslie A; Maski, Kiran P; Kothare, Sanjeev V; Bourgeois, Blaise F

    2010-10-01

    Prader-Willi syndrome is a chromosomal disorder caused by absence of expression of the paternal active genes in the 15q11∼q13 chromosome region; it is associated with an increased incidence of epilepsy and narcolepsy. Presented here is the case of a 2.5-year-old boy with Prader-Willi syndrome and a history of neonatal superior sagittal sinus thrombosis with new onset of atonic seizures with electrographic onset from the parasagittal region. It is postulated that microscarring from neonatal venous sinus thrombosis, history of febrile seizures, and Prader-Willi syndrome are factors predisposing him to epilepsy. The importance of video electroencephalography with electromyography electrodes is emphasized for Prader-Willi syndrome patients with drop episodes, to differentiate cataplexy from seizures. This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on seizure semiology among patients with Prader-Willi syndrome is reviewed. Copyright © 2010 Elsevier Inc. All rights reserved.

  6. Top 100 cited articles on epilepsy and status epilepticus: A bibliometric analysis.

    Science.gov (United States)

    Park, Kang Min; Kim, Sung Eun; Lee, Byung In; Kim, Hyung Chan; Yoon, Dae Young; Song, Hong Ki; Bae, Jong Seok

    2017-08-01

    The purpose of this study is to identify the top 100-cited articles dedicated to epilepsy and status epilepticus published in journals from January, 1950 through February, 2016 that have made key contributions in the field. We performed a search of journals and selected the top 100-cited articles on epilepsy and status epilepticus, respectively, by utilizing the Institute for Scientific Information database available under the banner of the Web of Science. The top-cited articles on epilepsy and status epilepticus were all published in 24 journals, respectively. In both fields of epilepsy and status epilepticus, the most frequently cited journal was Epilepsia (26 articles on epilepsy and 19 articles on status epilepticus). The 100 most-cited articles in the field of both epilepsy and status epilepticus mainly originated from institutions in the United States of America. The articles on epilepsy included 25 laboratory studies, 15 pharmacotherapy studies, 13 general review studies, 12 surgery studies, 11 neuroimaging studies, eight epidemiology studies, eight neuropsychiatry studies, six genetic studies, and two electrophysiology studies, whereas 41 laboratory studies, 21 epidemiology studies, 16 pharmacotherapy studies, nine electrophysiology studies, nine general review studies, and four neuroimaging studies were included in the field of status epilepticus. We demonstrate that neuroimaging, genetics, and surgery are emerging topics in the field of epilepsy over the past decades. Moreover, we found that the majority of top-cited articles on epilepsy and status epilepticus originated from institutions in the United States of America and most were published in Epilepsia. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Photoacoustic Imaging of Epilepsy

    Science.gov (United States)

    2014-04-01

    using simulation and phantom experiments; (4) To test and validate the PAT system using a well established animal model of temporal lobe epilepsy ...and evaluation (3) Software Development (4) Animal experiments (5) Rat Model of Temporal Lobe Epilepsy (6) Analysis of the images from the in vivo...details please see the progress report of the third year of the project. 5. Rat Model of Temporal Lobe Epilepsy (Task 6) During months 37-48 of this

  8. Neurological autoantibodies in drug-resistant epilepsy of unknown cause.

    Science.gov (United States)

    Tecellioglu, Mehmet; Kamisli, Ozden; Kamisli, Suat; Yucel, Fatma Ebru; Ozcan, Cemal

    2018-03-09

    Autoimmune epilepsy is a rarely diagnosed condition. Recognition of the underlying autoimmune condition is important, as these patients can be resistant to antiepileptic drugs. To determine the autoimmune and oncological antibodies in adult drug-resistant epilepsy of unknown cause and identify the clinical, radiological, and EEG findings associated with these antibodies according to data in the literature. Eighty-two patients with drug-resistant epilepsy of unknown cause were prospectively identified. Clinical features were recorded. The levels of anti-voltage-gated potassium channel complex (anti-VGKCc), anti-thyroid peroxidase (anti-TPO), anti-nuclear antibody (ANA), anti-glutamic acid decarboxylase (anti-GAD), anti-phospholipid IgG and IgM, anti-cardiolipin IgG and IgM, and onconeural antibodies were determined. Serum antibody positivity suggesting the potential role of autoimmunity in the aetiology was present in 17 patients with resistant epilepsy (22.0%). Multiple antibodies were found in two patients (2.6%). One of these patients (1.3%) had anti-VGKCc and ANA, whereas another (1.3%) had anti-VGKCc and anti-TPO. A single antibody was present in 15 patients (19.5%). Of the 77 patients finally included in the study, 4 had anti-TPO (5.2%), 1 had anti-GAD (1.3%), 4 had anti-VGKCc (5.2%) 8 had ANA (10.3%), and 2 had onconeural antibodies (2.6%) (1 patient had anti-Yo and 1 had anti-MA2/TA). The other antibodies investigated were not detected. EEG abnormality (focal), focal seizure incidence, and frequent seizures were more common in antibody-positive patients. Autoimmune factors may be aetiologically relevant in patients with drug-resistant epilepsy of unknown cause, especially if focal seizures are present together with focal EEG abnormality and frequent seizures.

  9. [Tropical causes of epilepsy].

    Science.gov (United States)

    Carod-Artal, F J

    Eighty-five percent of all epileptics live in tropical regions. Prenatal risk factors, traumatic brain injuries and different parasitic infestations of the central nervous system (CNS) are the reasons behind the high prevalence of epilepsy. This work reviews the main parasitic infestations causing epilepsy in the tropics. Neurocysticercosis is the main cause of focal epilepsy in early adulthood in endemic areas (30-50%). All the phases of cysticerci (viable, transitional and calcified) are associated with epileptic seizures. Anti-cysticercus treatment helps get rid of cysticerci faster and reduces the risk of recurrence of seizures in patients with viable cysts. Symptomatic epilepsy can be the first manifestation of neuroschistosomiasis in patients without any systemic symptoms. The pseudotumoral form can trigger seizures secondary to the presence of granulomas and oedemas in the cerebral cortex. The eggs of Schistosoma japonicum are smaller, reach the CNS more easily and trigger epileptic seizures more frequently. Toxocariasis and sparganosis are other parasitic infestations that can give rise to symptomatic seizures. The risk factors for suffering chronic epilepsy after cerebral malaria are a positive familial history of epilepsy and a history of episodes of fever and cerebral malaria that began with coma or which progressed with multiple, prolonged epileptic seizures. About 20% of patients with cerebral infarction secondary to Chagas disease present late vascular epilepsy as a complication. Very few studies have been conducted to examine the prognosis, risk of recurrence and modification of the natural course of seizures associated with tropical parasitic infestations, except for the case of neurocysticercosis.

  10. Seizure outcome after AED failure in pediatric focal epilepsy: impact of underlying etiology.

    Science.gov (United States)

    Wirrell, Elaine C; Wong-Kisiel, Lily C; Nickels, Katherine C

    2014-05-01

    This study aimed to identify long-term seizure outcome in pediatric nonsyndromic focal epilepsy after failure of serial antiepileptic drugs (AEDs) due to lack of efficacy. Children (1 month-17 years) with new-onset focal epilepsy not meeting the criteria for a defined electroclinical syndrome diagnosed between 1980 and 2009 while residing in Olmsted County, MN, were retrospectively identified. Medical records of those followed for ≥2 years were reviewed to assess etiology, the number of AEDs that failed due to lack of efficacy, and seizure outcome at final follow-up. Etiology was classified into structural/metabolic, genetic, or unknown. Favorable outcome was defined as seizure freedom ≥1 year, on or off AEDs, without prior epilepsy surgery. Poor outcome was defined as ongoing seizures in the preceding year or having undergone prior epilepsy surgery. Nonsyndromic focal epilepsy accounted for 275/468 (59%) of all patients with newly diagnosed epilepsy--of these, 256 (93%) were followed for a minimum of two years and were included in the study. Median duration of follow-up was 10.0 years. At least one AED had failed due to lack of efficacy in 100 (39.1%) children. Favorable outcomes occurred in 149/156 (95.5%) children with no AED failure, 16/30 (53.3%) with one AED failure, 8/25 (32%) with two AED failures, and only 2/45 (4.4%) with three AED failures. After two AED failures, the seizures of nearly one-quarter of children who had epilepsy with an unknown cause responded favorably to the third AED compared with only 7.8% of the cohort that had epilepsy with a structural/metabolic cause. Children with a remote brain insult had a significantly higher likelihood of favorable outcome with serial AEDs than those with other structural abnormalities. Etiology is an important determinant of pharmacoresistance in nonsyndromic focal epilepsy. Surgical evaluation should be considered after failure of 1-2 AEDs in those who have epilepsy with structural causes, excluding

  11. Neuro-pharmacological functional MRI of epilepsy

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    Kiriyama, Hideki; Makabe, Tetsuo; Tomita, Susumu; Omoto, Takashi; Asari, Shoji [Okayama Univ. (Japan). School of Medicine; Aihara, Hiroshi; Kinugasa, Kazushi; Nishimoto, Akira; Ito, Takahiko

    2000-03-01

    We studied patients with epilepsy by neuro-pharmacological functional MRI technique using diazepam. Five normal volunteers and 7 patients with epilepsy were investigated. MRI was performed by a 1.5 T unit (SIGNA Horizon, GE) using the following parameters: TR/TE 5000 msec/80 msec, FA 90 deg, FOV 200 mm, matrix 128 x 128, slice thickness 7 mm. We performed MRI scanning over 5 minutes (2 minutes before and 3 minutes after injection of diazepam) for each 1 session; we scanned 3 sessions for each patient at intervals of 5 minutes. The diazepam was injected rapidly from the antecubital vein. The dose of diazepam was 0.05 mg/kg/injection (total dose was 0.15 mg/kg). The data were analyzed statistically using t-test. Signal change after administration of diazepam was less than 1 to 2% in healthy volunteers. By contrast, in patient with epilepsy, the signal change was almost 3%, which was significantly greater than that of the normal area (p=0.01). The neuro-pharmacological functional MRI technique using diazepam might be a useful method to identify epileptic foci. (author)

  12. Neuro-pharmacological functional MRI of epilepsy

    International Nuclear Information System (INIS)

    Kiriyama, Hideki; Makabe, Tetsuo; Tomita, Susumu; Omoto, Takashi; Asari, Shoji; Aihara, Hiroshi; Kinugasa, Kazushi; Nishimoto, Akira; Ito, Takahiko

    2000-01-01

    We studied patients with epilepsy by neuro-pharmacological functional MRI technique using diazepam. Five normal volunteers and 7 patients with epilepsy were investigated. MRI was performed by a 1.5 T unit (SIGNA Horizon, GE) using the following parameters: TR/TE 5000 msec/80 msec, FA 90 deg, FOV 200 mm, matrix 128 x 128, slice thickness 7 mm. We performed MRI scanning over 5 minutes (2 minutes before and 3 minutes after injection of diazepam) for each 1 session; we scanned 3 sessions for each patient at intervals of 5 minutes. The diazepam was injected rapidly from the antecubital vein. The dose of diazepam was 0.05 mg/kg/injection (total dose was 0.15 mg/kg). The data were analyzed statistically using t-test. Signal change after administration of diazepam was less than 1 to 2% in healthy volunteers. By contrast, in patient with epilepsy, the signal change was almost 3%, which was significantly greater than that of the normal area (p=0.01). The neuro-pharmacological functional MRI technique using diazepam might be a useful method to identify epileptic foci. (author)

  13. Determinants of felt stigma in epilepsy.

    Science.gov (United States)

    Aydemir, N; Kaya, B; Yıldız, G; Öztura, I; Baklan, B

    2016-05-01

    The present study aimed to determine the level of felt stigma, overprotection, concealment, and concerns related to epilepsy in different life domains by using culturally-specific scales for Turkish individuals with epilepsy. Also, it aimed to detect relations among the study variables and to determine the variables which predict felt stigma. For this purpose, felt stigma scale, overprotection scale, concealment of epilepsy scale, and concerns of epilepsy scale were administered to two hundred adult persons with epilepsy (PWE). The results showed that almost half of the participants reported felt stigma, overprotection, concealment of epilepsy, concerns related to future occupation, and concerns related to social life. Almost all the study variables show correlations with each other. Concealment of epilepsy, concerns related to social life, and concerns related to future occupation were found as the predictors of felt stigma. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Epilepsy.

    Science.gov (United States)

    Rotenberg, Alexander

    2013-01-01

    Noninvasive brain stimulation, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), are emerging as realistic tools for seizure control. Numerous open-label trials and a few recent randomized controlled trials suggest the capacity of both techniques to suppress seizures. Additionally, specialized TMS protocols aimed to map cortical function and to measure cortical excitability may have realistic roles as diagnostic tools in epilepsy. As the prevalence of drug-resistant epilepsy has not changed in recent years, TMS and tDCS offer noninvasive and nonpharmacological options to improve control of intractable seizures. © 2013 Elsevier B.V. All rights reserved.

  15. Understanding Death in Children With Epilepsy.

    Science.gov (United States)

    Donner, Elizabeth J; Camfield, Peter; Brooks, Linda; Buchhalter, Jeffrey; Camfield, Carol; Loddenkemper, Tobias; Wirrell, Elaine

    2017-05-01

    Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurological disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP). SUDEP is relatively uncommon in childhood, but the risk increases if epilepsy persists into adulthood. Although the direct cause of SUDEP remains unknown, most often death follows a generalized convulsive seizure and the risk of SUDEP is strongly related to drug-resistant epilepsy and frequent generalized tonic-clonic seizures. The most effective SUDEP prevention strategy is to reduce the frequency of seizures, although a number of seizure detection devices are under development and in the future may prove to be useful for seizure detection for those at particularly high risk. There are distinct benefits for health care professionals to discuss mortality with the family soon after the diagnosis of epilepsy. An individual approach is appropriate. When a child with epilepsy dies, particularly if the death was unexpected, family grief may be profound. Physicians and other health care professionals have a critical role in supporting families that lose a child to epilepsy. This review will provide health care providers with information needed to discuss the risk of death in children with epilepsy and support families following a loss. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Correlation of EEG with neuropsychological status in children with epilepsy.

    Science.gov (United States)

    Hsu, David A; Rayer, Katherine; Jackson, Daren C; Stafstrom, Carl E; Hsu, Murielle; Ferrazzano, Peter A; Dabbs, Kevin; Worrell, Gregory A; Jones, Jana E; Hermann, Bruce P

    2016-02-01

    To determine correlations of the EEG frequency spectrum with neuropsychological status in children with idiopathic epilepsy. Forty-six children ages 8-18 years old with idiopathic epilepsy were retrospectively identified and analyzed for correlations between EEG spectra and neuropsychological status using multivariate linear regression. In addition, the theta/beta ratio, which has been suggested as a clinically useful EEG marker of attention-deficit hyperactivity disorder (ADHD), and an EEG spike count were calculated for each subject. Neuropsychological status was highly correlated with posterior alpha (8-15 Hz) EEG activity in a complex way, with both positive and negative correlations at lower and higher alpha frequency sub-bands for each cognitive task in a pattern that depends on the specific cognitive task. In addition, the theta/beta ratio was a specific but insensitive indicator of ADHD status in children with epilepsy; most children both with and without epilepsy have normal theta/beta ratios. The spike count showed no correlations with neuropsychological status. (1) The alpha rhythm may have at least two sub-bands which serve different purposes. (2) The theta/beta ratio is not a sensitive indicator of ADHD status in children with epilepsy. (3) The EEG frequency spectrum correlates more robustly with neuropsychological status than spike count analysis in children with idiopathic epilepsy. (1) The role of posterior alpha rhythms in cognition is complex and can be overlooked if EEG spectral resolution is too coarse or if neuropsychological status is assessed too narrowly. (2) ADHD in children with idiopathic epilepsy may involve different mechanisms from those in children without epilepsy. (3) Reliable correlations with neuropsychological status require longer EEG samples when using spike count analysis than when using frequency spectra. Copyright © 2015 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights

  17. Mortality and causes of death in children referred to a tertiary epilepsy center.

    Science.gov (United States)

    Grønborg, Sabine; Uldall, Peter

    2014-01-01

    Patients with epilepsy, including children, have an increased mortality rate when compared to the general population. Only few studies on causes of mortality in childhood epilepsy exist and pediatric SUDEP rate is under continuous discussion. To describe general mortality, incidence of sudden unexpected death in epilepsy (SUDEP), causes of death and age distribution in a pediatric epilepsy patient population. The study retrospectively examined the mortality and causes of death in 1974 patients with childhood-onset epilepsy at a tertiary epilepsy center in Denmark over a period of 9 years. Cases of death were identified through their unique civil registration number. Information from death certificates, autopsy reports and medical notes were collected. 2.2% (n = 43) of the patient cohort died during the study period. This includes 9 patients with SUDEP (8 SUDEP cases per 10,000 patient years). 9 patients died in the course of neurodegenerative disease and 28 children died of various causes. Epilepsy was considered drug resistant in more than 95% of the deceased patients, 90% were diagnosed with intellectual disability. Mortality of patients that underwent dietary epilepsy treatment was slightly higher than in the general cohort. There were no epilepsy-related deaths due to drowning. This study confirms that SUDEP must not be disregarded in the pediatric age group. The vast majority of SUDEP cases in this study displays numerous risk factors similar to those described in adult epilepsy patients. Including SUDEP, only 30% of the mortality was directly seizure related. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  18. Critical determinants of the epilepsy treatment gap: a cross-national analysis in resource-limited settings

    Science.gov (United States)

    Meyer, Ana-Claire L.; Dua, Tarun; Boscardin, John; Escarce, José J.; Saxena, Shekhar; Birbeck, Gretchen L.

    2013-01-01

    Purpose Epilepsy is one of the most common serious neurological disorders worldwide. Our objective was to determine which economic, healthcare, neurology and epilepsy specific resources were associated with untreated epilepsy in resource-constrained settings. Methods A systematic review of the literature identified community-based studies in resource-constrained settings that calculated the epilepsy treatment gap, the proportion with untreated epilepsy, from prevalent active epilepsy cases. Economic, healthcare, neurology and epilepsy specific resources were taken from existing datasets. Poisson regression models with jackknifed standard errors were used to create bivariate and multivariate models comparing the association between treatment status and economic and health resource indicators. Relative risks were reported. Key Findings Forty-seven studies of 8285 individuals from 24 countries met inclusion criteria. Bivariate analysis demonstrated that individuals residing in rural locations had significantly higher risks of untreated epilepsy [Relative Risk(RR)=1.63; 95% confidence interval(CI):1.26,2.11]. Significantly lower risks of untreated epilepsy were observed for higher physician density [RR=0.65, 95% CI:0.55,0.78], presence of a lay [RR=0.74, 95%CI:0.60,0.91] or professional association for epilepsy [RR=0.73, 95%CI:0.59,0.91], or post-graduate neurology training program [RR=0.67, 95%CI:0.55, 0.82]. In multivariate models, higher physician density maintained significant effects [RR=0.67; 95%CI:0.52,0.88]. Significance Even among resource-limited regions, people with epilepsy in countries with fewer economic, healthcare, neurology and epilepsy specific resources are more likely to have untreated epilepsy. Community-based epilepsy care programs have improved access to treatment but in order to decrease the epilepsy treatment gap, poverty and inequalities of healthcare, neurological and epilepsy resources must be dealt with at the local, national, and global

  19. The current treatment options for epilepsy

    International Nuclear Information System (INIS)

    Sykora, P.; Svecova, L.

    2014-01-01

    Epilepsy is the most prevalent chronic brain disease manifesting with epileptic seizures. Epilepsy itself is not one nosological entity, it rather includes several diseases with various etiology, clinics, course and therapy. Antiepileptic therapy aims seizure freedom without affecting psychical and physical functions. The therapy is in first line pharmacological. The choice of antiepileptic drug depends not only on the seizure phenomenology, but also on the respective type of epilepsy syndrome. Most patients achieve seizure freedom or at least significant seizure frequency reduction. In 20-30% of the patients is the pharmacotherapy ineffective. In these cases of refractory epilepsy therapeutical options include epilepsy surgery, vagal stimulation or ketogenic diet. Despite recent advances in the diagnostics and therapy, epilepsy remains a serious medical and social issue. (author)

  20. History of Neuropsychology Through Epilepsy Eyes

    Science.gov (United States)

    Loring, David W.

    2010-01-01

    In the 19th century, Hughlings Jackson relied on clinical history, seizure semiology, and the neurologic examination as methods for seizure localization to inform the first epilepsy surgeries. In the 20th century, psychological and neuropsychological tests were first employed as both diagnostic and prognostic measures. The contemporary practice of epilepsy evaluation and management includes neuropsychology as a critical component of epilepsy care and research, and epilepsy and neuropsychology have enjoyed a very special and synergistic relationship. This paper reviews how epilepsy has shaped the practice of neuropsychology as a clinical service by asking critical questions that only neuropsychologists were in a position to answer, and how clinical care of epilepsy patients has been significantly improved based on neuropsychology's unique contributions. PMID:20395259

  1. The causes of epilepsy: changing concepts of etiology of epilepsy over the past 150 years.

    Science.gov (United States)

    Shorvon, Simon D

    2011-06-01

    This paper provides a survey of the changing concepts of the etiology of epilepsy from 1860 to 2010, focusing on the first two 50-year periods and outlining more briefly major developments in the past 50 years. Among the concepts reviewed in the first 100 years are: the division between predisposing and exciting causes, idiopathic and genuine epilepsy, organic epilepsy, the concept of "cause" being equivalent to "causal mechanism," Russell Reynolds etiological classification, the neurological taint and theories of degeneration, the self-perpetuating nature of seizures, reflex theories of etiology, autointoxication, heredity and eugenics, epilepsy due to brain disorders, the role of EEG and of hippocampal sclerosis, psychological theories of causation, and the multifactorial view of epilepsy etiology. In the past 50 years, the major advances in studying causation in epilepsy have been: clinical biochemistry, neuroimaging, molecular genetics, studies of mechanisms of epilepsy, better statistical methodologies and classification. A number of general observations can be made: the identification of "cause" is not as simple as it might at first appear; progress in the study of causation has been often erratic and travelled up many cul-de-sacs; theories of causation are heavily influenced by societal influences and fashion, and is also heavily dependent on applied methodologies; the recently explored possibility that the underlying inherited mechanisms of epilepsy are shared with other neuropsychiatric conditions is in effect a reinvention of the concept of the neurological trait, and this has ethical and social implications. Considering and classifying cause in terms of causal mechanism, as was suggested by Hughlings Jackson, is an ultimate goal. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

  2. Predictors and Course of Medically Intractable Epilepsy in Young Children Presenting Before 36 Months of Age: A Retrospective, Population-Based Study

    Science.gov (United States)

    Wirrell, Elaine; Wong-Kisiel, Lily; Mandrekar, Jay; Nickels, Katherine

    2012-01-01

    Purpose To determine the prevalence and identify predictors of medical intractability in children presenting with epilepsy prior to 36 months of age, and to assess the impact of medical intractability on long-term mortality and intellectual function. Methods Children with newly-diagnosed epilepsy prior to 36 months between 1980–2009 while resident in Olmsted County, MN were identified. Medical records were reviewed to collect epilepsy specific variables and long-term outcome data. Medically intractable epilepsy was defined as either (1) seizures greater than every 6 months at final follow-up and failure of two or more antiepileptic drugs for lack of efficacy, or (2) having undergone epilepsy surgery after failure of two or more antiepileptic drugs. Key Findings One hundred and twenty seven children with new-onset epilepsy were identified and followed for a median of 78 months. Medically intractable seizures occurred in 35%, and significant predictors on multivariate analysis were age ≤12 months at diagnosis (odds ratio [OR] 6.76, 95% confidence interval [CI] 2.00, 22.84, p=0.002), developmental delay at initial diagnosis of epilepsy (OR 20.03, 95% CI 3.49, 114.83, p=0.0008 ), neuroimaging abnormality (OR 6.48, 95% CI 1.96, 21.40, p=0.002) and focal slowing on initial EEG (OR 5.33, 95% CI 1.14, 24.88, p=0.03). Medical intractability occurred early in the course in most children, being seen in 61% by one year, and 93% by five years after initial diagnosis. Mortality was higher (20% vs 0%, p<0.001) and intellectual outcome poorer (p<0.001) if epilepsy was medically intractable. Significance One third of children presenting with epilepsy before 36 months will be medically intractable and significant predictors are identified. Medically intractable epilepsy is associated with increased mortality risk and significant intellectual disability. PMID:22738069

  3. Validation of the PedsQL Epilepsy Module: A pediatric epilepsy-specific health-related quality of life measure.

    Science.gov (United States)

    Modi, Avani C; Junger, Katherine F; Mara, Constance A; Kellermann, Tanja; Barrett, Lauren; Wagner, Janelle; Mucci, Grace A; Bailey, Laurie; Almane, Dace; Guilfoyle, Shanna M; Urso, Lauryn; Hater, Brooke; Hustzi, Heather; Smith, Gigi; Herrmann, Bruce; Perry, M Scott; Zupanc, Mary; Varni, James W

    2017-11-01

    To validate a brief and reliable epilepsy-specific, health-related quality of life (HRQOL) measure in children with various seizure types, treatments, and demographic characteristics. This national validation study was conducted across five epilepsy centers in the United States. Youth 5-18 years and caregivers of youth 2-18 years diagnosed with epilepsy completed the PedsQL Epilepsy Module and additional questionnaires to establish reliability and validity of the epilepsy-specific HRQOL instrument. Demographic and medical data were collected through chart reviews. Factor analysis was conducted, and internal consistency (Cronbach's alphas), test-retest reliability, and construct validity were assessed. Questionnaires were analyzed from 430 children with epilepsy (M age = 9.9 years; range 2-18 years; 46% female; 62% white: non-Hispanic; 76% monotherapy, 54% active seizures) and their caregivers. The final PedsQL Epilepsy Module is a 29-item measure with five subscales (i.e., Impact, Cognitive, Sleep, Executive Functioning, and Mood/Behavior) with parallel child and caregiver reports. Internal consistency coefficients ranged from 0.70-0.94. Construct validity and convergence was demonstrated in several ways, including strong relationships with seizure outcomes, antiepileptic drug (AED) side effects, and well-established measures of executive, cognitive, and emotional/behavioral functioning. The PedsQL Epilepsy Module is a reliable measure of HRQOL with strong evidence of its validity across the epilepsy spectrum in both clinical and research settings. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  4. Why epilepsy challenges social life.

    Science.gov (United States)

    Steiger, Bettina K; Jokeit, Hennric

    2017-01-01

    Social bonds are at the center of our daily living and are an essential determinant of our quality of life. In people with epilepsy, numerous factors can impede cognitive and affective functions necessary for smooth social interactions. Psychological and psychiatric complications are common in epilepsy and may hinder the processing of social information. In addition, neuropsychological deficits such as slowed processing speed, memory loss or attentional difficulties may interfere with enjoyable reciprocity of social interactions. We consider societal, psychological, and neuropsychological aspects of social life with particular emphasis on socio-cognitive functions in temporal lobe epilepsy. Deficits in emotion recognition and theory of mind, two main aspects of social cognition, are frequently observed in individuals with mesial temporal lobe epilepsy. Results from behavioural studies targeting these functions will be presented with a focus on their relevance for patients' daily life. Furthermore, we will broach the issue of pitfalls in current diagnostic tools and potential directions for future research. By giving a broad overview of individual and interpersonal determinants of social functioning in epilepsy, we hope to provide a basis for future research to establish social cognition as a key component in the comprehensive assessment and care of those with epilepsy. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  5. Dysfunctional Brain Networking among Autonomic Regulatory Structures in Temporal Lobe Epilepsy Patients at High Risk of Sudden Unexpected Death in Epilepsy

    Directory of Open Access Journals (Sweden)

    Luke A. Allen

    2017-10-01

    correlates of autonomic disturbances in epilepsy and mechanisms involved in SUDEP. Furthermore, these findings represent possible objective biomarkers which could help to identify high-risk patients and enhance SUDEP risk stratification via the use of non-invasive neuroimaging, which would require validation in larger cohorts, with extension to patients with other epilepsies and subjects who succumb to SUDEP.

  6. Dysfunctional Brain Networking among Autonomic Regulatory Structures in Temporal Lobe Epilepsy Patients at High Risk of Sudden Unexpected Death in Epilepsy.

    Science.gov (United States)

    Allen, Luke A; Harper, Ronald M; Kumar, Rajesh; Guye, Maxime; Ogren, Jennifer A; Lhatoo, Samden D; Lemieux, Louis; Scott, Catherine A; Vos, Sjoerd B; Rani, Sandhya; Diehl, Beate

    2017-01-01

    and mechanisms involved in SUDEP. Furthermore, these findings represent possible objective biomarkers which could help to identify high-risk patients and enhance SUDEP risk stratification via the use of non-invasive neuroimaging, which would require validation in larger cohorts, with extension to patients with other epilepsies and subjects who succumb to SUDEP.

  7. Development of the PedsQL™ Epilepsy Module: Focus group and cognitive interviews.

    Science.gov (United States)

    Follansbee-Junger, Katherine W; Mann, Krista A; Guilfoyle, Shanna M; Morita, Diego A; Varni, James W; Modi, Avani C

    2016-09-01

    Youth with epilepsy have impaired health-related quality of life (HRQOL). Existing epilepsy-specific HRQOL measures are limited by not having parallel self- and parent-proxy versions, having a restricted age range, not being inclusive of children with developmental disabilities, or being too lengthy for use in a clinical setting. Generic HRQOL measures do not adequately capture the idiosyncrasies of epilepsy. The purpose of the present study was to develop items and content validity for the PedsQL™ Epilepsy Module. An iterative qualitative process of conducting focus group interviews with families of children with epilepsy, obtaining expert input, and conducting cognitive interviews and debriefing was utilized to develop empirically derived content for the instrument. Eleven health providers with expertise in pediatric epilepsy from across the country provided feedback on the conceptual model and content, including epileptologists, nurse practitioners, social workers, and psychologists. Ten pediatric patients (age 4-16years) with a diagnosis of epilepsy and 11 parents participated in focus groups. Thirteen pediatric patients (age 5-17years) and 17 parents participated in cognitive interviews. Focus groups, expert input, and cognitive debriefing resulted in 6 final domains including restrictions, seizure management, cognitive/executive functioning, social, sleep/fatigue, and mood/behavior. Patient self-report versions ranged from 30 to 33 items and parent proxy-report versions ranged from 26 to 33 items, with the toddler and young child versions having fewer items. Standardized qualitative methodology was employed to develop the items and content for the novel PedsQL™ Epilepsy Module. The PedsQL™ Epilepsy Module has the potential to enhance clinical decision-making in pediatric epilepsy by capturing and monitoring important patient-identified contributors to HRQOL. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Epilepsy prevalence, potential causes and social beliefs in Ebonyi State and Benue State, Nigeria.

    Science.gov (United States)

    Osakwe, Chijioke; Otte, Willem M; Alo, Chimhurumnanya

    2014-02-01

    Epilepsy is a common neurological disorder in Nigeria. Many individuals are affected in rural areas, although prevalence data is not available. In this study we aimed to establish the prevalence of epilepsy in a rural community in south-east Nigeria, a community suspected for having a high number of people living with epilepsy. We compared this with the prevalence in a nearby semi-urban community in north-central Nigeria. In both communities we identified potential causes of epilepsy and obtained information on the social beliefs regarding epilepsy. We used door-to-door surveys and focus group discussions. The epilepsy prevalence in the rural community was 20.8/1000 [95% confidence interval (CI): 15.7-27.4]. The prevalence in the semi-rural community was lower, namely 4.7/1000 [CI: 3.2-6.9]. The difference in prevalence was highly significant (χ(2)-test, pepilepsy were in the age range of 7-24 years. Causes that might be contributory to the prevalence of epilepsy in both communities included poor obstetric practices, frequent febrile convulsions, head trauma, meningitis and neurocysticercosis. In both communities we found stigma of people with epilepsy. In conclusion, the epilepsy prevalence in the semi-urban community is similar to that in industrialized countries. In contrast, the rural community has a much higher prevalence. This may require the establishment of specific community-based epilepsy control programs. Community interventions should focus on treatment of acute epilepsy and on stigma reduction. Copyright © 2013 Elsevier B.V. All rights reserved.

  9. Cause of death in patients with poststroke epilepsy: Results from a nationwide cohort study.

    Science.gov (United States)

    Hansen, Julia; Åsberg, Signild; Kumlien, Eva; Zelano, Johan

    2017-01-01

    The risk of death is increased for persons with epilepsy. The literature on causes of death in epilepsy is based mainly on cohorts with epilepsy of mixed aetiologies. For clinical purposes and improved understanding of mortality in different epilepsies, more information is needed on mortality in epilepsies of specific causes. In poststroke epilepsy (PSE), seizures occur in a setting of vascular disease and high mortality rates. The extent to which epilepsy contributes to mortality in this patient group is poorly understood. We therefore aimed to describe causes of death (COD) in PSE on a national scale. A previously identified cohort of 7740 patients with epilepsy or seizures after a stroke in 2005-2010 was investigated. A total of 4167 deaths occurred before the end of 2014. The standardized mortality ratio for the study cohort was 3.56 (95% CI: 3.45-3.67). The main underlying causes of death were disorders of the circulatory system (60%) followed by neoplasms (12%). Diseases of the nervous system were the sixth leading underlying COD (3%), and epilepsy or status epilepticus was considered the underlying COD in approximately a similar proportion of cases as neurodegenerative disorders (0.9% and 1.1%, respectively). Epilepsy was considered a contributing COD in 14% of cases. Our findings highlight the importance of optimal management of vascular morbidity in patients with PSE. The large proportion of patients with epilepsy as a contributing COD indicate the need of high ambitions also regarding the management of seizures in patients with PSE.

  10. Temporal plus epilepsy: Anatomo-electroclinical subtypes

    Science.gov (United States)

    Andrade-Machado, René; Benjumea-Cuartas, Vanessa

    2016-01-01

    Background: Mesial temporal lobe epilepsy (TLE) is a remediable epileptic syndrome. About 40% of patients continue to have seizures after standard temporal lobectomy. It has been suggested that some of these patients could actually suffer from a more complex epileptogenic network. Because a few papers have been dedicated to this topic, we decided to write an article updating this theme. Methods: We performed a literature search using the following terminology: “temporal plus epilepsy and networks,” “temporal plus epilepsy,” “orbito-temporal epilepsy,” “temporo-insular epilepsy,” “temporo-parieto-occipital (TPO) epilepsy,” “parieto-temporal epilepsy,” “intracortical evoked potential and temporal plus epilepsy,” “temporal lobe connectivity and epilepsy,” “intracortical evoked potential and epilepsy surgery,” “role of extratemporal structures in TLE,” “surgical failure after temporal lobectomy,” “Diffusion tensor imaging (DTI) and temporal epilepsy,” and “positron emission tomography (PET) in temporal plus lobe epilepsy” in the existing PubMed databases. We searched only English and Spanish literature. Only papers that fit with the above-mentioned descriptors were included as part of the evidence. Other articles were used to reference some aspects of the temporal plus epilepsy. Results: A total of 48 papers from 2334 were revised. The most frequently reported auras in these groups of patients are gustatory hallucinations, vestibular illusions, laryngeal and throat constriction, atypical distribution of somatosensory symptoms (perioral and hands, bilaterally hands paresthesias, trunk and other). The most common signs are tonic posturing, hemifacial twist, and frequent bilateral clonic movements. Interictal electroencephalographic (EEG) patterns exhibit regional and frequently bilateral spikes and/or slow waves. The first ictal electrographic change is mostly regional. It is important to note that the evidence is

  11. Genetics Home Reference: pyridoxine-dependent epilepsy

    Science.gov (United States)

    ... Home Health Conditions Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ...

  12. Epilepsy Surgery for Individuals with TSC

    Science.gov (United States)

    ... Privacy Policy Sitemap Learn Engage Donate About TSC Epilepsy Surgery for Individuals with TSC In this video ... Aria Fallah, MD, discusses the surgical treatment of epilepsy in children with tuberous sclerosis complex. Epilepsy is ...

  13. Complex single gene disorders and epilepsy.

    LENUS (Irish Health Repository)

    Merwick, Aine

    2012-09-01

    Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.

  14. [Modern aspects of epilepsy treatment].

    Science.gov (United States)

    Alajbegović, Azra; Kantardzić, Dzelaludin; Suljić, Enra; Alajbegović, Salem

    2003-01-01

    It is a general rule today, after a relevant diagnostics of an epilepsy, to start a monotherapy treatment, depending on a kind of a seizure, a life age and a general health condition. First line of monotherapy epilepsy drugs remain carbamazapine and sodium valproat. New drugs that are being introduced are: felbamat, gabapentin, lamotrigin, oxcarbazepin, tiagabin, topiramat, vigabatin and zanisamid. These are commonly used as add-on therapy, or as an addition for previously used antiepileptic. Their indicated areas are complex resistant partial seizures with or without generalization. Attention should be paid on proper dosage, interactions and toxicity. Regardless on the new epileptic era, according to reports of International League against epilepsy, most of the patients do not receive the drug that is the most appropriate for them concerning the price (cost-benefit). Neurosurgical methods in epilepsy treatment are: selective amygdalo-hyppocampotomy, temporal lobotomy, subpial resection, hemispherectomy, corpus callosotomy, removal of lesions like tumors or cysts provide encouraging results in reduction of epileptic seizures that can be followed by reduction of drug therapy. N. vagus stimulation is being wider introduced in resident epileptics. Treatment of epilepsy in women requires an approach to sexuality, conception, pregnancy, introduction of medicaments, antiepileptic terratogenity, contraception, motherhood and menopause. A special significance of modern approach to epilepsy is in treatment of elderly who have cerebrovascular and neurodegenerative disease as a cause of seizures. A complex treatment of epilepsy using pharmacological and neurosurgical approach requires supportive psychotherapy, socio-therapy, the work with a family, education about epilepsy and living a life with more quality having one.

  15. A systematic review of economic evaluations of treatments for patients with epilepsy.

    Science.gov (United States)

    Wijnen, Ben F M; van Mastrigt, Ghislaine A P G; Evers, Silvia M A A; Gershuni, Olga; Lambrechts, Danielle A J E; Majoie, Marian H J M; Postulart, Debby; Aldenkamp, Bert A P; de Kinderen, Reina J A

    2017-05-01

    The increasing number of treatment options and the high costs associated with epilepsy have fostered the development of economic evaluations in epilepsy. It is important to examine the availability and quality of these economic evaluations and to identify potential research gaps. As well as looking at both pharmacologic (antiepileptic drugs [AEDs]) and nonpharmacologic (e.g., epilepsy surgery, ketogenic diet, vagus nerve stimulation) therapies, this review examines the methodologic quality of the full economic evaluations included. Literature search was performed in MEDLINE, EMBASE, NHS Economic Evaluation Database (NHS EED), Econlit, Web of Science, and CEA Registry. In addition, Cochrane Reviews, Cochrane DARE and Cochrane Health Technology Assessment Databases were used. To identify relevant studies, predefined clinical search strategies were combined with a search filter designed to identify health economic studies. Specific search strategies were devised for the following topics: (1) AEDs, (2) patients with cognitive deficits, (3) elderly patients, (4) epilepsy surgery, (5) ketogenic diet, (6) vagus nerve stimulation, and (7) treatment of (non)convulsive status epilepticus. A total of 40 publications were included in this review, 29 (73%) of which were articles about pharmacologic interventions. Mean quality score of all articles on the Consensus Health Economic Criteria (CHEC)-extended was 81.8%, the lowest quality score being 21.05%, whereas five studies had a score of 100%. Looking at the Consolidated Health Economic Evaluation Reporting Standards (CHEERS), the average quality score was 77.0%, the lowest being 22.7%, and four studies rated as 100%. There was a substantial difference in methodology in all included articles, which hampered the attempt to combine information meaningfully. Overall, the methodologic quality was acceptable; however, some studies performed significantly worse than others. The heterogeneity between the studies stresses the need to

  16. Cognitive dysfunctions in occipital lobe epilepsy compared to temporal lobe epilepsy.

    Science.gov (United States)

    Santangelo, Gabriella; Trojano, Luigi; Vitale, Carmine; Improta, Ilaria; Alineri, Irma; Meo, Roberta; Bilo, Leonilda

    2017-06-01

    To compare cognitive profiles of occipital lobe epilepsy (OLE) and temporal lobe epilepsy (TLE) and to investigate whether impairment of visuospatial functions is a specific deficit of OLE. Eighteen patients with OLE, 18 patients with TLE, and 18 controls underwent a neuropsychological battery assessing memory, visuospatial functions, and frontal/executive functions. Multivariate analysis evidenced poorer performance of patients with TLE and patients with OLE relative to controls on tasks assessing verbal and non-verbal long-term memory, frontal functions, and visuospatial functions. Patients with OLE had poorer performance than patients with TLE on visuospatial tasks, whereas patients with TLE performed worse than patients with OLE on verbal long-term memory test. Discriminant analysis identified two canonical discriminant functions: The first explained 53.3% of the variance, and the second explained 46.7% of the variance. The first function included verbal and non-verbal memory tests distinguishing controls from both OLE and TLE, whereas the second factor including a visuoconstructional test distinguished OLE from TLE and controls. The results demonstrate that visuoconstructional dysfunction is related to OLE and support the idea that alterations of occipito-parietal stream may be specific to patients with OLE. © 2015 The British Psychological Society.

  17. Isolated amygdala enlargement in temporal lobe epilepsy: A systematic review.

    Science.gov (United States)

    Beh, S M Jessica; Cook, Mark J; D'Souza, Wendyl J

    2016-07-01

    The objective of this study was to compare the seizure characteristics and treatment outcomes in patient groups with temporal lobe epilepsy (TLE) identified with isolated amygdala enlargement (AE) on magnetic resonance imaging studies. PubMed, Embase, and the Cochrane Library were searched for relevant studies using the keywords 'amygdala enlargement', 'epilepsy', and 'seizures' in April 2015. Human studies, written in English, that investigated cohorts of patients with TLE and AE were included. Of 204 abstracts initially identified using the search strategy, 14 studies met the inclusion criteria (11 epilepsy studies and 3 psychiatry studies). Ultimately, 8 full studies on AE and TLE involving 107 unique patients were analyzed. Gender distribution consisted of 50 males and 57 females. Right amygdala enlargement was seen in 39 patients, left enlargement in 58 patients, and bilateral enlargement in 7 patients. Surgical resection was performed in 28 patients, with the most common finding being dysplasia/hamartoma or focal cortical dysplasia. Most studies involved small samples of less than 12 patients. There was a wide discrepancy in the methods used to measure amygdala volume, in both patients and controls, hindering comparisons. Most TLE with AE studies observed a later age of seizure onset (mean: 32.2years) compared with studies involving TLE with HS (mean of mid- to late childhood). A higher frequency of complex partial seizures compared with that of convulsive seizures is seen in patients with AE (67-100% vs. 26-47%), and they have an excellent response to antiepileptic drugs (81.8%-100% of seizure-free patients). All studies that included controls also found a significant difference in frequency of seizure types between their cases and controls. Reliable assessment of amygdala volume remains a critical issue hindering better understanding of the clinical management and research of this focal epilepsy syndrome. Within these limitations, the literature suggests

  18. The association between dementia and epilepsy: A systematic review and meta-analysis.

    Science.gov (United States)

    Subota, Ann; Pham, Tram; Jetté, Nathalie; Sauro, Khara; Lorenzetti, Diane; Holroyd-Leduc, Jayna

    2017-06-01

    Dementia is among the top 15 conditions with the most substantial increase in burden of disease in the past decade, and along with epilepsy, among the top 25 causes of years lived with disability worldwide. The epidemiology of dementia in persons with epilepsy, and vice versa, is not well characterized. The purpose of this systematic review was to examine the prevalence, incidence, and reported risk factors for dementia in epilepsy and epilepsy in dementia. Embase, PsycINFO, MEDLINE, and the Cochrane databases were searched from inception. Papers were included if they reported the incidence and/or prevalence of dementia and epilepsy. Two individuals independently performed duplicate abstract and full-text review, data extraction, and quality assessment. Random-effects models were used to generate pooled estimates when feasible. Of the 3,043 citations identified, 64 were reviewed in full text and 19 articles were included. The period prevalence of dementia ranged from 8.1 to 17.5 per 100 persons among persons with epilepsy (insufficient data to pool). The pooled period prevalence of epilepsy among persons with dementia was 5 per 100 persons (95% confidence interval [CI] 1-9) in population-based settings and 4 per 100 persons (95% CI 1-6) in clinic settings. There were insufficient data to report a pooled overall incidence rate and only limited data on risk factors. There are significant gaps in knowledge regarding the epidemiology of epilepsy in dementia and vice versa. Accurate estimates are needed to inform public health policy and prevention, and to understand health resource needs for these populations. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  19. Primary school teacher's knowledge and attitudes toward children with epilepsy.

    Science.gov (United States)

    Abulhamail, Albaraa S; Al-Sulami, Fahad E; Alnouri, Mouneeb A; Mahrous, Najeeb M; Joharji, Dima G; Albogami, Maha M; Jan, Mohammed M

    2014-04-01

    Primary school teacher's knowledge and attitudes toward epilepsy can have significant impact on the performance and psycho-social development of the child with epilepsy. Our objectives were to study teacher's knowledge and attitudes and identify areas in which further teacher training and education are required. A stratified random sample survey involving a group of primary school teachers in Jeddah, Saudi Arabia included private/public schools designated for male and female students. A structured 37-item questionnaire was used to examine their demographics, knowledge, attitudes, and experience with epilepsy. Six hundred and twenty primary school teachers working in public (58%) or private (42%) schools were included with ages ranging between 21 and 59 years (mean 36). Most teachers (79%) were of Saudi Arabian nationality and 66% had a college or university degree. Their years of experience ranged from 1 to 35 (mean 13.5). Only 17% of the teachers felt very well informed about epilepsy. Teachers with higher education were more likely to have good knowledge (p=0.009). Teachers of Saudi nationality were also more likely to report good knowledge, independent of their educational level (p=0.013). Overall, teachers with good knowledge were less likely to have negative attitudes including minding to have an epileptic child in their class (p=0.028) or thinking that they should be placed in a special classroom (p=0.029). Primary school teacher's knowledge about epilepsy needs improvements. Their attitudes correlated highly with their knowledge. Educational campaigns about epilepsy are needed to develop a well informed and tolerant community. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  20. Epilepsy, language, and social skills.

    Science.gov (United States)

    Caplan, Rochelle

    2017-10-04

    Language and social skills are essential for intrapersonal and interpersonal functioning and quality of life. Since epilepsy impacts these important domains of individuals' functioning, understanding the psychosocial and biological factors involved in the relationship among epilepsy, language, and social skills has important theoretical and clinical implications. This review first describes the psychosocial and biological factors involved in the association between language and social behavior in children and in adults and their relevance for epilepsy. It reviews the findings of studies of social skills and the few studies conducted on the inter-relationship of language and social skills in pediatric and adult epilepsy. The paper concludes with suggested future research and clinical directions that will enhance early identification and treatment of epilepsy patients at risk for impaired language and social skills. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Cognition in epilepsy: current clinical issues of interest.

    Science.gov (United States)

    Witt, Juri-Alexander; Helmstaedter, Christoph

    2017-04-01

    This review provides an update and summary of recent neuropsychological findings in epilepsy focusing on three major clinical topics among the many developments in the field. We will critically outline the current state with regard to cognition in new-onset epilepsies, social cognition in epilepsy, and the long-term outcome of epilepsy surgery and the cognitive outcomes of superselective surgical procedures. Current studies indicate that neuropsychological impairments are prevalent already at the onset of epilepsy and even before, social cognition (i.e., emotion recognition and theory of mind) is impaired in different epilepsy populations, the long-term outcome of epilepsy surgery is mostly characterized by a stable or even improved cognitive status, and superselective epilepsy surgeries are associated with a promising neuropsychological outcome. The high prevalence of cognitive deficits around epilepsy onset challenges the assumption that epilepsy is the major cause of cognitive problems and calls for early neuropsychological diagnostics. Social cognition seems to be a relevant domain that is not yet routinely considered in epilepsy. The cognitive long-term outcome of epilepsy surgery is mostly positive. Stereotactic thermocoagulation and gamma knife surgery appear to be cognitively safe procedures.

  2. A Functional-genetic Scheme for Seizure Forecasting in Canine Epilepsy.

    Science.gov (United States)

    Bou Assi, E; Nguyen, D K; Rihana, S; Sawan, M

    2017-09-13

    The objective of this work is the development of an accurate seizure forecasting algorithm that considers brain's functional connectivity for electrode selection. We start by proposing Kmeans-directed transfer function, an adaptive functional connectivity method intended for seizure onset zone localization in bilateral intracranial EEG recordings. Electrodes identified as seizure activity sources and sinks are then used to implement a seizure-forecasting algorithm on long-term continuous recordings in dogs with naturallyoccurring epilepsy. A precision-recall genetic algorithm is proposed for feature selection in line with a probabilistic support vector machine classifier. Epileptic activity generators were focal in all dogs confirming the diagnosis of focal epilepsy in these animals while sinks spanned both hemispheres in 2 of 3 dogs. Seizure forecasting results show performance improvement compared to previous studies, achieving average sensitivity of 84.82% and time in warning of 0.1. Achieved performances highlight the feasibility of seizure forecasting in canine epilepsy. The ability to improve seizure forecasting provides promise for the development of EEGtriggered closed-loop seizure intervention systems for ambulatory implantation in patients with refractory epilepsy.

  3. Correlates of health-related quality of life in children with drug resistant epilepsy.

    Science.gov (United States)

    Conway, Lauryn; Smith, Mary Lou; Ferro, Mark A; Speechley, Kathy N; Connoly, Mary B; Snead, O Carter; Widjaja, Elysa

    2016-08-01

    Health-related quality of life (HRQL) is compromised in children with epilepsy. The current study aimed to identify correlates of HRQL in children with drug resistant epilepsy. Data came from 115 children enrolled in the Impact of Pediatric Epilepsy Surgery on Health-Related Quality of Life Study (PEPSQOL), a multicenter prospective cohort study. Individual, clinical, and family factors were evaluated. HRQL was measured using the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE), a parent-rated epilepsy-specific instrument, with composite scores ranging from 0 to 100. A series of univariable linear regression analyses were conducted to identify significant associations with HRQL, followed by a multivariable regression analysis. Children had a mean age of 11.85 ± 3.81 years and 65 (56.5%) were male. The mean composite QOLCE score was 60.18 ± 16.69. Child age, sex, age at seizure onset, duration of epilepsy, caregiver age, caregiver education, and income were not significantly associated with HRQL. Univariable regression analyses revealed that a higher number of anti-seizure medications (p = 0.020), lower IQ (p = 0.002), greater seizure frequency (p = 0.048), caregiver unemployment (p = 0.010), higher caregiver depressive and anxiety symptoms (p < 0.001 for both), poorer family adaptation, fewer family resources, and a greater number of family demands (p < 0.001 for all) were associated with lower HRQL. Multivariable regression analysis showed that lower child IQ (β = 0.20, p = 0.004), fewer family resources (β = 0.43, p = 0.012), and caregiver unemployment (β = 6.53, p = 0.018) were associated with diminished HRQL in children. The results emphasize the importance of child cognition and family variables in the HRQL of children with drug-resistant epilepsy. The findings speak to the importance of offering comprehensive care to children and their families to address the nonmedical features that impact on HRQL. Wiley Periodicals, Inc. © 2016

  4. [Illness Experience of Married Korean Women with Epilepsy].

    Science.gov (United States)

    Shon, Young Min; Joung, Woo Joung

    2017-06-01

    The purpose of this study was to understand and describe the illness experience of married Korean women with epilepsy. Data were collected during 2015~2016 through individual in-depth interviews with 12 married women with epilepsy. Verbatim transcripts were analyzed using Giorgi's phenomenological analysis to uncover the meaning of the illness experience of the participants. The study results showed that the illness experience of married Korean women with epilepsy was clustered into a specific description of situated structure and a general description of situated structure. Six themes from 20 meaning units were identified: 1) Undermined self-esteem with stigma of being epileptic; 2) Limited social interaction; 3) Suffering sorrow as a 'disqualified being'; 4) Shuttling back and forth across the boundary between healthy and epileptic; 5) Desperate struggle to meet the expectation of given role; 6) Self-empowering through self-restriction and realization. The findings from this study show that both the enacted and felt stigma of epilepsy impact on the life of married Korean women with epilepsy. Although the participants face social and interpersonal restriction and prejudices, they try their best to fulfill their role rather than to be cared for as patients. As the stigma and hardships of the participants are related to lack of knowledge, health professionals should focus not just on clinical intervention but also on providing targeted educational programs and counseling for these women to dispel the stigma of the disease and to increase their quality of life. © 2017 Korean Society of Nursing Science

  5. A dyadic model of living with epilepsy based on the perspectives of adults with epilepsy and their support persons

    Science.gov (United States)

    Walker, Elizabeth Reisinger; Barmon, Christina; McGee, Robin E.; Engelhard, George; Sterk, Claire E.; DiIorio, Colleen; Thompson, Nancy J.

    2015-01-01

    Epilepsy is a chronic condition that significantly affects the lives of individuals with epilepsy and their support persons, though few studies have examined the experiences of both individuals. To examine these experiences and explore the interpersonal relationships between dyad members, we conducted in-depth interviews with 22 people with epilepsy and 16 support persons. Data analysis was guided by a grounded theory perspective. We developed a model that shows how epilepsy impacts the lives of both people with epilepsy and support persons and how the experiences of people with epilepsy and supporters influence one another. The core model elements were seizure and treatment factors, relationship characteristics, self-management, seizure control, support provided, illness intrusiveness, and quality of life. People with epilepsy moved through the model in five trajectories depending on seizure control, relationship type, and gender. Support providers followed four trajectories based on seizure control, perception of burden, and support for themselves. People with epilepsy and their primary support providers have varied experiences in how epilepsy affects their lives. This model could serve as a basis for future research and intervention efforts focused on ways to reduce illness intrusiveness and improve quality of life for people with epilepsy and their supporters. PMID:26515151

  6. [Economic aspects of epilepsy].

    Science.gov (United States)

    Argumosa, A; Herranz, J L

    2000-06-01

    The economic magnitude of epilepsy is determined by its effect on the employment status of the patients, the cost of drug treatment for them and the healthcare system and the repercussion worldwide. Studies of the cost of the disease show that it has economic importance due to the sum of the direct and indirect costs caused by it. In the case of epilepsy, the results of studies in various countries led to the creation of a Commission on Economic Aspects of Epilepsy. The lack of epidemiological studies regarding epilepsy in Spain may explain the lack of publications on this subject in our country. The percentage of the total cost due to antiepileptic drugs is considerable and will probably increase in the future. The pharmaco-economic evaluation made by cost-benefit, cost-effectiveness, cost-usefulness analysis and studies to minimize costs should serve to use healthcare resources in the most effective manner and justify the rational use of the new antiepileptic drugs. The economic impact of epilepsy is added to the repercussion of the disease itself on the patient and his family. The different distribution of costs in children and adults with epilepsy suggest the need for intervention at an early age to try to reduce the long term economic and personal repercussions. The pharmaco-economic evaluation of the new antiepileptic drugs will make it clear whether their considerable cost is worth paying for their greater effectivity.

  7. Parental Infertility, Fertility Treatment, and Childhood Epilepsy

    DEFF Research Database (Denmark)

    Kettner, Laura O; Ramlau-Hansen, Cecilia Høst; Kesmodel, Ulrik S

    2016-01-01

    . RESULTS: A total of 60 440 pregnancies were included, and 0.8% of the children developed epilepsy.The primary analyses showed no association between parental infertility or fertility treatment, and the overall risk of childhood epilepsy (hazard rate ratios (HRs); 95% confidence intervals (CIs): 1.08 (0......BACKGROUND: A few studies have indicated an increased risk of epilepsy in children conceived by fertility treatment possibly due to characteristics of the infertile couple rather than the treatment. We therefore aimed to investigate the association between parental infertility, fertility treatment......, and epilepsy in the offspring, including the subtypes of epilepsy; idiopathic generalised epilepsy and focal epilepsy. METHODS: This cohort included all pregnancies resulting in liveborn singletons from the Aarhus Birth Cohort, Denmark (1995-2013). Information on time to pregnancy and fertility treatment...

  8. Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

    Science.gov (United States)

    Mohamed, Inaam N; Elseed, Maha A; Hamed, Ahlam A; Abdel-Rahman, Manar E; El-Sadig, Sarah M; Omer, Ilham M; Osman, Abdelgadir H; Ahmed, Ammar E; Karrar, Zein A; Salih, Mustafa A

    2017-08-01

    Data on childhood epilepsy in Sudan are scarce and the only published study on its prevalence was published in 1983. This study aimed to determine the current prevalence of epilepsy in school children in Khartoum State. This is an analytical population-based, cross-sectional study conducted in Khartoum State, Sudan. The study included students in the basic (primary) schools aged 6-14 years. Simple random sampling was used to draw a cluster of four of the seven localities comprising Khartoum State. The sample frame consisted of 1609 public schools (808,624 pupils) and 787 private schools (194,613 pupils), a total of 2396 schools (1,003,237 pupils). A sample size of 75 940 pupils was estimated and 250 schools were drawn from a sample frame of 2396 schools using a stratified random sampling technique. Consent was obtained from the headmaster/head teacher of the selected schools who arranged a meeting with the tutor/teacher responsible for each class. The study team asked whether any of the pupils was ever noticed or known to have had any kind of seizures, and a confidential letter was sent to the parents of each identified pupil. The letter included an explanation of the aims of the study, information on the research group and the kind of help the research group could offer; contact numbers and email addresses were made available if they wished to participate in this study. Those who consented to participate were then given an appointment at the Epilepsy Outpatient Department, Gaafar Ibnauf Children's Hospital, Khartoum where they were evaluated by the paediatric neurologist. Altogether, 74,949 pupils were enrolled for the study, 398 of whom were identified initially as having seizures and 332 of whom (83.4%) were identified by a paediatric neurologist. Of the 332, 303 (91.3%) proved to have epileptic seizures, 250 (82.5%) were known to have epilepsy, and 53 (17.5%) were newly diagnosed during the survey. The male to female ratio was 1.5:1. The total prevalence of

  9. MR imaging findings in patients with epilepsy

    International Nuclear Information System (INIS)

    Honghan, Gong; Hiraishi, Kumiko; Matsuoka, Takae

    1994-01-01

    We retrospectively examined the MR imaging (MRI) findings in 144 patients with epilepsy (31 with temporal lobe epilepsy and 113 with other epilepsies). 110 cases (76.4%) showed abnormal findings such as spotty lesions in white matter, hippocampal atrophy and/or signal change, ventricular dilatation and/or deformity, developmental lesions, brain tumors and so on. Hippocampal atrophy and/or signal change was shown in 74.1% of temporal lobe epilepsy, a remarkably high percentage (p<0.01) compared with the other types of epilepsies (18.1%). This finding means that hippocampal lesions may play a large part in the cause of temporal lobe epilepsy. Investigation of the relationship between clinical term and abnormal findings revealed that the longer the clinical term, the large the number of hippocampal lesions, regardless of whether it is temporal lobe epilepsy or not. Thus hippocampal lesions may occur as a result of hypoxia accompanied with seizure. Therefore we recommend horizontal and/or vertical sections of hippocampus in MR imaging of all patients with epilepsy. Even though MR finding may reflect some secondary lesions, MRI will shed some light on the proper understanding of epilepsy. (author)

  10. Quantitative magnetic resonance imaging traits as endophenotypes for genetic mapping in epilepsy

    Directory of Open Access Journals (Sweden)

    Saud Alhusaini

    2016-01-01

    Full Text Available Over the last decade, the field of imaging genomics has combined high-throughput genotype data with quantitative magnetic resonance imaging (QMRI measures to identify genes associated with brain structure, cognition, and several brain-related disorders. Despite its successful application in different psychiatric and neurological disorders, the field has yet to be advanced in epilepsy. In this article we examine the relevance of imaging genomics for future genetic studies in epilepsy from three perspectives. First, we discuss prior genome-wide genetic mapping efforts in epilepsy, considering the possibility that some studies may have been constrained by inherent theoretical and methodological limitations of the genome-wide association study (GWAS method. Second, we offer a brief overview of the imaging genomics paradigm, from its original inception, to its role in the discovery of important risk genes in a number of brain-related disorders, and its successful application in large-scale multinational research networks. Third, we provide a comprehensive review of past studies that have explored the eligibility of brain QMRI traits as endophenotypes for epilepsy. While the breadth of studies exploring QMRI-derived endophenotypes in epilepsy remains narrow, robust syndrome-specific neuroanatomical QMRI traits have the potential to serve as accessible and relevant intermediate phenotypes for future genetic mapping efforts in epilepsy.

  11. Accelerated cognitive decline in a rodent model for temporal lobe epilepsy.

    Science.gov (United States)

    Schipper, Sandra; Aalbers, Marlien W; Rijkers, Kim; Lagiere, Melanie; Bogaarts, Jan G; Blokland, Arjan; Klinkenberg, Sylvia; Hoogland, Govert; Vles, Johan S H

    2016-12-01

    Cognitive impairment is frequently observed in patients with temporal lobe epilepsy. It is hypothesized that cumulative seizure exposure causes accelerated cognitive decline in patients with epilepsy. We investigated the influence of seizure frequency on cognitive decline in a rodent model for temporal lobe epilepsy. Neurobehavioral assessment was performed before and after surgery, after the induction of self-sustaining limbic status epilepticus (SSLSE), and in the chronic phase in which rats experienced recurrent seizures. Furthermore, we assessed potential confounders of memory performance. Rats showed a deficit in spatial working memory after the induction of the SSLSE, which endured in the chronic phase. A progressive decline in recognition memory developed in SSLSE rats. Confounding factors were absent. Seizure frequency and also the severity of the status epilepticus were not correlated with the severity of cognitive deficits. The effect of the seizure frequency on cognitive comorbidity in epilepsy has long been debated, possibly because of confounders such as antiepileptic medication and the heterogeneity of epileptic etiologies. In an animal model of temporal lobe epilepsy, we showed that a decrease in spatial working memory does not relate to the seizure frequency. This suggests for other mechanisms are responsible for memory decline and potentially a common pathophysiology of cognitive deterioration and the occurrence and development of epileptic seizures. Identifying this common denominator will allow development of more targeted interventions treating cognitive decline in patients with epilepsy. The treatment of interictal symptoms will increase the quality of life of many patients with epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Epilepsy after Febrile Seizures

    DEFF Research Database (Denmark)

    Seinfeld, S. A.; Pellock, J M; Kjeldsen, Lone Marianne Juel

    2016-01-01

    to evaluate genetic associations of different febrile seizure subtypes. Results Histories of febrile seizures were validated in 1051 twins in 900 pairs. The febrile seizure type was classified as simple, complex, or febrile status epilepticus. There were 61% simple, 12% complex, and 7% febrile status...... epilepticus. There were 78 twins who developed epilepsy. The highest rate of epilepsy (22.2%) occurred in the febrile status epilepticus group. Concordance was highest in simple group. Conclusion A twin with febrile status epilepticus is at the highest risk of developing epilepsy, but simple febrile seizures...

  13. The social and economic consequences of epilepsy

    DEFF Research Database (Denmark)

    Jennum, Poul; Gyllenborg, Jesper; Kjellberg, Jakob

    2011-01-01

    Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy.......Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy....

  14. Sleep and Epilepsy: Strange Bedfellows No More.

    Science.gov (United States)

    St Louis, Erik K

    2011-09-01

    Ancient philosophers and theologians believed that altered consciousness freed the mind to prophesy the future, equating sleep with seizures. Only recently has the bidirectional influences of epilepsy and sleep upon one another received more substantive analysis. This article reviews the complex and increasingly recognized interrelationships between sleep and epilepsy. NREM sleep differentially activates interictal epileptiform discharges during slow wave (N3) sleep, while ictal seizure events occur more frequently during light NREM stages N1 and N2. The most commonly encountered types of sleep-related epilepsies (those with preferential occurrence during sleep or following arousal) include frontal and temporal lobe partial epilepsies in adults, and benign epilepsy of childhood with centrotemporal spikes (benign rolandic epilepsy) and juvenile myoclonic epilepsy in children and adolescents. Comorbid sleep disorders are frequent in patients with epilepsy, particularly obstructive sleep apnea in refractory epilepsy patients which may aggravate seizure burden, while treatment with nasal continuous positive airway pressure often improves seizure frequency. Distinguishing nocturnal events such as NREM parasomnias (confusional arousals, sleep walking, and night terrors), REM parasomnias including REM sleep behavior disorder, and nocturnal seizures if frequently difficult and benefits from careful history taking and video-EEG-polysomnography in selected cases. Differentiating nocturnal seizures from primary sleep disorders is essential for determining appropriate therapy, and recognizing co-existent sleep disorders in patients with epilepsy may improve their seizure burden and quality of life.

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