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Sample records for absence epilepsy identifies

  1. Epilepsy with myoclonic absences.

    Science.gov (United States)

    Genton, Pierre; Bureau, Michelle

    2006-01-01

    Among the epileptic syndromes that are defined mainly on the basis of a characteristic seizure type, epilepsy with myoclonic absences (EMA) stands out as a somewhat controversial entity. This is because the sound and evident clinical characteristics on which it was identified some 30 years ago have evolved, mostly as a consequence of changes in the practical management of epilepsies and to the description of myoclonic components in a variety of other generalised epilepsies with absences. Myoclonic absences (MA) are described as typical absences with sudden onset and offset that are associated with generalised spike and wave (SW) discharges on the ECG, with distinctive traits. Clinically, absences are associated with axial hypertonia (the subject usually bends forward and slightly raises their shoulders and arms), and jerks synchronous with the SW discharges. Neurophysiologically, axial hypertonia and rhythmic jerks may be recorded on polygraphic surface electromyogram leads in association with the typical SW discharges; as such, despite an ECG, the diagnosis may be missed in the absence of video documentation of the seizure and/or adequate polygraphy. MA need to be distinguished from absences with other types of prominent myoclonic accompaniment (perioral, eyelid, limbs).The prognosis of EMA remains variable. Modern therapeutic combinations, such as valproic acid and ethosuximide, or valproic acid and lamotrigine, are usually effective; however, in a proportion of patients, seizures are resistant to drug treatment. These patients may experience cognitive deterioration and, in some cases, evolution towards a more severe form of epilepsy, including the Lennox-Gastaut syndrome. The more benign cases usually present with MA as the only seizure type, while patients who experience other seizures, especially generalised tonic-clonic seizures, in association with MA may have a less favourable outcome.

  2. Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.

    Directory of Open Access Journals (Sweden)

    Han Xie

    Full Text Available Recently many genetic mutations that are associated with epilepsy have been identified. The protein NIPA2 (non-imprinted in Prader-Willi/Angelman syndrome region protein 2 is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S and p.N334_E335insD within a population of patients with childhood absence epilepsy (CAE. In this study, immunofluorescence labeling, inductively coupled plasma-optical emission spectroscopy (ICP-OES, MTT metabolic rate detection and computational modeling were utilized to elucidate how these mutations result in CAE. We found in cultured neurons that NIPA2 (wild-type proteins were localized to the cell periphery, whereas mutant proteins were not effectively trafficked to the cell membrane. Furthermore, we found a decrease in intracellular magnesium concentration in the neurons transfected with mutant NIPA2, but no effect on the survival of neurons. To understand how low intracellular magnesium resulted in hyperexcitability, we built and analyzed a computational model to simulate the effects of mutations. The model suggested that lower intracellular magnesium concentration enhanced synaptic N-methyl-D-aspartate receptor (NMDAR currents. This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE.

  3. Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes

    OpenAIRE

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

    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 ...

  4. Hormones and absence epilepsy

    NARCIS (Netherlands)

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

    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,

  5. Hormones and absence epilepsy

    NARCIS (Netherlands)

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

    2009-01-01

    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,

  6. Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

    DEFF Research Database (Denmark)

    Chioza, Barry A; Aicardi, Jean; Aschauer, Harald

    2009-01-01

    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance.......1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, palpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1....

  7. 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.

  8. Intellectual functioning in children with epilepsy: Frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes

    OpenAIRE

    Lopes, Ana Filipa; Simões, Mário R.; Monteiro, José Paulo; Fonseca, Maria José; Martins, Cristina; Ventosa, Lurdes; Lourenço, Laura; Robalo, Conceição

    2013-01-01

    The purpose of our study is to describe intellectual functioning in three common childhood epilepsy syndromes - frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS). And also to determine the influence of epilepsy related variables, type of epilepsy, age at epilepsy onset, duration and frequency of epilepsy, and treatment on the scores.

  9. Intellectual functioning in children with epilepsy: Frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes

    OpenAIRE

    Lopes, Ana Filipa; Simões, Mário Rodrigues; Monteiro, José Paulo; Fonseca, Maria José; Martins, Cristina; Ventosa, Lurdes; Lourenço, Laura; Robalo, Conceição

    2013-01-01

    Purpose The purpose of our study is to describe intellectual functioning in three common childhood epilepsy syndromes – frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS). And also to determine the influence of epilepsy related variables, type of epilepsy, age at epilepsy onset, duration and frequency of epilepsy, and treatment on the scores. Methods Intellectual functioning was examined in a group of 90 children wit...

  10. 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...... of frequencies in the paroxysms. A database of 106 paroxysms from 26 patients was analyzed. The database is large compared to other known studies in the field of dynamics in CAE. CWT is more efficient than the widely used Fourier transform due to CWTs ability to recognize smaller discontinuities and variations....... The use of scalograms and the detection algorithms result in a potentially usable clinical tool for dividing CAE patients into subsets. Differences between the grouped paroxysms may turn out to be useful from a clinical perspective as a prognostic indicator or when adjusting drug treatment....

  11. 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.

  12. Hormones and absence epilepsy in genetic models

    NARCIS (Netherlands)

    Tolmacheva, E.A.; Luijtelaar, E.L.J.M. van

    2010-01-01

    Steroid hormones are known to have a tremendous impact on seizures and might play a prominent role in epileptogenesis. However, little is known about the role of steroid hormones in absence epilepsy. Here we review recently combined electrophysiological, pharmacological and behavioural studies in a

  13. Stress, glucocorticoids and absences in a genetic epilepsy model

    NARCIS (Netherlands)

    Tolmacheva, E.A.; Oitzl, M.S.; Luijtelaar, E.L.J.M. van

    2012-01-01

    Although stress can alter the susceptibility of patients and animal models to convulsive epilepsy, little is known about the role of stress and glucocorticoid hormones in absence epilepsy. We measured the basal and acute stress-induced (foot-shocks: FS) concentrations of corticosterone in WAG/Rij

  14. 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

  15. 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.

  16. Adult absence semiology misinterpreted as mesial temporal lobe epilepsy.

    Science.gov (United States)

    Hurst, Rebecca; Chiota-McCollum, Nicole; Tatum, William

    2014-12-01

    Correct diagnosis of seizure type and epilepsy syndrome is the foundation for appropriate antiepileptic drug selection. Inappropriate medication choices occur in the treatment of generalized epilepsy and may aggravate some seizure types, including absence seizures, potentially leading to pseudo-drug resistance. Fortunately, a correct diagnosis of absence seizures is usually not difficult, though rarely demonstrates electroclinical overlap with focal seizures. EEG can be especially misleading when secondary bilateral synchronous discharges occur in patients with focal seizures. However, the semiology of focal seizures associated with mesial temporal lobe epilepsy has a characteristic and consistent semiology that is the mark of this common epilepsy syndrome in adulthood. We recently encountered a 53-year-old female with refractory seizures and a semiology strongly suggesting mesial temporal lobe epilepsy. Instead of focal seizures, prolonged absence seizures were validated by video-EEG monitoring and she became seizure-free after a change to broad-spectrum antiepileptic drugs. This case further expands our understanding of the complexity of semiology in electroclinical classification and the spectrum that may occur in adult absence seizures. It serves to underscore the need for ictal EEG recordings and the importance of concordance with the clinical course during the pre-surgical evaluation of patients with lesions and drug-resistant epilepsy. [Published with video sequences].

  17. Long-term outcome of childhood absence epilepsy : Dutch Study of Epilepsy in Childhood

    NARCIS (Netherlands)

    Callenbach, Petra M. C.; Bouma, Paul A. D.; Geerts, Ada T.; Arts, Willem Frans M.; Stroink, Hans; Peeters, Els A. J.; van Donselaar, Cees A.; Peters, A. C. Boudewijn; Brouwer, Oebele F.

    We determined long-term outcome and the predictive value of baseline and EEG characteristics on seizure activity evolution in 47 children with newly diagnosed childhood absence epilepsy (CAE) included in the Dutch Study of Epilepsy in Childhood. All children were followed for 12-17 years. The

  18. The ?2? Subunit and Absence Epilepsy: Beyond Calcium Channels?

    National Research Council Canada - National Science Library

    Roberta Celli; Ines Santolini; Michela Guiducci; Gilles van Luijtelaar; Pasquale Parisi; Pasquale Striano; Roberto Gradini; Giuseppe Battaglia; Richard T. Ngomba; Ferdinando Nicoletti

    2017-01-01

    .... Activation of T-type voltage-sensitive calcium channels (VSCCs) contributes to the pathological oscillatory activity of this network, and some of the first-line drugs used in the treatment of absence epilepsy inhibit T-type calcium channels. The ?2...

  19. The WAG/Rij strain: A genetic animal model of absence epilepsy with comorbidity of depressiony

    NARCIS (Netherlands)

    Sarkisova, K.Y.; Luijtelaar, E.L.J.M. van

    2011-01-01

    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

  20. 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...

  1. 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

  2. Glutamatergic alterations in the cortex of genetic absence epilepsy rats

    Directory of Open Access Journals (Sweden)

    Didier-Bazes Marianne

    2007-08-01

    Full Text Available Abstract Background In absence epilepsy, the neuronal hyper-excitation and hyper-synchronization, which induce spike and wave discharges in a cortico-thalamic loop are suspected to be due to an imbalance between GABA and glutamate (GLU neurotransmission. In order to elucidate the role played by GLU in disease outcome, we measured cortical and thalamic extracellular levels of GLU and GABA. We used an in vivo quantitative microdialysis approach (no-net-flux method in an animal model of absence epilepsy (GAERS. In addition, by infusing labelled glutamate through the microdialysis probe, we studied in vivo glutamate uptake in the cortex and thalamus in GAERS and non-epileptic control (NEC rats. Expression of the vesicular glutamate transporters VGLUT1 and VGLUT2 and a synaptic component, synaptophysin, was also measured. Results Although extracellular concentrations of GABA and GLU in the cortex and thalamus were not significantly different between GAERS and NEC rats, cortical GLU uptake was significantly decreased in unrestrained awake GAERS. Expression of VGLUT2 and synaptophysin was increased in the cortex of GAERS compared to NEC rats, but no changes were observed in the thalamus. Conclusion The specific decrease in GLU uptake in the cortex of GAERS linked to synaptic changes suggests impairment of the glutamatergic terminal network. These data support the idea that a change in glutamatergic neurotransmission in the cortex could contribute to hyperexcitability in absence epilepsy.

  3. Evaluation of CACNA1H in European patients with childhood absence epilepsy

    NARCIS (Netherlands)

    Chioza, Barry; Everett, Kate; Aschauer, Harald; Brouwer, Oebele; Callenbach, Petra; Covanis, Athanasios; Dulac, Olivier; Durner, Martina; Eeg-Olofsson, Orvar; Feucht, Martha; Friis, Mogens; Heils, Armin; Kjeldsen, Marianne; Larsson, Katrin; Lehesjoki, Anna-Elina; Nabbout, Rima; Olsson, Ingrid; Sander, Thomas; Siren, Auli; Robinson, Robert; Rees, Michele; Gardiner, R. Mark

    CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the

  4. 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.

  5. 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 E...

  6. Evaluation of creative thinking in children with idiopathic epilepsy (absence epilepsy).

    Science.gov (United States)

    Di Filippo, T; Parisi, L; Roccella, M

    2012-02-01

    Creativity represents the silent character of human behaviour. In children with epilepsy, cognitive performance of has mainly been investigated under the assumption that the disorder represents a risk factor for the development of intellectual function. In subjects with different forms of epilepsy, neuropsychologic disorders have been detected even when cognitive-global functioning is unimpaired. The cognitive functions of subjects with epilepsy have been widely studied, but their creativity has been never evaluated to date. The aim of this study was to describe the development of creative thinking in a group of children with absence epilepsy. The test battery included: the Torrance Test of Creative Thinking (TTCT), the Wechsler Intelligence Scale for Children-revised (WISC-R) and the Goodenough Human Figure Drawing Test. Statistical analysis (Mann-Whitney test) showed a statistically significant difference (P children with epilesy vs control group), with higher scores for figure originality, figure fluidity and figure elaboration in the control group. There was a significant correlation (Spearman's rho) between verbal IQ and verbal fluidity and verbal flexibility subscale scores and between performance IQ and figure elaboration, between total IQ and verbal fluidity and verbal flexibility subscales (P 0.30). Low scores on the figure originality subscales seem to confirm the hypothesis that adverse psychodynamic and relational factors impoverish autonomy, flexibility and manipulator interests. The communication channels between subjects with epilepsy and their family members were affected by the disorder, as were the type of emotional dynamics and affective flux.

  7. Long-term prognosis of childhood absence epilepsy.

    Science.gov (United States)

    Martínez-Ferrández, C; Martínez-Salcedo, E; Casas-Fernández, C; Alarcón-Martínez, H; Ibáñez-Micó, S; Domingo-Jiménez, R

    2017-03-18

    Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Absence epilepsy in tottering mutant mice is associated with calcium channel defects.

    Science.gov (United States)

    Fletcher, C F; Lutz, C M; O'Sullivan, T N; Shaughnessy, J D; Hawkes, R; Frankel, W N; Copeland, N G; Jenkins, N A

    1996-11-15

    Mutations at the mouse tottering (tg) locus cause a delayed-onset, recessive neurological disorder resulting in ataxia, motor seizures, and behavioral absence seizures resembling petit mal epilepsy in humans. A more severe allele, leaner (tg(la)), also shows a slow, selective degeneration of cerebellar neurons. By positional cloning, we have identified an alpha1A voltage-sensitive calcium channel gene that is mutated in tg and tg(la) mice. The alpha1A gene is widely expressed in the central nervous system with prominent, uniform expression in the cerebellum. alpha1A expression does not mirror the localized pattern of cerebellar degeneration observed in tg(la) mice, providing evidence for regional differences in biological function of alpha1A channels. These studies define the first mutations in a mammalian central nervous system-specific voltage-sensitive calcium channel and identify the first gene involved in absence epilepsy.

  9. 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.

  10. Animal models of absence epilepsies: What do they model and do sex and sex hormones matter?

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Onat, F.Y.; Gallagher, M.J.

    2014-01-01

    While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes. In addition, although there are more females than males diagnosed with typical absence epilepsy syndromes,

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

    NARCIS (Netherlands)

    Everett, Kate V.; Chioza, Barry; Aicardi, Jean; Aschauer, Harald; Brouwer, Oebele; Callenbach, Petra; Covanis, Athanasios; Dulac, Olivier; Eeg-Olofsson, Orvar; Feucht, Martha; Friis, Mogens; Goutieres, Francoise; Guerrini, Renzo; Heils, Armin; Kjeldsen, Marianne; Lehesjoki, Anna-Elina; Makoff, Andrew; Nabbout, Rima; Olsson, Ingrid; Sander, Thomas; Siren, Auli; McKeigue, Paul; Robinson, Robert; Taske, Nichole; Rees, Michele; Gardiner, Mark

    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

  12. 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.

  13. Human absence epilepsy: the WAG/Rij rat as a model

    NARCIS (Netherlands)

    Renier, W.O.; Coenen, A.M.L.

    2000-01-01

    Human absence epilepsy is characterized by a generalized 3 Hz spike-wave activity in the electroencephalogram. This non-convulsive type of epilepsy is associated with mild myoclonic twitches. Main clinical characteristics are brief lapses in the patient's ability to maintain contact with the

  14. 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...... involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage...

  15. 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.

  16. Polyspike and waves do not predict generalized tonic-clonic seizures in childhood absence epilepsy.

    Science.gov (United States)

    Vierck, Esther; Cauley, Ryan; Kugler, Steven L; Mandelbaum, David E; Pal, Deb K; Durner, Martina

    2010-04-01

    About 40% of children with childhood absence epilepsy develop generalized tonic-clonic seizures. It is commonly held that polyspike-wave pattern on the electroencephalogram (EEG) can predict this development of generalized tonic-clonic seizures. However, there is no firm evidence in support of this proposition. To test this assumption, we used survival analysis and compared the incidence of generalized tonic-clonic seizures in 115 patients with childhood absence epilepsy having either isolated 3-Hz spike-wave or coexisting 3 Hz and polyspike-waves and other variables. There was no evidence that polyspike-waves predicted development of generalized tonic-clonic seizures in patients with childhood absence epilepsy. Later age of onset (> or =8 years) and family histories of generalized tonic-clonic seizures were the only independent predictors. These results have implications for counseling and in the choice of first-line antiepileptic drugs used for childhood absence epilepsy, especially if valproate is chosen based on the observation of polyspike-waves.

  17. 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....

  18. Genetic animal models for Absence epilepsy: a review of the WAG/Rij strain of rats

    NARCIS (Netherlands)

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

    2003-01-01

    Based on the reviewed literature and the data presented in this paper, conclusions can be drawn with respect to the validity of the WAG/Rij strain of rats as a model for absence epilepsy in humans. The view that the WAG/Rij model has "face validity" is supported by the simultaneous presence of

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

    National Research Council Canada - National Science Library

    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

    .... Activation of T-type voltage-sensitive calcium channels (VSCCs) contributes to the pathological oscillatory activity of this network, and some of the first-line drugs used in the treatment of absence epilepsy inhibit T-type calcium channels. The α2δ...

  20. Polyspike and Waves Do Not Predict Generalized Tonic-Clonic Seizures in Childhood Absence Epilepsy

    Science.gov (United States)

    Vierck, Esther; Cauley, Ryan; Kugler, Steven L.; Mandelbaum, David E.; Pal, Deb K.; Durner, Martina

    2012-01-01

    About 40% of children with childhood absence epilepsy develop generalized tonic-clonic seizures. It is commonly held that polyspike–wave pattern on the electroencephalogram (EEG) can predict this development of generalized tonic-clonic seizures. However, there is no firm evidence in support of this proposition. To test this assumption, we used survival analysis and compared the incidence of generalized tonic-clonic seizures in 115 patients with childhood absence epilepsy having either isolated 3-Hz spike–wave or coexisting 3 Hz and polyspike–waves and other variables. There was no evidence that polyspike–waves predicted development of generalized tonic-clonic seizures in patients with childhood absence epilepsy. Later age of onset (≥8 years) and family histories of generalized tonic-clonic seizures were the only independent predictors. These results have implications for counseling and in the choice of first-line antiepileptic drugs used for childhood absence epilepsy, especially if valproate is chosen based on the observation of polyspike–waves. PMID:20382952

  1. 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 optima...

  2. 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.

  3. Quantitative EEG analysis of the maturational changes associated with childhood absence epilepsy

    Science.gov (United States)

    Rosso, O. A.; Hyslop, W.; Gerlach, R.; Smith, R. L. L.; Rostas, J. A. P.; Hunter, M.

    2005-10-01

    This study aimed to examine the background electroencephalography (EEG) in children with childhood absence epilepsy, a condition whose presentation has strong developmental links. EEG hallmarks of absence seizure activity are widely accepted and there is recognition that the bulk of inter-ictal EEG in this group is normal to the naked eye. This multidisciplinary study aimed to use the normalized total wavelet entropy (NTWS) (Signal Processing 83 (2003) 1275) to examine the background EEG of those patients demonstrating absence seizure activity, and compare it with children without absence epilepsy. This calculation can be used to define the degree of order in a system, with higher levels of entropy indicating a more disordered (chaotic) system. Results were subjected to further statistical analyses of significance. Entropy values were calculated for patients versus controls. For all channels combined, patients with absence epilepsy showed (statistically significant) lower entropy values than controls. The size of the difference in entropy values was not uniform, with certain EEG electrodes consistently showing greater differences than others.

  4. Ictal and interictal respiratory changes in temporal lobe and absence epilepsy in childhood.

    Science.gov (United States)

    Jansen, Katrien; Varon, Carolina; Van Huffel, Sabine; Lagae, Lieven

    2013-10-01

    Autonomic dysfunctions occur during but also in between seizures. During seizures, the direct involvement of central autonomic control centers cause specific changes in heart rate and respiration. The pathophysiology of autonomic dysfunctions that are observed in the interictal period is more difficult to explain. These alterations are most likely due to changes in the epileptic network and/or to a lesser extent due to direct interictal spike activity disturbing central autonomic centers. The aim of our study is to investigate whether ictal and interictal respiratory changes do occur in temporal lobe and absence epilepsy in children. We hypothesize that the interictal autonomic changes are due to changes in the neuronal network, by studying epilepsy patients with normal interictal background EEG. Ictal and interictal single-lead ECG signals were extracted from 24h video-EEG recordings in 10 children with refractory temporal lobe seizures, in 10 children with absence seizures with occasional interictal discharges and 10 control subjects. RR interval time series were calculated and respiration parameters were derived from the ECG signal. ECG-derived respiration (EDR) signals were computed and time and frequency domain parameters were extracted to characterize the respiratory function. In the ictal registrations we observed bradypnea in 10 out of the 12 recorded seizures from the temporal lobe. In absence seizures, we observed a variable ictal effect on respiratory rate. In the analysis of the interictal data, the most remarkable finding was the higher power in the low frequency band and lower power in the high frequency band of the EDR signals in patients with absence seizures compared to control subjects, indicating a shift of respiratory rate to the lower frequencies. In conclusion we found a uniform pattern in ictal respiratory changes in temporal lobe seizures, due to direct involvement of central respiratory centers. In absence epilepsy, we found a disturbed

  5. Functional Network Connectivity Patterns between Idiopathic Generalized Epilepsy with Myoclonic and Absence Seizures

    Directory of Open Access Journals (Sweden)

    Qifu Li

    2017-05-01

    Full Text Available The extensive cerebral cortex and subcortical structures are considered as the major regions related to the generalized epileptiform discharges in idiopathic generalized epilepsy. However, various clinical syndromes and electroencephalogram (EEG signs exist across generalized seizures, such as the loss of consciousness during absence seizures (AS and the jerk of limbs during myoclonic seizures (MS. It is presumed that various functional systems affected by discharges lead to the difference in syndromes of these seizures. Twenty epileptic patients with MS, 21 patients with AS, and 21 healthy controls were recruited in this study. The functional network connectivity was analyzed based on the resting-state functional magnetic resonance imaging scans. The statistical analysis was performed in three groups to assess the difference in the functional brain networks in two types of generalized seizures. Twelve resting-state networks were identified in three groups. Both patient groups showed common abnormalities, including decreased functional connectivity in salience network (SN, cerebellum network, and primary perceptional networks and decreased connection between SN and visual network, compared with healthy controls. Interestingly, the frontal part of high-level cognitive resting-state networks showed increased functional connectivity (FC in patients with MS, but decreased FC in patients with AS. Moreover, patients with MS showed decreased negative connections between high-level cognitive networks and primary system. The common alteration in both patient groups, including SN, might reflect a similar mechanism associated with the loss of consciousness during generalized seizures. This study provided the evidence of brain network in generalized epilepsy to understand the difference between MS and AS.

  6. Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy.

    Directory of Open Access Journals (Sweden)

    Wen-Chin Weng

    Full Text Available Absence epilepsy is an important epileptic syndrome in children. Multiscale entropy (MSE, an entropy-based method to measure dynamic complexity at multiple temporal scales, is helpful to disclose the information of brain connectivity. This study investigated the complexity of electroencephalogram (EEG signals using MSE in children with absence epilepsy. In this research, EEG signals from 19 channels of the entire brain in 21 children aged 5-12 years with absence epilepsy were analyzed. The EEG signals of pre-ictal (before seizure and ictal states (during seizure were analyzed by sample entropy (SamEn and MSE methods. Variations of complexity index (CI, which was calculated from MSE, from the pre-ictal to the ictal states were also analyzed. The entropy values in the pre-ictal state were significantly higher than those in the ictal state. The MSE revealed more differences in analysis compared to the SamEn. The occurrence of absence seizures decreased the CI in all channels. Changes in CI were also significantly greater in the frontal and central parts of the brain, indicating fronto-central cortical involvement of "cortico-thalamo-cortical network" in the occurrence of generalized spike and wave discharges during absence seizures. Moreover, higher sampling frequency was more sensitive in detecting functional changes in the ictal state. There was significantly higher correlation in ictal states in the same patient in different seizures but there were great differences in CI among different patients, indicating that CI changes were consistent in different absence seizures in the same patient but not from patient to patient. This implies that the brain stays in a homogeneous activation state during the absence seizures. In conclusion, MSE analysis is better than SamEn analysis to analyze complexity of EEG, and CI can be used to investigate the functional brain changes during absence seizures.

  7. Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy.

    Science.gov (United States)

    Weng, Wen-Chin; Jiang, George J A; Chang, Chi-Feng; Lu, Wen-Yu; Lin, Chun-Yen; Lee, Wang-Tso; Shieh, Jiann-Shing

    2015-01-01

    Absence epilepsy is an important epileptic syndrome in children. Multiscale entropy (MSE), an entropy-based method to measure dynamic complexity at multiple temporal scales, is helpful to disclose the information of brain connectivity. This study investigated the complexity of electroencephalogram (EEG) signals using MSE in children with absence epilepsy. In this research, EEG signals from 19 channels of the entire brain in 21 children aged 5-12 years with absence epilepsy were analyzed. The EEG signals of pre-ictal (before seizure) and ictal states (during seizure) were analyzed by sample entropy (SamEn) and MSE methods. Variations of complexity index (CI), which was calculated from MSE, from the pre-ictal to the ictal states were also analyzed. The entropy values in the pre-ictal state were significantly higher than those in the ictal state. The MSE revealed more differences in analysis compared to the SamEn. The occurrence of absence seizures decreased the CI in all channels. Changes in CI were also significantly greater in the frontal and central parts of the brain, indicating fronto-central cortical involvement of "cortico-thalamo-cortical network" in the occurrence of generalized spike and wave discharges during absence seizures. Moreover, higher sampling frequency was more sensitive in detecting functional changes in the ictal state. There was significantly higher correlation in ictal states in the same patient in different seizures but there were great differences in CI among different patients, indicating that CI changes were consistent in different absence seizures in the same patient but not from patient to patient. This implies that the brain stays in a homogeneous activation state during the absence seizures. In conclusion, MSE analysis is better than SamEn analysis to analyze complexity of EEG, and CI can be used to investigate the functional brain changes during absence seizures.

  8. Structural abnormalities in childhood absence epilepsy: voxel-based analysis using diffusion tensor imaging

    Directory of Open Access Journals (Sweden)

    Wenchao Qiu

    2016-09-01

    Full Text Available Purpose: Childhood absence epilepsy (CAE is a common syndrome of idiopathic generalized epilepsy. However, little is known about the brain structural changes in this type of epilepsy, especially in the default mode network (DMN regions. This study aims at using the diffusion tensor imaging (DTI technique to quantify structural abnormalities of DMN nodes in CAE patients. Method: DTI data were acquired in 14 CAE patients (aged 8.64±2.59 years, 7 females and 7 males and 16 age- and sex-matched healthy controls. The data were analyzed using voxel-based analysis (VBA and statistically compared between patients and controls. Pearson correlation was explored between altered DTI metrics and clinical parameters. The difference of brain volumes between patients and controls were also tested using unpaired t-test. Results: Patients showed significant increase of mean diffusivity (MD and radial diffusivity (RD in left medial prefrontal cortex, and decrease of fractional anisotropy (FA in left precuneus and axial diffusivity (AD in both left medial prefrontal cortex and precuneus. In correlation analysis, MD value from left medial prefrontal cortex was positively associated with duration of epilepsy. Neither the disease duration nor the seizure frequency showed significant correlation with FA values. Between-group comparison of brain volumes got no significant difference. Conclusion: The findings indicate that structural impairments exist in DMN regions in children suffering from absence epilepsy and MD values positively correlate with epilepsy duration. This may contribute to understanding the pathological mechanisms of chronic neurological deficits and promote the development of new therapies for this disorder.

  9. Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy

    OpenAIRE

    Renzo Guerrini; Federico Melani; Claudia Brancati; Anna Rita Ferrari; Paola Brovedani; Annibale Biggeri; Laura Grisotto; Simona Pellacani

    2015-01-01

    Background Absence epilepsy (AE) is etiologically heterogeneous and has at times been associated with idiopathic dystonia. Objectives Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer?s cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia. Methods We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9...

  10. Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

    Directory of Open Access Journals (Sweden)

    Renzo Guerrini

    Full Text Available Absence epilepsy (AE is etiologically heterogeneous and has at times been associated with idiopathic dystonia.Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer's cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia.We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9.7 and average intelligence and compared them with 89 age-, gender- and class-matched healthy children (mean age 10.57 using tests for handwriting fluency and quality, based on which we divided patients and controls into four subgroups: AE/dysgraphia, AE without dysgraphia, controls with dysgraphia and healthy controls. We compared the blink reflex recovery cycle in children belonging to all four subgroups.We identified dysgraphia in 17/82 children with AE and in 7/89 controls (20.7 vs 7.8%; P = 0.016 with the former having a 3.4-times higher risk of dysgraphia regardless of age and gender (odd ratio: 3.49; 95% CI 1.2, 8.8%. The AE/dysgraphia subgroup performed worse than controls with dysgraphia in one test of handwriting fluency (P = 0.037 and in most trials testing handwriting quality (P< 0.02. In children with AE/dysgraphia the blink reflex showed no suppression at short interstimulus intervals, with a difference for each value emerging when comparing the study group with the three remaining subgroups (P<0.001.In children with AE, dysgraphia is highly prevalent and has a homogeneous, distinctive pathophysiological substrate consistent with idiopathic dystonia.

  11. Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

    Science.gov (United States)

    Guerrini, Renzo; Melani, Federico; Brancati, Claudia; Ferrari, Anna Rita; Brovedani, Paola; Biggeri, Annibale; Grisotto, Laura; Pellacani, Simona

    2015-01-01

    Absence epilepsy (AE) is etiologically heterogeneous and has at times been associated with idiopathic dystonia. Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer's cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia. We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9.7) and average intelligence and compared them with 89 age-, gender- and class-matched healthy children (mean age 10.57) using tests for handwriting fluency and quality, based on which we divided patients and controls into four subgroups: AE/dysgraphia, AE without dysgraphia, controls with dysgraphia and healthy controls. We compared the blink reflex recovery cycle in children belonging to all four subgroups. We identified dysgraphia in 17/82 children with AE and in 7/89 controls (20.7 vs 7.8%; P = 0.016) with the former having a 3.4-times higher risk of dysgraphia regardless of age and gender (odd ratio: 3.49; 95% CI 1.2, 8.8%). The AE/dysgraphia subgroup performed worse than controls with dysgraphia in one test of handwriting fluency (P = 0.037) and in most trials testing handwriting quality (Pdysgraphia the blink reflex showed no suppression at short interstimulus intervals, with a difference for each value emerging when comparing the study group with the three remaining subgroups (Pdysgraphia is highly prevalent and has a homogeneous, distinctive pathophysiological substrate consistent with idiopathic dystonia.

  12. Multimodal neuroimaging investigations of alterations to consciousness: the relationship between absence epilepsy and sleep.

    Science.gov (United States)

    Bagshaw, Andrew P; Rollings, David T; Khalsa, Sakh; Cavanna, Andrea E

    2014-01-01

    The link between epilepsy and sleep is well established on many levels. The focus of the current review is on recent neuroimaging investigations into the alterations of consciousness that are observed during absence seizures and the descent into sleep. Functional neuroimaging provides simultaneous cortical and subcortical recording of activity throughout the brain, allowing a detailed definition and characterization of large-scale brain networks and the interactions between them. This has led to the identification of a set of regions which collectively form the consciousness system, which includes contributions from the default mode network (DMN), ascending arousal systems, and the thalamus. Electrophysiological and neuroimaging investigations have also clearly demonstrated the importance of thalamocortical and corticothalamic networks in the evolution of sleep and absence epilepsy, two phenomena in which the subject experiences an alteration to the conscious state and a disconnection from external input. However, the precise relationship between the consciousness system, thalamocortical networks, and consciousness itself remains to be clarified. One of the fundamental challenges is to understand how distributed brain networks coordinate their activity in order to maintain and implement complex behaviors such as consciousness and how modifications to this network activity lead to alterations in consciousness. By taking into account not only the level of activation of individual brain regions but also their connectivity within specific networks and the activity and connectivity of other relevant networks, a more specific quantification of brain states can be achieved. This, in turn, may provide a more fundamental understanding of the alterations to consciousness experienced in sleep and epilepsy. © 2013.

  13. Rhythmic activity in EEG and sleep in rats with absence epilepsy.

    Science.gov (United States)

    Sitnikova, Evgenia; Hramov, Alexander E; Grubov, Vadim; Koronovsky, Alexey A

    2016-01-01

    This study examines the hypothesis that absence epilepsy is accompanied by disturbances of rhythmic activity in EEG during sleep. Sleep-wake architecture and time-frequency parameters of EEG were analyzed during drowsiness and sleep in WAG/Rij rats with genetic predisposition to absence epilepsy. The incidence of seizures varied in a group of 10 rats, in which 5 individuals did not develop epileptic discharges in their EEG (asymptomatic rats). In contrast to asymptomatic, symptomatic subjects (1) displayed less percentage of wakefulness EEG pattern and more non-REM sleep, (2) showed higher beta and less delta EEG power in frontal cortex during non-REM sleep. Mid-frequency oscillations, such as sleep spindles and 5-9 Hz oscillations, were detected in EEG automatically and underwent time-frequency analysis by means of skeletons of wavelet surfaces. Some mid-frequency oscillations showed "complex" frequency structure, consisting of the dominant and subdominant components. "Complex" sleep spindles more frequently appeared in asymptomatic rats than in symptomatic, whereas the dominant frequency of these spindles in symptomatic rats was higher than in asymptomatic (12.7 vs 11.9 Hz). In general, low-frequency components were readily integrated in sleep spindles in asymptomatic WAG/Rij rats, and decrease in number of "complex" sleep spindles may be associated with epileptic phenotype. Copyright © 2015 Elsevier Inc. All rights reserved.

  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. 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%; psemiology 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.

  16. Idiopathic epilepsy with generalized tonic-clonic seizures only versus idiopathic epilepsy with phantom absences and generalized tonic-clonic seizures: one or two syndromes?

    Science.gov (United States)

    Koutroumanidis, Michael; Aggelakis, Konstantinos; Panayiotopoulos, Chrysostomos P

    2008-12-01

    To define the relationship between two syndromes of idiopathic generalized epilepsy (IGE) with apparently similar phenotypes: The form with generalized tonic-clonic seizures only (IGE-GTCS) and that with phantom absences (IGE-PA). We compared the electroclinical features of 33 consecutive patients with GTCS and generalized spike wave (GSW); 18 had only GTCS and were diagnosed as IGE-GTCS, and 15 had hitherto unnoticed mild absences on the electroencephalography (EEG) and were diagnosed as IGE-PA. All patients were subjected to the same diagnostic workout, including video EEG during hyperventilation with breath counting (HBC). Patients with a clinical history of absences or myoclonic seizures were excluded. PA were easily identified with the first or second EEG in 14 of 15 patients with IGE-PA and always with sleep-deprived EEGs; conversely, PA did not occur in the IGE-GTCS patients despite using more EEGs. GTCS were twice as frequent in the IGE-GTCS group and tended to occur on awakening, whereas episodes of absence status affected twice as many patients with IGE-PA. The hereditary risk was 30% in the IGE-GTCS and 6.7% in IGE-PA. GSW had a strong polyspike component in IGE-PA and were briefer in IGE-GTCS. There is no evidence for a maturational influence on the duration of GSW in either syndrome. Our findings clearly indicate that IGE-GTCS and IGE-PA are two distinct IGE syndromes and emphasize the role of PA for patients' diagnosis and management and for syndromic classification. They also appear to validate HBC as a simple, sensitive, and pragmatic method for the clinical identification of typical absences.

  17. [Idiopathic generalized epilepsies with absence seizures with valproic acid treatment: neuropsychological disorders].

    Science.gov (United States)

    Conde-Guzon, P A; Cancho-Candela, R

    2012-07-16

    To analyze the neuropsychological profile of children with absence seizures treated with valproate. Sample of 34 children from 7 to 12 years with absence seizures treated with valproate (median dose: 30 mg/kg/day) and 28 controls. We get the neuropsychological profile by applying the Wechsler Intelligence Scale for Children-Revised (WISC-R) and Luria-DNI Battery. Children with absence seizures manifest verbal IQ significantly lower (p grammar. This is a serious deterioration profile in the areas of logical memory, short-term memory, arithmetic, numerical structure, reading, writing, naming, and articulation. Children with absence seizures have a significant memory deficit. Memory profile measured with the Luria-DNI Battery and the WISC-R appears generally deteriorated when compared with the control group (p < 0.001) although there is a paradoxical preservation of shape memory. The short-term auditory and visual memory and logical memory are particularly affected. In the epileptic group, the attentional profile (estimated by the 'third factor of the WISC-R') is generally deteriorated when compared with the control group. We consider in children with this diagnosis and treatment, the neuropsychological profile described to strengthen deficient neuropsychological and psychoeducational areas. Above, we claim the need, in the consultations of neuropediatrics, the neuropsychlogists to ensure the systematic analysis of neuropsychological and cognitive difficulties both at the time of the diagnosis and follow-up of epilepsy.

  18. The sleep-wakefulness cycle of Wistar rats with spontaneous absence-like epilepsy

    Directory of Open Access Journals (Sweden)

    Edison Sanfelice André

    2015-07-01

    Full Text Available Possible interactions between the sleep-wakefulness cycle and a new kind of spontaneous epilepsy, expressed as absence-like seizures and spike-wave bursts in FMUSP rats, are evaluated. The electro-oscillograms of some cortical and subcortical regions of the brain were recorded, as well as head, rostrum/vibrissae and eye movements. Recordings were performed uninterruptedly during 24 hours. The seizures were mostly concentrated in the wakefulness state but they could occur in any other phase, including paradoxical sleep. After the seizure, the rats usually returned to the same phase that was interrupted, although they often returned to wakefulness. There was an intense fragmentation of the sleep-wakefulness cycle. The incidence of each cycle phase was significantly reduced, except SIII of synchronized sleep and paradoxical sleep, thus maintaining the overall duration and architecture of the sleep-wakefulness cycle. The fragmentation of the cycle seems to be due to an impairment of the very processes that generate sleep and wakefulness. Electrophysiological and behavioral profiles of the FMUSP rats recommend accurate and comprehensive study of the animal model owing to its resemblance to seizures in humans and also to discrepancies with existing genetic or experimental epilepsy models.

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

    Directory of Open Access Journals (Sweden)

    Dazhi Cheng

    2017-09-01

    Full Text Available 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.

  20. 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.

  1. 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

  2. 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.

  3. Altered Functional Connectivity within and between Brain Modules in Absence Epilepsy: A Resting-State Functional Magnetic Resonance Imaging Study

    Directory of Open Access Journals (Sweden)

    Cui-Ping Xu

    2013-01-01

    Full Text Available Functional connectivity has been correlated with a patient’s level of consciousness and has been found to be altered in several neuropsychiatric disorders. Absence epilepsy patients, who experience a loss of consciousness, are assumed to suffer from alterations in thalamocortical networks; however, previous studies have not explored the changes at a functional module level. We used resting-state functional magnetic resonance imaging to examine the alteration in functional connectivity that occurs in absence epilepsy patients. By parcellating the brain into 90 brain regions/nodes, we uncovered an altered functional connectivity within and between functional modules. Some brain regions had a greater number of altered connections and therefore behaved as key nodes in the changed network pattern; these regions included the superior frontal gyrus, the amygdala, and the putamen. In particular, the superior frontal gyrus demonstrated both an increased value of connections with other nodes of the frontal default mode network and a decreased value of connections with the limbic system. This divergence is positively correlated with epilepsy duration. These findings provide a new perspective and shed light on how functional connectivity and the balance of within/between module connections may contribute to both the state of consciousness and the development of absence epilepsy.

  4. 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...

  5. Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers

    Directory of Open Access Journals (Sweden)

    Sun Yeong Park

    2017-09-01

    Full Text Available Myoclonus epilepsy with ragged-red fibers (MERRFs, an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease’s natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.

  6. Long-term outcomes of generalized tonic-clonic seizures in a childhood absence epilepsy trial.

    Science.gov (United States)

    Shinnar, Shlomo; Cnaan, Avital; Hu, Fengming; Clark, Peggy; Dlugos, Dennis; Hirtz, Deborah G; Masur, David; Mizrahi, Eli M; Moshé, Solomon L; Glauser, Tracy A

    2015-09-29

    To determine incidence and early predictors of generalized tonic-clonic seizures (GTCs) in children with childhood absence epilepsy (CAE). Occurrence of GTCs was determined in 446 children with CAE who participated in a randomized clinical trial comparing ethosuximide, lamotrigine, and valproate as initial therapy for CAE. As of June 2014, the cohort had been followed for a median of 7.0 years since enrollment and 12% (53) have experienced at least one GTC. The median time to develop GTCs from initial therapy was 4.7 years. The median age at first GTC was 13.1 years. Fifteen (28%) were not on medications at the time of their first GTC. On univariate analysis, older age at enrollment was associated with a higher risk of GTCs (p=-0.0009), as was the duration of the shortest burst on the baseline EEG (p=0.037). Failure to respond to initial treatment (p<0.001) but not treatment assignment was associated with a higher rate of GTCs. Among patients initially assigned to ethosuximide, 94% (15/16) with GTCs experienced initial therapy failure (p<0.0001). A similar but more modest effect was noted in those initially treated with valproate (p=0.017) and not seen in those initially treated with lamotrigine. The occurrence of GTCs in a well-characterized cohort of children with CAE appears lower than previously reported. GTCs tend to occur late in the course of the disorder. Children initially treated with ethosuximide who are responders have a particularly low risk of developing subsequent GTCs. © 2015 American Academy of Neurology.

  7. 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 Steensbjerre; Nikanorova, Marina

    2011-01-01

    Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo bal...

  8. 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, ...

  9. 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....

  10. 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.

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

    Science.gov (United States)

    Guo, Wei; Shang, Dong-Mei; Cao, Jing-Hui; Feng, Kaiyan; He, Yi-Chun; Jiang, Yang; Wang, ShaoPeng; Gao, Yu-Fei

    2017-01-01

    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.

  12. Sexual dysfunction in epilepsy: identifying the psychological variables

    Directory of Open Access Journals (Sweden)

    SOUZA ELISABETE ABIB P. DE

    2000-01-01

    Full Text Available In order to evaluate the psychological variables that affect sexual dysfunction (SD in epilepsy, where compared 60 epileptics (Group 1 with 60 healthy individuals (Group 2, through the State-Trait Anxiety Inventory (Spielberger et al., 1970, Beck Depression Inventory (Beck, 1974 and Sexual Behavior Interview (Souza, 1995. Sexual dysfunction (SD, anxiety and depression were found more frequently in Group 1 than in Group 2 and were not related to sex. Variables such as the onset duration and frequency of seizures as well as the use to medication were not associated with SD. Temporal lobe epilepsy was related to SD (p = 0.035 but not to anxiety or depression. Anxiety and depression were related to SD in both groups. Perception in controlling the seizures was closely related to anxiety (p = 0 and depression (p = 0.009. We conclude that psychological factors play an important role in the alteration of sexual behavior in epileptics and that suitable attention must be given to the control of these variables.

  13. Maternal care affects EEG properties of spike-wave seizures (including pre- and post ictal periods) in adult WAG/Rij rats with genetic predisposition to absence epilepsy.

    Science.gov (United States)

    Sitnikova, Evgenia; Rutskova, Elizaveta M; Raevsky, Vladimir V

    2016-10-01

    WAG/Rij rats have a genetic predisposition to absence epilepsy and develop spontaneous spike-wave discharges in EEG during late ontogenesis (SWD, EEG manifestation of absence epilepsy). Changes in an environment during early postnatal ontogenesis can influence the genetically predetermined absence epilepsy. Here we examined the effect of maternal environment during weaning period on the EEG manifestation of absence epilepsy in adulthood. Experiments were performed in the offspring of WAG/Rij and Wistar rats. The newborn pups were fostered to dams of the same (in-fostering) or another strain (cross-fostering). Age-matched control WAG/Rij and Wistar rats were reared by their biological mothers. Absence seizures were uncommon in Wistar and were not aggravated in both in- and cross-fostered groups. In WAG/Rij rats, fewer SWD were found in the cross-fostered as compared to the in-fostered group. The cross-fostered WAG/Rij rats showed higher percentage of short-lasting SWD with duration EEG at the beginning of SWD in the cross-fostered WAG/Rij rats was lower than in control (8.82 vs 9.25Hz), but it was higher in a period of 1.5s before and after SWD. It was concluded that a healthier maternal environment is able to alleviate genetically predetermined absence seizures in adulthood through changes in EEG rhythmic activity. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Epilepsy

    Science.gov (United States)

    ... like staring at a computer screen or playing video games for too long) fever certain medications hyperventilation (breathing ... will check for epilepsy or other conditions. In addition to doing a physical examination , the neurologist will ...

  15. Epilepsy

    Science.gov (United States)

    ... psychological responses to living with epilepsy. Contact: NINDS Brain Resource and Information Network, PO Box 5801 Bethesda, MD 20824, (800) ... Department of Health and Human Services | USA.gov | Grants.gov Page Last Updated ...

  16. Electric stimulation of the tuberomamillary nucleus affects epileptic activity and sleep-wake cycle in a genetic absence epilepsy model.

    Science.gov (United States)

    Blik, Vitaliya

    2015-01-01

    Deep brain stimulation (DBS) is a promising approach for epilepsy treatment, but the optimal targets and parameters of stimulation are yet to be investigated. Tuberomamillary nucleus (TMN) is involved in EEG desynchronization-one of the proposed mechanisms for DBS action. We studied whether TMN stimulation could interfere with epileptic spike-wave discharges (SWDs) in WAG/Rij rats with inherited absence epilepsy and whether such stimulation would affect sleep-wake cycle. EEG and video registration were used to determine SWD occurrence and stages of sleep and wake during three-hours recording sessions. Stimulation (100Hz) was applied in two modes: closed-loop (with previously determined interruption threshold intensity) or open-loop mode (with 50% or 70% threshold intensity). Closed-loop stimulation successfully interrupted SWDs but elevated their number by 148 ± 54% compared to baseline. It was accompanied by increase in number of episodes but not total duration of both active and passive wakefulness. Open-loop stimulation with amplitude 50% threshold did not change measured parameters, though 70% threshold stimulation reduced SWDs number by 40 ± 9%, significantly raised the amount of active wakefulness and decreased the amount of both slow-wave and rapid eye movement sleep. These results suggest that the TMN is unfavorable as a target for DBS as its stimulation may cause alterations in sleep-wake cycle. A careful choosing of parameters and control of sleep-wake activity is necessary when applying DBS in epilepsy. Copyright © 2014 Elsevier B.V. All rights reserved.

  17. Detection of spike and wave discharges in the cortical EEG of genetic absence epilepsy rats from Strasbourg

    Science.gov (United States)

    Van Hese, P.; Martens, J.-P.; Boon, P.; Dedeurwaerdere, S.; Lemahieu, I.; Van de Walle, R.

    2003-06-01

    Genetic absence epilepsy rats from Strasbourg (GAERS) are a strain of Wistar rats in which all animals present spontaneous occurrence of spike and wave discharges (SWD) in the cortical electroencephalogram (EEG). In this paper, we present a method for the detection of SWD, based on the key observation that SWD are quasi-periodic signals. A spectral-comb based analysis method is used to extract the fundamental frequency and the percentage of energy explained by the harmonic spectral components is subsequently used as a detection parameter. It is shown that a maximum sensitivity and specificity of up to 96 per cent can be achieved. We also compared the performance of this method with the methods presented in the literature and conclude that the surplus value of the novel detection method lies in the higher specificity that can be obtained in the analysis of long-term EEG fragments, which are contaminated by artefacts and contain large portions of slow-wave sleep.

  18. Detection of spike and wave discharges in the cortical EEG of genetic absence epilepsy rats from Strasbourg

    Energy Technology Data Exchange (ETDEWEB)

    Hese, P van [Ghent University, Department of Electronics and Information Systems, Sint-Pietersnieuwstraat 41, 9000 Ghent (Belgium); Martens, J-P [Ghent University, Department of Electronics and Information Systems, Sint-Pietersnieuwstraat 41, 9000 Ghent (Belgium); Boon, P [Ghent University Hospital, Department of Neurology, De Pintelaan 185, 9000 Ghent (Belgium); Dedeurwaerdere, S [Ghent University Hospital, Department of Neurology, De Pintelaan 185, 9000 Ghent (Belgium); Lemahieu, I [Ghent University, Department of Electronics and Information Systems, Sint-Pietersnieuwstraat 41, 9000 Ghent (Belgium); Walle, R van de [Ghent University, Department of Electronics and Information Systems, Sint-Pietersnieuwstraat 41, 9000 Ghent (Belgium)

    2003-06-21

    Genetic absence epilepsy rats from Strasbourg (GAERS) are a strain of Wistar rats in which all animals present spontaneous occurrence of spike and wave discharges (SWD) in the cortical electroencephalogram (EEG). In this paper, we present a method for the detection of SWD, based on the key observation that SWD are quasi-periodic signals. A spectral-comb based analysis method is used to extract the fundamental frequency and the percentage of energy explained by the harmonic spectral components is subsequently used as a detection parameter. It is shown that a maximum sensitivity and specificity of up to 96 per cent can be achieved. We also compared the performance of this method with the methods presented in the literature and conclude that the surplus value of the novel detection method lies in the higher specificity that can be obtained in the analysis of long-term EEG fragments, which are contaminated by artefacts and contain large portions of slow-wave sleep.

  19. Sociability impairments in Genetic Absence Epilepsy Rats from Strasbourg: Reversal by the T-type calcium channel antagonist Z944.

    Science.gov (United States)

    Henbid, Mark T; Marks, Wendie N; Collins, Madeline J; Cain, Stuart M; Snutch, Terrance P; Howland, John G

    2017-10-01

    Childhood absence epilepsy (CAE) is associated with interictal co-morbid symptoms including abnormalities in social behaviour. Genetic Absence Epilepsy Rats from Strasbourg (GAERS) is a model of CAE that exhibits physiological and behavioural alterations characteristic of the human disorder. However, it is unknown if GAERS display the social deficits often observed in CAE. Sociability in rodents is thought to be mediated by neural circuits densely populated with T-type calcium channels and GAERS contain a missense mutation in the Cav3.2 T-type calcium channel gene. Thus, the objective of this study was to examine the effects of the clinical stage pan-T-type calcium channel blocker, Z944, on sociability behaviour in male and female GAERS and non-epileptic control (NEC) animals. Female GAERS showed reduced sociability in a three-chamber sociability task whereas male GAERS, male NECs, and female NECs all showed a preference for the chamber containing a stranger rat. In drug trials, pre-treatment with 5mg/kg of Z944 normalized sociability in female GAERS. In contrast, female NECs showed impaired sociability following Z944 treatment. Dose-dependent decreases in locomotor activity were noted following Z944 treatment in both strains. Treatment with 10mg/kg of Z944 altered exploration such that only 8 of the 16 rats tested explored both sides of the testing chamber. In those that explored the chamber, significant preference for the stranger rat was observed in GAERS but not NECs. Overall, the data suggest that T-type calcium channels are critical in regulating sociability in both GAERS and NEC animals. Future research should focus on T-type calcium channels in the treatment of sociability deficits observed in disorders such as CAE. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Epilepsy.

    Science.gov (United States)

    Marson, Anthony G; Maguire, Melissa; Ramaratnam, Sridharan

    2009-01-28

    About 3% of people will be diagnosed with epilepsy during their lifetime, but about 70% of people with epilepsy eventually go into remission. We conducted a systematic review and aimed to answer the following clinical questions: What are the benefits and risks of starting anti-epileptic drug treatment following a single seizure? What are the effects of monotherapy in newly diagnosed partial epilepsy, and in newly diagnosed generalised epilepsy (tonic clonic type)? What are the effects of additional treatments in people with drug-resistant partial epilepsy? Which people in remission from seizures are at risk of relapse on withdrawal of drug treatment? What are the effects of behavioural and psychological treatments for people with epilepsy? What are the effects of surgery in people with drug-resistant temporal lobe epilepsy? We searched: Medline, Embase, The Cochrane Library, and other important databases up to April 2007 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 59 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: addition of second-line drugs (gabapentin, levetiracetam, lamotrigine, oxcarbazepine, tiagabine, topiramate, vigabatrin, or zonisamide), amygdalohippocampectomy, anti-epileptic drug withdrawal for people in remission, anti-epileptic drugs after a single seizure, biofeedback, carbamazepine, cognitive behavioural therapy (CBT), educational programmes, family counselling, hemispherectomy, lesionectomy, phenobarbital, phenytoin, relaxation therapy (alone or plus

  1. Cingulate Epilepsy

    Science.gov (United States)

    Alkawadri, Rafeed; So, Norman K.; Van Ness, Paul C.; Alexopoulos, Andreas V.

    2016-01-01

    IMPORTANCE The literature on cingulate gyrus epilepsy in the magnetic resonance imaging era is limited to case reports and small case series. To our knowledge, this is the largest study of surgically confirmed epilepsy arising from the anterior or posterior cingulate region. OBJECTIVE To characterize the clinical and electrophysiological findings of epilepsies arising from the anterior and posterior cingulate gyrus. DESIGN, SETTING, AND PARTICIPANTS We studied consecutive cingulate gyrus epilepsy cases identified retrospectively from the Cleveland Clinic and University of Texas Southwestern Medical Center epilepsy databases from 1992 to 2009. Participants included 14 consecutive cases of cingulate gyrus epilepsies confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. MAIN OUTCOMES AND MEASURES The main outcome measure was improvement in seizure frequency following surgery. The clinical, video electroencephalography, neuroimaging, pathology, and surgical outcome data were reviewed. RESULTS All 14 patients had cingulate epilepsy confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. They were divided into 3 groups based on anatomical location of the lesion and corresponding seizure semiology. In the posterior cingulate group, all 4 patients had electroclinical findings suggestive of temporal origin of the epilepsy. The anterior cingulate cases were divided into a typical (Bancaud) group (6 cases with hypermotor seizures and infrequent generalization with the presence of fear, laughter, or severe interictal personality changes) and an atypical group (4 cases presenting with simple motor seizures and a tendency for more frequent generalization and less-favorable long-term surgical outcome). All atypical cases were associated with an underlying infiltrative astrocytoma. CONCLUSIONS AND RELEVANCE Posterior cingulate gyrus epilepsy may

  2. 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

  3. Facteurs pejoratifs de l'epilepsie absence de l'enfant au Centre ...

    African Journals Online (AJOL)

    sexe masculin, crises généralisées tonicocloniques associées, installation tardive) qui peuvent retentir sur le devenir psychosocial et assombrir le pronostic malgré une bonne maitrise des crises. Mots-clés: absence, Dakar, enfant, épilepsie, ...

  4. 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

  5. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

    NARCIS (Netherlands)

    Bok, Levinus A; Maurits, Natasha M; Willemsen, Michèl A; Jakobs, Cornelis; Teune, Laura K; Poll-The, Bwee Tien; de Coo, Irenaeus F; Toet, Mona C; Hagebeuk, Eveline E; Brouwer, Oebele F; van der Hoeven, Johannes H; Sival, Deborah A

    2010-01-01

    PURPOSE: Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine. PDE can be identified by increased urinary alpha-aminoadipic semialdehyde (α-AASA) concentrations and mutations in the ALDH7A1 (antiquitin) gene. Prompt

  6. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.

    NARCIS (Netherlands)

    Bok, L.A.; Maurits, N.M.; Willemsen, M.A.A.P.; Jakobs, C.; Teune, L.K.; Poll-The, B.T.; Coo, I.F.M. de; Toet, M.C.; Hagebeuk, E.E.; Brouwer, O.F.; Hoeven, J.H. van; Sival, D.A.

    2010-01-01

    PURPOSE: Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine. PDE can be identified by increased urinary alpha-aminoadipic semialdehyde (alpha-AASA) concentrations and mutations in the ALDH7A1 (antiquitin) gene. Prompt

  7. [The mapping of spike-wave discharges in WAG/Rij rats (a genetic strain of absence epilepsy)].

    Science.gov (United States)

    Kuznetsova, G D; Spiridonov, A M

    1998-01-01

    The electrical activity of different cortical areas was recorded in 37 WAG/Rij rats under conditions of chronic experiment. The typical for absence epilepsy spike-wave discharges occur in EEG of all the animals of the strain. The average amplitude distribution maps were constructed based on the recording of two main components of the spike-wave discharge. The most frequently occurring discharges of 5-9 s in duration were taken for map construction. Separate maps were constructed for the beginning and for the end a discharge. It was shown that at the beginning of a discharge the maximum of spike amplitude was localized in the frontal cortical area in the site of localization of the eye, vibrissa and chewing movement centers. At the same time, the wave was better pronounced in the occipital cortical areas. At the end of a discharge spike amplitude diminished and the cortical square over which it was manifested was cut down. On the contrary, at the end of a discharge were amplitude increased and the area of its distinct recording spread to the frontal cortical areas. The wave amplitude maximum was observed over the cortical areas 17. The obtained evidence suggest the relatively independent spatio-temporal dynamics of the two main components of the spike-wave discharge complex.

  8. An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.

    Science.gov (United States)

    Yalçin, Ozlem; Baykan, Betül; Ağan, Kadriye; Yapici, Zuhal; Yalçin, Destina; Dizdarer, Gülşen; Türkdoğan, Dilşad; Ozkara, Ciğdem; Unalp, Aycan; Uludüz, Derya; Gül, Günay; Kuşcu, Demet; Ayta, Semih; Tutkavul, Kemal; Comu, Sinan; Tatli, Burak; Meral, Cihan; Bebek, Nerses; Cağlayan, Server Hande

    2011-05-01

    To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls. Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing. An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (JAE) syndrome and patients having generalized tonic-clonic seizures (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons). DNA sequence analysis of the INHA gene in 110 JAE/GTCS patients revealed three point mutations with possible damaging effects on inhibin function in three patients and the presence of a common ACTC haplotype (H1) with a possible dominant protective role conferred by the T allele of rs7588807 with respective p-values of 0.0005 and 0.0014. The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

  9. The role of the substantia nigra pars reticulata in kindling resistance in rats with genetic absence epilepsy.

    Science.gov (United States)

    Akman, Ozlem; Gulcebi, Medine I; Carcak, Nihan; Ketenci Ozatman, Sema; Eryigit, Tugba; Moshé, Solomon L; Galanopoulou, Aristea S; Onat, Filiz Yilmaz

    2015-11-01

    Genetic Absence Epilepsy Rats from Strasbourg (GAERS) show a resistance to secondary generalization of focal limbic seizures evoked by kindling. The substantia nigra pars reticulata (SNR) is involved in the propagation and modulation of seizures in kindling. We first examined the role of the SNRanterior and SNRposterior subregions in the resistance to the development of kindling in GAERS. Subsequently, to determine whether kindling resistance relates to differential sensitivity of γ-aminobutyric acid γ-aminobutyric acid (GABA)ergic or dopaminergic SNR neurons to kindling, we studied the effects of kindling-inducing stimulations on parvalbumin (PRV; GABAergic neuron marker) or tyrosine hydroxylase (TH; dopaminergic neuron marker) immunoreactivity (ir), respectively, in GAERS and in nonepileptic control (NEC) Wistar rats that lack kindling resistance. Adult male GAERS were implanted with a stimulation electrode in the amygdala, and bilateral injection cannulas for lidocaine or saline injection (30 min before each kindling stimulation until the animals reached three stage 5 seizures or the 22 stimulations) into the SNRanterior or SNRposterior . In another experiment, PRV-ir in SNRanterior and SNRposterior and TH-ir in SNRposterior only were densitometrically compared in GAERS-SHAM, NEC-SHAM GAERS-STIM, and NEC-STIM animals (6 kindling stimulations). Bilateral SNRposterior infusions of lidocaine eliminated the kindling resistance and resulted in stage 5 generalized motor seizures in all kindled rats. Bilateral lidocaine infusions in the SNRanterior failed to alter the kindling resistance in GAERS. PRV-ir in the SNRposterior was unaltered in GAERS-STIM but increased in NEC-STIM group. Cellular TH-ir in the SNRposterior significantly increased by kindling stimulations in both NEC-STIM and GAERS-STIM groups. The kindling resistance in GAERS is mediated by the SNRposterior in a lidocaine-sensitive manner. The insensitivity to kindling stimulation of PRV-ir in

  10. Elevated sterol regulatory elementary binding protein 1 and GluA2 levels in the hippocampal nuclear fraction of Genetic Absence Epilepsy Rats from Strasbourg.

    Science.gov (United States)

    Sekar, Sathiya; Omran, Entesar; Gopalakrishnan, Venkat; Howland, John G; Snutch, Terrance P; Taghibiglou, Changiz

    2017-10-01

    Studies in animal models and human tissues show that nuclear translocation of sterol regulatory element binding protein 1 (SREBP1) and glutamate A2 subunit (GluA2) of cell-surface AMPA receptor (AMPAR) trigger neuronal excitotoxicity-induced apoptosis in stroke. However, it is not known whether a similar type of underlying pathophysiology occurs in absence epilepsy. To explore this issue, we examined the levels of mature SREBP1, GluA2, glyceraldehyde 3-phosphate dehydrogenase (GAPDH), p53, and activated to total caspase 3 ratio in nuclear fractions (NF) of hippocampal homogenate from 8 to 10 week old male Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and non-epileptic control (NEC) strains. Mature SREBP1 and GluA2 levels were elevated approximately two-fold in NFs of GAERS hippocampal homogenates compared to NEC animals. Significant increases in GAPDH (∼15-fold) and total caspase 3 (∼10-fold) levels were also found in NFs of GAERS hippocampal homogenates in comparison to the non-epileptic strain. Data from the current study suggest that absence epilepsy in GAERS is associated with nuclear translocation of mature SREBP1, GluA2 subunit of AMPARs, and recruitment of pro-cell death signaling proteins such as GAPDH and caspase 3. These changes may contribute to hippocampal neuronal/glial cell death in GAERS. Therefore, inhibiting the nuclear accumulation of mature SREBP1 and GluA2 translocation may reduce the pathophysiology of absence epilepsy. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Interictal ripples nested in epileptiform discharge help to identify the epileptogenic zone in neocortical epilepsy.

    Science.gov (United States)

    Wang, Shuang; So, Norman K; Jin, Bo; Wang, Irene Z; Bulacio, Juan C; Enatsu, Rei; Dai, Shenyi; Chen, Zhong; Gonzalez-Martinez, Jorge; Najm, Imad M

    2017-06-01

    This study aimed to identify the subtype of interictal ripples that help delineate the epileptogenic zone in neocortical epilepsy. Totally 25 patients with focal neocortical epilepsy who had invasive electroencephalography (EEG) evaluation and subsequent surgery were included. They were followed up for at least 2years. Interictal ripples (80-250Hz) and fast ripples (250-500Hz) during slow-wave sleep were identified. Neocortical ripples were defined as type I ripples when they were superimposed on epileptiform discharges, and as type II ripples when they occurred independently. Resection ratio was calculated to present the extent to which the cortical area showing an interictal event or the seizure onset zone (SOZ) was completely removed. Fast ripples and types I and II ripples were found in 8, 19, and 21 patients, respectively. Only the higher resection ratio of interictal fast or type I ripples was correlated to the Engel 1a surgical outcome. Type I ripples could assist in localizing the epileptogenic zone in neocortical epilepsy. Type I and fast ripples both may be pathological high-frequency oscillations. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  12. Epilepsia de ausencia de inicio precoz: a propósito de un caso Absence epilepsy of early onset: a case presentation

    Directory of Open Access Journals (Sweden)

    Ileana Valdivia Álvarez

    2007-09-01

    Full Text Available Se presenta un caso de epilepsia de ausencia de inicio antes de los 2 años de edad, que requirió múltiples drogas antiepilépticas. Se revisa la bibliografía sobre el tema y se profundiza en las actuales variaciones de los criterios diagnósticos en relación con los síndromes de ausencia epiléptica y las variantes de presentación que pueden ser causa de errores diagnósticos y terapéuticos. Se confirma el importante papel de la monitorización electroencefalográfica y videoelectroencefalográfica como herramienta diagnóstica en las epilepsias de presentación poco común en la infancia. Se revisan los factores etiológicos polimórficos actuales, el papel de los canales iónicos y el uso de las drogas antiepilépticas en la ausencia infantil.A case of absence epilepsy that began before the second year of life and required many antiepileptic drugs was presented. A literature review was made on this topic, delving into the present variations of diagnostic criteria related to epileptic absence syndromes and their various presentations that may derive from diagnostic and therapeutical mistakes. The important role of electroencephalographic and videoelectroencephalographic monitoring as a diagnosing tool in rare epilepsies in childhood was confirmed. The present etiological polymorphic factors, the role of ion channels and the use of antiepileptic drugs in infantile absence epilepsy were reviewed.

  13. Epilepsy - children

    Science.gov (United States)

    Seizure disorder - children; Convulsion - childhood epilepsy; Medically refractory childhood epilepsy; Anticonvulsant - childhood epilepsy; Antiepileptic drug - childhood epilepsy; AED - childhood epilepsy

  14. Confounding diagnoses in the neurodevelopmental disabilities population: a child with hearing loss, absence epilepsy, and attention-deficit hyperactivity disorder (ADHD).

    Science.gov (United States)

    Lance, Eboni I; Shapiro, Bruce K

    2013-05-01

    We report the case of a school-age child with a history of hearing loss presenting with staring spells. Electroencephalography (EEG) revealed a pattern consistent with absence epilepsy, and the patient was started on antiepileptic medication with decreased frequency of staring spells but he then continued to have behavioral issues. The patient was diagnosed subsequently with combined-type attention-deficit hyperactivity disorder (ADHD) and started on stimulant medication with subsequent improvement in attention and school performance. Multiple confounding diagnoses are common in children with neurodevelopmental disabilities, and comprehensive evaluation is required for appropriate management.

  15. 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.)

  16. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

    Science.gov (United States)

    Venkateswaran, Sunita; Myers, Ken A; Smith, Amanda C; Beaulieu, Chandree L; Schwartzentruber, Jeremy A; Majewski, Jacek; Bulman, Dennis; Boycott, Kym M; Dyment, David A

    2014-07-01

    We present a 4-year-old girl with profound global developmental delay and refractory epilepsy characterized by multiple seizure types (partial complex with secondary generalization, tonic, myoclonic, and atypical absence). Her seizure semiology did not fit within a specific epileptic syndrome. Despite a broad metabolic and genetic workup, a diagnosis was not forthcoming. Whole-exome sequencing with a trio analysis (affected child compared to unaffected parents) was performed and identified a novel de novo missense mutation in GRIN2A, c.2449A>G, p.Met817Val, as the likely cause of the refractory epilepsy and global developmental delay. GRIN2A encodes a subunit of N-methyl-d-aspartate (NMDA) receptor that mediates excitatory transmission in the central nervous system. A significant reduction in the frequency and the duration of her seizures was observed after the addition of topiramate over a 10-month period. Further prospective studies in additional patients with mutations in GRIN2A will be required to optimize seizure management for this rare disorder. This report expands the current phenotype associated with GRIN2A mutations. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  17. [Age-related changes in time-frequency structure of sleep spindles in EEG in rats with genetic predisposition to absence epilepsy (Wag/Rij)].

    Science.gov (United States)

    Sitnikova, E Iu; Grubov, V V; Khramov, A E; Koronovskiĭ, A A

    2012-01-01

    It is known that sleep spindles are produced by thalamo-cortical system spontaneously during the slow-wave sleep; pathological processes in thalamo-cortical network might cause absence epilepsy. The aim of this study was to examine age-dependent changes in time-frequency structure of sleep spindles in parallel to a progressive increase in amount of absence seizures in WAG/Rij rat model. EEG was consistently recorded at the age of 5, 7 and 9 months by means of epidural electrodes implanted in the frontal cortex. Continuous wavelet transform was used for automatic identification and further time-frequency analysis of sleep spindles in EEG. It was found that the mean duration of epileptic discharges and total duration of epileptic activity increased with age, whereas the length of sleep spindles decreased. Mean frequency of oscillations within a spindle was used as a criterion for dividing sleep spindles in three categories: "slow" (9.3 Hz), "tr ansitional" (11.4 Hz) and "fast" (13.5 Hz). "Slow" and "transitional" spindles in 5-months animals displayed an increase in frequency from the beginning towards the end. It was shown that the higher incidence of epilepsy corresponded to the lower duration of sleep spindles (all types). Mean frequency of "transitional" and "fast" spindles was higher in rats with more intensive epileptic discharges. In general, high epileptic activity in WAG/Rij rats corresponded to the most substantial changes within "transitional" spindles, whereas changes within slow and fast spindles were moderate.

  18. On-off intermittency of thalamo-cortical neuronal network oscillations in the electroencephalogram of rodents with genetic predisposition to absence epilepsy

    Science.gov (United States)

    Hramov, Alexander E.; Grubov, Vadim V.; Pavlov, Alexey N.; Sitnikova, Evgenija Yu.; Koronovskii, Alexey A.; Runnova, Anastasija E.; Shurugina, Sveltlana A.; Ivanov, Alexey V.

    2013-02-01

    Spike-wave discharges are electroencephalographic hallmarks of absence epilepsy. Spike-wave discharges are known to originate from thalamo-cortical neuronal network that normally produces sleep spindle oscillations. Although both sleep spindles and spike-wave discharges are considered as thalamo-cortical oscillations, functional relationship between them is still uncertain. The present study describes temporal dynamics of spike-wave discharges and sleep spindles as determined in long-time electroencephalograms (EEG) recorded in WAG/Rij rat model of absence epilepsy. We have proposed the wavelet-based method for the automatic detection of spike-wave discharges, sleep spindles (10-15Hz) and 5-9Hz oscillations in EEG. It was found that non-linear dynamics of spike-wave discharges and sleep spindles fits well to the law of 'on-off intermittency'. Intermittency in sleep spindles and spike-wave discharges implies that (1) temporal dynamics of these oscillations are deterministic in nature, and (2) it might be controlled by a system-level mechanism responsible for circadian modulation of neuronal network activity.

  19. [Juvenile myoclonic epilepsy: under-diagnosed syndrome].

    Science.gov (United States)

    Bozić, Ksenija; Bukurov, Ksenija Gebauer; Slankamenac, Petar; Pogancev, Marija Knezević; Sekulić, Slobodan

    2011-01-01

    Juvenile myoclonic epilepsy is an idiopathic, hereditary form of epilepsy. Although juvenile myoclonic epilepsy is a well defined clinical syndrome, attempts at diagnosing it commonly fail. ETIOPATHOGENESIS: The exact cause of juvenile myoclonic epilepsy remains unknown. Clinical, morphological and metabolic data suggest a preferential role for frontal regions in this syndrome. Several major genes for juvenile myoclonic epilepsy have been identified, but these genes account for only a small proportions of juvenile myoclonic epilepsy cases, suggesting multifactorial or complex inheritance in most. Juvenile myoclonic epilepsy is characterized by the triad of myoclonic jerks on awakening (all patients), generalized tonic-clonic seizures (> 90% of patients) and typical absences (about one third of patients). Seizures have an age-related onset, circadian distribution and are frequently precipitated by sleep deprivation, fatigue and alcohol intake. Intelligence is normal. Juvenile myoclonic epilepsy diagnosis is based upon clinical criteria and typical electroencephalographic findings (generalized pattern of spikes and/or polyspikes and waves). All other tests are normal. Both medical treatment and counselling are important in the management of juvenile myoclonic epilepsy. Mono-therapy with valproate is the preferred treatment. Some of the newer antiepileptic drugs have been suggested as possible alternatives. Juvenile myoclonic epilepsy has a good prognosis. Lifelong treatment is usually considered necessary in vast majority of patients due to the increased risk of relapse if treatment is discontinued. Juvenile myoclonic epilepsy is a common, although under-diagnosed epileptic syndrome. The clinician should study the occurrence of myoclonic jerks and should consider atypical presentations.

  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. 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.

  2. Ameliorating effects of aripiprazole on cognitive functions and depressive-like behavior in a genetic rat model of absence epilepsy and mild-depression comorbidity.

    Science.gov (United States)

    Russo, Emilio; Citraro, Rita; Davoli, Alessandro; Gallelli, Luca; Di Paola, Eugenio Donato; De Sarro, Giovambattista

    2013-01-01

    Aripiprazole (APZ) is regarded as a first-line atypical antipsychotic used for the treatment of first and multiple episodes of schizophrenia to improve positive- and negative-symptoms. Its therapeutic indications were extended to acute manic and mixed episodes associated with bipolar disorder. In addition, APZ was approved as an adjunct therapy for major depressive disorder in 2007. Compared to other antipsychotic drugs, APZ has a unique pharmacological profile. It is a partial agonist at D₂ dopamine receptors and serotonin 5-HT(1A) and 5-HT₇ receptors, whereas it is an antagonist at serotonin 5-HT(2A) and 5-HT₆ receptors. Since epilepsy is often accompanied with neurological comorbidities such as depression, anxiety and cognitive deficits caused by both the disease and/or drug treatment, we wished to examine the effects of a sub-chronic treatment (>14 consecutive days) with APZ (0.3, 1 and 3 mg/kg; i.p.) on both absence seizures and WAG/Rij rat's behavior using different standard paradigms: Open field (OF) test, elevated plus maze (EPM) test, forced swimming (FS) test, sucrose consumption (SC) test and Morris water maze (MWM). WAG/Rij rats represent a validated genetic animal model of absence epilepsy with mild-depression comorbidity, also including other behavioral alterations. APZ treatment showed some anti-absence properties and regarding the behavioral comorbidity in this rat strain, we observed that APZ possesses clear antidepressant effects in the FS and SC tests also increasing memory/learning function in the Morris water maze test. In the two anxiety models used, APZ showed only minor effects. In conclusion, our results indicate that APZ might actually have a potential in treating absence seizures or as add-on therapy but more interestingly, these effect might be accompanied by positive modulatory actions on depression, anxiety and memory which might be also beneficial in other epileptic syndromes. This article is part of a Special Issue entitled

  3. Antidepressants but not antipsychotics have antiepileptogenic effects with limited effects on comorbid depressive-like behaviour in the WAG/Rij rat model of absence epilepsy.

    Science.gov (United States)

    Citraro, Rita; Leo, Antonio; De Fazio, Pasquale; De Sarro, Giovambattista; Russo, Emilio

    2015-06-01

    Two of the most relevant unmet needs in epilepsy are represented by the development of disease-modifying drugs able to affect epileptogenesis and/or the study of related neuropsychiatric comorbidities. No systematic study has investigated the effects of chronic treatment with antipsychotics or antidepressants on epileptogenesis. However, such drugs are known to influence seizure threshold. We evaluated the effects of an early long-term treatment (ELTT; 17 weeks), started before seizure onset (P45), with fluoxetine (selective 5-HT-reuptake inhibitor), duloxetine (dual-acting 5-HT-noradrenaline reuptake inhibitor), haloperidol (typical antipsychotic drug), risperidone and quetiapine (atypical antipsychotic drugs) on the development of absence seizures and comorbid depressive-like behaviour in the WAG/Rij rat model. Furthermore, we studied the effects of these drugs on established absence seizures in adult (6-month-old) rats after a chronic 7 weeks treatment. ELTT with all antipsychotics did not affect the development of seizures, whereas, both ELTT haloperidol (1 mg · kg(-1) day(-1)) and risperidone (0.5 mg · kg(-1) day(-1)) increased immobility time in the forced swimming test and increased absence seizures only in adult rats (7 weeks treatment). In contrast, both fluoxetine (30 mg · kg(-1) day(-1)) and duloxetine (10-30 mg · kg(-1) day(-1)) exhibited clear antiepileptogenic effects. Duloxetine decreased and fluoxetine increased absence seizures in adult rats. Duloxetine did not affect immobility time; fluoxetine 30 mg · kg(-1) day(-1) reduced immobility time while at 10 mg · kg(-1) day(-1) an increase was observed. In this animal model, antipsychotics had no antiepileptogenic effects and might worsen depressive-like comorbidity, while antidepressants have potential antiepileptogenic effects even though they have limited effects on comorbid depressive-like behaviour. © 2015 The British Pharmacological Society.

  4. Synchronicity and Rhythmicity of Purkinje Cell Firing during Generalized Spike-and-Wave Discharges in a Natural Mouse Model of Absence Epilepsy Complex Spike Synchronicity during GSWDs

    Directory of Open Access Journals (Sweden)

    Lieke Kros

    2017-10-01

    Full Text Available Absence epilepsy is characterized by the occurrence of generalized spike and wave discharges (GSWDs in electrocorticographical (ECoG recordings representing oscillatory activity in thalamocortical networks. The oscillatory nature of GSWDs has been shown to be reflected in the simple spike activity of cerebellar Purkinje cells and in the activity of their target neurons in the cerebellar nuclei, but it is unclear to what extent complex spike activity is implicated in generalized epilepsy. Purkinje cell complex spike firing is elicited by climbing fiber activation and reflects action potential firing in the inferior olive. Here, we investigated to what extent modulation of complex spike firing is reflected in the temporal patterns of seizures. Extracellular single-unit recordings in awake, head-restrained homozygous tottering mice, which suffer from a mutation in the voltage-gated CaV2.1 calcium channel, revealed that a substantial proportion of Purkinje cells (26% showed increased complex spike activity and rhythmicity during GSWDs. Moreover, Purkinje cells, recorded either electrophysiologically or by using Ca2+-imaging, showed a significant increase in complex spike synchronicity for both adjacent and remote Purkinje cells during ictal events. These seizure-related changes in firing frequency, rhythmicity and synchronicity were most prominent in the lateral cerebellum, a region known to receive cerebral input via the inferior olive. These data indicate profound and widespread changes in olivary firing that are most likely induced by seizure-related activity changes in the thalamocortical network, thereby highlighting the possibility that olivary neurons can compensate for pathological brain-state changes by dampening oscillations.

  5. About Epilepsy

    Science.gov (United States)

    ... Health Care » Epilepsy Centers of Excellence » About Epilepsy Epilepsy Centers of Excellence Menu Menu Epilepsy Centers of ... ZIP code here Enter ZIP code here About Epilepsy What is epilepsy? What are seizures? Epilepsy vs ...

  6. 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.

  7. Evaluation of effects of T and N type calcium channel blockers on the electroencephalogram recordings in Wistar Albino Glaxo/Rij rats, an absence epilepsy model.

    Science.gov (United States)

    Durmus, Nedim; Gültürk, Sefa; Kaya, Tijen; Demir, Tuncer; Parlak, Mesut; Altun, Ahmet

    2015-01-01

    It is suggested that excessive calcium entry into neurons is the main triggering event in the initiation of epileptic discharges. We aimed to investigate the role of T and N type calcium channels in absence epilepsy experimental model. Wistar Albino Glaxo/Rij (WAG/Rij) rats (12-16 weeks old) were randomly allocated into four groups; sham, mibefradil (T type calcium channel blocker), w-Conotoxin MVIIA (N type calcium channel blocker), and mibefradil + w-Conotoxin MVIIA. Beta, alpha, theta, and delta wave ratios of EEG recordings and frequency and duration of spike wave discharges (SWDs) were analyzed and compared between groups. Beta and delta recording ratios in 1 μM/5 μl mibefradil group was significantly different from basal and other dose-injected groups. Beta, alpha, and theta recordings in 0.2 μM/5 μl w-Conotoxin MVIIA group was significantly different from basal and other dose-injected groups. In w-Conotoxin MVIIA after mibefradil group, beta, alpha, and theta recording ratios were significantly different from basal and mibefradil group. Mibefradil and w-Conotoxin MVIIA significantly decreased the frequency and duration of SWDs. The decrease of frequency and duration of SWDs in mibefradil group was significantly different from w-Conotoxin MVIIA group. The frequency and duration of SWDs significantly decreased in w-Conotoxin MVIIA after mibefradil group compared with basal, mibefradil, and w-Conotoxin MVIIA groups. We concluded that both T and L type calcium channels play activator roles in SWDs and have positive effects on frequency and duration of these discharges. These results are related with their central effects more than peripheral effects.

  8. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

    Science.gov (United States)

    Bi, Weimin; Glass, Ian A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Sun, Angela

    2016-08-01

    Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. The molecular diagnosis of this condition has thus far only been made in 16 Old Order Mennonite patients carrying a homozygous 7 kb founder deletion of exons 9-13 of STRADA. We performed clinical whole exome sequencing (WES) on a 4-year-old Indian male with global developmental delay, history of failure to thrive, infantile spasms, repetitive behaviors, hypotonia, low muscle mass, marked joint laxity, and dysmorphic facial features including tall forehead, long face, arched eyebrows, small chin, wide mouth, and tented upper lip. A homozygous single nucleotide duplication, c.842dupA (p.D281fs), in exon 10 of STRADA was identified. Sanger sequencing confirmed the mutation in the individual and identified both parents as carriers. In light of the molecular discoveries, the patient's clinical phenotype was considered to be a good fit for PMSE. We identified for the first time a homozygous point mutation in STRADA causing PMSE. Additional bi-allelic mutations related to PMSE thus far have not been observed in Baylor ∼6,000 consecutive clinical WES cases, supporting the rarity of this disorder. Our findings may have treatment implications for the patient since previous studies have shown rapamycin as a potential therapeutic agent for the seizures and cognitive problems in PMSE patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. 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)

  10. Clinical and electroencephalographic characteristics of a cohort of patients with epilepsy and absence seizures Características clínicas e eletrencefalográficas de uma coorte de pacientes com epilepsia com crises de ausência

    Directory of Open Access Journals (Sweden)

    Soniza Vieira Alves-Leon

    2009-12-01

    Full Text Available BACKGROUND: Epileptic syndromes with absence seizures (AS possess unique clinical and electroencephalographic (EEG characteristics. In typical or atypical AS, ictal phenomenology may include various characteristics. Vídeo-EEG monitoring enables findings to be correlated with ictal phenomenology. OBJECTIVE: To evaluate the different AS in a cohort of patients with drug-resistant epilepsy (DRE based on the International League against Epilepsy (ILAE's 2006 classification, to correlate with ictal phenomenology recorded and to apply the Panayiotopoulos criteria. METHOD: This study included patients with criteria of AS followed up at the Epilepsy Clinic. A dual, cross-sectional cohort study was carried out between 2005 and 2008. Patients receiving care in the Epilepsy Program of the HUCFF-UFRJ, who had been investigated by video-EEG and who presented clinical and EEG criteria for absence seizures, typical or atypical, according to the criteria defined by the ILAE, were included in the study, independent of age onset, the review of clinical history, age onset, family history, epilepsy onset and evolution, seizures phenomenology, antiepileptic drugs response and neuroimaging studies were used to classify the patients among the different epileptic syndrome associated to absence seizures. RESULTS: Typical absences were more frequent (71.4% than atypical absences. Cases of juvenile absence epilepsy were the most frequent (19% in this series, followed by childhood absence epilepsy (14.4% and juvenile myoclonic epilepsy (4.8%. In 14 patients (66.67%, diagnosis was modified from focal epilepsy to primary generalized epilepsy. Clinical and EEG diagnosis of absence epilepsy resulted in a dramatic improvement in the control of seizures following modification of diagnosis and indication of an appropriate antiepileptic drug. CONCLUSION: Our results show that typical AS are more frequent than atypical. AS was successfully defined in 10 patients following

  11. 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

  12. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

    Science.gov (United States)

    Korenke, Georg-Christoph; Eggert, Marlene; Thiele, Holger; Nürnberg, Peter; Sander, Thomas; Steinlein, Ortrud K

    2016-03-01

    Mutations in NPRL3, one of three genes that encode proteins of the mTORC1-regulating GATOR1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. We have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (NM_001077350.2; c.1522delG; p.E508Rfs*46) within exon 13 of NPRL3. This truncating mutation causes an epilepsy phenotype characterized by early childhood onset of mainly nocturnal frontal lobe epilepsy. The penetrance in our family was low (three affected out of six mutation carriers), compared to families with either ion channel- or DEPDC5-associated familial nocturnal frontal lobe epilepsy. The absence of apparent structural brain abnormalities suggests that mutations in NPRL3 are not necessarily associated with focal cortical dysplasia but might be able to cause epilepsy by different, yet unknown pathomechanisms. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  13. Intelligent Technique for Signal Processing to Identify the Brain Disorder for Epilepsy Captures Using Fuzzy Systems

    Directory of Open Access Journals (Sweden)

    Gurumurthy Sasikumar

    2016-01-01

    Full Text Available The new direction of understand the signal that is created from the brain organization is one of the main chores in the brain signal processing. Amid all the neurological disorders the human brain epilepsy is measured as one of the extreme prevalent and then programmed artificial intelligence detection technique is an essential due to the crooked and unpredictable nature of happening of epileptic seizures. We proposed an Improved Fuzzy firefly algorithm, which would enhance the classification of the brain signal efficiently with minimum iteration. An important bunching technique created on fuzzy logic is the Fuzzy C means. Together in the feature domain with the spatial domain the features gained after multichannel EEG signals remained combined by means of fuzzy algorithms. And for better precision segmentation process the firefly algorithm is applied to optimize the Fuzzy C-means membership function. Simultaneously for the efficient clustering method the convergence criteria are set. On the whole the proposed technique yields more accurate results and that gives an edge over other techniques. This proposed algorithm result compared with other algorithms like fuzzy c means algorithm and PSO algorithm.

  14. 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...... 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...... genotyping platforms across sites, investigators at each site conducted a linear mixed-model association analysis for each dataset. Combining summary statistics, we conducted fixed-effects meta-analyses of all epilepsy, focal epilepsy, and genetic generalised epilepsy. We set the genome-wide significance...

  15. Investigation of GRIN2A in common epilepsy phenotypes

    DEFF Research Database (Denmark)

    Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian

    2015-01-01

    Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A...... mutations by investigating patients with the two most common epilepsy syndromes: (i) idiopathic generalized epilepsy (IGE) and (ii) temporal lobe epilepsy (TLE). Whole exome sequencing data of 238 patients with IGE as well as Sanger sequencing of 84 patients with TLE were evaluated for GRIN2A sequence...... alterations. Two additional independent cohorts comprising 1469 IGE and 330 TLE patients were screened for structural deletions (>40kb) involving GRIN2A. Apart from a presumably benign, non-segregating variant in a patient with juvenile absence epilepsy, neither mutations nor deletions were detected in either...

  16. Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

    Science.gov (United States)

    Urbizu, Aintzane; Cuenca-León, Ester; Raspall-Chaure, Miquel; Gratacòs, Margarida; Conill, Joan; Redecillas, Susana; Roig-Quilis, Manuel; Macaya, Alfons

    2010-08-15

    We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological disorders including paroxysmal exercise-induced dyskinesia, migraine without or with aura, absence seizures and writer's cramp. CSF/serum glucose ratio was moderately decreased in both patients. Mutational analysis of SLC2A1 gene identified a de novo heterozygous missense mutation in exon 4. This novel mutation has been previously showed to disrupt glucose transport in vitro. Both patients showed immediate and near-complete response to ketogenic diet. This clinical observation suggests that a high index of suspicion for GLUT1 deficiency syndrome is warranted in evaluating patients with multiple neurological paroxysmal events. Copyright (c) 2010 Elsevier B.V. All rights reserved.

  17. Patient Education: Identifying Risks and Self-Management Approaches for Adherence and Sudden Unexpected Death in Epilepsy.

    Science.gov (United States)

    Shafer, Patricia Osborne; Buchhalter, Jeffrey

    2016-05-01

    Patient education in epilepsy is one part of quality epilepsy care and is an evolving and growing field. Health outcomes, patient satisfaction, safety, patient/provider communication, and quality of life may all be affected by what people are taught (or not taught), what they understand, and how they use this information to make decisions and manage their health. Data regarding learning needs and interventions to address medication adherence and sudden unexpected death in epilepsy education can be used to guide clinicians in health care or community settings. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. 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

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

    NARCIS (Netherlands)

    Roelen, C.A.M.; Magerøy, B.; Rhenen, van W.; Groothoff, J.W.; Klink, van der J.J.L.; Pallesen, S.

    2013-01-01

    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

  20. Inherited epilepsy in dogs.

    Science.gov (United States)

    Ekenstedt, Kari J; Oberbauer, Anita M

    2013-05-01

    Epilepsy is the most common neurologic disease in dogs and many forms are considered to have a genetic basis. In contrast, some seizure disorders are also heritable, but are not technically defined as epilepsy. Investigation of true canine epilepsies has uncovered genetic associations in some cases, however, many remain unexplained. Gene mutations have been described for 2 forms of canine epilepsy: primary epilepsy (PE) and progressive myoclonic epilepsies. To date, 9 genes have been described to underlie progressive myoclonic epilepsies in several dog breeds. Investigations into genetic PE have been less successful, with only 1 causative gene described. Genetic testing as an aid to diagnosis, prognosis, and breeding decisions is available for these 10 forms. Additional studies utilizing genome-wide tools have identified PE loci of interest; however, specific genetic tests are not yet developed. Many studies of dog breeds with PE have failed to identify genes or loci of interest, suggesting that, similar to what is seen in many human genetic epilepsies, inheritance is likely complex, involving several or many genes, and reflective of environmental interactions. An individual dog's response to therapeutic intervention for epilepsy may also be genetically complex. Although the field of inherited epilepsy has faced challenges, particularly with PE, newer technologies contribute to further advances. © 2013 Elsevier Inc. All rights reserved.

  1. Association mapping of genomic microdeletions and common susceptibility variants predisposing to genetic generalized epilepsies

    OpenAIRE

    Trucks, Holger Sebastian

    2013-01-01

    Approximately 3% of the general population is affected by epilepsy during lifetime, making epilepsy one of the most common neurological diseases. Genetic generalized epilepsies (GGE) are the most common of genetic epilepsies and account for 20-30% of all epilepsies. GGE is subdivided into genetically determined subgroups with gradual transition, including genetic absence epilepsies (GAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures (EG...

  2. Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.

    Science.gov (United States)

    Guo, Youling; Baum, Larry W; Sham, Pak Chung; Wong, Virginia; Ng, Ping Wing; Lui, Colin Hiu Tung; Sin, Ngai Chuen; Tsoi, Tak Hong; Tang, Clara S M; Kwan, Johnny S H; Yip, Benjamin H K; Xiao, Su-Mei; Thomas, G Neil; Lau, Yu Lung; Yang, Wanling; Cherny, Stacey S; Kwan, Patrick

    2012-03-01

    In the majority of patients, epilepsy is a complex disorder with multiple susceptibility genes interacting with environmental factors. However, we understand little about its genetic risks. Here, we report the first genome-wide association study (GWAS) to identify common susceptibility variants of epilepsy in Chinese. This two-stage GWAS included a total of 1087 patients and 3444 matched controls. In the combined analysis of the two stages, the strongest signals were observed with two highly correlated variants, rs2292096 [G] [P= 1.0 × 10(-8), odds ratio (OR) = 0.63] and rs6660197 [T] (P= 9.9 × 10(-7), OR = 0.69), with the former reaching genome-wide significance, on 1q32.1 in the CAMSAP1L1 gene, which encodes a cytoskeletal protein. We also refined a previously reported association with rs9390754 (P= 1.7 × 10(-5)) on 6q21 in the GRIK2 gene, which encodes a glutamate receptor, and identified several other loci in genes involved in neurotransmission or neuronal networking that warrant further investigation. Our results suggest that common genetic variants may increase the susceptibility to epilepsy in Chinese.

  3. 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.

  4. Epilepsy after Febrile Seizures

    DEFF Research Database (Denmark)

    Seinfeld, S. A.; Pellock, J M; Kjeldsen, Lone Marianne Juel

    2016-01-01

    Background A history of complex febrile seizures can increase the risk of epilepsy, but the role of genetic factors is unclear. This analysis evaluated the relationship between febrile seizures and epilepsy. Methods Information on the history of seizures was obtained by a questionnaire from twin...... 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...... and emotional burden. It is currently not possible to accurately identify which children will develop recurrent febrile seizures, epilepsy, or neuropsychological comorbidities. © 2016 Elsevier Inc. All rights reserved....

  5. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

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

    1989-01-01

    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 as cont...... dysfunction in the epilepsy group, the mere presence of a chronic disorder with potential social stigmatization influences personality.......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...... 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...

  6. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

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

    1989-01-01

    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...... 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...... dysfunction in the epilepsy group, the mere presence of a chronic disorder with potential social stigmatization influences personality....

  7. Canine epilepsy genetics.

    Science.gov (United States)

    Ekenstedt, Kari J; Patterson, Edward E; Mickelson, James R

    2012-02-01

    There has been much interest in utilizing the dog as a genetic model for common human diseases. Both dogs and humans suffer from naturally occurring epilepsies that share many clinical characteristics. Investigations of inherited human epilepsies have led to the discovery of several mutated genes involved in this disease; however, the vast majority of human epilepsies remain unexplained. Mouse models of epilepsy exist, including single-gene spontaneous and knockout models, but, similar to humans, other, polygenic models have been more difficult to discern. This appears to also be the case in canine epilepsy genetics. There are two forms of canine epilepsies for which gene mutations have been described to date: the progressive myoclonic epilepsies (PMEs) and idiopathic epilepsy (IE). Gene discovery in the PMEs has been more successful, with eight known genes; six of these are orthologous to corresponding human disorders, while two are novel genes that can now be used as candidates for human studies. Only one IE gene has been described in dogs, an LGI2 mutation in Lagotto Romagnolos with a focal, juvenile remitting epilepsy. This gene is also a novel candidate for human remitting childhood epilepsy studies. The majority of studies of dog breeds with IE, however, have either failed to identify any genes or loci of interest, or, as in complex mouse and human IEs, have identified multiple QTLs. There is still tremendous promise in the ongoing canine epilepsy studies, but if canine IEs prove to be as genetically complex as human and murine IEs, then deciphering the bases of these canine epilepsies will continue to be challenging.

  8. Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12.

    Science.gov (United States)

    Grosso, Salvatore; Pucci, Lucia; Farnetani, MariAngela; Di Bartolo, Rosanna Maria; Galimberti, Daniela; Mostardini, Rosa; Anichini, Cecilia; Balestri, Martina; Morgese, Guido; Balestri, Paolo

    2004-08-01

    Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndrome. A peculiar electroclinical pattern has also been identified in trisomy 12p syndrome. We report three patients with a pericentric inversion of chromosome 12, with breakpoints localized to p11-q13 and affected by epilepsy or EEG anomalies. Two suffered from epilepsy, which, in the clinical course, was mainly characterized by complex partial seizures with a semiology related to the temporal lobe. In one patient, myoclonic absences, head drop, and massive jerky attacks were also present. In both patients, generalized 3 Hz bursts were registered, together with multifocal and focal paroxysmal activity, which were most prominent in the temporoparietal and temporal areas, respectively. In the other patient, who had no epilepsy, EEG showed bioccipital paroxysmal activity. In all patients, the clinical picture was characterized by the presence of moderate mental retardation and behavioral disorders. The incidence of epilepsy or EEG anomalies among patients with a pericentric inversion of chromosome 12 remains to be ascertained. However, the present study confirms that chromosome 12 anomalies can be associated with epilepsy. Although myoclonic absence-like episodes can occasionally be part of the epileptic phenotype, the electroclinical pattern in pericentric inversion of chromosome 12 seems to be more polymorphic when compared with that observed in trisomy 12p syndrome.

  9. 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

    Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic...

  10. When antiepileptic drugs aggravate epilepsy.

    Science.gov (United States)

    Genton, P

    2000-03-01

    Paradoxically, an antiepileptic drug (AED) may aggravate epilepsy. The number of AEDs is steadily increasing, and the occurrence of paradoxical aggravation will probably become a frequent problem. The overall status of the patient treated for epilepsy can be altered due to maladjustment to the diagnosis of epilepsy, to unwanted side-effects, to overdosage and to the occurrence of tolerance. However, the main mechanism of aggravation is the occurrence of an inverse pharmacodynamic effect. The specific effect of the AED is such that it controls epilepsy in most cases and increases seizures in other cases. Idiopathic generalised epilepsies (IGE) are particularly prone to pharmacodynamic aggravation: typical absences are constantly increased by carbamazepine (CBZ), vigabatrin, tiagabine, gabapentin, while phenytoin (PHT) is less aggravating. Juvenile myoclonic epilepsy is often aggravated by CBZ, less constantly by PHT and other AEDs. Generalised tonic-clonic seizures found in IGEs may respond to AEDs that aggravate the other seizure types. In symptomatic generalised epilepsies, patients have often several seizure types that respond differently to AEDs: myoclonias are generally aggravated by the same drugs that aggravated IGEs; tonic seizures in the Lennox-Gastaut syndrome respond to CBZ, which may however aggravate atypical absences. In severe myoclonic epilepsy of infancy, there is a nearly constant aggravating effect of lamotrigine. In some patients with benign rolandic epilepsy, a clear aggravation may be produced by CBZ, with occurrence of negative myoclonias, atypical absences, drop attacks, and at the maximum evolution into a state of electrical status epilepticus during sleep. It is much more difficult to pinpoint specific pharmacological sensitivity in other focal epilepsies, but aggravation clearly occurs. When treating epilepsy, the clinician should act according to seizure type, or, better, to epilepsy type. Patients are usually aware of aggravation before

  11. Mental health symptoms identify workers at risk of long-term sickness absence due to mental disorders : prospective cohort study with 2-year follow-up

    NARCIS (Netherlands)

    van Hoffen, Marieke F. A.; Joling, Catelijne I.; Heymans, Martijn W.; Twisk, Jos W. R.; Roelen, Corne A. M.

    2015-01-01

    Background: Mental health problems are a leading cause of long-term sickness absence (LTSA). Workers at risk of mental LTSA should preferably be identified before they report sick. The objective of this study was to examine mental health symptoms as predictors of future mental LTSA in non-sicklisted

  12. 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.)

  13. 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.

  14. Socioeconomic outcome of epilepsy surgery

    DEFF Research Database (Denmark)

    Jennum, Poul; Sabers, Anne; Christensen, Jakob

    2016-01-01

    PURPOSE: Epilepsy surgery has been a standard treatment for refractory epilepsies that cannot be controlled by standard medical treatment. We aimed to evaluate the health and social consequences of resective surgery relative to controls from a study of national data. METHODS: Using the Danish...... National Patient Registry we identified all subjects with an epilepsy diagnosis between 1996 and 2009 and compared them with a group of patients with an epilepsy diagnosis who had had neither epilepsy surgery nor a vagus stimulation diagnosis by the index date, and who were matched by gender, index year...... for epilepsy diagnosis, and index year for epilepsy surgery. We considered all the health and social information available in the Danish health, medication and social registers. The duration of follow-up was three years. RESULTS: 254 epilepsy patients and 989 controls were analyzed. Surgery patients were more...

  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. Right precordial-directed electrocardiographical markers identify arrhythmogenic right ventricular cardiomyopathy in the absence of conventional depolarization or repolarization abnormalities.

    Science.gov (United States)

    Cortez, Daniel; Svensson, Anneli; Carlson, Jonas; Graw, Sharon; Sharma, Nandita; Brun, Francesca; Spezzacatene, Anita; Mestroni, Luisa; Platonov, Pyotr G

    2017-10-13

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) carries a risk of sudden death. We aimed to assess whether vectorcardiographic (VCG) parameters directed toward the right heart and a measured angle of the S-wave would help differentiate ARVD/C with otherwise normal electrocardiograms from controls. Task Force 2010 definite ARVD/C criteria were met for all patients. Those who did not fulfill Task Force depolarization or repolarization criteria (-ECG) were compared with age and gender-matched control subjects. Electrocardiogram measures of a 3-dimentional spatial QRS-T angle, a right-precordial-directed orthogonal QRS-T (RPD) angle, a root mean square of the right sided depolarizing forces (RtRMS-QRS), QRS duration (QRSd) and the corrected QT interval (QTc), and a measured angle including the upslope and downslope of the S-wave (S-wave angle) were assessed. Definite ARVD/C was present in 155 patients by 2010 Task Force criteria (41.7 ± 17.6 years, 65.2% male). -ECG ARVD/C patients (66 patients) were compared to 66 control patients (41.7 ± 17.6 years, 65.2% male). All parameters tested except the QRSd and QTc significantly differentiated -ECG ARVD/C from control patients (p right-sided VCG or measured angle markers better than the spatial QRS-T angle, the QRSd or QTc, in the absence of Taskforce ECG criteria.

  17. FN-Identify: Novel Restriction Enzymes-Based Method for Bacterial Identification in Absence of Genome Sequencing.

    Science.gov (United States)

    Awad, Mohamed; Ouda, Osama; El-Refy, Ali; El-Feky, Fawzy A; Mosa, Kareem A; Helmy, Mohamed

    2015-01-01

    Sequencing and restriction analysis of genes like 16S rRNA and HSP60 are intensively used for molecular identification in the microbial communities. With aid of the rapid progress in bioinformatics, genome sequencing became the method of choice for bacterial identification. However, the genome sequencing technology is still out of reach in the developing countries. In this paper, we propose FN-Identify, a sequencing-free method for bacterial identification. FN-Identify exploits the gene sequences data available in GenBank and other databases and the two algorithms that we developed, CreateScheme and GeneIdentify, to create a restriction enzyme-based identification scheme. FN-Identify was tested using three different and diverse bacterial populations (members of Lactobacillus, Pseudomonas, and Mycobacterium groups) in an in silico analysis using restriction enzymes and sequences of 16S rRNA gene. The analysis of the restriction maps of the members of three groups using the fragment numbers information only or along with fragments sizes successfully identified all of the members of the three groups using a minimum of four and maximum of eight restriction enzymes. Our results demonstrate the utility and accuracy of FN-Identify method and its two algorithms as an alternative method that uses the standard microbiology laboratories techniques when the genome sequencing is not available.

  18. FN-Identify: Novel Restriction Enzymes-Based Method for Bacterial Identification in Absence of Genome Sequencing

    Directory of Open Access Journals (Sweden)

    Mohamed Awad

    2015-01-01

    Full Text Available Sequencing and restriction analysis of genes like 16S rRNA and HSP60 are intensively used for molecular identification in the microbial communities. With aid of the rapid progress in bioinformatics, genome sequencing became the method of choice for bacterial identification. However, the genome sequencing technology is still out of reach in the developing countries. In this paper, we propose FN-Identify, a sequencing-free method for bacterial identification. FN-Identify exploits the gene sequences data available in GenBank and other databases and the two algorithms that we developed, CreateScheme and GeneIdentify, to create a restriction enzyme-based identification scheme. FN-Identify was tested using three different and diverse bacterial populations (members of Lactobacillus, Pseudomonas, and Mycobacterium groups in an in silico analysis using restriction enzymes and sequences of 16S rRNA gene. The analysis of the restriction maps of the members of three groups using the fragment numbers information only or along with fragments sizes successfully identified all of the members of the three groups using a minimum of four and maximum of eight restriction enzymes. Our results demonstrate the utility and accuracy of FN-Identify method and its two algorithms as an alternative method that uses the standard microbiology laboratories techniques when the genome sequencing is not available.

  19. Juvenile myoclonic epilepsy: Under-diagnosed syndrome

    OpenAIRE

    Božić Ksenija; Gebauer-Bukurov Ksenija; Slankamenac Petar; Knežević-Pogančev Marija; Sekulić Slobodan

    2011-01-01

    Introduction. Juvenile myoclonic epilepsy is an idiopathic, hereditary form of epilepsy. Although juvenile myoclonic epilepsy is a well defined clinical syndrome, attempts at diagnosing it commonly fail. Etiopathogenesis. The exact cause of juvenile myoclonic epilepsy remains unknown. Clinical, morphological and metabolic data suggest a preferential role for frontal regions in this syndrome. Several major genes for juvenile myoclonic epilepsy have been identified, but these genes accoun...

  20. Management of refractory epilepsy.

    Science.gov (United States)

    Muñana, Karen R

    2013-05-01

    The term refractory epilepsy is utilized in veterinary medicine to describe a condition in which an animal with epilepsy fails to attain satisfactory seizure control or suffers intolerable side effects despite appropriate therapy with conventional antiepileptic drugs. Refractory epilepsy is an important problem in small animal practice as it occurs in approximately one-third of dogs with epilepsy. Consequently, there is much interest in identifying ways to more effectively treat this population of animals. More than a dozen new antiepileptic drugs have been approved for humans over the last 2 decades, and several of these drugs, including gabapentin, zonisamide, levetiracetam, and pregabalin, have been evaluated for the treatment of refractory seizures in veterinary patients. Nonmedical methods to treat poorly controlled epilepsy are also being explored. The 2 alternative forms of therapy that have shown the most promise in humans with epilepsy are electrical stimulation of the brain and dietary modification, both of which have also been evaluated in dogs. This overview summarizes the available data on pharmacologic as well as nonmedical treatment options for dogs and cats with refractory epilepsy. Although many forms of therapy are currently being utilized in clinical practice, our knowledge of the safety and efficacy of these treatments is limited. Additional randomized controlled trials are needed to better evaluate these novel therapies for refractory epilepsy in dogs and cats. © 2013 Elsevier Inc. All rights reserved.

  1. HLA-DQ-Gluten Tetramer Blood Test Accurately Identifies Patients With and Without Celiac Disease in Absence of Gluten Consumption.

    Science.gov (United States)

    Sarna, Vikas K; Lundin, Knut E A; Mørkrid, Lars; Qiao, Shuo-Wang; Sollid, Ludvig M; Christophersen, Asbjørn

    2017-11-14

    Celiac disease is characterized by HLA-DQ2/8-restricted responses of CD4+ T cells to cereal gluten proteins. A diagnosis of celiac disease based on serologic and histologic evidence and duodenal histology requires patients to be on gluten-containing diets. The growing number of individuals adhering to a gluten-free diet (GFD) without exclusion of celiac disease complicates its detection. HLA-DQ-gluten tetramers can be used to detect gluten-specific T cells in blood of patients with celiac disease, even if they are on a GFD. We investigated whether an HLA-DQ-gluten tetramer-based assay accurately identifies patients with celiac disease. We produced HLA-DQ-gluten tetramers and added them to peripheral blood mononuclear cells isolated from 143 HLA-DQ2.5+ subjects (62 subjects with celiac disease on a GFD, 19 subjects without celiac disease on a GFD [due to self-reported gluten sensitivity], 10 subjects with celiac disease on a gluten-containing diet, and 52 presumed healthy individuals [controls]). T cells that bound HLA-DQ-gluten tetramers were quantified by flow cytometry. Laboratory tests and flow cytometry gating analyses were performed by researchers blinded to sample type, except for samples from subjects with celiac disease on a gluten-containing diet. Test precision analyses were performed using samples from 10 subjects. For the HLA-DQ-gluten tetramer-based assay, we combined flow-cytometry variables in a multiple regression model that identified individuals with celiac disease on a GFD with an area under the receiver operating characteristic curve value of 0.96 (95% confidence interval [CI] 0.89-1.00) vs subjects without celiac disease on a GFD. The assay detected individuals with celiac disease on a gluten-containing diet vs controls with an area under the receiver operating characteristic curve value of 0.95 (95% CI 0.90-1.00). Optimized cutoff values identified subjects with celiac disease on a GFD with 97% sensitivity (95% CI 0.92-1.00) and 95

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

    Science.gov (United States)

    Seppälä, Eija H; Jokinen, Tarja S; Fukata, Masaki; Fukata, Yuko; Webster, Matthew T; Karlsson, Elinor K; Kilpinen, Sami K; Steffen, Frank; Dietschi, Elisabeth; Leeb, Tosso; Eklund, Ranja; Zhao, Xiaochu; Rilstone, Jennifer J; Lindblad-Toh, Kerstin; Minassian, Berge A; Lohi, Hannes

    2011-07-01

    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.

  3. LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

    Science.gov (United States)

    Seppälä, Eija H.; Jokinen, Tarja S.; Fukata, Masaki; Fukata, Yuko; Webster, Matthew T.; Karlsson, Elinor K.; Kilpinen, Sami K.; Steffen, Frank; Dietschi, Elisabeth; Leeb, Tosso; Eklund, Ranja; Zhao, Xiaochu; Rilstone, Jennifer J.; Lindblad-Toh, Kerstin; Minassian, Berge A.; Lohi, Hannes

    2011-01-01

    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. PMID:21829378

  4. 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.

  5. Fighting with Spirits: Migration Trauma, Acculturative Stress, and New Sibling Transition-A Clinical Case Study of an 8-Year-Old Girl with Absence Epilepsy.

    Science.gov (United States)

    Chartonas, Dimitrios; Bose, Ruma

    2015-12-01

    In this article, we discuss the impact of migration and acculturation processes on the cultural, personal identity, and mental health of children who immigrate to a Western, multicultural environment, and the challenges clinicians in such environments face, when confronted with non-Western idioms of distress and healing practices. We do that by presenting a challenging clinical case of an 8-year-old girl who presented with very disorganized behavior, which matches a culturally accepted construct of spirit possession, in the context of migration trauma, acculturative stress, and new sibling transition. We identify cultural conflict in school and bullying as major mediators between acculturative stress and mental distress. We also aim at identifying vulnerability, risk and protective factors, and the importance of cultural coping resources. We explore in depth the patient's cultural background and the family's belief system and culturally shaped narratives, in order to arrive at a cultural formulation, which focuses on the significance of idioms of distress in shaping psychopathology and influencing the personal and interpersonal course of trauma- and stress-related disorders. We also call attention to the finding that in children, idioms of distress may manifest themselves in a somatic manner. We argue, together with other researchers, that spirit possession deserves more interest as an idiom of distress and a culture-specific response to traumatizing events. We finally emphasize the importance of an anti-reductionist clinical stance, that is able to use different levels of understanding processes of distress and healing, and seeks to reconciliate cultural divides and integrate different explanatory frameworks and help-seeking practices.

  6. Models of experimental epilepsy

    Directory of Open Access Journals (Sweden)

    Fatih Ekici

    2011-03-01

    Full Text Available Epilepsy is the most common serious neurological conditionin the world, with an estimated prevalence of 1% ofthe population. A large number of experimental modelsof seizure and epilepsy have been developed. These experimentalmodels are elicited by chemical convulsants,electrical stimulation, genetic models, structural lesions,physical stimuli (cold, pressure, hyperthermia, electricalin animals. Well-characterized animal models may allowthe understanding of the basic mechanisms underlyingepileptogenesis (it refers to the alteration of a normalneuronal network into a hyperexcitable network in whichrecurrent, spontaneous seizures occur. Moreover, thesemodels might also prove useful in identifying novel therapeuticapproaches to treatment of epilepsy. J Clin ExpInvest 2011; 2(1: 118-123

  7. 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.

  8. Memory in children with symptomatic temporal lobe epilepsy.

    Science.gov (United States)

    Guimãraes, Catarina A; Rzezak, Patricia; Fuentes, Daniel; Franzon, Renata C; Montenegro, Maria Augusta; Cendes, Fernando; Valente, Kette D; Guerreiro, Marilisa M

    2014-03-01

    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. Obesity and its association with generalised epilepsy, idiopathic syndrome, and family history of epilepsy.

    Science.gov (United States)

    Ladino, Lady D; Hernández-Ronquillo, Lizbeth; Téllez-Zenteno, José F

    2014-09-01

    Aim. Previous studies support the concept that obesity is a common comorbid condition in patients with epilepsy (PWE). In this study, we present the body mass index (BMI) and data from a survey to assess physical activity in a sample of PWE from an epilepsy clinic. Methods. Between June of 2011 and January of 2013, 100 PWE from an adult epilepsy clinic were included. We obtained BMI, waist circumference, and information regarding physical activity using a standardised questionnaire. Clinical, demographic, electrographic, and imaging parameters were collected from charts. Results. Mean age of patients was 40 ± 14 (18-77) years. The BMI distribution was as follows: 2 patients (2%) underweight, 26 (26%) normal weight, 34 (34%) overweight, 25 (25%) obese, and 13 (13%) with morbid obesity. In our study, obesity was defined as having a BMI ≥ 30. We found 38 (38%) patients in this range. There was no difference in the rate of drug-resistant epilepsy between obese and non-obese patients (55 vs. 55%; p=0.05). Leisure time habit was reported in 82% of obese patients and 79% of patients without obesity. Overall, the most frequent activity was walking (70%). Factors associated with obesity were generalised epilepsy (OR: 2.7, 1.1-6.6; p=0.012), idiopathic syndrome (OR: 2.7, 1.04-7; p=0.018), and family history of epilepsy (OR: 6.1, 1.5-24.2; p=0.002). Conclusion. Our study suggests an association between obesity, idiopathic generalised epilepsy, and family history of epilepsy. Our study shows that PWE are physically active and there is no clear relation between exercise and obesity. We could not identify any association between drug-resistant epilepsy and obesity. Absence of direct comparison with a control non-epileptic population; a cross-sectional design not allowing evaluation of a causal association among variables; and reliance on self-reported physical activity are to be considered as limitations of the present study.

  10. Treatment of difficult epilepsy.

    Science.gov (United States)

    McTague, A; Appleton, R

    2011-02-01

    Most of the epilepsies that occur in children are relatively straightforward to manage, including suppression of the seizures. However, in at least 30% of children, seizures will not be fully controlled by one or two antiepileptic drugs (AEDs); these children may also have additional physical, educational or behavioural problems. This population is often labelled as having a "difficult" or an "intractable" epilepsy. The approach to these children must always begin with ensuring that the diagnosis of epilepsy is accurate, that the correct seizure type or types and epilepsy syndrome have been identified and that an underlying cause has been considered. Treatment must be holistic, considering the child as a person and not just someone having seizures; the AED regimen must be appropriate and not excessive; and surgery must always be considered a viable option.

  11. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

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

    1989-01-01

    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...... 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...... dimensions, healthy volunteers the lowest, while the psoriasis group repeatedly held an intermediate position in all sets of assessment (subjects, interviewers and relatives). A logistic regression analysis showed ixoide features being most important when the entire epilepsy group was compared with other...

  12. 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

  13. Unraveling complex relationships among dysphoric disorder, localization-related epilepsy, and mood disorders.

    Science.gov (United States)

    Suda, Tetsufumi; Tatsuzawa, Yasutaka; Mogi, Taichi; Yoshino, Aihide

    2017-10-01

    Dysphoric disorder (DD), characterized by intermittent pleomorphic symptoms, has been believed to be specific to epilepsy. However, our previous study revealed that DD in patients with localization-related epilepsy was associated with a lifetime diagnosis of mood disorders. The present study was conducted to estimate the prevalence of DD in patients with mood disorders, but not epilepsy, and to identify the clinical similarities and differences of DD in patients with either epilepsy or mood disorders. Subjects consisted of 104 patients with localization-related epilepsy (group E) and 101 patients with DSM-IV mood disorders, but not with epilepsy (group M). After a diagnostic investigation for DD and the euthymic state, defined as the absence of any mood episodes during the last 12months, we compared the clinical characteristics of DD in patients from groups E and M. Dysphoric disorder was apparently more common in group M (56.4%) than in group E (21.2%). However, 86.0% of patients in group M showed a temporal overlap between DD and the noneuthymic state, while 68.2% of patients in group E did not show this overlap. Moreover, the noneuthymic state was significantly associated with symptoms of DD, indicating that the diagnosis of DD was more likely to be overestimated when the subjects were in a noneuthymic state. The prevalence of DD, temporally independent of the noneuthymic state (pure DD), was estimated at 13.4% and 7.0% in groups E and M, respectively, and pure DD was 1.91 times more common in patients with epilepsy than in those with mood disorders. Diagnosis of pure DD was significantly associated with increased suicidality in group E, but not group M. The present results suggest that DD is more familiar to epilepsy than mood disorders, although DD is not specific to epilepsy. Moreover, suicidality is specifically associated with DD in patients with epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. What Every Teacher Should Know about Epilepsy.

    Science.gov (United States)

    Spiegel, Gregory L.; And Others

    1996-01-01

    An overview of epilepsy and its possible ramifications is provided. The etiology of epilepsy, its diagnosis, and the different types of seizures (tonic-clonic, tonic, and absence) are explained. Information is also provided on first aid and treatment such as medications and surgery. Educational issues, including social, academic, and parent/school…

  15. 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.

  16. A locus identified on chromosome18p11.31 is associated with hippocampal abnormalities in a family with mesial temporal lobe epilepsy

    Directory of Open Access Journals (Sweden)

    Claudia Vianna Maurer-Morelli

    2012-08-01

    Full Text Available We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb in a family with mesial temporal lobe epilepsy (MTLE. Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ~12cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Zmax of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.

  17. 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…

  18. 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 ...

  19. Epilepsy - overview

    Science.gov (United States)

    ... at any age. There may be a family history of seizures or epilepsy. ... if a seizure occurs. People with poorly controlled epilepsy should not drive. Check your state's law about which people with a history of seizures are allowed to drive. DO NOT ...

  20. 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...

  1. Work Absence

    DEFF Research Database (Denmark)

    Amilon, Anna; Wallette, Mårten

    2009-01-01

    This paper investigates whether low levels of absence increase the probability of permanent employment and reduce that of unemployment for Swedish temporary workers. We investigate two reasons for absence: worker sickness and sickness of a dependent child. Using a competing risk estimation model......, we find that sick leave reduces the probability of permanent employment for women and increases the probability of unemployment for men. Absence due to child sickness increases the risk of unemployment for women. Although the influence of sick leave varies substantially among different temporary jobs...

  2. 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

    NARCIS (Netherlands)

    W.M.A. Verhoeven (Wim); J.I.M. Egger (Jos); A.C. Knegt (Alida); J. Zuydam (José); T. Kleefstra (Tjitske)

    2016-01-01

    textabstractDeletions 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

  3. Epilepsy (generalised).

    Science.gov (United States)

    Maguire, Melissa; Marson, Anthony G; Ramaratnam, Sridharan

    2012-02-20

    About 3% of people will be diagnosed with epilepsy during their lifetime, but about 70% of people with epilepsy eventually go into remission. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of monotherapy in newly diagnosed generalised epilepsy (tonic clonic type)? What are the effects of additional treatments in people with drug-resistant generalised epilepsy? What are the effects of surgery in people with drug-resistant generalised epilepsy? We searched: Medline, Embase, The Cochrane Library, and other important databases up to August 2011 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 8 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: monotherapy using carbamazepine, gabapentin, lamotrigine, levetiracetam, phenobarbital, phenytoin, sodium valproate, or topiramate; addition of second-line drugs (lamotrigine or levetiracetam) for drug-resistant epilepsy; and hemispherectomy for drug-resistant epilepsy.

  4. [Juvenile myoclonic epilepsy].

    Science.gov (United States)

    Syvertsen, Marte Roa; Markhus, Rune; Selmer, Kaja Kristine; Nakken, Karl O

    2012-08-07

    Juvenile myoclonic epilepsy (JME) is a generalised epilepsy with seizure onset in youth. The aim of this review is to present updated knowledge about the etiology, diagnosis and treatment of JME. The review is based on a judicious selection of original English language articles, meta-analyses, and reviews found in PubMed, and the authors' own experience with the patient group. Seizure onset occurs in adolescence. All have myoclonias, about 90 % have generalized tonic-clonic seizures, and one third have absences. Myoclonic jerks are frequently the debut symptom, while tonic-clonic seizures appear later on. Patients are particularly susceptible to seizures shortly after waking. It is important to ask specifically about myoclonias as most patients do not report jerks spontaneously. The electroencephalograms of 44-81 % of the patients show discharges of 4-6 Hz polyspike waves. Focal EEG abnormalities may be seen in about 30 %. When patients are treated with valproate and seizure-precipitating factors are avoided, especially sleep deprivation, about 80 % become seizure-free. Lamotrigine and levetiracetam are alternative therapies for women of childbearing age. Attempts to taper off the medication after several years of seizure freedom entail a high risk of seizure relapse. As there may be features of focal epilepsy in the seizure semiology and/or the EEGs, it may be difficult to diagnose JME. Thus, many patients are misdiagnosed as having a focal epilepsy and are given antiepileptic drugs that may aggravate the tendency to seizures.

  5. Feline Epilepsy.

    Science.gov (United States)

    Barnes Heller, Heidi

    2018-01-01

    Seizures occur commonly in cats and can be classified as idiopathic epilepsy, structural epilepsy, or reactive seizures. Pursuit of a diagnosis may include a complete blood count, serum biochemistry, brain MRI, and cerebrospinal fluid analysis as indicated. Antiepileptic drugs should be considered if a cat is having frequent seizures, or any 1 seizure longer than 5 minutes. Phenobarbital is often the drug of choice; however, levetiracetam may be more useful for certain types of epilepsy in cats. Long-term prognosis depends on the underlying diagnosis and response to therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Employees with Epilepsy

    Science.gov (United States)

    ... Resources Home | Accommodation and Compliance Series: Employees with Epilepsy By Melanie Whetzel, M. A. Preface Introduction Information ... SOAR) at http://AskJAN.org/soar. Information about Epilepsy What is Epilepsy? Epilepsy is a chronic, neurological ...

  7. Targeting Epilepsy

    Science.gov (United States)

    ... and seizures in some developing countries and some immigrant populations in the United States. Environmental Approaches Improving ... increase understanding about this condition and to reduce stigma. Past 3 Percentage of Adults with Active Epilepsy ...

  8. Epilepsy Surgery

    Science.gov (United States)

    ... to the frontal lobe may affect behavior, including motivation, attention or concentration, as well as impulse control, ... July 17, 2015. Schacter SC. Overview of the management of epilepsy in adults. http://www.uptodate.com/ ...

  9. Epilepsy Surgery

    Science.gov (United States)

    ... if the seizure occurs during a bath or swimming Brain damage from prolonged seizures Sudden death, a ... a candidate for epilepsy surgery, your pre-surgical evaluation may include: Baseline electroencephalogram (EEG). In this test, ...

  10. Managing Epilepsy

    Science.gov (United States)

    ... go to school, drive, and take part in social activities. When seizures are not controlled, it increases the risk of Injury. Depression. Anxiety. In some cases, death. Sometimes even epilepsy treatment can cause problems such as feeling tired. Self- ...

  11. Neuroimaging of epilepsy

    Science.gov (United States)

    Cendes, Fernando; Theodore, William H.; Brinkmann, Benjamin H.; Sulc, Vlastimil; Cascino, Gregory D.

    2017-01-01

    Imaging is pivotal in the evaluation and management of patients with seizure disorders. Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, low-grade glial neoplasms and malformations of cortical development has been demonstrated. Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment. This chapter highlights neuroimaging developments and innovations, and provides a comprehensive overview of the imaging strategies used to improve the care and management of people with epilepsy. PMID:27430454

  12. Impaired Consciousness in Epilepsy

    Science.gov (United States)

    Blumenfeld, Hal

    2013-01-01

    Consciousness is essential to normal human life. In epileptic seizures consciousness is often transiently lost making it impossible for the individual to experience or respond. This has huge consequences for safety, productivity, emotional health and quality of life. To prevent impaired consciousness in epilepsy it is necessary to understand the mechanisms leading to brain dysfunction during seizures. Normally the “consciousness system”—a specialized set of cortical-subcortical structures—maintains alertness, attention and awareness. Recent advances in neuroimaging, electrophysiology and prospective behavioral testing have shed new light on how epileptic seizures disrupt the consciousness system. Diverse seizure types including absence, generalized tonic-clonic and complex partial seizures converge on the same set of anatomical structures through different mechanisms to disrupt consciousness. Understanding these mechanisms may lead to improved treatment strategies to prevent impaired consciousness and improve quality of life in people with epilepsy. PMID:22898735

  13. Curing the Epilepsies: The Promise of Research

    Science.gov (United States)

    ... Been Made About the Causes of the Epilepsies Genetic Mutation Identify Biomarkers of Seizure Onset and Epileptogenesis Develop New Animal Models for Studying Epileptogenesis and for Testing Treatments ...

  14. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

    Science.gov (United States)

    Trivisano, Marina; Striano, Pasquale; Sartorelli, Jacopo; Giordano, Lucio; Traverso, Monica; Accorsi, Patrizia; Cappelletti, Simona; Claps, Dianela Judith; Vigevano, Federico; Zara, Federico; Specchio, Nicola

    2015-10-01

    Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with myoclonic-atonic epilepsy (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and intellectual disability. The aim of this study was to assess the impact of CHD2 mutations in a series of patients with MAE. Twenty patients affected by MAE were included in the study. We analyzed antecedents, age at onset, seizure semiology and frequency, EEG, treatment, and neuropsychological outcome. We sequenced the CHD2 gene with Sanger technology. We identified a CHD2 frameshift mutation in one patient (c.4256del19). He was a 17-year-old boy with no familial history for epilepsy and normal development before epilepsy onset. Epilepsy onset was at 3years and 5months: he presented with myoclonic-atonic seizures, head drops, myoclonic jerks, and absences. Interictal EEGs revealed slow background activity associated with generalized epileptiform abnormalities and photoparoxysmal response. His seizures were highly responsive to valproic acid, and an attempt to withdraw it led to seizure recurrence. Neuropsychological evaluation revealed moderate intellectual disability. Chromodomain-helicase-DNA-binding protein 2 is not the major gene associated with MAE. Conversely, CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity, which might overlap with MAE, Lennox-Gastaut, Dravet, and Jeavons syndromes. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. 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.

  16. Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.

    Science.gov (United States)

    Tobochnik, Steven; Fahlstrom, Robyn; Shain, Catherine; Winawer, Melodie R

    2017-07-04

    To improve phenotype definition in genetic studies of epilepsy, we assessed the familial aggregation of focal seizure types and of specific seizure symptoms within the focal epilepsies in families from the Epilepsy Phenome/Genome Project. We studied 302 individuals with nonacquired focal epilepsy from 149 families. Familial aggregation was assessed by logistic regression analysis of relatives' traits (dependent variable) by probands' traits (independent variable), estimating the odds ratio for each symptom in a relative given presence vs absence of the symptom in the proband. In families containing multiple individuals with nonacquired focal epilepsy, we found significant evidence for familial aggregation of ictal motor, autonomic, psychic, and aphasic symptoms. Within these categories, ictal whole body posturing, diaphoresis, dyspnea, fear/anxiety, and déjà vu/jamais vu showed significant familial aggregation. Focal seizure type aggregated as well, including complex partial, simple partial, and secondarily generalized tonic-clonic seizures. Our results provide insight into genotype-phenotype correlation in the nonacquired focal epilepsies and a framework for identifying subgroups of patients likely to share susceptibility genes. © 2017 American Academy of Neurology.

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

    DEFF Research Database (Denmark)

    Leu, Costin; de Kovel, Carolien G F; Zara, Federico

    2012-01-01

    Purpose: 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) ...

  18. Chronotypes in Patients with Epilepsy: Does the Type of Epilepsy Make a Difference?

    Science.gov (United States)

    Kendis, Hallie; Baron, Kelly; Schuele, Stephan U; Patel, Bhavita; Attarian, Hrayr

    2015-01-01

    Circadian rhythms govern all biological functions. Circadian misalignment has a major impact on health. Late chronotype is a risk factor for circadian misalignment which in turn can affect the control of seizures in epilepsy patients. We compared a group of 87 confirmed epilepsy patients regardless of subtypes with age- and sex-matched healthy controls. We compared generalized epilepsy patients with localization related epilepsy patients and with healthy controls. We found that primary generalized epilepsy patients were 5 times more likely to have a late chronotype than healthy controls. We did not find any significant differences between localization related epilepsy patients and healthy controls or between the overall epilepsy cohort and healthy controls. Generalized epilepsy patients are more likely to be evening types as compared to those with focal epilepsy or subjects without epilepsy. Epilepsy patients do not experience the same age related increase in morningness as do age-matched healthy controls. This is important in regard to timing of AED, identifying and preventing sleep deprivation, and integrating chronotype evaluations and chronotherapy in comprehensive epilepsy care. Further studies, using objective phase markers or the impact of chronotherapy on seizure control, are necessary.

  19. 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.

  20. Acupuncture for refractory epilepsy: role of thalamus.

    Science.gov (United States)

    Chen, Shuping; Wang, Shubin; Rong, Peijing; Liu, Junling; Zhang, Hongqi; Zhang, Jianliang

    2014-01-01

    Neurostimulation procedures like vagus nerve stimulation (VNS) and deep brain stimulation have been used to treat refractory epilepsy and other neurological disorders. While holding promise, they are invasive interventions with serious complications and adverse effects. Moreover, their efficacies are modest with less seizure free. Acupuncture is a simple, safe, and effective traditional healing modality for a wide range of diseases including pain and epilepsy. Thalamus takes critical role in sensory transmission and is highly involved in epilepsy genesis particularly the absence epilepsy. Considering thalamus serves as a convergent structure for both acupuncture and VNS and the thalamic neuronal activities can be modulated by acupuncture, we propose that acupuncture could be a promising therapy or at least a screening tool to select suitable candidates for those invasive modalities in the management of refractory epilepsy.

  1. Acupuncture for Refractory Epilepsy: Role of Thalamus

    Directory of Open Access Journals (Sweden)

    Shuping Chen

    2014-01-01

    Full Text Available Neurostimulation procedures like vagus nerve stimulation (VNS and deep brain stimulation have been used to treat refractory epilepsy and other neurological disorders. While holding promise, they are invasive interventions with serious complications and adverse effects. Moreover, their efficacies are modest with less seizure free. Acupuncture is a simple, safe, and effective traditional healing modality for a wide range of diseases including pain and epilepsy. Thalamus takes critical role in sensory transmission and is highly involved in epilepsy genesis particularly the absence epilepsy. Considering thalamus serves as a convergent structure for both acupuncture and VNS and the thalamic neuronal activities can be modulated by acupuncture, we propose that acupuncture could be a promising therapy or at least a screening tool to select suitable candidates for those invasive modalities in the management of refractory epilepsy.

  2. 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 ...

  3. 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

  4. Narrative Absence

    DEFF Research Database (Denmark)

    Kaur, Ravinder

    2008-01-01

    examples of successful refugee resettlement and national self-assertion. Within the master narrative of Partition migration history, however, the experiences of forced movement and resettlement suffered by the ‘Untouchables' are obscured. Popular accounts of violence, forced movement and suffering...... are largely built around the narratives produced by upper caste and upper middle-class migrants and exclude the experiences of Untouchable migrants. This narrative absence becomes a gauge of both the discursive and physical exclusion of ‘Untouchable' refugees from the legitimate community of Partition...... migrants. Such a meta-version of Partition history constitutes the realm of the normal outside which ‘Untouchable' narratives exist as an aberration in the theme of modern citizen-making in post-colonial India. In this article, I examine these ‘aberrations' to provide an alternate reading that helps us...

  5. 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.

  6. Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood.

    NARCIS (Netherlands)

    W.F.M. Arts (Willem Frans); O.F. Brouwer (Oebele); A.C.B. Peters (Boudewijn); H. Stroink (Hans); E.A. Peeters (Els); P.I.M. Schmitz (Paul); C.A. van Donselaar (Cees); A.T. Geerts (Ada)

    2004-01-01

    textabstractKnowing the prognosis of epilepsy will undoubtedly influence the treatment strategy. This study aimed to define the prospects of newly diagnosed childhood epilepsy, assess the dynamics of its course, identify relevant variables and develop models to assess the

  7. Do recurrent seizure-related head injuries affect seizures in people with epilepsy?

    Science.gov (United States)

    Friedman, David E; Chiang, Sharon; Tobias, Ronnie S

    2012-02-01

    Seizure-related head injuries (SRHIs) are among the most commonly encountered injuries in people with epilepsy (PWE). Whether head injury has an effect on preexisting epilepsy is not known. The purpose of this study was to systematically assess for any possible effects of SRHIs on seizure frequency and seizure semiology over a 2-year period. We identified 204 patients who have been followed at the Baylor Comprehensive Epilepsy Center from 2008 to 2010. SRHI occurred in 18.1% of the cohort. Most injuries (91%) were classified as mild. Though seizure frequency varied following head injury, overall seizure frequency was not significantly impacted by presence or absence of SRHI over the 2-year study period. Changes in seizure semiology were not observed in those with SRHIs. Although mild SRHI is common among PWE, it does not appear to have an effect on seizure characteristics over a relatively short period. Copyright © 2011 Elsevier Inc. All rights reserved.

  8. Do recurrent seizure-related head injuries affect seizures in people with epilepsy?

    Science.gov (United States)

    Friedman, David E.; Chiang, Sharon; Tobias, Ronnie S.

    2015-01-01

    Seizure-related head injuries (SRHIs) are among the most commonly encountered injuries in people with epilepsy (PWE). Whether head injury has an effect on preexisting epilepsy is not known. The purpose of this study was to systematically assess for any possible effects of SRHIs on seizure frequency and seizure semiology over a 2-year period. We identified 204 patients who have been followed at the Baylor Comprehensive Epilepsy Center from 2008 to 2010. SRHI occurred in 18.1% of the cohort. Most injuries (91%) were classified as mild. Though seizure frequency varied following head injury, overall seizure frequency was not significantly impacted by presence or absence of SRHI over the 2-year study period. Changes in seizure semiology were not observed in those with SRHIs. Although mild SRHI is common among PWE, it does not appear to have an effect on seizure characteristics over a relatively short period. PMID:22227592

  9. American Epilepsy Society

    Science.gov (United States)

    ... and Coding Episodes of Care Practice Management Course Quality Measures PRACTICE TOOLS Cognitive Behavior Employment Resources Medications that provoke seizures Transition Tools: Adolescents Women with Epilepsy EPILEPSY MONITORING UNITS EMU FAQs EMU Safety Find an Epilepsy Center ...

  10. Genetics of Childhood Epilepsy

    OpenAIRE

    J Gordon Millichap

    2000-01-01

    Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.

  11. Epilepsy or seizures - discharge

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000128.htm Epilepsy or seizures - discharge To use the sharing features on this page, please enable JavaScript. You have epilepsy . People with epilepsy have seizures. A seizure is ...

  12. Epilepsy and chromosome 18 abnormalities: A review.

    Science.gov (United States)

    Verrotti, Alberto; Carelli, Alessia; di Genova, Lorenza; Striano, Pasquale

    2015-11-01

    To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main clinical, electroclinical and prognostic aspects in chromosome 18 anomalies. A careful overview of recent works concerning chromosome 18 aberrations and epilepsy has been carried out considering the major groups of chromosomal 18 aberrations, identified using MEDLINE and EMBASE database from 1980 to 2015. Epilepsy seems to be particularly frequent in patients with trisomy or duplication of chromosome 18 with a prevalence of up to 65%. Approximately, over half of the patients develop epilepsy during the first year of life. Epilepsy can be focal or generalized; infantile spasms have also been reported. Brain imagines showed anatomical abnormalities in 38% of patients. Some antiepileptic drugs as valproic acid and carbamazepine were useful for treating seizures although a large majority of patients need polytherapy. Children with chromosomal 18 abnormalities can present different types of epilepsy, more frequently focal seizures in individuals with 18q- deletion syndrome, while both complex partial seizures and generalized tonic-clonic seizures have been described in patients who suffer for trisomy 18. Outcome in term of seizures frequency and duration seems to be variable and epilepsy is drug resistant in half of the children, especially in children with trisomy 18 and generalized epilepsy. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  13. Temporal Lobe Epilepsy in the Elderly

    Directory of Open Access Journals (Sweden)

    L. E. Morillo

    2012-01-01

    Full Text Available The incidence of epilepsy has bimodal distribution peaking at the extremes of life. Incidence is greater in younger and older age groups (Hauser et al., 1993, Sidenvall et al., 1993, Forsgren et al., 1996, and Olafsson et al., 2005. As the world population ages more elders with epilepsy will be identified. In the high-income countries with longer life expectancy, the number of elders with epilepsy will be even higher. CPSs account for 40% of all seizure types in the elderly (Hauser et al., 1992; however, the proportion with temporal lobe epilepsy (TLE is uncertain.

  14. Erratum to “The WAG/Rij strain: A genetic animal model of absence epilepsy with comorbidity of depression” [Prog Neuro-Psychopharmacol Biol Psychiatry 35 (4) 854-876

    NARCIS (Netherlands)

    Sarkisova, K.Y.; Luijtelaar, E.L.J.M. van

    2012-01-01

    The Publisher regrets that an error occurred in the spelling of the word ‘depression’ in the title of this paper. It incorrectly appeared as 12 ‘depressiony’. There is also an error in Fig.3. The text reads as follows "The open field test measures in non-epileptic and absence-epileptic Wistar

  15. 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......,494 for their partners. CONCLUSION: Epilepsy has major socioeconomic consequences for individual patients, their partners and society....

  16. Is there such a thing as "generalized" epilepsy?

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Behr, C.; Avoli, M.

    2014-01-01

    The distinction between generalized and partial epilepsies is probably one, if not the most, pregnant assertions in modern epileptology. Both absence and generalized tonic-clonic seizures, the prototypic seizures found in generalized epilepsies, are classically seen as the result of a rapid,

  17. Imaging of intractable paediatric epilepsy

    Directory of Open Access Journals (Sweden)

    Sanjay Prabhu

    2015-10-01

    Full Text Available Approximately 20% of paediatric patients with epilepsy are refractory to medical therapies. In this subgroup of patients, neuroimaging plays an important role in identifying an epileptogenic focus. Successful identification of a structural lesion results in a better outcome following epilepsy surgery. Advances in imaging technologies, methods of epileptogenic region localisation and refinement of clinical evaluation of this group of patients in epilepsy centres have helped to widen the spectrum of children who could potentially benefit from surgical treatment. In this review, we discuss ways to optimise imaging techniques, list typical imaging features of common pathologies that can cause epilepsy, and potential pitfalls to be aware of whilst reviewing imaging studies in this challenging group of patients. The importance of multidisciplinary meetings to analyse and synthesise all the non-invasive data is emphasised. Our objectives are: to describe the four phases of evaluation of children with drug-resistant localisation-related epilepsy; to describe optimal imaging techniques that can help maximise detection of epileptogenic foci; to describe a systematic approach to reviewing magnetic resonance imaging of children with intractable epilepsy; to describe the features of common epileptogenic substrates; to list potential pitfalls whilst reviewing imaging studies in these patients; and to highlight the value of multimodality and interdisciplinary approaches to the management of this group of children.

  18. [Benign partial epilepsies of childhood].

    Science.gov (United States)

    Palencia, R

    To carry out, by means of a literature review, an update of the entities that can be included within the group of benign partial epilepsies of childhood. Among partial epilepsies with onset in the first stages of life, a group extended in the last years with a favourable course and a trend to reverse, even spontaneously, has been identified. Some of these entities have a genetic origin but we do not know the mechanisms by which these epilepsies show a self limited course, which have given rise to the denomination of epilepsy that comes and goes; nevertheless, an evolution to other more complex forms is also possible. Benign partial epilepsies of childhood constitute a wide group of conditions of varied semiology, usually with a good prognosis even without treatment. Occasionally, these epilepsies may show a more unfavourable course with a worsening, in spite of medication, and the appearance of neurologic and neuropsychologic disorders. All these aspects must be known and considered by the physician in charge of these patients management.

  19. Epigenetics and epilepsy.

    Science.gov (United States)

    Pulido Fontes, L; Quesada Jimenez, P; Mendioroz Iriarte, M

    2015-03-01

    Epigenetics is the study of heritable modifications in gene expression that do not change the DNA nucleotide sequence. Some of the most thoroughly studied epigenetic mechanisms at present are DNA methylation, post-transcriptional modifications of histones, and the effect of non-coding RNA molecules. Gene expression is regulated by means of these mechanisms and disruption of these molecular pathways may elicit development of diseases. We describe the main epigenetic regulatory mechanisms and review the most recent literature about epigenetic mechanisms and how those mechanisms are involved in different epileptic syndromes. Identifying the epigenetic mechanisms involved in epilepsy is a promising line of research that will deliver more in-depth knowledge of epilepsy pathophysiology and treatments. Copyright © 2014 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  20. Advances on genetic rat models of epilepsy

    Science.gov (United States)

    Serikawa, Tadao; Mashimo, Tomoji; Kuramoto, Takashi; Voigt, Birger; Ohno, Yukihiro; Sasa, Masashi

    2014-01-01

    Considering the suitability of laboratory rats in epilepsy research, we and other groups have been developing genetic models of epilepsy in this species. After epileptic rats or seizure-susceptible rats were sporadically found in outbred stocks, the epileptic traits were usually genetically-fixed by selective breeding. So far, the absence seizure models GAERS and WAG/Rij, audiogenic seizure models GEPR-3 and GEPR-9, generalized tonic-clonic seizure models IER, NER and WER, and Canavan-disease related epileptic models TRM and SER have been established. Dissection of the genetic bases including causative genes in these epileptic rat models would be a significant step toward understanding epileptogenesis. N-ethyl-N-nitrosourea (ENU) mutagenesis provides a systematic approach which allowed us to develop two novel epileptic rat models: heat-induced seizure susceptible (Hiss) rats with an Scn1a missense mutation and autosomal dominant lateral temporal epilepsy (ADLTE) model rats with an Lgi1 missense mutation. In addition, we have established episodic ataxia type 1 (EA1) model rats with a Kcna1 missense mutation derived from the ENU-induced rat mutant stock, and identified a Cacna1a missense mutation in a N-Methyl-N-nitrosourea (MNU)-induced mutant rat strain GRY, resulting in the discovery of episodic ataxia type 2 (EA2) model rats. Thus, epileptic rat models have been established on the two paths: ‘phenotype to gene’ and ‘gene to phenotype’. In the near future, development of novel epileptic rat models will be extensively promoted by the use of sophisticated genome editing technologies. PMID:25312505

  1. Advances on genetic rat models of epilepsy.

    Science.gov (United States)

    Serikawa, Tadao; Mashimo, Tomoji; Kuramoro, Takashi; Voigt, Birger; Ohno, Yukihiro; Sasa, Masashi

    2015-01-01

    Considering the suitability of laboratory rats in epilepsy research, we and other groups have been developing genetic models of epilepsy in this species. After epileptic rats or seizure-susceptible rats were sporadically found in outbred stocks, the epileptic traits were usually genetically-fixed by selective breeding. So far, the absence seizure models GAERS and WAG/Rij, audiogenic seizure models GEPR-3 and GEPR-9, generalized tonic-clonic seizure models IER, NER and WER, and Canavan-disease related epileptic models TRM and SER have been established. Dissection of the genetic bases including causative genes in these epileptic rat models would be a significant step toward understanding epileptogenesis. N-ethyl-N-nitrosourea (ENU) mutagenesis provides a systematic approach which allowed us to develop two novel epileptic rat models: heat-induced seizure susceptible (Hiss) rats with an Scn1a missense mutation and autosomal dominant lateral temporal epilepsy (ADLTE) model rats with an Lgi1 missense mutation. In addition, we have established episodic ataxia type 1 (EA1) model rats with a Kcna1 missense mutation derived from the ENU-induced rat mutant stock, and identified a Cacna1a missense mutation in a N-Methyl-N-nitrosourea (MNU)-induced mutant rat strain GRY, resulting in the discovery of episodic ataxia type 2 (EA2) model rats. Thus, epileptic rat models have been established on the two paths: 'phenotype to gene' and 'gene to phenotype'. In the near future, development of novel epileptic rat models will be extensively promoted by the use of sophisticated genome editing technologies.

  2. 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)

  3. Juvenile myoclonic epilepsy: A clinical and sleep EEG study

    National Research Council Canada - National Science Library

    Dhanuka, A.K; Jain, B.K; Daljit, Singh; Maheshwari, D

    2001-01-01

    ...) and is associated with absence seizures in more than one third of cases. Fifteen patients with juvenile myoclonic epilepsy were studied with regard to their clinical profile, EEG data and sleep EEG findings...

  4. 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...... epilepsy group with predominantly right-sided and left-sided EEG changes, respectively, showed similar adaptive levels of ego functioning....

  5. Genetic Programming and Frequent Itemset Mining to Identify Feature Selection Patterns of iEEG and fMRI Epilepsy Data.

    Science.gov (United States)

    Smart, Otis; Burrell, Lauren

    2015-03-01

    Pattern classification for intracranial electroencephalogram (iEEG) and functional magnetic resonance imaging (fMRI) signals has furthered epilepsy research toward understanding the origin of epileptic seizures and localizing dysfunctional brain tissue for treatment. Prior research has demonstrated that implicitly selecting features with a genetic programming (GP) algorithm more effectively determined the proper features to discern biomarker and non-biomarker interictal iEEG and fMRI activity than conventional feature selection approaches. However for each the iEEG and fMRI modalities, it is still uncertain whether the stochastic properties of indirect feature selection with a GP yield (a) consistent results within a patient data set and (b) features that are specific or universal across multiple patient data sets. We examined the reproducibility of implicitly selecting features to classify interictal activity using a GP algorithm by performing several selection trials and subsequent frequent itemset mining (FIM) for separate iEEG and fMRI epilepsy patient data. We observed within-subject consistency and across-subject variability with some small similarity for selected features, indicating a clear need for patient-specific features and possible need for patient-specific feature selection or/and classification. For the fMRI, using nearest-neighbor classification and 30 GP generations, we obtained over 60% median sensitivity and over 60% median selectivity. For the iEEG, using nearest-neighbor classification and 30 GP generations, we obtained over 65% median sensitivity and over 65% median selectivity except one patient.

  6. 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

  7. Childhood epilepsy and sleep

    OpenAIRE

    Mohammed A Al-Biltagi

    2014-01-01

    Sleep and epilepsy are two well recognized conditions that interact with each other in a complex bi-directional way. Some types of epilepsies have increased activity during sleep disturbing it; while sleep deprivation aggravates epilepsy due to decreased seizure threshold. Epilepsy can deteriorate the sleep-related disorders and at the same time; the parasomnias can worsen the epilepsy. The secretion of sleep-related hormones can also be affected by the occurrence of seizures and supplementat...

  8. Incidence and prevalence of epilepsy in Denmark

    DEFF Research Database (Denmark)

    Christensen, Jakob; Vestergaard, Mogens; Pedersen, Marianne G

    2007-01-01

    PURPOSE: To estimate the occurrence of epilepsy in Denmark between 1977 and 2002, taking gender, age, and secular trends into consideration. METHODS: We used the Danish Civil Registration System to identify all persons born in Denmark and the Danish National Hospital Register to identify persons...... registered with epilepsy between 1977 and 2002. RESULTS: Between 1977 and 2002 the average incidence of epilepsy was 68.8 new epilepsy patients per 100,000 person-years at risk. However, the incidence changed with calendar time and increased steeply from 1990 to 1995, probably due to changes in diagnostic...... declined from a high level in children to a low level between 20 and 40 years of age, and thereafter a gradual increase was seen. The incidence rate was slightly higher in men than in women except for the age range 10-20 years. About 2% of the population was diagnosed with epilepsy at some point during...

  9. 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.

  10. The challenges that parents of children with epilepsy face

    DEFF Research Database (Denmark)

    Kampra, Matina; Tzerakis, Nikolas; Thomsen, Louise Lund Holm

    2017-01-01

    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......E: 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...

  11. 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, pepilepsy 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 age. The restlessness was typically described as moderately severe. The RLS symptoms were more common and somewhat more severe in the right TLE group

  12. 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.

  13. Pediatric Headache and Epilepsy Comorbidity in the Pragmatic Clinical Setting.

    Science.gov (United States)

    Papavasiliou, Antigone S; Bregianni, Marianna; Nikaina, Irene; Kotsalis, Charalambos; Paraskevoulakos, Evangelos; Bazigou, Helen

    2016-04-01

    Demographic and clinical data were collected from three cross-sectional samples, from the headache and epilepsy clinics according to respective protocols. During structured interviews, we examined the co-occurrence of headaches and epilepsy in children and their families: (1) 172 children from the headache clinic, were questioned for the number and type of epileptic seizures and epilepsy diagnosis. (2) Around 70 children from the epilepsy clinic for the frequency and type of headaches and headache syndrome diagnosis. (3) A total of 149 parents of children with benign childhood epilepsy with centro-temporal spikes (BCECTS) and childhood absence epilepsy (CAE), for the relative frequency of headaches in first- and second-degree relatives. Out of 172, 84 (48.8%) children with headache had a migraine and 60 (34.9%) had tension headaches; 3 children (1.7%) had epilepsy or unprovoked seizures. Migraine and epilepsy, co-occurred in 2/84 (2.3%). Eight out of 70 patients with epilepsy had headaches (11.4%); none had migraine. Around 43% of patients with BCECTS or CAE had a family history of headache, more prevalent in first-degree relatives of children with BCECTS than CAE. Contrary to existing literature, migraine and epilepsy, co-occurred infrequently in these highly selected samples. Family history of headache was frequent in patients with BCECTS and CAE, without any significant difference between the two. Georg Thieme Verlag KG Stuttgart · New York.

  14. 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.

  15. ADGRV1 is implicated in myoclonic epilepsy.

    Science.gov (United States)

    Myers, Kenneth A; Nasioulas, Steven; Boys, Amber; McMahon, Jacinta M; Slater, Howard; Lockhart, Paul; Sart, Desirée du; Scheffer, Ingrid E

    2017-12-20

    To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at the 5q14.3 chromosomal locus in myoclonic epilepsy. We studied the epilepsy phenotypes of 4 individuals with 5q14.3 deletion and found that all had myoclonic seizures. We then screened 6 contiguous genes at 5q14.3, MEF2C, CETN3, MBLAC2, POLR3G, LYSMD3, and ADGRV1, in a 95-patient cohort with epilepsy and myoclonic seizures. Of these genes, point mutations in MEF2C cause a phenotype involving seizures and intellectual disability. A role for ADGRV1 in epilepsy has been proposed previously, based on a recessive mutation in the Frings mouse model of audiogenic seizures, as well as a shared homologous region with another epilepsy gene, LGI1. Six patients from the myoclonic epilepsy cohort had likely pathogenic ultra-rare ADGRV1 variants, and statistical analysis showed that ultra-rare variants were significantly overrepresented when compared to healthy population data from the Genome Aggregation Database. Of the remaining genes, no definite pathogenic variants were identified. Our data suggest that the ADGRV1 variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV1 haploinsufficiency likely contributes to seizure development. The latter is a shift from current thinking, as MEF2C haploinsufficiency has been considered the main cause of epilepsy in 5q14.3 deletion syndrome. In cases of 5q14.3 deletion and epilepsy, seizures likely occur due to haploinsufficiency of one or both of ADGRV1 and MEF2C. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  16. Patient assessment of physician performance of epilepsy quality-of-care measures

    OpenAIRE

    Wicks, Paul; Fountain, Nathan B.

    2012-01-01

    To identify gaps in physician practice of epilepsy care, an online survey was sent to members of a Web-based epilepsy community to ascertain whether their physician performed 8 quality measures for epilepsy care. A total of 221 of 348 recently active epilepsy patients (64%) completed the survey. More than 80% of patients agreed they knew their seizure type, epilepsy syndrome, current seizure frequency, and had an EEG and neuroimaging. Fewer (60%) recalled being asked about medication side eff...

  17. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

    Science.gov (United States)

    Lamoril, J; Puy, H; Whatley, S D; Martin, C; Woolf, J R; Da Silva, V; Deybach, J C; Elder, G H

    2001-05-01

    Hereditary coproporphyria (HCP) is the least common of the autosomal dominant acute hepatic porphyrias. It results from mutations in the CPO gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase. A few patients have also been reported who are homoallellic or heteroallelic for CPO mutations and are clinically distinct from those with HCP. In such patients the presence of a specific mutation (K404E) on one or both alleles produces a neonatal hemolytic anemia that is known as "harderoporphyria"; mutations on both alleles elsewhere in the gene give rise to the "homozygous" variant of HCP. The molecular relationship between these disorders and HCP has not been defined. We describe the molecular investigation and clinical features of 17 unrelated British patients with HCP. Ten novel and four previously reported CPO mutations, together with three previously unrecognized single-nucleotide polymorphisms, were identified in 15 of the 17 patients. HCP is more heterogeneous than other acute porphyrias, with all but one mutation being restricted to a single family, with a predominance of missense mutations (10 missense, 2 nonsense, 1 frameshift, and 1 splice site). Of the four known mutations, one (R331W) has previously been reported to cause disease only in homozygotes. Heterologous expression of another mutation (R401W) demonstrated functional properties similar to those of the K404E harderoporphyria mutation. In all patients, clinical presentation was uniform, in spite of the wide range (1%-64%) of residual coproporphyrinogen oxidase activity, as determined by heterologous expression. Our findings add substantially to knowledge of the molecular epidemiology of HCP, show that single copies of CPO mutations that are known or predicted to cause "homozygous" HCP or harderoporphyria can produce typical HCP in adults, and demonstrate that the severity of the phenotype does not correlate with the degree of inactivation by mutation of coproporphyrinogen oxidase.

  18. Neocortical gamma oscillations in idiopathic generalized epilepsy

    DEFF Research Database (Denmark)

    Benedek, Krisztina; Berenyi, Antal; Gombkoto, Peter

    2016-01-01

    Objective: Absence seizures in patients with idiopathic generalized epilepsy (IGE) may in part be explained by a decrease in phasic GABAA (type-A c-aminobutyric acid) receptor function, but the mechanisms are only partly understood. Here we studied the relation between ictal and interictal spike-...

  19. Alternative psychosis (forced normalisation) in epilepsy

    African Journals Online (AJOL)

    Patients with refractory temporal lobe epilepsy who undergo unilateral anterior temporal lobectomy have been observed to develop a de novo psychosis with diminished seizures. This is thought to be an alternative psychosis related to forced normalisation of the EEG.8,12-14. The absence of clear diagnostic criteria for ...

  20. 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

  1. Imaging of intractable paediatric epilepsy

    African Journals Online (AJOL)

    2015-12-09

    Dec 9, 2015 ... as refractory and intractable epilepsy. Neuroimaging plays an important role in identifying epileptogenic foci that can be surgically resected. Advances in neuroimaging, including advances in scanner hardware and software, have allowed improved signal-to-noise ratio and achieve faster scan times and ...

  2. Subpial transection surgery for epilepsy.

    Science.gov (United States)

    Krishnaiah, Balaji; Ramaratnam, Sridharan; Ranganathan, Lakshmi Narasimhan

    2015-12-03

    Nearly 30% of patients with epilepsy continue to have seizures in spite of using several antiepileptic drug (AED) regimens. Such patients are regarded as having refractory, or uncontrolled, epilepsy. No definition of uncontrolled, or medically refractory, epilepsy has been universally accepted, but for the purposes of this review, we will consider seizures as drug resistant if they have failed to respond to a minimum of two AEDs. It is believed that early surgical intervention may prevent seizures at a younger age, which, in turn, may improve the intellectual and social status of children. Many types of surgery are available for treatment of refractory epilepsy; one such procedure is known as subpial transection. To determine the benefits and adverse effects of subpial transection for partial-onset seizures and generalised tonic-clonic seizures in children and adults. We searched the Cochrane Epilepsy Group Specialised Register (29 June 2015), the Cochrane Central Register of Controlled Trials (CENTRAL; May 2015, Issue 5) and MEDLINE (1946 to 29 June 2015). We imposed no language restrictions. We considered all randomised and quasi-randomised parallel-group studies, whether blinded or non-blinded. Two review authors (BK and SR) independently screened trials identified by the search. The same two review authors planned to independently assess the methodological quality of studies. When studies were identified for inclusion, one review author would have extracted the data, and the other would have verified the data. We found no relevant studies. We found no evidence to support or refute use of subpial transection surgery for patients with medically refractory epilepsy. Well-designed randomised controlled trials are needed to guide clinical practice.

  3. Gender Differences in Epilepsy

    National Research Council Canada - National Science Library

    Christensen, Jakob; Kjeldsen, Marianne Juel; Andersen, Henning; Friis, Mogens Laue; Sidenius, Per

    2005-01-01

    Purpose: The aim of this study was to look at gender differences in unselected populations of patients with epilepsy classified according to the 1989 International League Against Epilepsy (ILAE) criteria. Methods...

  4. Management of epilepsy in MERRF syndrome.

    Science.gov (United States)

    Finsterer, Josef; Zarrouk-Mahjoub, Sinda

    2017-08-01

    Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported. There are no guidelines available for the management of epilepsy in MERRF syndrome but several expert opinions and general recommendations for the treatment of mitochondrial epilepsy have been published. According to these recommendations the antiepileptic drugs (AEDs) of choice are levetiracetam, topiramate, zonisamide, piracetam, and benzodiazepines. Perampanel has not been applied in MERRF patients but is promising in non-mitochondrial myoclonic epilepsy. Mitochondrion-toxic agents, including mitochondrion-toxic AEDs, such as valproate, carbamazepine, phenytoin, and barbiturates, should be avoided as well as AEDs potentially enhancing the frequency of myoclonus, such as phenytoin, carbamazepine, lamotrigine, vigabatrin, tiagabine, gabapentin, pregabalin, and oxcarbazepine. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  5. Generalized paroxysmal fast activity in EEG: An unrecognized finding in genetic generalized epilepsy.

    Science.gov (United States)

    Sagi, Vishwanath; Kim, Inyup; Bhatt, Amar B; Sonmezturk, Hasan; Abou-Khalil, Bassel W; Arain, Amir M

    2017-11-01

    To study generalized paroxysmal fast activity (GPFA) in patients with genetic generalized epilepsy (GGE). GPFA is an electroencephalographic (EEG) finding in patients with symptomatic generalized epilepsy consisting of 15-25Hz bifrontally predominant generalized fast activity seen predominantly in sleep. Historically GPFA is linked to epileptic encephalopathy with drug resistant epilepsy and intellectual disability. However, GPFA has been rarely described as an atypical finding in patients with GGE without negative prognostic implication. We report cognitive profile and seizure characteristics in seven patients with GGE and GPFA. The Vanderbilt EMU and EEG reports were searched for the keywords "idiopathic generalized epilepsy", "GPFA"and "generalized spike and wave discharges (GSWD)". We reviewed the EEG tracings and the electronic medical records of patients thus identified. The seizure type, frequency, neurological work-up, clinical profile and imaging data were recorded. Awake and sleep states were captured on EEGs of all patients. On EEG tracing review six patients were confirmed to have GSWD and GPFA; one patient had GPFA but no GSWD. All patients had normal cognitive function. Four had a normal brain MRI and one a normal head CT (two were never imaged). None of the patients had tonic seizures. The main seizure type was generalized tonic-clonic seizures (GTCS) in five patients, absence in two. Age at onset of epilepsy ranged from 4 to 24years. The mean GTC seizure frequency at the time of EEG was 3; two patients were seizure free on two antiepileptic drugs (AEDs). GPFA can be an unrecognized electrographic finding in patients with genetic generalized epilepsy. While GPFA remains an important diagnostic EEG feature for epileptic encephalopathy (Lennox-Gastaut syndrome) it is not specific for this diagnosis. Thus, GPFA may have a spectrum of variable phenotypic expression. The finding of GPFA is not necessarily indicative of unfavorable outcome. Copyright

  6. Treatment of pediatric epilepsy in Poland.

    Science.gov (United States)

    Dunin-Wąsowicz, Dorota; Mazurkiewicz-Bełdzińska, Maria; Steinborn, Barbara; Wheless, James; Jóźwiak, Sergiusz

    2015-05-01

    The many types of childhood epilepsies make the diagnosis and treatment difficult and the outcomes frequently poor. Furthermore, there are few clinical trials in pediatric epilepsy that provide useful results to guide daily practice. Therefore for pediatric neurologists expert opinion may be useful. To provide an overview of current practice in Poland and compare results with European and US clinical guidelines. Polish specialists in pediatric neurology were asked to participate in a survey about pediatric epilepsy. The focus of the questions was on the overall strategy and treatment options for different syndromic diagnoses. The survey was developed and performed according to a previous European survey (Wheless et al., 2007). Fifty-one Polish specialists, working in academic or clinical settings, completed the questionnaire. They limited combination therapy to two or three antiepileptic drugs. Valproate was the treatment of choice for myoclonic, generalized tonic-clonic seizures and Lennox-Gastaut syndrome. For infantile spasms caused by tuberous sclerosis and of symptomatic etiology, vigabatrin was treatment of choice; valproate and ACTH were other first line options. Valproate and ethosuximide were chosen for childhood absence epilepsy and valproate for juvenile absence epilepsy. Carbamazepine was the first-line treatment option for benign partial epilepsy of childhood with centrotemporal spikes and complex partial seizures. In the treatment of juvenile myoclonic epilepsy for males valproate, for females lamotrigine were chosen. Polish pediatric neurologists agreed on the majority of questions. Their views reflect the clinical utility and availability of treatment options in Poland. Results may provide direction for clinicians. Copyright © 2015. Published by Elsevier Ltd.

  7. EPILEPSY AND GENETICS

    OpenAIRE

    Kvernmo, Nadja Anette Myrvik

    2006-01-01

    The genetic component of epilepsy has been known for over two millennia. The most commonly reported types of genetic epilepsy show simple Mendelian inheritance. Autosomal dominant inheritance has been found within many families with epilepsy, often with decreased penetrance. Many specific mutations have been discovered involving different channels and receptors, and some may affect other mechanisms. Still, the specific mutations for most types of epilepsies are not known. The present pape...

  8. 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.

  9. [Efficacy of topiramate in childhood epilepsies].

    Science.gov (United States)

    Adachi, Masao; Oyazato, Yoshinobu; Nishiyama, Atsushi; Murase, Masanori; Ishida, Akihito

    2010-09-01

    To evaluate the efficacy of topiramate (TPM) for the treatment of children with epilepsies, we introduced TPM to 45 patients whose epilepsy began in childhood and whose ages ranged from 4 months to 30 years old (mean age: 11 years 7 months). Thirteen of these patients had been diagnosed with generalized epilepsy (GE) (1 cryptogenic, 12 symptomatic), 30 with localization-related epilepsy (LRE) (7 idiopathic, 23 symptomatic), and 2 with unclassified epilepsy [1 case of severe myoclonic epilepsy in infancy (SMEI), 1 case of epilepsy with continuous spikes and waves during slow sleep (CSWS)]. The initial dose of TPM was 1.97 +/- 0.45 mg/kg/day, followed by a slow titration to the maximum dose of 7.32 +/- 1.32 mg/kg/day. After a mean treatment period of 13.5 months (range 4-20 months), the rate of reduction in seizure frequency by more than 50% [50% responder rate (50% RR)] and the rate of complete remission (seizure-free) were 53.8% and 23.1%, respectively, in patients with GE, and 73.3% and 23.3%, respectively, in patients with LRE. TPM was significantly effective against many seizure types including tonic, clonic, complex partial, myoclonic, and atypical absence seizures. Adverse effects included sleepiness in 13 cases (28.9%), weight loss in 6 cases (13.3%), and metabolic acidosis in 2 cases (4.4%); all of these effects were both mild and transient. In conclusion, TPM is effective and safe for the treatment of pediatric epilepsies.

  10. Animal models of epilepsy: use and limitations

    Directory of Open Access Journals (Sweden)

    Kandratavicius L

    2014-09-01

    Full Text Available Ludmyla Kandratavicius,1 Priscila Alves Balista,1 Cleiton Lopes-Aguiar,1 Rafael Naime Ruggiero,1 Eduardo Henrique Umeoka,2 Norberto Garcia-Cairasco,2 Lezio Soares Bueno-Junior,1 Joao Pereira Leite11Department of Neurosciences and Behavior, 2Department of Physiology, Ribeirao Preto School of Medicine, University of Sao Paulo, Ribeirao Preto, BrazilAbstract: Epilepsy is a chronic neurological condition characterized by recurrent seizures that affects millions of people worldwide. Comprehension of the complex mechanisms underlying epileptogenesis and seizure generation in temporal lobe epilepsy and other forms of epilepsy cannot be fully acquired in clinical studies with humans. As a result, the use of appropriate animal models is essential. Some of these models replicate the natural history of symptomatic focal epilepsy with an initial epileptogenic insult, which is followed by an apparent latent period and by a subsequent period of chronic spontaneous seizures. Seizures are a combination of electrical and behavioral events that are able to induce chemical, molecular, and anatomic alterations. In this review, we summarize the most frequently used models of chronic epilepsy and models of acute seizures induced by chemoconvulsants, traumatic brain injury, and electrical or sound stimuli. Genetic models of absence seizures and models of seizures and status epilepticus in the immature brain were also examined. Major uses and limitations were highlighted, and neuropathological, behavioral, and neurophysiological similarities and differences between the model and the human equivalent were considered. The quest for seizure mechanisms can provide insights into overall brain functions and consciousness, and animal models of epilepsy will continue to promote the progress of both epilepsy and neurophysiology research.Keywords: epilepsy, animal model, pilocarpine, kindling, neurodevelopment

  11. 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

  12. [An overview of epilepsy: its history, classification, pathophysiology and management].

    Science.gov (United States)

    Hirose, Genjiro

    2013-05-01

    Epilepsy, a common chronic set of neurological disorders characterized by seizures, affects more than 50 million people worldwide. In fact, it is estimated that the annual incidence of new onset epilepsy in the general population is more than 80 per 100,000, occurring mostly in children and the elderly. Epilepsy is not a single specific disease, or even a single syndrome, but rather a broad category of symptom complexes arising from any number of disordered brain functions. The history of epilepsy dates back to a time when it was associated with religious experiences and even demonic possession; textbooks from the Babylonian Era (718-612 BC) emphasize the supernatural nature of epilepsy, while in ancient Greece, Hippocrates described it as the "Sacred Disease". Our modern understanding of epilepsy as a neurological disorder associated with seizures only originated in the mid-19th century through the research of John Hughlings-Jackson. Classification of epilepsies, epileptic syndromes, and related seizure disorders first appeared 1981 and later in 1989, as described by the International League Against Epilepsy (ILAE). Newer classifications have since been proposed by the same organization; however, these are still rather controversial and have not yet been accepted worldwide. The pathophysiology of epilepsy, including the pharmacological and neurophysiological aspects, has been studied extensively. Epileptogenicity is induced by abnormal cellular excitability that arises from depolarization and hyperpolarization events, as well as from aberrant neuronal networks that develop abnormal synchronization. These events can be studied using mutant epileptogenic animals, such as the GAERS rat model of absence epilepsy. The past 15 years has seen the development of many new drugs for the treatment of epilepsy, thus providing a diverse choice for epileptologists and their patients. However, a better understanding of these drugs is required to improve the therapeutic

  13. Prevalence of epilepsy in rural Kansas.

    Science.gov (United States)

    Ablah, Elizabeth; Hesdorffer, Dale C; Liu, Yi; Paschal, Angelia M; Hawley, Suzanne; Thurman, David; Hauser, W Allen

    2014-05-01

    To determine the prevalence of active epilepsy in two southeastern rural Kansas counties. Medical records were abstracted from the emergency rooms, out- and inpatient services and clinics of 9 hospitals, from 10 doctors' offices, and 1 nursing home in and surrounding the two counties. Letters were mailed from hospitals and doctors' offices to invite their potentially eligible patients to participate in an interview. Medical record information and the interview, when available, were used for the final determination of active epilepsy, seizure type, etiology, syndrome, age, and gender in consensus conferences. Prevalence of epilepsy was calculated, and capture-recapture methodology, which estimates prevalence based on what is known about the population, was employed to assess active epilepsy in the two counties. This study identified 404 individuals with active prevalent epilepsy who visited at least one of the 20 facilities during the observation period. The overall prevalence of active epilepsy was 7.2 per 1000. The seizure type for 71.3% of prevalent cases was unknown; among the 76 cases with known and classifiable seizure type, 55.3% had focal with secondary generalized seizures. Among the 222 cases with classifiable etiology, 53.1% were idiopathic/cryptogenic. About 75% (n=301) were captured at only one center, 72% (n=75) of the remaining 103 patients were captured at two centers, and 28 patients were identified at three or more centers. The capture-recapture assessment yielded an estimation of 982 prevalent patients. The overall estimated prevalence of epilepsy in the two Kansas counties using capture-recapture was 17 per 1000. The crude prevalence of epilepsy, using medical record survey methods, was similar to, but on the high end, of other total population prevalence studies in the United States. The capture-recapture assessment suggested that epilepsy prevalence might be considerably higher than the crude prevalence. Copyright © 2014 Elsevier B.V. All

  14. Sydney epilepsy incidence study to measure illness consequences: the SESIMIC observational epilepsy study protocol

    Directory of Open Access Journals (Sweden)

    Jan Stephen

    2011-01-01

    Full Text Available Abstract Background Epilepsy affects an estimated 50 million people and accounts for approximately 1% of days lost to ill health globally, making it one of the most common, serious neurological disorders. While there are abundant global data on epilepsy incidence, prevalence and treatment, there is a paucity of Australian incidence data. There is also a general lack of information on the psychosocial impact and socioeconomic consequences of a new diagnosis of epilepsy on an individual, their family, household, and community which are often specific to the health and social system of each country. Methods/Design The Sydney Epilepsy Incidence Study to Measure Illness Consequences (SEISMIC is an Australian population-based epilepsy incidence and outcome study that will recruit every newly diagnosed case of epilepsy in the Sydney South West Area Health Service to an epilepsy register. Multiple and overlapping sources of notification will be used to identify all new cases of epilepsy over a 24 month period in the Eastern Zone of the Sydney South West Area Health Service (SSWAHS and follow up will occur over 12 months. SEISMIC will use the International League Against Epilepsy (ILAE definitions and classifications for epidemiologic studies of epilepsy. The study will examine outcomes including mood, quality of life, employment, education performance, driving status, marital and social problems, medication use, health care usage, costs and stigma. Discussion This study is designed to examine how clinical, psychological factors, socioeconomic circumstances, and healthcare delivery influence the experience of epilepsy for individuals and families allowing better targeting of specific services and informing policy makers and practitioners. In addition, the study will provide the basis for a longitudinal population-based cohort study and potentially inform qualitative sub-studies and randomised controlled trials of intervention strategies. The study has

  15. Epilepsy in inherited metabolic disorders.

    Science.gov (United States)

    Pascual, Juan M; Campistol, Jaume; Gil-Nagel, Antonio

    2008-11-01

    The study of neurometabolic diseases is still in a prolonged preliminary stage. The catalogue of these diseases continues to grow; some known clinical syndromes have been subdivided into a number of variants once the genes that cause them have been identified, and at the same time new metabolic disorders have been discovered that aggravate or contribute to forms of epilepsy not previously classified as cerebral metabolic disorders. This review presents the basic principles underlying the recognition and treatment of epilepsy caused by neurometabolic diseases. These disorders are divided (purely for the sake of convenience) into epilepsy presenting in newborn infants, children, and adolescents and adults, recognizing that there is a significant degree of overlap between these chronological stages. Current analytical methods and therapeutic approaches are summarized both from a general point of view and within the context of each clinical syndrome, acknowledging that each patient presents specific peculiarities and that, in general, antiepileptic drugs provide few benefits compared with more specific types of therapy (eg, special diets or vitamins) when indicated. We also include therapeutic recommendations and a general approach to fulminant epilepsies of neurometabolic origin, emphasizing the importance of identifying all of the proband's relatives who may be potential carriers of a genetic disorder during the diagnostic and genetic counselling process. Particular emphasis is placed on disorders for which there is curative treatment and on the importance of follow-up by expert professionals. It is expected that in a few years' time it will be possible to know the metabolomic profile of these diseases (possibly by non-invasive methods), thus facilitating accurate diagnosis and making it possible to establish the response to treatment and to identify all individuals who are carriers or remain minimally symptomatic in terms of their risk of manifesting or transmitting

  16. Yoga for epilepsy.

    Science.gov (United States)

    Ramaratnam, S; Sridharan, K

    2000-01-01

    Stress is considered an important precipitating factor for seizures. Yoga is believed to induce relaxation and stress reduction. The effect of yoga on the EEG and the autonomic nervous system have been reported. Yoga would be an attractive therapeutic option for epilepsy (if proved effective), in view of its nonpharmacological nature, minimal side effects and international acceptance. To assess the efficacy of yoga in the treatment of patients with epilepsy. We searched the Cochrane Epilepsy Group trial register, the Cochrane Controlled Trials Register (The Cochrane Library Issue 4, 1998), MEDLINE for articles published up to the middle of 1998, and also registries of the research council for complimentary medicine were searched. In addition, we searched the references of all the identified studies. Finally, we contacted the members of the Neurological Society of India, several neurophysiology institutions and yoga institutes to seek any ongoing studies or studies published in nonindexed journals or unpublished studies. Randomized control trials and controlled clinical trials of treatment of epilepsy with yoga. The data were extracted independently by both reviewers and any discrepancies were resolved by discussion. The main outcomes assessed were percentage of patients rendered seizure free, number of patients with more than 50% reduction in seizure frequency or seizure duration and the overall reduction in seizure frequency. Analyses were on an intention to treat basis. Only one study met the selection criteria, and recruited a total of 32 patients, 10 to sahaja yoga and 22 to control treatments. Antiepileptic drugs were continued in all. Randomization was by roll of a dice. The results of this study are as follows: (i) Four patients treated with yoga were seizure free for six months compared to none in the control groups. The Odds Ratio (OR) (95% Confidence Interval (CI)) for yoga versus sham yoga group was 14.5 (0.7, 316.7) and for yoga versus no treatment

  17. 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.

  18. Healthcare utilization and costs in adults with stable and uncontrolled epilepsy.

    Science.gov (United States)

    Cramer, Joyce A; Wang, Zhixiao J; Chang, Eunice; Powers, Annette; Copher, Ronda; Cherepanov, Dasha; Broder, Michael S

    2014-02-01

    Despite the availability of numerous antiepileptic drugs (AEDs), some epilepsies remain resistant to treatment. We compared utilization and costs in patients with uncontrolled epilepsy to those with stable epilepsy. Claims data (2007-2009) were used to identify adults with epilepsy requiring additional AED therapy (having uncontrolled epilepsy) and those not requiring additional AED therapy (having stable epilepsy). The date in 2008 on which an additional AED was started was the index date for patients with uncontrolled epilepsy, and a randomly selected date was used for patients with stable epilepsy, whose AED use was unchanged in the preceding year. In the postindex year, all pharmacy and medical claims were used to estimate overall utilization and costs; claims with epilepsy in any diagnosis field were used to estimate epilepsy-related outcomes. Outcomes were adjusted using multivariate analyses. We identified 1536 patients with uncontrolled epilepsy and 8571 patients with stable epilepsy (mean age: 42.8years; female: 48%). Patients with uncontrolled epilepsy had higher comorbidity rates (pepilepsy had ≥1 hospitalization or emergency department visit (pepilepsy had a greater mean length of hospital stay and more physician office visits (pepilepsy-related) and emergency department visit (OR: 1.6, any diagnosis; 1.9, epilepsy-related) were greater for patients with uncontrolled epilepsy. Annual overall ($23,238 vs. $13,839) and epilepsy-related ($12,399 vs. $5511) costs were higher in patients with uncontrolled epilepsy and remained higher after adjustment (pepilepsy use more services and incur higher costs compared with those with stable epilepsy. Epilepsy-related costs accounted for <50% of the total costs, suggesting that comorbid conditions and/or underidentification of utilization may substantially contribute to costs. © 2013.

  19. 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...... 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...... 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...

  20. [Mood disorders and epilepsy surgery: A review].

    Science.gov (United States)

    Yrondi, A; Arbus, C; Valton, L; Schmitt, L

    2017-04-01

    Historically, there is a strong link between depression and epilepsy. Patients with epilepsy are four to five times more likely to develop a depressive syndrome. It seems that the link between epilepsy and depression is bidirectional. There is little data on mood disorders secondary to epilepsy surgery. The goal of epilepsy surgery is to reduce the number and frequency of attacks, which in turn would allow improvements in mood disorders and cognitive impairment. A systematic search of the international literature was performed using the bibliographic search engines PubMed and Embase. The following MESH terms were used: epilepsy surgery AND (depression OR depressive disorder OR mood disorder). We also used the "related articles" of PubMed, bibliography surveys, conference abstracts and Google Scholar to identify additional relevant papers. Of the 130 studies found by the systematic search, 112 are excluded because they did not take into account the mood disorders secondary to epilepsy surgery. Fifteen studies are included in this review of the literature with a case study. Depression is the psychopathological condition that is the most frequently studied. According to several studies, the prevalence of depression is approximately 30% with nearly 70% of cases diagnosed during the first three months following epilepsy surgery. The majority of patients presented depressive symptoms during the first 3 to 12months after epilepsy surgery. In these studies, the risk of developing depression is correlated with the existence of previous depressive elements relative to the epilepsy surgery. A small number of studies reported cases of de novo depression. Studies have shown a correlation between very good to excellent control of epileptic seizures and a persistent improvement of mood disorders. It would seem that depressive symptoms post-surgery are more common when the surgical intervention concerns the temporal lobe and in particular mesial resections. There are only very

  1. [The ecstatic epilepsy of Teresa of Jesus].

    Science.gov (United States)

    Garcia Albea, E

    Our aim is to define the ecstasies (raptures) of Teresa de Ahumada (Teresa of Jesus) and to link them with ecstasies recently identified as convulsive seizures (Dostoevsky s epilepsy, Saint Paul s disease, ecstatic epilepsy). We review the Carmelite nun's pathography, with special attention given to the excellent detailed descriptions of her ecstasies. The stereotypic movements and comparison with similar cases leads us to consider them as being epileptic, possibly secondary to neurocysticercosis.

  2. 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.

  3. The specific features and pattern of febrile infection-related epilepsy syndrome (FIRES in children

    Directory of Open Access Journals (Sweden)

    L. V. Shalkevich

    2014-01-01

    Full Text Available The paper considers the etiology, pathogenesis, clinical presentations, diagnosis and treatment in children with febrile infection-related epilepsy syndrome (FIRES and the aspects of identifying this disease as an individual nosological entity. It details a study of the possible etiological factors of FIRES, such as metabolic, genetic, and immunological disorders, aseptic inflammatory processes, as well as a search for a certain infectious agent by inoculations of different biological environments of the body and by polymerase chain reaction; the diagnostic characteristics of FIRES at the present stage, including the use of electroencephalography, positron emission tomography, and magnetic resonance imaging; different approaches to drug therapy for FIRES at the onset stages of its clinical manifestations, protracted status epilepticus, and drugresistant epilepsy. The issues of the predictable outcome of this disease, including survival and the probability of further development of epilepsy and maintenance of cognitive functions, are also viewed. Diagnostic criteria for the syndrome, such as age at its onset 3 to 15 years in previously healthy children; acute onset as fever to develop high-frequency focal seizures several days later; the absence of the identified disease pathogen detected by the examinations of cerebrospinal fluid, serum, and other environments of the body; the development of drug-resistant epilepsy and severe permanent cognitive and motor deficits after the completion of an acute period in most cases are presented. The paper is clinically exemplified by the authors’ observation of an 11-year-old boy who meets the above criteria for the syndrome, but has a relatively favorable course, without developing severe drug-resistant epilepsy.

  4. Epilepsy coexisting with depression.

    Science.gov (United States)

    Błaszczyk, Barbara; Czuczwar, Stanisław J

    2016-10-01

    Depression episodes in epilepsy is the most common commorbidity, affecting between 11% and 62% of patients with epilepsy. Although researchers have documented a strong association between epilepsy and psychiatric comorbidities, the nature of this relationship is poorly understood. The manifestation of depression in epilepsy is a complex issue having many interacting neurobiological and psychosocial determinants, including clinical features of epilepsy (seizure frequency, type, foci, or lateralization of foci) and neurochemical or iatrogenic mechanisms. Other risk factors are a family history of psychiatric illness, particularly depression, a lack of control over the seizures and iatrogenic causes (pharmacologic and surgical). In addition, treatment with antiepileptic drugs (AEDs) as well as social coping and adaptation skills have also been recognised as risk factors of depression associated with epilepsy. Epilepsy may foster the development of depression through being exposed to chronic stress. The uncertainty and unpredictability of seizures may instigate sadness, loneliness, despair, low self-esteem, and self-reproach in patients with epilepsy and lead to social isolation, stigmatization, or disability. Often, depression is viewed as a reaction to epilepsy's stigma and the associated poor quality of life. Moreover, patients with epilepsy display a 4-5 higher rate of depression and suicide compared with healthy population. Copyright © 2016. Published by Elsevier Urban & Partner Sp. z o.o.

  5. Epilepsy in children with subacute sclerosing panencephalitis.

    Science.gov (United States)

    Jović, Nebojša J

    2013-01-01

    Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, fatal neurodegenerative disease of childhood and early adolescence caused by defective measles virus. The initial symptoms of SSPE usually involve regression in cognitive functioning and behavior or recurrent myoclonic jerks. Seizures revealing SSPE and epilepsy during the clinical course can occur. The aim of the study was to analyze clinical and EEG characteristics of both initially occurred seizures and epilepsy which developed in the course of the disease. Retrospective study was carried out on 19 children (14 boys, 5 girls) with SSPE diagnosed and treated at our Clinic from 1995 to 2010. Seizures revealed SSPE in our patients aged from 6.5 to 11.5 years (mean 8.6 years). SSPE onset ranged from 4.5 to 16.5 years (mean 10.05). Complete vaccination was performed in nine patients. Cognitive and behavioral decline was preceeded by 6-18 months in two children with intractable focal motor seizures with secondary generalization, one child with complex partial seizures and one with atypical absences. During the clinical course of the disease epilepsy developed in 10 (52.6%) cases, including four patients with seizures as the initial SSPE sign. It occurred mainly in the first year, while in three cases seizures appeared between 1 and 5 years of the disease evolution. Myoclonus was present independently from seizures. No significant inter-group differences were found relating to the type of SSPE progression and history of epilepsy. The only child with fulminant SSPE presented with initial seizures. Favorable seizure control was achieved in 60.0% patients. Intractable epilepsy developed in four patients. Atypical SSPE presentation can include mainly focal intractable seizures. Epilepsy developed during clinical course in 52.6% cases. No significant influence was found of the history of epilepsy on the type of SSPE progression.

  6. Epilepsy in children with subacute sclerosing panencephalitis

    Directory of Open Access Journals (Sweden)

    Jović Nebojša J.

    2013-01-01

    Full Text Available Introduction. Subacute sclerosing panencephalitis (SSPE is a rare, progressive, fatal neurodegenerative disease of childhood and early adolescence caused by defective measles virus. The initial symptoms of SSPE usually involve regression in cognitive functioning and behavior or recurrent myoclonic jerks. Seizures revealing SSPE and epilepsy during the clinical course can occur. Objective. The aim of the study was to analyze clinical and EEG characteristics of both initially occurred seizures and epilepsy which developed in the course of the disease. Methods. Retrospective study was carried out on 19 children (14 boys, 5 girls with SSPE diagnosed and treated at our Clinic from 1995 to 2010. Seizures revealed SSPE in our patients aged from 6.5 to 11.5 years (mean 8.6 years. Results. SSPE onset ranged from 4.5 to 16.5 years (mean 10.05. Complete vaccination was performed in nine patients. Cognitive and behavioral decline was preceeded by 6-18 months in two children with intractable focal motor seizures with secondary generalization, one child with complex partial seizures and one with atypical absences. During the clinical course of the disease epilepsy developed in 10 (52.6% cases, including four patients with seizures as the initial SSPE sign. It occurred mainly in the first year, while in three cases seizures appeared between 1 and 5 years of the disease evolution. Myoclonus was present independently from seizures. No significant inter-group differences were found relating to the type of SSPE progression and history of epilepsy. The only child with fulminant SSPE presented with initial seizures. Favorable seizure control was achieved in 60.0% patients. Intractable epilepsy developed in four patients. Conclusion. Atypical SSPE presentation can include mainly focal intractable seizures. Epilepsy developed during clinical course in 52.6% cases. No significant influence was found of the history of epilepsy on the type of SSPE progression.

  7. Differentiation of Attention-Related Problems in Childhood Absence Epilepsy

    Science.gov (United States)

    Vega, Clemente; Vestal, Matthew; DeSalvo, Matthew; Berman, Rachel; Chung, MiHae; Blumenfeld, Hal; Spann, Marisa N.

    2010-01-01

    The current study examined the specific types of attention-related problems CAE children experience and the role of disease factors on the development of attention-related problems. Thirty-eight subjects with CAE and 46 healthy controls, ages 6 to 16 participated in the study. The Behavior Assessment System for Children (BASC) was completed by parents, and the Attention Problems and Hyperactivity subscales were used to characterize CAE children’s problems. Item analysis within the subscales revealed that CAE children demonstrated higher rates of hyperactive (overactivity and fidgetiness) and inattentive (forgetfulness and distractibility) problems, and required more supervision. Within CAE analyses revealed that those who were actively having seizures were more impatient and those with a longer duration of illness were less proficient in completing homework. Children with CAE are at risk for certain inattentive and hyperactive problems, which can differ depending on duration of illness and active seizure status. PMID:20674507

  8. "Surgery For Intractable Epilepsy, Loghman Hakim hospital, 1997-2003 "

    Directory of Open Access Journals (Sweden)

    Haddadian K

    2004-08-01

    Full Text Available Background: Regarding the complications of chronic intractable epilepsy, the presence of respectable lesions in many these patients that can be diagnosed with noninvasive sensitive techniques such as MRI and SPECT and the unrecognized significance of epilepsy surgery in our country, we have decided to review the management of medically intractable epilepsy in patients, who underwent epilepsy surgery in neurosurgery department of Loghman Hakim hospital between 1997-2003. Materials and Methods: In this study we retrospectively review 30 cases of medically intractable epilepsy that had underwent epilepsy surgery. All patients before surgery were investigated with brain MRI, brain SPECT, EEG and IQ test. Type of surgery was determined by MRI, SPECT and EEG findings. Pre - and postoperative seizure frequency and surgery complications studied. Seizure control was measured with Engel criteria. Results: Patients mean age was 22.4 years. Three cases (10% were females that all underwent temporal mesial lobectomy. In 18 cases (60% there were concordant brain lesion with seizure origin that 9 cases (30% underwent mesial temporal lobectomy and remainder 9 cases (30% underwent lesionectomy.other12 cases (40% that have uncertain brain lesion but suffer from drop attack due to one or combination of atonic, tonic, tonic clonic, clonic, myoclonic, absence or clonic underwent anterior callosotomy. patients that underwent mesial temporal lobectomy, anterior callosotomy and lesionectomy were seizure-free in 77.7%, 58.3% and 55.5% of cases respectively. Conclusions: Provided to correct patient selection for epilepsy surgery we can manage intractable epilepsy properly. Regarding to the complication of intractable epilepsy, acceptable epilepsy surgery results and available sensitive noninvasive diagnostic techniques such as MRI in our country, epilepsy surgery should be considered seriously in our country and promoted.

  9. 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.

  10. Underestimation of sudden deaths among patients with seizures and epilepsy.

    Science.gov (United States)

    Devinsky, Orrin; Friedman, Daniel; Cheng, Jocelyn Y; Moffatt, Ellen; Kim, Anthony; Tseng, Zian H

    2017-08-29

    To determine the definite and potential frequency of seizures and epilepsy as a cause of death (COD) and how often this goes unrecognized. Prospective determination of seizures or epilepsy and final COD for individuals aged 18-90 years with out-of-hospital sudden cardiac deaths (SCDs) from the population-based San Francisco POST SCD Study. We compared prospective seizure or epilepsy diagnosis and final COD as adjudicated by a multidisciplinary committee (pathologists, electrophysiologists, and a vascular neurologist) vs retrospective adjudication by 2 epileptologists with expertise in seizure-related mortality. Of 541 SCDs identified during the 37-month study period (mean age 62.8 years, 69% men), 525 (97%) were autopsied; 39/525 (7.4%) had seizures or epilepsy (mean age: 58 years, range: 27-92; 67% men), comprising 17% of 231 nonarrhythmic sudden deaths. The multidisciplinary team identified 15 cases of epilepsy, 6 sudden unexpected deaths in epilepsy (SUDEPs), and no deaths related to acute symptomatic seizures. The epileptologists identified 25 cases of epilepsy and 8 definite SUDEPs, 10 possible SUDEPs, and 5 potential cases of acute symptomatic seizures as a COD. Among the 25 patients identified with epilepsy by the epileptologists, they found definite or possible SUDEP in 72% (18/25) vs 24% (6/25) by the multidisciplinary group (6/15 cases they identified with epilepsy). The epileptologists identified acute symptomatic seizures as a potential COD in 5/14 patients with alcohol-related seizures. Epilepsy is underdiagnosed among decedents. Among patients with seizures and epilepsy who die suddenly, seizures and SUDEP often go unrecognized as a potential or definite COD. © 2017 American Academy of Neurology.

  11. 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

  12. The natural history of epilepsy in tuberous sclerosis complex.

    Science.gov (United States)

    Chu-Shore, Catherine J; Major, Philippe; Camposano, Susana; Muzykewicz, David; Thiele, Elizabeth A

    2010-07-01

    Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease. A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox-Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation. Two hundred ninety-one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (pHistory of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (pEpilepsy remission correlated with better cognitive outcome (pepilepsy; patients without an identified mutation were more likely to achieve remission. Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome.

  13. Mobile EEG in epilepsy.

    Science.gov (United States)

    Askamp, Jessica; van Putten, Michel J A M

    2014-01-01

    The sensitivity of routine EEG recordings for interictal epileptiform discharges in epilepsy is limited. In some patients, inpatient video-EEG may be performed to increase the likelihood of finding abnormalities. Although many agree that home EEG recordings may provide a cost-effective alternative to these recordings, their use is still not introduced everywhere. We surveyed Dutch neurologists and patients and evaluated a novel mobile EEG device (Mobita, TMSi). Key specifications were compared with three other current mobile EEG devices. We shortly discuss algorithms to assist in the review process. Thirty percent (33 out of 109) of Dutch neurologists reported that home EEG recordings are used in their hospital. The majority of neurologists think that mobile EEG can have additional value in investigation of unclear paroxysms, but not in the initial diagnosis after a first seizure. Poor electrode contacts and signal quality, limited recording time and absence of software for reliable and effective assistance in the interpretation of EEGs have been important constraints for usage, but in recent devices discussed here, many of these problems have been solved. The majority of our patients were satisfied with the home EEG procedure and did not think that our EEG device was uncomfortable to wear, but they did feel uneasy wearing it in public. © 2013.

  14. [Lamotrigine in refractory epilepsy].

    Science.gov (United States)

    García-Escrivà, A; López-Hernández, N; Alvarez-Saúco, M; Pampliega-Pérez, A; Oliver-Navarrete, C; Asensio-Asensio, M; Moltó-Jordá, J M; Palao-Sánchez, A

    Lamotrigine (LTG) is a new antiepileptic drug indicated in all kinds of partial and generalised clonic-tonic seizures, both in monotherapy and polytherapy. Between 20 and 30% of epileptic patients have poor control over their seizures despite adequate treatment. We report on our experience regarding the long-term efficacy and tolerability of LTG in refractory seizures. We conducted a consecutive 10-year study of patients who began LTG therapy following poor control of their seizures, in spite of being treated with two or more antiepileptic drugs in monotherapy or in combination. Both their epidemiological and clinical data were collected for study. We studied the efficacy of the treatment, differentiating between remission (absence of seizures), improvement (reduction>50% of the seizures), inefficacy (reductionepilepsy, in 28.5% it was symptomatic and in the remaining 28.5% it was idiopathic. EEG readings and neuroimaging scans were pathological in 53.8% and 43.6%, respectively. After beginning therapy with LTG, 33% remained free of seizures, 43.6% improved, in 18.3% it was seen to be ineffective and 5.1% got worse. Dropout rate was 56.4%:23.1% due to insufficient control over the seizures, 17.9% owing to side effects and 15.4% because of non-compliance. Treatment with LTG offers a high degree of efficacy in the control of seizures in patients with refractory epilepsy, although it is limited by a high dropout rate.

  15. Pediatric epilepsy and comorbid reading disorders, math disorders, or autism spectrum disorders: Impact of epilepsy on cognitive patterns.

    Science.gov (United States)

    van Iterson, Loretta; de Jong, Peter F; Zijlstra, Bonne J H

    2015-03-01

    In pediatric epilepsy, comorbidities are reported to be frequent. The present study focusedon the cognitive patterns of children with isolated epilepsy, children with isolated neurodevelopmental disorders (reading disorders, math disorders, autism spectrum disorders), and children with epilepsy and these neurodevelopmental disorders as comorbidities. Based on two samples of referred children, one with epilepsy, reading disorders, math disorders, or ASDs occurring in "isolation" (n=117) and one with reading disorders, math disorders, and ASDs occurring comorbid with epilepsy (n=171), cognitive patterns were compared. The patterns displayed by verbal and nonverbal abilities from the WISC series were studied with repeated measures ANOVA. Thereafter, an exploratory 2∗3∗2 factorial analysis was done to study the independent contribution of the type of comorbidity and of the presence or absence of epilepsy to the VIQ-PIQ pattern. In isolated epilepsy, a VIQ>PIQ pattern was found, which was not seen in the other disorders. When epilepsy and another disorder co-occurred, patterns were altered. They resembled partly the pattern seen in isolated epilepsy and partly the pattern seen in the isolated neurodevelopmental disorder. In comorbid reading disorders, the VIQ>PIQ pattern was mitigated; in comorbid math disorders, it was exacerbated. In comorbid ASDs, no clear pattern emerged. In the presence of epilepsy, patterns characteristic of isolated disorders appeared systematically shifted toward relatively lowered performance abilities or relatively spared verbal abilities. The similar "impact" exerted by epilepsy on the patterns of the various conditions suggested shared mechanisms. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. [New treatments in epilepsy].

    Science.gov (United States)

    Arroyo, S

    1999-12-01

    In recent years the treatment of epilepsies has significantly evolved. The launching of six new antiepileptic drugs--vigabatrin, lamotrigine, felbamate, gabapentin, topiramate and tiagabin--has considerably increased the available therapeutic options. On the other hand, the use of no pharmacologic treatments such as surgery of epilepsy, the implantation of the vagal stimulator or cetogenic diets has increased. In the next decade new antiepileptic drugs will probably be available with different mechanisms of actions which will improve the treatment of epilepsy.

  17. Identification of Pharmacoresistant Epilepsy

    OpenAIRE

    Berg, Anne T.

    2009-01-01

    There is no single definition of pharmacoresistant (intractable, refractory) epilepsy. Prospective identification of pharmacoresistance is complicated by the variability of its appearance across different types of epilepsy as well as the variability of seizure control within a given patient over time. Failure of informative trials of two appropriate antiepileptic drugs has been recommended as a threshold that should trigger referral for evaluation at a comprehensive epilepsy center. Maximizin...

  18. 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.

  19. 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.

  20. Welfare cost of childhood- and adolescent-onset epilepsy

    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 0–5 years and 6–20 years 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......-care cost of epilepsy to be estimated. The use and costs of drugs were based on data from the Danish Medicines Agency. The frequencies of visits to outpatient clinics and hospitalizations and costs from primary sectors were based on data obtained from the National Patient Registry. Results Children...

  1. Metabotropic glutamate receptors as a strategic target for the treatment of epilepsy.

    Science.gov (United States)

    Alexander, Georgia M; Godwin, Dwayne W

    2006-09-01

    Epilepsy is a chronic neurological disorder that has many known types, including generalized epilepsies that involve cortical and subcortical structures. A proportion of patients have seizures that are resistant to traditional anti-epilepsy drugs, which mainly target ion channels or postsynaptic receptors. This resistance to conventional therapies makes it important to identify novel targets for the treatment of epilepsy. Given the involvement of the neurotransmitter glutamate in the etiology of epilepsy, targets that control glutamatergic neurotransmission are of special interest. The metabotropic glutamate receptors (mGluRs) are of a family of eight G-protein-coupled receptors that serve unique regulatory functions at synapses that use the neurotransmitter glutamate. Their distribution within the central nervous system provides a platform for both presynaptic control of glutamate release, as well as postsynaptic control of neuronal responses to glutamate. In recent years, substantial efforts have been made towards developing selective agonists and antagonists which may be useful for targeting specific receptor subtypes in an attempt to harness the therapeutic potential of these receptors. We examine the possibility of intervening at these receptors by considering the specific example of absence seizures, a form of generalized, non-convulsive seizure that involves the thalamus. Views of the etiology of absence seizures have evolved over time from the "centrencephalic" concept of a diffuse subcortical pacemaker toward the "cortical focus" theory in which cortical hyperexcitability leads the thalamus into the 3-4 Hz rhythms that are characteristic of absence seizures. Since the cortex communicates with the thalamus via a massive glutamatergic projection, ionotropic glutamate receptor (iGluR) blockade has held promise, but the global nature of iGluR intervention has precluded the clinical effectiveness of drugs that block iGluRs. In contrast, mGluRs, because they

  2. 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.

  3. Benign Epilepsy in Children

    Directory of Open Access Journals (Sweden)

    Sook-Cheng Chan

    2011-03-01

    Full Text Available The diagnosis of benign epilepsy syndrome should meet the following criteria: age-related and self-limited; good response to medication; and no obvious neurological sequelae after seizure. However, the current concept of benign epilepsy syndrome has been challenged because of the advancements in genetic studies, neuroimaging, and molecular techniques. Many studies have revealed that the prevalence of behavioral problems and learning difficulties as well as subtle cognitive deficits is higher among patients with benign epilepsy, compared with the normal population. Here, we review updated results of these studies to show the latest and broad comprehensive knowledge of benign epilepsy in children.

  4. 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

  5. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

    Science.gov (United States)

    Andrade, Danielle M

    2009-07-01

    Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes' important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.

  6. Copy number variants in a hospital-based cohort of children with epilepsy

    NARCIS (Netherlands)

    Vlaskamp, D.R.M.; Callenbach, P.M.C.; Rump, P.; Van Ravenswaaij-Arts, C.M.A.; Brouwer, O.F.

    2015-01-01

    Purpose: Copy number variants (CVNs), detected with chromosomal microarray, have been shown to cause or predispose to epilepsy. We aimed to evaluate the diagnostic yield of microarray in a large cohort of children with epilepsy and to identify novel genes and regions for epilepsy. Method: From a

  7. Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy?

    Science.gov (United States)

    Seneviratne, Udaya; Hepworth, Graham; Cook, Mark; DʼSouza, Wendyl

    2017-05-01

    To evaluate EEG differences among syndromes in genetic generalized epilepsy based on quantified data. Twenty-four-hour ambulatory EEGs were recorded in consecutive patients diagnosed with genetic generalized epilepsy. All epileptiform EEG abnormalities were quantified into density scores (total duration of epileptiform discharges per hour). One-way analysis of variance was conducted to find out differences in EEG density scores among the syndromes. Generalized linear mixed models were also fitted to explore the association between the proportion of "pure" generalized spike-wave paroxysms and fragments (without intervening polyspikes/polyspike-waves) and the syndromes. In total, 6,923 epileptiform discharges were analyzed from 105 abnormal EEGs. In the analysis of variance, six EEG variables were significantly different among syndromes: total spike density (P = 0.001), total polyspike and polyspike-wave density (P = 0.049), generalized spike-wave-only density (P paroxysm density (P paroxysm duration mean (P = 0.018), and generalized paroxysm duration maximum (P = 0.009). The density of epileptiform discharges and the paroxysm durations were the highest in juvenile absence epilepsy followed by juvenile myoclonic epilepsy, childhood absence epilepsy, and generalized epilepsy with tonic-clonic seizures only. Generalized linear mixed models revealed that "pure" generalized spike-wave discharges (without intervening polyspikes/polyspike waves) tended to be more frequent in absence epilepsies, although the difference was not statistically significant (P = 0.21). The findings of this study suggest that the density and duration of epileptiform discharges can help differentiate among genetic generalized epilepsy syndromes.

  8. Unilateral continuous subclinical paroxysmal activity: an unusual finding in a patient with recurrent absence status.

    Science.gov (United States)

    Velizarova, Reana; Genton, Pierre

    2010-12-01

    We report a patient with a history of rare generalised tonic-clonic seizures and recurrent absence status who was diagnosed with a rare variant of idiopathic generalised epilepsy and absence status epilepsy. No other pathology was identified and MRI was normal. During a follow-up of 17 years, we recorded a single unilateral continuous, strictly subclinical, paroxysmal activity which lasted for at least several hours. No control was observed under treatment with phenobarbital, lamotrigine and topiramate. Absence status was aggravated with carbamazepine and generalised tonic-clonic seizures were not controlled with ethosuximide. Total seizure control was only possible with sodium valproate, which caused weight gain, and the patient has remained seizure-free for the past 10 years under 1,000 mg/d valproate and 200 mg/d topiramate. The recorded unilateral, long-lasting, subclinical spike-and-wave discharge is quite unusual for idiopathic generalised epilepsy and, in our opinion, occupies a transitional position between generalised and focal activity.

  9. Epilepsy and microRNA.

    Science.gov (United States)

    Jimenez-Mateos, E M; Henshall, D C

    2013-05-15

    MicroRNA (miRNA) is a class of small non-coding RNA which regulates post-transcriptional gene expression by repressing and thereby fine-tuning protein production, mainly via sequence-specific binding within the 3'untranslated region of mRNA transcripts. Although in humans there are only ∼1600 miRNAs, bioinformatics, systems studies and advanced quantitative proteomics reveal miRNA regulation of over half of all protein-coding genes and that each miRNA can regulate multiple proteins. Epilepsy is a common, serious neurologic disorder characterized by recurring unprovoked seizures that result from abnormal firing of populations of neurons in the brain. The brain expresses several unique miRNAs which control dendritic morphology as well as ion channel levels, neuronal migration and glial function. There is an emerging view that the patho-mechanisms underlying the process of epileptogenesis, as well as maintenance and progression of the epileptic state, involve miRNAs that control multiple genes and proteins on a systems level. Expression profiling studies reveal select changes to brain miRNA levels following prolonged seizures (status epilepticus) in animal models. Inflammation, stress signaling and neuronal excitation are among the pathways most impacted. Analysis of miRNA expression in human epilepsy has also been performed, where again neuroinflammatory processes were prominent. These studies suggest that miRNAs may regulate certain key processes but are not necessarily broadly altering all patho-mechanisms in epilepsy. Functional studies employing antagomirs have identified contributions from miR-34a and miR-132 to seizure-induced neuronal death whereas silencing miR-134 potently reduced status epilepticus, seizure-damage and the later occurrence of spontaneous seizures. Efforts to identify the in vivo target(s) of epilepsy-regulated miRNAs, is now a priority. Last, miRNAs are stable, information-carrying (paracrine) signals. Profiling miRNA in biofluids may

  10. 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.

  11. The natural history and prognosis of epilepsy.

    Science.gov (United States)

    Beghi, Ettore; Giussani, Giorgia; Sander, Josemir W

    2015-09-01

    Epilepsy is a brain condition characterized by the recurrence of unprovoked seizures. Generally, prognosis refers to the probability of attaining seizure freedom on treatment and little is known about the natural history of the untreated condition. Here, we summarize aspects of the prognosis and prognostic predictors of treated and untreated epilepsy and of its different syndromes. Usually, epilepsy is a fairly benign condition. Most epilepsies have a good prognosis for full seizure control and eventual discontinuation of AEDs, but epilepsy syndromes have differing outcomes and responses to treatment. Prognostic factors include aetiology, EEG abnormalities, type of seizures and the number of seizures experienced before treatment onset, and poor early effects of drugs. Early response to treatment is an important positive predictor of long-term prognosis, while the history of a high number of seizures at the time of diagnosis, intellectual disability, and symptomatic aetiology are negative predictors. Different prognostic patterns can be identified, suggesting that the epileptogenic process is not static. Epilepsy carries a greater than expected risk of premature death. Aetiology is the single most important risk factor for premature death.

  12. 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.

  13. Treatment of typical absence seizures and related epileptic syndromes.

    Science.gov (United States)

    Panayiotopoulos, C P

    2001-01-01

    Typical absences are brief (seconds) generalised seizures of sudden onset and termination. They have 2 essential components: clinically, the impairment of consciousness (absence) and, generalised 3 to 4Hz spike/polyspike and slow wave discharges on electroencephalogram (EEG). They differ fundamentally from other seizures and are pharmacologically unique. Their clinical and EEG manifestations are syndrome-related. Impairment of consciousness may be severe, moderate, mild or inconspicuous. This is often associated with motor manifestations, automatisms and autonomic disturbances. Clonic, tonic and atonic components alone or in combination are motor symptoms; myoclonia, mainly of facial muscles, is the most common. The ictal EEG discharge may be consistently brief (2 to 5 seconds) or long (15 to 30 seconds), continuous or fragmented, with single or multiple spikes associated with the slow wave. The intradischarge frequency may be constant or may vary (2.5 to 5Hz). Typical absences are easily precipitated by hyperventilation in about 90% of untreated patients. They are usually spontaneous, but can be triggered by photic, pattern, video games stimuli, and mental or emotional factors. Typical absences usually start in childhood or adolescence. They occur in around 10 to 15% of adults with epilepsies, often combined with other generalised seizures. They may remit with age or be lifelong. Syndromic diagnosis is important for treatment strategies and prognosis. Absences may be severe and the only seizure type, as in childhood absence epilepsy. They may predominate in other syndromes or be mild and nonpredominant in syndromes such as juvenile myoclonic epilepsy where myoclonic jerks and generalised tonic clonic seizures are the main concern. Typical absence status epilepticus occurs in about 30% of patients and is more common in certain syndromes, e.g. idiopathic generalised epilepsy with perioral myoclonia or phantom absences. Typical absence seizures are often easy to

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

    Science.gov (United States)

    Kjaer, Troels W.; Sorensen, Helge B. D.; Groenborg, Sabine; Pedersen, Charlotte R.

    2017-01-01

    Absence seizures are associated with generalized 2.5–5 Hz spike-wave discharges in the electroencephalogram (EEG). Rarely are patients, parents, or physicians aware of the duration or incidence of seizures. Six patients were monitored with a portable EEG-device over four times 24 h to evaluate how easily outpatients are monitored and how well an automatic seizure detection algorithm can identify the absences. Based on patient-specific modeling, we achieved a sensitivity of 98.4% with only 0.23 false detections per hour. This yields a clinically satisfying performance with a positive predictive value of 87.1%. Portable EEG-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 efficient devices, e.g., hidden in the ear canal or below the skin. PMID:29018634

  15. 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 ...

  16. 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)…

  17. Imaging of intractable paediatric epilepsy | Prabhu | SA Journal of ...

    African Journals Online (AJOL)

    Approximately 20% of paediatric patients with epilepsy are refractory to medical therapies. In this subgroup of patients, neuroimaging plays an important role in identifying an epileptogenic focus. Successful identification of a structural lesion results in a better outcome following epilepsy surgery. Advances in imaging ...

  18. Role of Electroencephalography in Presurgical Evaluation of Temporal Lobe Epilepsy

    Directory of Open Access Journals (Sweden)

    Seetharam Raghavendra

    2012-01-01

    Full Text Available Surgery remains a therapeutic option for patients with medically refractory epilepsy. Comprehensive presurgical evaluation includes electroencephalography (EEG and video EEG in identifying patients who are likely to benefit from surgery. Here, we discuss in detail the utility of EEG in presurgical evaluation of patients with temporal lobe epilepsy along with illustrative cases.

  19. 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

  20. 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

  1. Genes, Seizures & Epilepsy

    Science.gov (United States)

    Goldman, Alica M.

    2006-01-01

    The chance that someone will develop any disease is influenced by heredity and environment. Epilepsy is not an exception. Everybody inherits a unique degree of susceptibility to seizures. About 3 percent of the United States population is prone to seizures and will get epilepsy at some point of their lives (1). Two thirds of the people with…

  2. Surgical management of epilepsy

    African Journals Online (AJOL)

    brain, or to disconnect it and thereby prevent spread to other parts of the brain. In cases ... Certain types of epilepsy are better controlled with specific tech- niques, e.g. ... epilepsy.[8] In this procedure a DBS electrode is placed into the anterior.

  3. Epilepsy and pregnancy

    DEFF Research Database (Denmark)

    Hvas, C L; Henriksen, T B; Ostergaard, J R

    2000-01-01

    . SETTING: Department of Obstetrics and Gynaecology at Aarhus University Hospital, Denmark. PARTICIPANTS: One hundred and ninety-three singleton pregnancies in women with epilepsy were compared with 24,094 singleton pregnancies in women without epilepsy. MAIN OUTCOME MEASURES: Preterm delivery, small...

  4. Stress and childhood epilepsy

    NARCIS (Netherlands)

    Campen, J.S. van

    2015-01-01

    Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological

  5. 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.

  6. Cognitive Findings in Benign Childhood Epilepsy with Occipital Paroxysms

    Directory of Open Access Journals (Sweden)

    Ebru Kolsal

    2014-12-01

    Full Text Available Aim: The aim of this study was to evaluate the cognitive and visual perceptive functions in children with childhood epilepsy with occipital paroxysms (CEOP. Material and Method: Hospital charts of children ages 1 to 18 years who admitted to pediatric neurology out-patient clinic between 2009 and 2010 were reviewed. Twenty one children with a diagnosis of CEOP were identified. Sixteen of these children who accepted to include the study were evaluated with neuropsychological tests. Results: Two of five patients who were evaluated with Denver developmental screening test were found to have lower scores than their reference standards. Remaining 11 patients were evaluated with Wechsler Scales of Intelligence tests, 4 were mildly mental retarded and 1 had null intelligence. Eleven patients were also evaluated with Bender Gestalt Visual Motor Test and 7of them had disturbances in visual perception. Reading speed and writing norm tests were applied to 9 literate patients and 7 of them showed slower reading ability and writing ability was found worse in 6 patients. Discussion: The absence of neurological and neuropsylogical deficits has long been considered as a prerequisite for diagnosis of benign childhood partial epilepsies. However, only a few studies describing the cognitive profile of patients with CEOP have been published. The present study has demonstrated that the patients with CEOP had varying degree of cognitive dysfunction and disturbance in visual perception. In order to provide appropriate intervention, cognitive functions should be assessed in children with CEOP.

  7. Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.

    Science.gov (United States)

    Aaberg, Kari Modalsli; Gunnes, Nina; Bakken, Inger Johanne; Lund Søraas, Camilla; Berntsen, Aleksander; Magnus, Per; Lossius, Morten I; Stoltenberg, Camilla; Chin, Richard; Surén, Pål

    2017-05-01

    Epilepsy affects 0.5% to 1% of children and is the most frequent chronic neurologic condition in childhood. Incidence rates appear to be declining in high-income countries. The validity of epilepsy diagnoses from different data sources varies, and contemporary population-based incidence studies are needed. The study was based on the Norwegian Mother and Child Cohort Study. Potential epilepsy cases were identified through registry linkages and parental questionnaires. Cases were validated through medical record reviews and telephone interviews of parents. The study population included 112 744 children aged 3 to 13 years (mean 7.4 years) at end of registry follow-up (December 31, 2012). Of these, 896 had registry recordings and/or questionnaire reports of epilepsy. After validation, 587 (66%) met the criteria for an epilepsy diagnosis. The incidence rate of epilepsy was 144 per 100 000 person-years in the first year of life and 58 per 100 000 for ages 1 to 10 years. The cumulative incidence of epilepsy was 0.66% at age 10 years, with 0.62% having active epilepsy. The 309 children (34%) with erroneous reports of epilepsy from the registry and/or the questionnaires had mostly been evaluated for nonepileptic paroxysmal events, or they had undergone electroencephalography examinations because of other developmental or neurocognitive difficulties. Approximately 1 out of 150 children is diagnosed with epilepsy during the first 10 years of life, with the highest incidence rate observed during infancy. Validation of epilepsy diagnoses in administrative data and cohort studies is crucial because reported diagnoses may not meet diagnostic criteria for epilepsy. Copyright © 2017 by the American Academy of Pediatrics.

  8. 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.

  9. Sex, epilepsy, and epigenetics

    Science.gov (United States)

    Qureshi, Irfan A.; Mehler, Mark F.

    2014-01-01

    Epilepsy refers to a heterogeneous group of disorders that are associated with a wide range of pathogenic mechanisms, seizure manifestations, comorbidity profiles, and therapeutic responses. These characteristics are all influenced quite significantly by sex. As with other conditions exhibiting such patterns, sex differences in epilepsy are thought to arise—at the most fundamental level—from the “organizational” and “activational” effects of sex hormones as well as from the direct actions of the sex chromosomes. However, our understanding of the specific molecular, cellular, and network level processes responsible for mediating sex differences in epilepsy remains limited. Because increasing evidence suggests that epigenetic mechanisms are involved both in epilepsy and in brain sexual dimorphism, we make the case here that analyzing epigenetic regulation will provide novel insights into the basis for sex differences in epilepsy. PMID:24998474

  10. 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....

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. Advances in the development of biomarkers for epilepsy.

    Science.gov (United States)

    Pitkänen, Asla; Löscher, Wolfgang; Vezzani, Annamaria; Becker, Albert J; Simonato, Michele; Lukasiuk, Katarzyna; Gröhn, Olli; Bankstahl, Jens P; Friedman, Alon; Aronica, Eleonora; Gorter, Jan A; Ravizza, Teresa; Sisodiya, Sanjay M; Kokaia, Merab; Beck, Heinz

    2016-07-01

    Over 50 million people worldwide have epilepsy. In nearly 30% of these cases, epilepsy remains unsatisfactorily controlled despite the availability of over 20 antiepileptic drugs. Moreover, no treatments exist to prevent the development of epilepsy in those at risk, despite an increasing understanding of the underlying molecular and cellular pathways. One of the major factors that have impeded rapid progress in these areas is the complex and multifactorial nature of epilepsy, and its heterogeneity. Therefore, the vision of developing targeted treatments for epilepsy relies upon the development of biomarkers that allow individually tailored treatment. Biomarkers for epilepsy typically fall into two broad categories: diagnostic biomarkers, which provide information on the clinical status of, and potentially the sensitivity to, specific treatments, and prognostic biomarkers, which allow prediction of future clinical features, such as the speed of progression, severity of epilepsy, development of comorbidities, or prediction of remission or cure. Prognostic biomarkers are of particular importance because they could be used to identify which patients will develop epilepsy and which might benefit from preventive treatments. Biomarker research faces several challenges; however, biomarkers could substantially improve the management of people with epilepsy and could lead to prevention in the right person at the right time, rather than just symptomatic treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. People with epilepsy lack knowledge about their disease.

    Science.gov (United States)

    Mameniskiene, R; Sakalauskaite-Juodeikiene, E; Budrys, V

    2015-05-01

    For people with epilepsy, knowledge of their disease is an important factor in optimizing the control of their seizures. Better-informed patients can more easily participate in the treatment process, reducing disease-related anxiety and coping better with stigma. This study was developed in a Lithuanian tertiary epilepsy center to assess knowledge of disease among people with epilepsy, to estimate differences in disease knowledge between patient groups, and to evaluate how epilepsy influences patients' daily lives. We asked patients to complete a questionnaire and collected information from outpatient cards on epilepsy etiology, type of seizures, findings of diagnostic tests, and information about patients' antiepileptic drugs. Our results showed that people with epilepsy have poor knowledge about their disease: almost half of the patients did not identify the cause of their illness or their type of seizures; most did not know the results of their EEG and neuroimaging studies. Patients also lacked general knowledge about their disease and implications for lifestyle. However, cognitive deficits were not assessed in this study, and this may have affected the answers where patients were required to recall and name their drugs or the dosage of medication. Almost half of them believed that epilepsy had changed their lives significantly and reported anxiety and constant fear of seizures. Patients were also afraid to have because of the possibility they would also have epilepsy. There is clearly a great need for improved educational intervention for people with epilepsy. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf?

    Science.gov (United States)

    Nickels, Katherine

    2015-01-01

    Studies of generalized electroclinical syndromes can provide guidance regarding long-term seizure, cognitive, and psychosocial outcomes. Childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and idiopathic generalized epilepsy with generalized tonic-clonic seizures alone are electroclinical syndromes typically associated with normal intellect and good response to antiseizure medications. However, studies have demonstrated significantly poorer psychosocial outcomes than expected for these syndromes, regardless of seizure control. Potential causes for this include underlying abnormalities in social skills, social stigma, and underlying abnormalities in brain development and maturation.

  18. 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.

  19. Bmi-1 absence causes premature brain degeneration.

    Directory of Open Access Journals (Sweden)

    Guangliang Cao

    Full Text Available Bmi-1, a polycomb transcriptional repressor, is implicated in cell cycle regulation and cell senescence. Its absence results in generalized astrogliosis and epilepsy during the postnatal development, but the underlying mechanisms are poorly understood. Here, we demonstrate the occurrence of oxidative stress in the brain of four-week-old Bmi-1 null mice. The mice showed various hallmarks of neurodegeneration including synaptic loss, axonal demyelination, reactive gliosis and brain mitochondrial damage. Moreover, astroglial glutamate transporters and glutamine synthetase decreased in the Bmi-1 null hippocampus, which might contribute to the sporadic epileptic-like seizures in these mice. These results indicate that Bmi-1 is required for maintaining endogenous antioxidant defenses in the brain, and its absence subsequently causes premature brain degeneration.

  20. 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.

  1. 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.

  2. Epidemiological study of mortality in epilepsy in a Spanish population.

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    Chamorro-Muñoz, María Isabel; García-Martín, Guillermina; Pérez-Errazquin, Francisco; Romero-Acebal, Manuel; García-Rodríguez, Antonio; Gutiérrez-Bedmar, Mario

    2017-03-01

    Studies concerning mortality in epilepsy have been performed primarily in Northern-Central Europe and US. The aim of this study was to provide information about mortality in people with epilepsy in Southern European countries. We studied a Spanish prevalence and incidence cohort of 2309 patients aged ≥14 years with epilepsy who were treated in an outpatient epilepsy clinic between 2000 and 2013. The deceased were identified through Civil Registries. Causes of death were determined using death certificates, forensic autopsies, hospital reports, family practitioners, and care-givers' records. Standardised mortality ratios (SMRs) were calculated. In a total of 15,865 person-years of follow-up, 152 patients died, resulting in an SMR of 2.11 (95% CI 1.79-2.47), which was higher for those aged 14-24. There was also a high rate of death for symptomatic epilepsies, progressive causes (SMR=6.12, CI 3.50-9.94), and remote causes (SMR=2.62, CI 2.12-3.21). High SMRs were found for all kinds of epilepsy and for respiratory and tumoural causes. Patients who died of epilepsy itself were 12.5%. Sudden unexpected death in epilepsy incidence was 0.44:1000. Death from status epilepticus incidence was 20:100,000. SMRs for external causes were of no statistical significance. This is the first epidemiological study to examine rate of mortality in epilepsy in a Southern European country. The identified mortality pattern is similar to the one provided by researchers from developed countries. The similarities between our results concerning epilepsy-related deaths and those provided by population-based studies are the result of the scarcely selected character of our study cohort. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  3. Family communication in the context of pediatric epilepsy: A systematic review.

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    O'Toole, S; Benson, A; Lambert, V; Gallagher, P; Shahwan, A; Austin, J K

    2015-10-01

    In childhood chronic illness, family communication can impact the child's and parents' psychosocial well-being. However, little is known about family communication in the context of epilepsy in childhood. The aim of this systematic review was to identify the existing evidence available on communication strategies adopted by families living with childhood epilepsy, including; the facilitators, barriers and challenges experienced by families when choosing to communicate, or not, about epilepsy; and the consequences of this communication. Papers published in the English language prior to March 2015 were identified following a search of six electronic databases: PubMed, MEDLINE, Web of Science, PsycINFO, CINAHL, and Scopus. Studies were included if they involved a sample of parents of children with epilepsy or children/young people with epilepsy (0-18years of age) and used qualitative, quantitative, or mixed methods. Following a comprehensive search and screening process, 26 studies were identified as eligible for inclusion in the review. No studies identified specific communication strategies adopted by families living with childhood epilepsy. Some studies found that talking about epilepsy with family members had positive consequences (e.g., communication as an effective coping strategy), with no negative consequences reported in any of the studies. The main barrier to communication for parents was an unwillingness to use the word "epilepsy" because of the perceived negative social connotations associated with the health condition. For children with epilepsy, barriers were as follows: parental desire to keep epilepsy a secret, parents' tendency to deny that the child had epilepsy, parental overprotection, and parents' tendency to impose greater restrictions on the child with epilepsy than on siblings without epilepsy. Future research investigating the communication strategies of families living with epilepsy is needed in order to create effective communication

  4. Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study.

    Science.gov (United States)

    Corey, Linda A; Pellock, John M; Kjeldsen, Marianne J; Nakken, Karl Otto

    2011-11-01

    Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868 dizygotic pairs ascertained from population-based twin registries in Denmark, Norway and the United States. Syndrome type was determined based on medical record information and detailed clinical interviews and classified using the International Classification Systems for the Epilepsies and Epileptic Syndromes. Concordance rates were significantly increased in monozygotic versus dizygotic pairs for all major syndrome groups except localization-related cryptogenic epilepsy. Among generalized epilepsies, genetic factors were found to play an important role in the determination of childhood absence, juvenile absence, juvenile myoclonic, and idiopathic generalized epilepsy; and to a lesser degree for epilepsies with grand mal seizures on awakening. Among localization-related epilepsies, genetic factors contributed to risk for localization-related idiopathic and symptomatic syndromes overall, but did not appear to play an important role in determining risk for frontal, occipital or temporal lobe epilepsy. These results suggest that, while genetic factors contribute to risk for major syndrome types, determined when possible, their contribution to risk for localization-related syndrome sub-types, as defined by specific focality, may be modest. Copyright © 2011 Elsevier B.V. All rights reserved.

  5. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

    Science.gov (United States)

    2014-01-01

    Summary Background The epilepsies are a clinically heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsy, probably because of relatively small sample sizes 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 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 genotyping platforms across sites, investigators at each site conducted a linear mixed-model association analysis for each dataset. Combining summary statistics, we conducted fixed-effects meta-analyses of all epilepsy, focal epilepsy, and genetic generalised epilepsy. We set the genome-wide significance threshold at panalysis. Meta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10−10), implicating SCN1A, and at 4p15.1 (p=5·44 × 10−9), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy. For the cohort of genetic generalised epilepsy, we noted a single signal at 2p16.1 (p=9·99 × 10−9), implicating VRK2 or FANCL. No single nucleotide polymorphism achieved genome-wide significance for focal epilepsy. Interpretation This meta-analysis describes a new locus 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

  6. Mitochondrial disease and epilepsy.

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    Rahman, Shamima

    2012-05-01

    Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. Individuals with mitochondrial epilepsy are frequently prescribed multiple anticonvulsants, and the role of vitamins and other nutritional supplements and the ketogenic diet remain unproven. © The Author. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  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. 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.

  9. The language of absence.

    Science.gov (United States)

    Gurevich, Hayuta

    2008-06-01

    This paper will focus on the concept of 'absence', which describes a continuum of non-responsiveness and misattunement of the environment in the stage of absolute dependence; it refers to concepts like lack, failure, non-recognition, impingement, neglect, tantalizing, ranging to mental, physical and sexual abuse. An extreme external absence causes shock and fear. The automatic survival response is an inner absence, an intrapsychic absence, a dissociation of parts of the self. The external and the inner absence are the negative image of each other. The concept of absence points to the synchronicity of outer and inner reality and portrays the non-responded-to needs of the self. This point of view of the development of psychopathology of the self on the basis of massive dissociation is inherently an intersubjective-field-theory. As the inner absence is created as a reaction to an absence of the other, in analysis - the analyst has an active role in reviving it. This paper will explore the language of absence, that is, the derivatives and consequences of these situations in the inner realm, and in the relations with the analyst. It is the author's contention that understanding and speaking this language has important clinical and technical implications. Understanding the language of absence enables the analyst to recognize its intersubjective and its intrapsychic presence, to provide an environment that allows for its revival, and to facilitate and regulate the annihilation anxiety that awakens when dissociated self-states are experienced. When the absence is present, i.e. when the traumatic experience and the dissociated reactions to it are experienced in an attuned relationship, it is rendered with meaning, symbolization, and validation, and enables the survival mode of dissociation to be relinquished.

  10. Photosensitive Epilepsy In Kashmir Valley

    Directory of Open Access Journals (Sweden)

    Saleem S M

    2003-01-01

    Full Text Available A random population of 618 people with epilepsy hailing from different parts of Kashmir valley was screened for photosensitivity both clinically and on a standard protocol of intermittent photic stimulation (IPS provoked EEG recordings. Six (0.9% patients with a mean age of 15+6.57 years were found to be photosensitive; five had generalized and one had absence seizures. The baseline EEG in all patients showed generalized epileptiform discharges. On IPS, similar EEG findings were obtained with a narrow range of stimulus frequency i.e. 7-12 cycles/sec. There appears to be a low prevalence of photo-sensitivity in our epileptic population, possibly related to genetic factors.

  11. Epilepsy and the law.

    Science.gov (United States)

    Joubert, A F; Verschoor, T; von Rensburg, P H

    1997-01-01

    Epilepsy, and the treatment thereof, has effects on many aspects of life, with far-reaching implications for the patient, his family and the community. Epilepsy causes a great deal of social difficulties and restrictions due to the associated stigma and prejudice. It is not a rare condition and is associated with many other conditions, such as schizophrenia, mental retardation, autism, and terminal Alzheimer's disease. Other associated disorders may include cognitive difficulties, personality disturbances or psychoses of various types and durations. Only by the 1850's was epilepsy defined as a "neurological" disease.

  12. Epilepsy and law.

    Science.gov (United States)

    Beran, Roy G

    2008-05-01

    Epilepsy can define who one is rather than the diagnosis one has. It may be considered under the rubric of disability with legislative protection against discrimination. Those seeking remedy should investigate alternative dispute resolution in preference to litigation. Many areas of the life of a person with epilepsy deserve examination when considering epilepsy and law. Just some of these include: duty of care; informed consent; driving; research; social interactions; insurance; recreational pursuits; employment; and privacy. This article examines the legal implications and ramifications of these selected topics, acknowledging that the limited scope of the article has only exposed the tip of the iceberg to encourage further exploration.

  13. Genetics Home Reference: juvenile myoclonic epilepsy

    Science.gov (United States)

    ... Home Health Conditions Juvenile myoclonic epilepsy Juvenile myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). ...

  14. 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

    Science.gov (United States)

    Boissé Lomax, Lysa; Bayly, Marta A; Hjalgrim, Helle; Møller, Rikke S; Vlaar, Annemarie M; Aaberg, Kari M; Marquardt, Iris; Gandolfo, Luke C; Willemsen, Michèl; Kamsteeg, Erik-Jan; O'Sullivan, John D; Korenke, G Christoph; Bloem, Bastiaan R; de Coo, Irenaeus F; Verhagen, Judith M A; Said, Ines; Prescott, Trine; Stray-Pedersen, Asbjørg; Rasmussen, Magnhild; Vears, Danya F; Lehesjoki, Anna-Elina; Corbett, Mark A; Bahlo, Melanie; Gecz, Jozef; Dibbens, Leanne M; Berkovic, Samuel F

    2013-04-01

    We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype in 12 patients with GOSR2 mutations, including six new unrelated subjects. Clinical presentation was remarkably similar with early onset ataxia (average 2 years of age), followed by myoclonic seizures at the average age of 6.5 years. Patients developed multiple seizure types, including generalized tonic clonic seizures, absence seizures and drop attacks. All patients developed scoliosis by adolescence, making this an important diagnostic clue. Additional skeletal deformities were present, including pes cavus in four patients and syndactyly in two patients. All patients had elevated serum creatine kinase levels (median 734 IU) in the context of normal muscle biopsies. Electroencephalography revealed pronounced generalized spike and wave discharges with a posterior predominance and photosensitivity in all patients, with focal EEG features seen in seven patients. The disease course showed a relentless decline; patients uniformly became wheelchair bound (mean age 13 years) and four had died during their third or early fourth decade. All 12 cases had the same variant (c.430G>T, G144W) and haplotype analyses confirmed a founder effect. The cases all came from countries bounding the North Sea, extending to the coastal region of Northern Norway. 'North Sea' progressive myoclonus epilepsy has a homogeneous clinical presentation and relentless disease course allowing ready identification from the other progressive myoclonus epilepsies.

  15. Epilepsy and cysticercosis in Northwest Cameroon: a serological study.

    Science.gov (United States)

    Elliott, Irene; Jerome, Ambanibe; Angwafor, Samuel A; Smith, Mary Lou; Takougang, Innocent; Noh, John; Tsang, Victor; Wilkins, Patricia; Cockburn, Lynn; Keystone, Jay; Njamnshi, Alfred K; Snead, O Carter

    2013-05-01

    The prevalence of epilepsy in Cameroon is higher than that of the industrialized world and other developing countries. Neurocysticercosis due to Taenia solium infestation has been reported as a major cause of epilepsy in some parts of Cameroon although there are some conflicting data. The prevalence of epilepsy is especially high in the Momo division of the North-West Province of Cameroon. We hypothesized that individuals with epilepsy in this region have a higher percentage of seropositivity to T. solium than matched controls. We conducted a case-control study in the Momo subdivision of Ngie. Individuals with epilepsy were recruited from the health centers in Ngie. Control subjects were selected from 19 Ngie villages. Potential cases of people with epilepsy (PWE) were identified through a questionnaire applied by trained field workers, using history of epileptic seizures as a key indicator. Blood samples were taken from all consenting individuals by finger prick, stored in StabilZyme Select, and assayed for antibodies to T. solium in an Atlanta based reference laboratory. We accrued 249 patients with epilepsy, of whom 237 met the inclusion criteria, and 245 age-matched controls. There was no significant difference in seropositivity to T. solium between those individuals with epilepsy (5%) and controls (4.9%). Our data do not support the hypothesis that epilepsy is associated with seropositivity to T. solium. It is highly unlikely that cysticercosis plays a causative role in the high prevalence of epilepsy in this region of Cameroon. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  16. [Duchenne and Becker muscular dystrophy complicated with epilepsy].

    Science.gov (United States)

    Cuijie, Wei; Haipo, Yang; Xiaona, Fu; Aijie, Liu; Juan, Ding; Shujuan, Song; Shuang, Wang; Xingzhi, Chang; Yanling, Yang; Yuwu, Jiang; Hui, Xiong

    2015-04-01

    To summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation. By a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation. (1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case. The prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.

  17. Pregabalin in the management of partial epilepsy

    Directory of Open Access Journals (Sweden)

    Amir M Arain

    2009-07-01

    Full Text Available Amir M ArainVanderbilt University Medical Center, Department of Neurology, Nashville, TN, USAAbstract: Pregabalin is a new antiepileptic medication that works by binding to alpha 2 delta subunit of the voltage-dependent calcium channels present in presynaptic neurons. Its pharmacokinetic advantages include rapid and almost complete absorption, lack of protein binding, linear kinetics, absence of enzyme induction, and absence of interactions with other drugs. Pregabalin was found effective as adjunctive therapy for refractory partial-onset seizures, with up to 51% responder at a dose of 600 mg/day. The lowest effective dose was 150 mg/day. Pregabalin is also approved for treatment of painful diabetic polyneuropathy, postherpetic neuralgia and pain with fibromyalgia. Studies also suggest a beneficial effect on sleep and generalized anxiety disorders. Its main adverse effects in randomized adjunctive trials in adults have been mild to moderate. Most common side effects were dizziness, ataxia, somnolence and diplopia. Weight gain was not prominent in pivotal pregabalin trials, but was more problematic in long-term postmarketing analyses in epilepsy patients. Pregabalin, with its potent antiseizure effect, favorable pharmacokinetic profile, and effectiveness in common co-morbidities is an important addition to the treatment of epilepsy.Keywords: epilepsy, seizures, pregabalin, pharmacology, antiepileptic drugs, tolerability

  18. Myoclonic Absence Seizures in Dravet Syndrome.

    Science.gov (United States)

    Myers, Kenneth A; Scheffer, Ingrid E

    2017-05-01

    Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more than 80% of affected individuals. The core clinical features of Dravet syndrome include febrile and afebrile seizures beginning before 12 months; multiple seizure types, usually medically refractory, including hemiclonic, generalized tonic-clonic, focal impaired awareness, myoclonic, and absence seizures; status epilepticus; and normal early development with plateau or regression by age two years. Myoclonic absence seizures have not previously been described. This 20-year-old man had infantile-onset epilepsy with the classical clinical features of Dravet syndrome and a de novo A1326P SCN1A mutation. By five years of age, photosensitive myoclonic absence seizures had become his dominant seizure type, occurring up to 20 times per day. The seizures were refractory to multiple antiepileptic medications and a vagus nerve stimulator. Although photosensitivity is well recognized in Dravet syndrome, myoclonic absence seizures have not been previously reported. This rare seizure type may be underreported in Dravet syndrome, as the myoclonic features may be subtle and can be missed if thorough history taking and video recordings are not available. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. FMRI in Epilepsy

    Science.gov (United States)

    de Araújo, Dráulio B.; Araújo, David; Rosset, Sara; Wichert-Ana, Lauro; Baffa, Oswaldo; Ceiki Sakamoto, Américo; Pereira Leite, João; Santos, Antônio Carlos

    2004-09-01

    Localization of eloquent areas is of utmost importance in neurosurgical planning, especially in epilepsy surgery. Mass, destructive, or developmental lesions may distort brain anatomy. Functional MRI (fMRI) can localize eloquent areas despite these distortions and provide useful information for the planning of tailored resections. This paper deals with the major issues concerning the use of fMRI in epilepsy surgery, including its limitations. We present results derived from the clinical experience of the Epilepsy Surgery Center at Ribeirão Preto School of Medicine, where typical finger tapping and language fMRI paradigms were applied to 40 patients being considered for resective epilepsy surgery around eloquent cortex. Our results confirmed that although fMRI may not be used as a single tool for surgical planning, in conjunction with other methods it is useful in reducing the surgical time, it improves lesion resection, and prevents functional deficits.

  20. Mesial frontal lobe epilepsy.

    Science.gov (United States)

    Unnwongse, Kanjana; Wehner, Tim; Foldvary-Schaefer, Nancy

    2012-10-01

    Mesial frontal lobe epilepsies can be divided into epilepsies arising from the anterior cingulate gyrus and those of the supplementary sensorimotor area. They provide diagnostic challenges because they often lack lateralizing or localizing features on clinical semiology and interictal and ictal scalp electroencephalographic (EEG) recordings. A number of unique semiologic features have been described over the last decade in patients with mesial frontal lobe epilepsy (FLE). There are few reports of applying advanced neurophysiologic techniques such as electrical source imaging, magnetoencephalography, EEG/functional magnetic resonance imaging, or analysis of high-frequency oscillations in patients with mesial FLE. Despite these diagnostic challenges, it seems that patients with mesial FLE benefit from epilepsy surgery to the same extent or even better than patients with FLE do, as a whole.

  1. Nocturnal Frontal Lobe Epilepsy

    National Research Council Canada - National Science Library

    Ryvlin, Philippe; Rheims, Sylvain; Risse, Gail

    2006-01-01

    Nocturnal frontal lobe epilepsy (NFLE) is a condition primarily characterized by seizures occurring exclusively or predominantly during sleep, the semiology of which suggest a frontal lobe origin and, more specifically, the involvement...

  2. Epilepsy - children - discharge

    Science.gov (United States)

    ... them climb on a jungle gym or perform gymnastics. Ask your child's doctor about your child participating ... Philadelphia, PA: Elsevier; 2016:chap 593. Read More Brain aneurysm repair Brain surgery Epilepsy - overview Seizures Stereotactic ...

  3. Chromosomal Abnormalties with Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-02-01

    Full Text Available The correlation between specific chromosome abnormalties and various epilepsies was investigated by a study of 76 patients’ records obtained by questionnaires distributed to members of Kyoto Multi-institutional Study Group of Pediatric Neurology.

  4. Temporal lobe epilepsy semiology.

    Science.gov (United States)

    Blair, Robert D G

    2012-01-01

    Epilepsy represents a multifaceted group of disorders divided into two broad categories, partial and generalized, based on the seizure onset zone. The identification of the neuroanatomic site of seizure onset depends on delineation of seizure semiology by a careful history together with video-EEG, and a variety of neuroimaging technologies such as MRI, fMRI, FDG-PET, MEG, or invasive intracranial EEG recording. Temporal lobe epilepsy (TLE) is the commonest form of focal epilepsy and represents almost 2/3 of cases of intractable epilepsy managed surgically. A history of febrile seizures (especially complex febrile seizures) is common in TLE and is frequently associated with mesial temporal sclerosis (the commonest form of TLE). Seizure auras occur in many TLE patients and often exhibit features that are relatively specific for TLE but few are of lateralizing value. Automatisms, however, often have lateralizing significance. Careful study of seizure semiology remains invaluable in addressing the search for the seizure onset zone.

  5. Medical Marijuana for Epilepsy?

    National Research Council Canada - National Science Library

    Kolikonda, Murali K; Srinivasan, Kavitha; Enja, Manasa; Sagi, Vishwanath; Lippmann, Steven

    2016-01-01

    Treatment-refractory epilepsy remains an important clinical problem. There is considerable recent interest by the public and physicians in using medical marijuana or its derivatives to treat seizures...

  6. 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...

  7. 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.

  8. Practices of epilepsy during pregnancy: a survey of Canadian neurologists.

    Science.gov (United States)

    Morrison, C; Rieder, M J

    1993-01-01

    The optimal management of epilepsy in epileptic pregnancies remains controversial. We surveyed all neurologists in Canada to determine their usual practice in managing epilepsy during pregnancy. We identified 436 neurologists in the 1990 edition of the Canadian Handbook of Medical and Surgical Specialists. We mailed a questionnaire enquiring with respect to details of management of epilepsy during pregnancy to all neurologists; in the case of nonrespondents, a follow-up questionnaire was mailed eight weeks later. We achieved a 65% response rate. We found that carbamazepine was the antiepileptic drug of first choice for the management of epilepsy during pregnancy among the majority of neurologists (75%), while phenobarbital (10%) and phenytoin (11%) were recommended much less frequently. Eight percent of respondents never used polytherapy during pregnancy. Despite recent controversy over the reproductive safety of carbamazepine, monotherapy with carbamazepine is regarded by the vast majority of Canadian neurologists as the therapy of first choice for epilepsy during pregnancy.

  9. Mutations in KCNT1 cause a spectrum of focal epilepsies

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre; Heron, Sarah E.; Larsen, Line H. G.

    2015-01-01

    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...

  10. 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

  11. Rolandic epilepsy and dyslexia

    OpenAIRE

    Oliveira,Ecila P.; Neri,Marina L.; Capelatto, Lívia L; Guimarães,Catarina A.; Guerreiro, Marilisa M.

    2014-01-01

    Objective Although benign epilepsy with centrotemporal spikes (BECTS) is an idiopathic, age-related epilepsy syndrome with favorable outcome, recent studies have shown impairment in specific neuropsychological tests. The objective of this study was to analyze the comorbidity between dyslexia and BECTS. Method Thirty-one patients with clinical and electroencephalographic diagnosis of BECTS (group A) and 31 paired children (group B) underwent a language and neuropsychological assessment perfo...

  12. Teaching the Student with Epilepsy: A Dilemma or an Opportunity.

    Science.gov (United States)

    Walton, Ann Viva

    The paper looks at epilepsy, with emphasis on student problems and the role of the teacher. Initial sections describe characteristics of absence seizures, generalized tonic-clonic (grand mal) seizures, and complex partial seizures. The educator's role is considered relating to three areas: medical problems, social problems, and psychological…

  13. Canine epilepsy as a translational model?

    Science.gov (United States)

    Potschka, Heidrun; Fischer, Andrea; von Rüden, Eva-Lotta; Hülsmeyer, Velia; Baumgärtner, Wolfgang

    2013-04-01

    Dogs with spontaneous diseases can exhibit a striking similarity in etiology, clinical manifestation, and disease course when compared to human patients. Therefore, dogs are intensely discussed as a translational model of human disease. In particular, genetic studies in selected dog breeds serve as an excellent tool to identify epilepsy disease genes. In addition, canine epilepsy is discussed as a translational platform for drug testing. On one hand, epileptic dogs might serve as an interesting model by allowing the evaluation of drug efficacy and potency under clinical conditions with a focus on chronic seizures resistant to standard medication, preventive strategies, or status epilepticus. On the other hand, several limitations need to be considered including owner-based seizure monitoring, species differences in pharmacokinetics and drug interactions, as well as cost-intensiveness. The review gives an overview on the current state of knowledge regarding the etiology, clinical manifestation, pathology, and drug response of canine epilepsy, also pointing out the urgent need for further research on specific aspects. Moreover, the putative advantages, the disadvantages, and limitations of antiepileptic drug testing in canine epilepsy are critically discussed. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  14. Pediatric epilepsy surgery.

    Science.gov (United States)

    Dorfmüller, Georg; Delalande, Olivier

    2013-01-01

    Whereas there is no specific neurosurgical technique in pediatric epilepsy, the frequency of each type of surgery is very different from epilepsy surgery applied in adults, and reflects the underlying etiologies, which are much more diverse in children, with malformations of cortical development and tumors as the prevailing etiologies. Extensive resective or disconnective procedures for extratemporal epilepsy are more frequently performed in infants and younger children, whereas temporo-mesial resection is by far the most common surgical treatment for adults with epilepsy. More recently, less invasive techniques in children with an extensive epileptogenic zone, such as multilobar disconnection, hemispherotomy and other functional hemispherectomy variants, have been introduced in order to reduce duration of surgery, perioperative morbidity and length of hospital stay. Likewise, minimally invasive techniques are utilized, such as the endoscopic disconnection of hypothalamic hamartomas for gelastic epilepsy. This development has been encouraged with the introduction of image-guided navigation systems for the preoperative planning and during surgery. Historically, epilepsy surgery for children has been established much later than for adults. Apart from the particular aspects in perioperative management of younger infants, surgery-related morbidity as well as seizure outcome is in general similar to those in adults, depending rather on each type of surgery. Copyright © 2013 Elsevier B.V. All rights reserved.

  15. [Epilepsy and religion].

    Science.gov (United States)

    Nakken, Karl O; Brodtkorb, Eylert

    2011-07-01

    Throughout mankind's history, epilepsy has been perceived as a mysterious and supernatural disorder. People with epileptic seizures were seen either as demonic or holy. Here we present a survey of our current knowledge on the association between epilepsy and religion from a medical viewpoint. The article is based on a non-systematic search of the database PubMed, biographies of Wise-Knut, and the authors' own experiences. A number of people with epilepsy, particularly those with temporal lobe epilepsy, have reported experiencing religious feelings during their seizures. Some experience a feeling of perfect harmony, the presence of God or a state of ecstasy. Insula is probably of importance for the seizure semiology. Postictally, some may develop religious delusions that can last for several days. A subgroup have an interictal personality characterized by a preoccupation with philosophical or religious questions, as well as hypergraphia. Wise-Knut, who lived in the 1800 s, is a well known example of this in Norway. There is now some evidence that a number of religious people, including prophets, saints, and cult founders, may have had temporal lobe seizures. Using epilepsy as a model to explain spiritual experiences is controversial. However, temporal lobe epilepsy has probably influenced our religious and literary history more than has been previously acknowledged.

  16. Epilepsy and physical exercise.

    Science.gov (United States)

    Pimentel, José; Tojal, Raquel; Morgado, Joana

    2015-02-01

    Epilepsy is one of the commonest neurologic diseases and has always been associated with stigma. In the interest of safety, the activities of persons with epilepsy (PWE) are often restricted. In keeping with this, physical exercise has often been discouraged. The precise nature of a person's seizures (or whether seizures were provoked or unprovoked) may not have been considered. Although there has been a change in attitude over the last few decades, the exact role of exercise in inducing seizures or aggravating epilepsy still remains a matter of discussion among experts in the field. Based mainly on retrospective, but also on prospective, population and animal-based research, the hypothesis that physical exercise is prejudicial has been slowly replaced by the realization that physical exercise might actually be beneficial for PWE. The benefits are related to improvement of physical and mental health parameters and social integration and reduction in markers of stress, epileptiform activity and the number of seizures. Nowadays, the general consensus is that there should be no restrictions to the practice of physical exercise in people with controlled epilepsy, except for scuba diving, skydiving and other sports at heights. Whilst broader restrictions apply for patients with uncontrolled epilepsy, individual risk assessments taking into account the seizure types, frequency, patterns or triggers may allow PWE to enjoy a wide range of physical activities. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  17. A predictive risk model for medical intractability in epilepsy.

    Science.gov (United States)

    Huang, Lisu; Li, Shi; He, Dake; Bao, Weiqun; Li, Ling

    2014-08-01

    This study aimed to investigate early predictors (6 months after diagnosis) of medical intractability in epilepsy. All children models were performed to determine the risk factors for developing medical intractability. Receiver operating characteristic curve was applied to fit the best compounded predictive model. A total of 649 patients were identified, out of which 119 (18%) met the study definition of intractable epilepsy at 2 years after diagnosis, and the rate of intractable epilepsy in patients with idiopathic syndromes was 12%. Multivariate logistic regression analysis revealed that neurodevelopmental delay, symptomatic etiology, partial seizures, and more than 10 seizures before diagnosis were significant and independent risk factors for intractable epilepsy. The best model to predict medical intractability in epilepsy comprised neurological physical abnormality, age at onset of epilepsy under 1 year, more than 10 seizures before diagnosis, and partial epilepsy, and the area under receiver operating characteristic curve was 0.7797. This model also fitted best in patients with idiopathic syndromes. A predictive model of medically intractable epilepsy composed of only four characteristics is established. This model is comparatively accurate and simple to apply clinically. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. 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.

  19. Analysis of common bean expressed sequence tags identifies sulfur metabolic pathways active in seed and sulfur-rich proteins highly expressed in the absence of phaseolin and major lectins

    Directory of Open Access Journals (Sweden)

    Sharpe Andrew

    2011-05-01

    Full Text Available Abstract Background A deficiency in phaseolin and phytohemagglutinin is associated with a near doubling of sulfur amino acid content in genetically related lines of common bean (Phaseolus vulgaris, particularly cysteine, elevated by 70%, and methionine, elevated by 10%. This mostly takes place at the expense of an abundant non-protein amino acid, S-methyl-cysteine. The deficiency in phaseolin and phytohemagglutinin is mainly compensated by increased levels of the 11S globulin legumin and residual lectins. Legumin, albumin-2, defensin and albumin-1 were previously identified as contributing to the increased sulfur amino acid content in the mutant line, on the basis of similarity to proteins from other legumes. Results Profiling of free amino acid in developing seeds of the BAT93 reference genotype revealed a biphasic accumulation of gamma-glutamyl-S-methyl-cysteine, the main soluble form of S-methyl-cysteine, with a lag phase occurring during storage protein accumulation. A collection of 30,147 expressed sequence tags (ESTs was generated from four developmental stages, corresponding to distinct phases of gamma-glutamyl-S-methyl-cysteine accumulation, and covering the transitions to reserve accumulation and dessication. Analysis of gene ontology categories indicated the occurrence of multiple sulfur metabolic pathways, including all enzymatic activities responsible for sulfate assimilation, de novo cysteine and methionine biosynthesis. Integration of genomic and proteomic data enabled the identification and isolation of cDNAs coding for legumin, albumin-2, defensin D1 and albumin-1A and -B induced in the absence of phaseolin and phytohemagglutinin. Their deduced amino acid sequences have a higher content of cysteine than methionine, providing an explanation for the preferential increase of cysteine in the mutant line. Conclusion The EST collection provides a foundation to further investigate sulfur metabolism and the differential accumulation of

  20. Factors affecting epilepsy development and epilepsy prognosis in cerebral palsy.

    Science.gov (United States)

    Mert, Gulen Gul; Incecik, Faruk; Altunbasak, Sakir; Herguner, Ozlem; Mert, Mustafa Kurthan; Kiris, Nurcihan; Unal, Ilker

    2011-08-01

    A study was conducted between November 2006 and October 2009 to determine the factors predicting the presence and prognosis of epilepsy in patients with cerebral palsy. We enrolled 2 groups of patients: 42 with cerebral palsy in group 1 and 56 patients with cerebral palsy and epilepsy in group 2. The subjects in group 2 were considered to have good epilepsy prognosis if they were free of seizures for the previous year; otherwise they were considered to have poor epilepsy prognosis. In group 2, neonatal epilepsy, family history of epilepsy, and moderate to severe mental retardation were significantly higher than in group 1 (P history of epilepsy, and mental retardation were found to be important and independent predictors of development of epilepsy in patients with cerebral palsy. Copyright © 2011 Elsevier Inc. All rights reserved.

  1. Becoming comfortable with "my" epilepsy: Strategies that patients use in the journey from diagnosis to acceptance and disclosure.

    Science.gov (United States)

    Pembroke, Sinead; Higgins, Agnes; Pender, Niall; Elliott, Naomi

    2017-05-01

    Proponents of resilience theory have highlighted the importance of understanding the processes of resilience. The objective of the study was to explore how people with epilepsy reach a stage of being comfortable with their epilepsy. Identifying the processes used is important to developing effective self-management for people who are newly diagnosed with epilepsy. A grounded theory approach involving forty-nine consenting adult people with epilepsy (18 years and over), was used to explore their first-hand experiences of coming to terms with their epilepsy. Data were collected using one-to-one interview to elicit in-depth personal accounts of people with epilepsy's experiences of adjusting to their diagnosis of epilepsy. Using grounded theory's systematic inductive-deductive process data of analysis, the core findings that emerged from the open coding and inductive phase were analyzed independently by two researchers to ensure that findings were verified and validated across the interview dataset. Three core categories emerged as central to the journey that people experience after receiving their diagnosis of epilepsy towards becoming comfortable with their epilepsy. These were: i) meaning of "my" epilepsy diagnosis, to capture people with epilepsy's feelings, reactions and concerns after being diagnosed with epilepsy, ii) useful strategies, to identify what people with epilepsy did to become comfortable with their diagnosis, and iii) being comfortable with my epilepsy, to account for the frame of mind of people with epilepsy when they reach a point of accepting their diagnosis. The findings provide important insights into the personal experiences of people with epilepsy after receiving their diagnosis and identifies a range of strategies they find useful in helping them reach a position of acceptance and being 'comfortable with my epilepsy'. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. 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.

  3. EEG/fMRI contributions to our understanding of genetic generalized epilepsies.

    Science.gov (United States)

    Kay, Benjamin; Szaflarski, Jerzy P

    2014-05-01

    The first reports of combined EEG and fMRI used for evaluation of epileptic spikes date back to the mid-90s. At that time, the technique was called EEG-triggered fMRI--the "triggered" corresponded to an epilepsy specialist reviewing live EEG while the patient was located in the scanner; after the spike was identified, a scan was initiated to collect the data. Since then major progress has been made in combined EEG/fMRI data collection and analyses. These advances allow studying the electrophysiology of genetic generalized epilepsies (GGEs) in vivo in greater detail than ever. In addition to continuous data collection, we now have better methods for removing physiologic and fMRI-related artifacts, more advanced understanding of the hemodynamic response functions, and better computational methods to address the questions regarding the origins of the epileptiform discharge generators in patients with GGEs. These advances have allowed us to examine numerous cohorts of children and adults with GGEs while not only looking for spike and wave generators but also examining specific types of GGEs (e.g., juvenile myoclonic epilepsy or childhood absence epilepsy), drug-naïve patients, effects of medication resistance, or effects of epileptiform abnormalities and/or seizures on brain connectivity. While the discussion is ongoing, the prevailing thought is that the GGEs as a group are a network disorder with participation from multiple nodes including the thalami and cortex with the clinical presentation depending on which node of the participating network is affected by the disease process. This review discusses the contributions of EEG/fMRI to our understanding of GGEs. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. K+ CHANNELEPSY: progress in the neurobiology of potassium channels and epilepsy

    Directory of Open Access Journals (Sweden)

    Maria Cristina D'Adamo

    2013-09-01

    Full Text Available K+ channels are important determinants of seizure susceptibility. These membrane proteins, encoded by more than 70 genes, make the largest group of ion channels that fine-tune the electrical activity of neuronal and non-neuronal cells in the brain. Their ubiquity and extremely high genetic and functional diversity, unmatched by any other ion channel type, place K+ channels as primary targets of genetic variations or perturbations in K+-dependent homeostasis, even in the absence of a primary channel defect. It is therefore not surprising that numerous inherited or acquired K+ channels dysfunctions have been associated with several neurologic syndromes, including epilepsy, which often generate confusion in the classification of the associated diseases. Therefore, we propose to name the K+ channels defects underlying distinct epilepsies as K+ channelepsies, and introduce a new nomenclature (e.g. Kx.y-channelepsy, following the widely used K+ channel classification, which could be also adopted to easily identify other channelopathies involving Na+ (e.g. Navx.y-phenotype, Ca2+ (e.g. Cavx.y-phenotype, and Cl- channels. Furthermore, we discuss novel genetic defects in K+ channels and associated proteins that underlie distinct epileptic phenotypes in humans, and analyze critically the recent progress in the neurobiology of this disease that has also been provided by investigations on valuable animal models of epilepsy. The abundant and varied lines of evidence discussed here strongly foster assessments for variations in genes encoding for K+ channels and associated proteins in patients with idiopathic epilepsy, provide new avenues for future investigations, and highlight these proteins as critical pharmacological targets.

  5. 77 FR 59197 - Epilepsy Program

    Science.gov (United States)

    2012-09-26

    ... HUMAN SERVICES Health Resources and Services Administration Epilepsy Program AGENCY: Health Resources and Services Administration, HHS. ACTION: Notice of Noncompetitive Program Expansion Supplement Award... Program to the Epilepsy Foundation of America (U23MC19824) to support additional evaluation activities...

  6. 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

  7. Psychiatric disorders after epilepsy diagnosis: a population-based retrospective cohort study.

    Directory of Open Access Journals (Sweden)

    Hsiu-Ju Chang

    Full Text Available BACKGROUND: Psychiatric manifestations after occurrence of epilepsy have often been noted. However, the association between newly diagnosed epilepsy and psychiatric disorders afterward is not completely understood. We conducted two longitudinal cohorts for patients with and without epilepsy to investigate the risk factors and hazard ratios of developing psychiatric disorders after patients were newly diagnosed with epilepsy. METHODS: We identified 938 patients with a new diagnosis of epilepsy and 518,748 participants without epilepsy from the National Health Insurance Research Database in 2000-2002 and tracked them until 2008. We compared the incidence of developing psychiatric disorders between the two cohorts, evaluated risk factors and measured the associated hazard ratios (HRs and 95% confidence intervals (CIs of developing psychiatric disorders. FINDINGS: The incidences of psychiatric disorders for people with and without epilepsy were 94.1 and 22.6 per 1000 person-years, respectively. After adjusting the covariates, the epilepsy cohort showed the highest risks in mental retardation (HR 31.5, 95% CI 18.9 to 52.4, bipolar disorder (HR 23.5, 95% CI 11.4 to 48.3 and alcohol or drug psychosis (HR 18.8, 95% CI 11.1 to 31.8 among psychiatric complications developed after newly diagnosed epilepsy. The risk increased with epileptic general seizure and frequency of outpatient visits for epilepsy, as well as with emergency room visits and hospitalizations for epilepsy, and with older age. Chronologically, the highest risk occurred in the first year after epilepsy diagnosis (HR 11.4, 95% CI 9.88 to 13.2. CONCLUSION: Various psychiatric disorders were demonstrated after newly diagnosed epilepsy and closely related to general seizure and use of medical services for epilepsy. This shows a need for integrated psychiatric care for patients newly diagnosed with epilepsy, especially in the first year.

  8. Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

    Science.gov (United States)

    Sadleir, Lynette G; Paterson, Sarah; Smith, Katherine R; Redshaw, Natalie; Ranta, Annemarei; Kalnins, Renate; Berkovic, Samuel F; Bahlo, Melanie; Hildebrand, Michael S; Scheffer, Ingrid E

    2015-08-01

    To describe clinical and EEG phenotypes of a family with an unusual familial epilepsy syndrome characterized by myoclonus and dystonia. Family members underwent electroclinical phenotyping including review of EEGs and MRI. DNA from family members was genotyped using Illumina OmniExpress genotyping arrays. Parametric and nonparametric linkage analyses were performed using MERLIN. The disorder followed autosomal dominant (AD) inheritance and affected seven individuals over two generations. Seizures began at a mean of 14.5 years. Six individuals had spontaneous myoclonic seizures, of which five also had photic-induced myoclonus and four had photic-induced occipital seizures. Six individuals had convulsive seizures; generalized in two and focal in four. Photosensitivity was prominent with generalized spike wave and polyspike wave in four individuals of which two also had occipital spikes. MRI scans were normal in the four individuals tested. Extensive metabolic investigation was normal. Juvenile myoclonic epilepsy (JME) occurred in two; and JME overlapping with idiopathic photosensitive epilepsy (IPOE) in four individuals. All three affected males had a more severe disorder than the four affected females. Two males had a progressive neurological disorder with progressive myoclonus epilepsy and deterioration in their early 30s. They developed episodes of paroxysmal cervical dystonia with cognitive decline during periods of poor seizure control. One plateaued after years of poor seizure control but remained intractable with periods of deterioration. The other deteriorated with episodes of status dystonicus and status epilepticus, ataxia and a progressive ophthalmoplegia before succumbing at 38 years. Parametric linkage analysis identified three peaks achieving a maximum LOD score of 1.21. Nonparametric analysis identified eight peaks achieving LOD scores above 0.80. These were not statistically significant. This is a novel autosomal dominant familial epilepsy syndrome

  9. Genetics of epilepsy syndromes starting in the first year of life.

    Science.gov (United States)

    Deprez, Liesbet; Jansen, An; De Jonghe, Peter

    2009-01-20

    Incidence rates of epilepsy in children are highest during the first year of life. Most frequently, epilepsy results from a metabolic or structural defect in the brain. However, some infants have clearly delineated epilepsy syndromes for which no underlying etiology can be identified except for a genetic predisposition. We reviewed the current knowledge on the genetics of epilepsy syndromes starting in the first year of life. We focus on those epilepsy syndromes without a clear structural or metabolic etiology. Recent molecular studies have led to the identification of the responsible gene defects for several of the monogenetic epilepsy syndromes with onset in the first year of life. This knowledge has consequences for clinical practice as it opens new perspectives for genetic testing, improving early diagnosis, and facilitating genetic counseling. This overview of epilepsy syndromes and associated gene defects might serve as a basis for the selection of patients in whom genetic testing can be helpful.

  10. Mental deterioration in childhood epilepsy

    OpenAIRE

    Oka, Eiji; Sanada, Satoshi; Asano, Takashi; Ishida, Takashi

    1997-01-01

    Mental retardation is detected in 20-30% of children with epilepsy at hospitals specializing in treatment of childhood epilepsy. However, the incidence of mental deterioration in childhood epilepsy is not high. In this study, mental deterioration was found in 52 (1.8%) of the 2,880 children with epilepsy at Okayama University Hospital. The patients showing mental deterioration mostly suffered from specific epileptic syndromes, such as West syndrome, Lennox-Gastaut syndrome, severe myoclonic e...

  11. Parental and comorbid epilepsy in persons with bipolar disorder.

    Science.gov (United States)

    Sucksdorff, Dan; Brown, Alan S; Chudal, Roshan; Jokiranta-Olkoniemi, Elina; Leivonen, Susanna; Suominen, Auli; Heinimaa, Markus; Sourander, Andre

    2015-12-01

    Population-based studies have demonstrated an overrepresentation of bipolar disorder (BPD) in individuals with epilepsy. However, few studies have examined the reverse association, i.e. comorbid epilepsy in individuals selected based on BPD diagnosis. No previous population-based study having examined the co-occurrence of BPD and epilepsy has adjusted for parental psychopathology. Such an adjustment is motivated by population-based studies reporting an overrepresentation of various types of parental psychiatric disorders in both BPD and epilepsy. Furthermore, an association between epilepsy in first-degree relatives and BPD has previously only been examined and demonstrated in a small clinical sample. The objective of this study is to examine the associations between parental and comorbid epilepsy and BPD, adjusting for parental psychopathology. This nested case-control study identified 1861 cases with BPD, age up to 25 years, 3643 matched controls, and their parents from Finnish national registers. Conditional logistic regression was used to calculate odds ratios (ORs) with 95% confidence intervals (CIs) and two-sided significance limits of pepilepsy (adjusted OR 2.53, 95% CI: 1.73-3.70) but not with parental epilepsy. Epilepsy was found in 3.33% of cases versus 1.29% of controls, 2.69% of cases' parents versus 2.53% of controls' parents. The diagnoses were register-based, not based on standardized procedures with direct ascertainment. An association between BPD and comorbid epilepsy persists even after adjusting for parental psychopathology. Lack of familial clustering of BPD and epilepsy would suggest that the elevated co-occurrence of these disorders is influenced by non-genetic factors. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Quantitative analysis of structural neuroimaging of mesial temporal lobe epilepsy

    Science.gov (United States)

    Memarian, Negar; Thompson, Paul M; Engel, Jerome; Staba, Richard J

    2013-01-01

    Mesial temporal lobe epilepsy (MTLE) is the most common of the surgically remediable drug-resistant epilepsies. MRI is the primary diagnostic tool to detect anatomical abnormalities and, when combined with EEG, can more accurately identify an epileptogenic lesion, which is often hippocampal sclerosis in cases of MTLE. As structural imaging technology has advanced the surgical treatment of MTLE and other lesional epilepsies, so too have the analysis techniques that are used to measure different structural attributes of the brain. These techniques, which are reviewed here and have been used chiefly in basic research of epilepsy and in studies of MTLE, have identified different types and the extent of anatomical abnormalities that can extend beyond the affected hippocampus. These results suggest that structural imaging and sophisticated imaging analysis could provide important information to identify networks capable of generating spontaneous seizures and ultimately help guide surgical therapy that improves postsurgical seizure-freedom outcomes. PMID:24319498

  13. Patterns of depressive symptoms in epilepsy.

    Science.gov (United States)

    Triantafyllou, Nikolaos I; Gatzonis, Stergios; Kararizou, Evangelia; Papageorgiou, Charalampos C

    2013-04-01

    The purpose of this study was to determine the nature and extent of depressive symptoms among patients with epilepsy. Ninety patients were investigated over a three-month period: 42 were suffering from generalized epilepsy, 29 from focal epilepsy and 19 from undetermined epilepsy. All completed the Zung self-rating scale for assessment of the depressive symptoms. Sixty-seven patients felt stigmatized because of epilepsy (67%): 73.6% in the undetermined epilepsy group, 55.1% in the focal epilepsy group and 88% in the generalized epilepsy group. Moreover, among the 90 epileptic patients studied, symptoms of irritability, indecisiveness, personal devaluation and emptiness showed a constant increasing trend for their presence from the undetermined epilepsy group through the generalized epilepsy group to the focal epilepsy group. These findings indicate that although the focal epilepsy patients felt less stigmatized, they did not differ greatly in terms of depressive symptoms, in relation to the undetermined epilepsy and generalized epilepsy patients.

  14. 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

  15. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.

    Science.gov (United States)

    Thibert, Ronald L; Conant, Kerry D; Braun, Eileen K; Bruno, Patricia; Said, Rana R; Nespeca, Mark P; Thiele, Elizabeth A

    2009-11-01

    Angelman syndrome (AS) commonly presents with epilepsy (>80%). The goal of this study was to examine the natural history and various treatments of epilepsy in AS in a large population. A detailed electronic survey containing comprehensive questions regarding epilepsy in AS was conducted through the Angelman Syndrome Foundation. There were responses from 461 family members of individuals with AS, of whom 86% had epilepsy (60% with multiple seizure types), the most common being atonic, generalized tonic-clonic, absence, and complex partial. Partial-onset seizures only were reported in 11% of those with epilepsy. Epilepsy was most common among those with maternal deletions and unknown subtypes, with catastrophic epilepsies present in only these two subtypes. These epilepsies were refractory to medication, with only 15% responding to the first antiepileptic drug (AED). The most commonly prescribed AED were valproic acid and clonazepam, but lamotrigine and levetiracetam appeared to have similar efficacy and tolerability. This is the largest study to date assessing epilepsy in AS. Although epilepsy in AS is considered a generalized epilepsy, there was a high prevalence of partial seizures. There are few previous data regarding the use of newer AED in AS, and the results of this study suggest that these newer agents, specifically levetiracetam and lamotrigine, may have efficacy similar to that of valproic acid and clonazepam, and that they appear to have similar or better side-effect profiles. Nonpharmacologic therapies such as dietary therapy and vagus nerve stimulation (VNS) also suggest favorable efficacy and tolerability, although further studies are needed.

  16. Intravenous immunoglobulins for epilepsy.

    Science.gov (United States)

    Geng, JinSong; Dong, JianCheng; Li, Youping; Ni, Hengjian; Jiang, Kui; Shi, Li Li; Wang, GuoHua

    2017-07-04

    Epilepsy is a common neurological condition, with an estimated incidence of 50 per 100,000 persons. People with epilepsy may present with various types of immunological abnormalities, such as low serum immunoglobulin A (IgA) levels, lack of the immunoglobulin G (IgG) subclass and identification of certain types of antibodies. Intravenous immunoglobulin (IVIg) treatment may represent a valuable approach and its efficacy has important implications for epilepsy management. This is an updated version of the original Cochrane review published in Issue 1, 2011. To examine the effects of IVIg on the frequency and duration of seizures, quality of life and adverse effects when used as monotherapy or as add-on treatment for people with epilepsy. For the latest update, we searched the Cochrane Epilepsy Group Specialized Register (2 February 2017), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (2 February 2017), MEDLINE (Ovid, 1946 to 2 February 2017), Web of Science (1898 to 2 February 2017), ISRCTN registry (2 February 2017), WHO International Clinical Trials Registry Platform (ICTRP, 2 February 2017), the US National Institutes of Health ClinicalTrials.gov (2 February 2017), and reference lists of articles. Randomized or quasi-randomized controlled trials of IVIg as monotherapy or add-on treatment in people with epilepsy. Two review authors independently assessed the trials for inclusion and extracted data. We contacted study authors for additional information. Outcomes included percentage of people rendered seizure-free, 50% or greater reduction in seizure frequency, adverse effects, treatment withdrawal and quality of life. We included one study (61 participants). The included study was a randomized, double-blind, placebo-controlled, multi-centre trial which compared the treatment efficacy of IVIg as an add-on with a placebo add-on in patients with refractory epilepsy. There was no significant difference between

  17. EFFICACY OF ACTIVATION PROCEDURES TO ILLUSTRATE EEG CHANGES IN EPILEPSY

    Directory of Open Access Journals (Sweden)

    Rimpy Bhuyan

    2017-04-01

    Full Text Available BACKGROUND EEG or Electroencephalogram, which is the most important diagnostic procedure to evaluate Epilepsy patients, may sometimes fall short of accurate sensitivity and may require few Activation Procedures such as ‘Hyperventilation’ and ‘Sleep’ to bring out the active changes of an Epileptic brain. The present study was done with the aim of knowing the efficacy of such Activation Procedures like ‘Hyperventilation’ and ‘Sleep’ in illustrating the EEG wave pattern changes of an Epileptic brain during the interictal period. MATERIALS AND METHODS The present study was done in the Department of Physiology in association with the Department of Neurology, Assam Medical College & Hospital, Dibrugarh, Assam from June 2014 to May 2015. ‘113’ clinically diagnosed cases of Epilepsy were studied and analysed through Electroencephalogram using the internationally accepted 10-20 electrode placement method. Hyperventilation was used in 28 Epilepsy cases and Sleep was used in 14 Epilepsy cases. History & Physical examination findings were recorded in a Proforma. Chi-square analysis was done through GraphPad Prism 6 software to assess the significance of the activation procedures used. RESULTS Our study found that EEG of 42 cases out of the total 113 cases required Activation Procedures to elicit the wave pattern changes of the Epileptic brain. Hyperventilation was helpful in adult age group and sleep was useful in children age group. Hyperventilation had overall 53.57% sensitivity in detecting Epilepsy, and Sleep had 64.29% sensitivity in detecting Epilepsy. Hyperventilation was specifically helpful to elicit absence seizures where it had 75% sensitivity. CONCLUSION The sensitivity of EEG in detecting Epilepsy can thus be increased by using activation procedures like sleep & Hyperventilation to ensure that no epilepsy cases are missed out in diagnosis & treatment.

  18. 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.

  19. Epilepsy after head injury in dogs: a natural model of posttraumatic epilepsy.

    Science.gov (United States)

    Steinmetz, Sonja; Tipold, Andrea; Löscher, Wolfgang

    2013-04-01

    In humans, traumatic brain injury (TBI) is one of the most common causes of acquired (symptomatic) epilepsy, but as yet there is no treatment to prevent the development of epilepsy after TBI. Animal models of posttraumatic epilepsy (PTE) are important to characterize epileptogenic mechanisms of TBI and to identify clinically effective antiepileptogenic treatments. The prevalence and phenomenology of naturally occurring canine epilepsy are similar to those in human epilepsy. However, the risk of epilepsy after TBI has not been systemically studied in dogs. We therefore performed a large retrospective study in 1,000 dogs referred to our clinical department over a period of 11.5 years with the aim to determine the incidence of early and late seizures after head trauma in this species. Two strategies were used: in group I (n = 392), we evaluated whether dogs referred for the treatment of a head trauma (group Ia) or other trauma (group Ib) developed seizures after the trauma, whereas in group II (n = 608) we evaluated whether dogs referred for the treatment of recurrent epileptic seizures had a history of head trauma. Data for this study were obtained from our clinical database, questionnaires sent to the dogs' owners, and owner interviews. In group Ia, 6.6% of the dogs developed PTE, which was significantly different from group Ib (1.9%), indicating that head trauma increased the risk of developing epilepsy by a factor of 3.4. The risk of PTE increased with severity of TBI; 14.3% of the dogs with skull fracture developed PTE. In group II, 15.5% of the dogs with epilepsy had a history of head injury, which was significantly higher than the incidence of PTE determined for group Ia. Our study indicates that head trauma in dogs is associated with a significant risk of developing epilepsy. Therefore, dogs with severe TBI are an interesting natural model of PTE that provides a novel translational platform for studies on human PTE. Wiley Periodicals, Inc. © 2013

  20. 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

  1. Intelligence quotient is associated with epilepsy in children with intellectual disability in India

    Directory of Open Access Journals (Sweden)

    Ram Lakhan

    2013-01-01

    Full Text Available Background: Epilepsy is a disorder that is commonly found in people with intellectual disability (ID. The prevalence of epilepsy increases with the severity of ID. The objective of this study was to determine if there is an association between intelligence quotient (IQ and epilepsy in children with ID. Materials and Methods: A total of 262 children, aged 3-18 years, with ID were identified as part of a community-based rehabilitation project. These children were examined for epilepsy and diagnosed by a psychiatrist and physicians based on results of electroencephalogram tests. A Spearman′s correlation (ρ was used to determine if there was an association between IQ scores and the occurrence of epilepsy. X2 statistics used to examine the relationship of epilepsy with gender, socioeconomic status, population type, severity of ID, family history of mental illness, mental retardation, epilepsy, and coexisting disorder. Results: Spearman′s rho -0.605 demonstrates inverse association of IQ with epilepsy. X 2 demonstrates statistically significant association (P < 0.05 with gender, severity of ID, cerebral palsy, behavior problems, and family history of mental illness, mental retardation, and epilepsy. Conclusions: Lower IQ score in children with ID has association with occurrence of epilepsy. Epilepsy is also found highly associated with male gender and lower age.

  2. Intelligence quotient is associated with epilepsy in children with intellectual disability in India.

    Science.gov (United States)

    Lakhan, Ram

    2013-10-01

    Epilepsy is a disorder that is commonly found in people with intellectual disability (ID). The prevalence of epilepsy increases with the severity of ID. The objective of this study was to determine if there is an association between intelligence quotient (IQ) and epilepsy in children with ID. A total of 262 children, aged 3-18 years, with ID were identified as part of a community-based rehabilitation project. These children were examined for epilepsy and diagnosed by a psychiatrist and physicians based on results of electroencephalogram tests. A Spearman's correlation (ρ) was used to determine if there was an association between IQ scores and the occurrence of epilepsy. X(2) statistics used to examine the relationship of epilepsy with gender, socioeconomic status, population type, severity of ID, family history of mental illness, mental retardation, epilepsy, and coexisting disorder. Spearman's rho -0.605 demonstrates inverse association of IQ with epilepsy. X(2) demonstrates statistically significant association (P < 0.05) with gender, severity of ID, cerebral palsy, behavior problems, and family history of mental illness, mental retardation, and epilepsy. Lower IQ score in children with ID has association with occurrence of epilepsy. Epilepsy is also found highly associated with male gender and lower age.

  3. Epilepsy in dogs five years of age and older: 99 cases (2006-2011).

    Science.gov (United States)

    Ghormley, Tara M; Feldman, David G; Cook, James R

    2015-02-15

    To classify the etiology of epilepsy and evaluate use of abnormal neurologic examination findings to predict secondary epilepsy in dogs ≥ 5 years of age. Retrospective case series. 99 dogs with epilepsy. Medical records were reviewed to identify client-owned dogs evaluated for seizures at ≥ 5 years of age with a diagnosis of primary or secondary epilepsy. Dogs were stratified by age; prevalence of primary and secondary epilepsy and the proportion of dogs with secondary epilepsy that had a diagnosis of neoplasia (on the basis of MRI findings) versus other disease were evaluated. Sensitivity and specificity of abnormal neurologic findings to detect secondary epilepsy were determined. 7 of 30 (23%) dogs 5 to 7 years of age, 13 of 29 (45%) dogs 8 to 10 years of age, 13 of 33 (39%) dogs 11 to 13 years of age, and 2 of 7 dogs ≥ 14 years of age had primary epilepsy. Prevalence of primary vs secondary epilepsy did not differ among age groups. The proportion of dogs with neoplasia at 5 to 7 years of age was lower than that of dogs in other age groups. Abnormal neurologic examination results had 74% sensitivity and 62% specificity to predict secondary epilepsy. A substantial proportion of dogs ≥ 5 years of age had primary epilepsy. Results indicated that lack of abnormalities on neurologic examination does not exclude the possibility of intracranial lesions, and MRI with CSF analysis (when applicable) should be recommended for all dogs with onset of seizures at ≥ 5 years of age.

  4. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    DEFF Research Database (Denmark)

    Møller, Rikke S; Larsen, Line H G; Johannesen, Katrine M

    2016-01-01

    of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures...... to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease...

  5. Knowledge, attitude and practice towards epilepsy among secondary school students in Enugu, southeast Nigeria.

    Science.gov (United States)

    Ezeala-Adikaibe, B A; Achor, J U; Onwukwe, Jojo; Ekenze, O S; Onwuekwe, I O; Chukwu, O; Onyia, H; Ihekwaba, M; Obu, C

    2013-05-01

    The purpose of this study was to determine the knowledge and attitude of secondary school students to epilepsy and its treatment that could pose as barriers in the treatment and care of epilepsy patients within the community. This study was cross-sectional and descriptive in design using a self administered custom designed multiple choice questionnaire with sections on general information on epilepsy, awareness and perception of epilepsy, treatment of epilepsy/seizures and attitude towards people living with epilepsy. Out of 969 questionnaires analyzed, the majority of the students (87.6%) had heard of epilepsy as a disease. The commonest sources of information were the electronic media (36.4%) and family members (25.6%). More than half (59.4%) had witnessed a convulsion in the past and 8.9% had a family member with epilepsy. Jerking (50.6%) and loss of consciousness (47.4%) were identified as the commonest manifestations of epilepsy. Epilepsy was considered a psychiatric disorder by 51.9% and as an infectious disease by 40.6%. About 39.3% considered epilepsy to be due to spiritual causes, old age or poisoning/bad blood. A total of 63.1% regarded orthodox medicine and prayers as the best means to treat epilepsy, while 6.8% chose herbal remedies. Concerning first aid treatment, 50.6% agreed that an object should be inserted into the mouth, while 49.5% would call for medical help and 28.8% would remove the person from harm. On attitude, 64.9% would not keep a friend with epilepsy, 69.1% would not play with someone with epilepsy, 84.2% would not marry someone with epilepsy. 41.1% of the students said that people with epilepsy should neither marry while 42.2% say they should not have children. Only 39.1.5% had an overall positive attitude towards people living with epilepsy. There is a persisting poor knowledge, attitude and practice of epilepsy among secondary school students in SE Nigeria. Efforts should be made to include basic facts about disorders with social

  6. 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.

  7. The Epilepsy Foundation's 4th Biennial Epilepsy Pipeline Update Conference.

    Science.gov (United States)

    French, Jacqueline A; Schachter, Steven C; Sirven, Joseph; Porter, Roger

    2015-05-01

    On June 5 and 6, 2014, the Epilepsy Foundation held its 4th Biennial Epilepsy Pipeline Update Conference, an initiative of the Epilepsy Therapy Project, which showcased the most promising epilepsy innovations from health-care companies and academic laboratories dedicated to pioneering and advancing drugs, biologics, technologies, devices, and diagnostics for epilepsy. Speakers and attendees included emerging biotech and medical technology companies, major pharmaceutical and device companies, as well as investigators and innovators at the cutting-edge of epilepsy. The program included panel discussions on collaboration between small and large companies, how to get products in need of funding to the marketplace, who is currently funding epilepsy and CNS innovation, and how the NIH facilitates early-stage drug development. Finally, the conference featured the third annual "Shark Tank" competition. The presentations are summarized in this paper, which is followed by a compilation of the meeting poster abstracts. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Presentation of adult mitochondrial epilepsy.

    Science.gov (United States)

    Finsterer, Josef; Mahjoub, Sinda Zarrouk

    2013-03-01

    Mitochondrial disorders (MIDs) frequently manifest phenotypically as epilepsy (mitochondrial epilepsy). Mitochondrial epilepsy occurs in early-onset as well as late-onset syndromic and non-syndromic MIDs. We were interested in the types of epilepsy, the prevalence of mitochondrial epilepsy, the type and effectiveness of treatment, and in the outcome of adult MID patients with epilepsy. We retrospectively evaluated adult patients with syndromic or non-syndromic MIDs and epilepsy. MIDs were classified according to the modified Walker criteria as definite, probable, and possible. Epilepsy in adult patients with a MID was classified as "structural/metabolic" in two-thirds of the cases and as "genetic" in one-third of the cases. Although all types of seizures may occur in mitochondrial epilepsy, adult patients most frequently presented with generalised tonic-clonic seizures, partial seizures, convulsive status epilepticus, or non-convulsive status epilepticus. Cerebral imaging was normal in one-third of the patients. Two-thirds of the adult patients with mitochondrial epilepsy who took antiepileptic drugs received monotherapy, one-third combination treatment. The antiepileptic drugs most frequently administered included levetiracetam, lamotrigine, valproic acid, and gabapentin. Antiepileptic drugs were usually well tolerated and the outcome favourable. Adult mitochondrial epilepsy appears to be less frequent than previously believed but the prevalence strongly depends on patient selection. Mitochondrial epilepsy is most frequently "structural/metabolic". AEDs recommended for mitochondrial epilepsy include levetiracetam, lamotrigine, gabapentin and lacosamide. The outcome of mitochondrial epilepsy may be more favourable if mitochondrion-toxic AEDs are avoided. Only if non-mitochondrion-toxic AEDs are ineffective, mitochondrion-toxic AEDs may be used. Copyright © 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  9. Control of Absence Seizures by the Thalamic Feed-Forward Inhibition.

    Science.gov (United States)

    Chen, Mingming; Guo, Daqing; Xia, Yang; Yao, Dezhong

    2017-01-01

    As a subtype of idiopathic generalized epilepsies, absence epilepsy is believed to be caused by pathological interactions within the corticothalamic (CT) system. Using a biophysical mean-field model of the CT system, we demonstrate here that the feed-forward inhibition (FFI) in thalamus, i.e., the pathway from the cerebral cortex (Ctx) to the thalamic reticular nucleus (TRN) and then to the specific relay nuclei (SRN) of thalamus that are also directly driven by the Ctx, may participate in controlling absence seizures. In particular, we show that increasing the excitatory Ctx-TRN coupling strength can significantly suppress typical electrical activities during absence seizures. Further, investigation demonstrates that the GABAA- and GABAB-mediated inhibitions in the TRN-SRN pathway perform combination roles in the regulation of absence seizures. Overall, these results may provide an insightful mechanistic understanding of how the thalamic FFI serves as an intrinsic regulator contributing to the control of absence seizures.

  10. 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

  11. Neocortical Temporal Lobe Epilepsy

    Science.gov (United States)

    Bercovici, Eduard; Kumar, Balagobal Santosh; Mirsattari, Seyed M.

    2012-01-01

    Complex partial seizures (CPSs) can present with various semiologies, while mesial temporal lobe epilepsy (mTLE) is a well-recognized cause of CPS, neocortical temporal lobe epilepsy (nTLE) albeit being less common is increasingly recognized as separate disease entity. Differentiating the two remains a challenge for epileptologists as many symptoms overlap due to reciprocal connections between the neocortical and the mesial temporal regions. Various studies have attempted to correctly localize the seizure focus in nTLE as patients with this disorder may benefit from surgery. While earlier work predicted poor outcomes in this population, recent work challenges those ideas yielding good outcomes in part due to better localization using improved anatomical and functional techniques. This paper provides a comprehensive review of the diagnostic workup, particularly the application of recent advances in electroencephalography and functional brain imaging, in neocortical temporal lobe epilepsy. PMID:22953057

  12. 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 (Pclusters than patients with focal epilepsy (16.3%) and IGE (7.4%; all Pclustering 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.

  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. Coping and sickness absence

    NARCIS (Netherlands)

    Rhenen, W. van; Schaufeli, W.B.; Dijk, F.J.H. van; Blonk, R.W.B.

    2008-01-01

    Objectives: The aim of this study is to examine the role of coping styles in sickness absence. In line with findings that contrast the reactive-passive focused strategies, problem-solving strategies are generally associated with positive results in terms of well-being and overall health outcomes;

  15. Coping and sickness absence

    NARCIS (Netherlands)

    van Rhenen, Willem; Schaufeli, Wilmar B.; van Dijk, Frank J. H.; Blonk, Roland W. B.

    2008-01-01

    OBJECTIVES: The aim of this study is to examine the role of coping styles in sickness absence. In line with findings that contrast the reactive-passive focused strategies, problem-solving strategies are generally associated with positive results in terms of well-being and overall health outcomes;

  16. Seizure disorders and epilepsy.

    Science.gov (United States)

    Ozuna, J

    2000-01-01

    Seizures are uncontrolled hypersynchronous electrical discharges of neurons in the brain that interfere with normal function. They are a symptom of an underlying disorder. Epilepsy is a condition of recurring seizures that do not have a reversible metabolic cause. Seizures can be confused with a variety of other conditions, so an understanding of seizure manifestations is crucial in making an accurate diagnosis. Drug therapy is the mainstay of epilepsy treatment, but surgery and vagal nerve stimulation are options for selected refractory cases. Psychosocial consequences of recurring seizures are often more significant to patients than the seizures themselves.

  17. Canine epilepsy: an underutilized model.

    Science.gov (United States)

    Patterson, Edward E

    2014-01-01

    The mainstay of comparative research for epilepsy has been rodent models of induced epilepsy. This rodent basic science is essential, but it does not always translate to similar results in people, likely because induced epilepsy is not always similar enough to naturally occurring epilepsy. A good large animal, intermediate model would be very helpful to potentially bridge this translational gap. Epilepsy is the most common medical neurologic disease of dogs. It has been proposed since the 1970s that dogs with naturally occurring epilepsy could potentially be used as a comparative model for people of the underlying basis and therapy of epilepsy. There have been sporadic studies in the decades since then, with a relative surge in the last 10 years. These canine studies in the areas of genetics, drug therapy, dietary therapy, electroencelphalogram research, and devices for epilepsy show proof of concept that canine epilepsy can be a very good model for comparative research for many, but not all, facets of epilepsy. Results of research in canine epilepsy can and have benefited the improvement of treatment for both people and dogs. © The Author 2014. Published by Oxford University Press on behalf of the Institute for Laboratory Animal Research. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  18. The direct cost of epilepsy in the United States: A systematic review of estimates.

    Science.gov (United States)

    Begley, Charles E; Durgin, Tracy L

    2015-09-01

    To develop estimates of the direct cost of epilepsy in the United States for the general epilepsy population and sub-populations by systematically comparing similarities and differences in types of estimates and estimation methods from recently published studies. Papers published since 1995 were identified by systematic literature search. Information on types of estimates, study designs, data sources, types of epilepsy, and estimation methods was extracted from each study. Annual per person cost estimates from methodologically similar studies were identified, converted to 2013 U.S. dollars, and compared. From 4,104 publications discovered in the literature search, 21 were selected for review. Three were added that were published after the search. Eighteen were identified that reported estimates of average annual direct costs for the general epilepsy population in the United States. For general epilepsy populations (comprising all clinically defined subgroups), total direct healthcare costs per person ranged from $10,192 to $47,862 and epilepsy-specific costs ranged from $1,022 to $19,749. Four recent studies using claims data from large general populations yielded relatively similar epilepsy-specific annual cost estimates ranging from $8,412 to $11,354. Although more difficult to compare, studies examining direct cost differences for epilepsy sub-populations indicated a consistent pattern of markedly higher costs for those with uncontrolled or refractory epilepsy, and for those with comorbidities. This systematic review found that various approaches have been used to estimate the direct costs of epilepsy in the United States. However, recent studies using large claims databases and similar methods allow estimation of the direct cost burden of epilepsy for the general disease population, and show that it is greater for some patient subgroups. Additional research is needed to further understand the broader economic burden of epilepsy and how it varies across

  19. Medicinal plants used in Iranian traditional medicine to treat epilepsy.

    Science.gov (United States)

    Sahranavard, Shamim; Ghafari, Saeedeh; Mosaddegh, Mahmoud

    2014-05-01

    Antiepileptic drugs used to treat epilepsy can cause severe, life threatening side effects. In Iranian traditional medicine, herbal remedies have been used for centuries to treat seizures. In this study, the five most important herbals in Iranian traditional medicine, namely Canon, al-Hawi, al-Abniah 'an Haqaeq al Adwia, Tuhfat al-Mu'minin, and Makhzan ul-Adwia, were searched for the term "sar-e", which means epilepsy, to identify the herbs used for treatment in ancient times. We also searched scientific literature for pharmacological evidence of their effectiveness. Twenty-five plants were identified as herbal remedies to treat epilepsy. Pharmacological data related to the antiepileptic activity of eleven of these plants exists. A large number of these plants which have not been investigated pharmacologically for antiepileptic activity would be good candidates for study in exploring new herbal anticonvulsant remedies. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  20. 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

  1. Familial risks for epilepsy among siblings based on hospitalizations in Sweden.

    Science.gov (United States)

    Hemminki, Kari; Li, Xinjun; Johansson, Sven-Erik; Sundquist, Kristina; Sundquist, Jan

    2006-01-01

    Epilepsy is a common disabling condition, with high heritability according to twin studies. Characterization of familial risks for common subtypes of epilepsy will advance the search for the heritable causes of these conditions and their underlying mechanisms. We aim at defining familial risks for siblings to be hospitalized because of epilepsy. A nationwide ad hoc epilepsy database was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register for data on epilepsies covering the years 1987-2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing them to those whose siblings had no epilepsy. Among a total of 26,799 hospitalized cases, 598 affected siblings were identified with a familial SIR of 2.35; the SIR was highest at ages 0-4 years (6.82). Infantile spasms showed the highest risk for any subtype (10.45), when a co-sibling was diagnosed with any epilepsy. When both siblings were diagnosed with a concordant (same) subtype of epilepsy, the SIRs were high, i.e. 8.43 for generalized idiopathic epilepsy, 2.56 for partial epilepsy, 24.72 for status epilepticus and 24.39 for other epilepsies. Generalized idiopathic epilepsy was also associated with grand mal (4.06) and other epilepsies (7.61). The numbers of cases were small but concordant diagnoses always showing higher SIRs compared with discordant diagnoses. Within the limits of the present sample size, our results suggest high familial aggregation for certain subtypes of epilepsy for which distinct genetic mechanisms may underlie.

  2. Comparison of monocyte gene expression among patients with neurocysticercosis-associated epilepsy, Idiopathic Epilepsy and idiopathic headaches in India.

    Science.gov (United States)

    Prabhakaran, Vasudevan; Drevets, Douglas A; Ramajayam, Govindan; Manoj, Josephine J; Anderson, Michael P; Hanas, Jay S; Rajshekhar, Vedantam; Oommen, Anna; Carabin, Hélène

    2017-06-01

    Neurocysticercosis (NCC), a neglected tropical disease, inflicts substantial health and economic costs on people living in endemic areas such as India. Nevertheless, accurate diagnosis using brain imaging remains poorly accessible and too costly in endemic countries. The goal of this study was to test if blood monocyte gene expression could distinguish patients with NCC-associated epilepsy, from NCC-negative imaging lesion-free patients presenting with idiopathic epilepsy or idiopathic headaches. Patients aged 18 to 51 were recruited from the Department of Neurological Sciences, Christian Medical College and Hospital, Vellore, India, between January 2013 and October 2014. mRNA from CD14+ blood monocytes was isolated from 76 patients with NCC, 10 Recovered NCC (RNCC), 29 idiopathic epilepsy and 17 idiopathic headaches patients. A preliminary microarray analysis was performed on six NCC, six idiopathic epilepsy and four idiopathic headaches patients to identify genes differentially expressed in NCC-associated epilepsy compared with other groups. This analysis identified 1411 upregulated and 733 downregulated genes in patients with NCC compared to Idiopathic Epilepsy. Fifteen genes up-regulated in NCC patients compared with other groups were selected based on possible relevance to NCC, and analyzed by qPCR in all patients' samples. Differential gene expression among patients was assessed using linear regression models. qPCR analysis of 15 selected genes showed generally higher gene expression among NCC patients, followed by RNCC, idiopathic headaches and Idiopathic Epilepsy. Gene expression was also generally higher among NCC patients with single cyst granulomas, followed by mixed lesions and single calcifications. Expression of certain genes in blood monocytes can distinguish patients with NCC-related epilepsy from patients with active Idiopathic Epilepsy and idiopathic headaches. These findings are significant because they may lead to the development of new tools to

  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

    OpenAIRE

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

    2013-01-01

    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 behavior problem scores on 177 children with epilepsy, aged 5–16 y...

  5. Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP).

    Science.gov (United States)

    Friedman, Daniel; Fahlstrom, Robyn

    2013-12-01

    Little is known about the ethnic and racial differences in the prevalence of generalized and focal epilepsy among patients with non-acquired epilepsies. In this study, we examined epilepsy classification and race/ethnicity in 813 probands from sibling or parent-child pairs with epilepsy enrolled in the Epilepsy Genome/Phenome Project (EPGP). Subjects were classified as generalized epilepsy (GE), non-acquired focal epilepsy (NAFE), mixed epilepsy syndrome (both generalized and focal), and unclassifiable, based on consensus review of semiology and available clinical, electrophysiology, and neuroimaging data. In this cohort, 628 (77.2%) subjects identified exclusively as Caucasian/white and 65 (8.0%) subjects reported African ancestry, including subjects of mixed-race. Of the Caucasian/white subjects, 357 (56.8%) had GE, 207 (33.0%) had NAFE, 32 (5.1%) had a mixed syndrome, and 32 (5.1%) were unclassifiable. Among subjects of African ancestry, 28 (43.1%) had GE, 27 (41.5%) had NAFE, 2 (3.1%) had a mixed syndrome, and 8 (12.3%) were unclassifiable. There was a higher proportion of subjects with GE compared to other syndromes among Caucasians/whites compared to subjects with African ancestry (OR 1.74, 95% CI: 1.04-2.92, two-tailed Fisher's exact test, p=0.036). There was no difference in the rate of GE among subjects reporting Hispanic ethnicity (7.6% of total) when adjusted for race (Caucasian/white vs non-Caucasian/white; OR 0.65, 95% CI: 0.40-1.06, p>0.05). The proportion of participants with unclassifiable epilepsy was significantly greater in those of African-American descent. In a group of patients with epilepsy of unknown etiology and an affected first degree relative, GE is more common among Caucasian/white subjects than among those with African ancestry. These findings suggest there may be geographical differences in the distribution of epilepsy susceptibility genes and an effect of genetic background on epilepsy phenotype. However, the results should be

  6. Neuroimaging evaluation in refractory epilepsy.

    Science.gov (United States)

    Granados, Ana M; Orejuela, Juan F; Rodriguez-Takeuchi, Sara Y

    2015-10-01

    To describe the application of neuroimaging analysis, compared to neuropsychological tests and video-electroencephalogram, for the evaluation of refractory epilepsy in a reference centre in Cali, Colombia. Between March 2013 and November 2014, 29 patients, 19 men and 10 women, aged 9-65 years and with refractory epilepsy, were assessed by structural and functional magnetic resonance imaging while performing tasks related to language, verbal and non-verbal memory. Also, volumetric evaluation was performed. A 1.5 Tesla magnetic resonance imaging scanner was used in all cases. Neuroimaging evaluation identified 13 patients with mesial temporal sclerosis. The remaining patients were classified as: 10 patients with neoplastic masses, two patients with cortical atrophy, two patients with scarring lesions and two patients with non-structural aetiology. Among patients with mesial temporal sclerosis, comparison between techniques for lateralising the epileptogenic foci was made; the κ index between functional magnetic resonance imaging and hippocampi volumetry was κ=1.00, agreement between neuroimaging and video-electroencephalogram was good (κ=0.78) and comparison with a neuropsychological test was mild (κ=0.24). Neuroimaging studies allow the assessment of functional and structural damage related to epileptogenic lesions and foci, and are helpful to select surgical treatment, conduct intraoperative neuronavigation techniques, predict surgical deficits and evaluate patient recovery. © The Author(s) 2015.

  7. 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...

  8. Drug-resistant focal sleep related epilepsy: results and predictors of surgical outcome.

    Science.gov (United States)

    Losurdo, Anna; Proserpio, Paola; Cardinale, Francesco; Gozzo, Francesca; Tassi, Laura; Mai, Roberto; Francione, Stefano; Castana, Laura; Lo Russo, Giorgio; Casaceli, Giuseppe; Sartori, Ivana; Della Marca, Giacomo; Cossu, Massimo; Nobili, Lino

    2014-07-01

    In this study we report the results of surgery in a large population of patients affected by drug-resistant focal sleep related epilepsy (SRE) and the identified prognostic factors. We conducted a retrospective analysis of a case series of 955 patients operated on for drug-resistant focal epilepsy from 1997 to 2009. Ninety-five patients with focal SRE and a follow-up of at least 2 years were identified. Presurgical, surgical and histopathological variables were analyzed. Risk of seizures recurrence was assessed by univariate and multivariate analysis. Mean age at epilepsy onset was 5.6 ± 4.9 years. MRI revealed a focal abnormality in 78.9% of cases. Sixty-two percent of patients required a Stereo-EEG investigation. The cortical resection involved the frontal lobe in 61.1% of cases, while in 38.9% an extrafrontal resection was performed. Focal cortical dysplasia (FCD) type II was the most frequent histopathological finding. Mean postoperative follow-up was 82.3 months. Seventy-three patients (76.8%) were in Engel's class I. At univariate analysis, variables associated with a favorable outcome were: absence of Stereo-EEG investigation; positive MRI; complete removal of the epileptogenic zone (EZ); presence of FCD type II and FCD type IIb. A diagnosis of FCD type I was associated with postoperative recurrence of seizures. Multivariate analysis identified the complete removal of the EZ and FCD type I as independent predictors of a favorable and unfavorable outcome respectively. SRE can frequently originate outside the frontal lobe and a favorable surgical outcome is achieved in three-fourths of cases independently from the location of the EZ. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Mohamed, A.; Lueders, H.O. [Cleveland Clinic Foundation, OH (United States)

    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)

  11. Epilepsy and Spinocerebellar Ataxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-07-01

    Full Text Available A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch, France; Division of Pediatric Neurology, King Saud University, Riyadh, Saudi Arabia; and other centers.

  12. Mobile EEG in epilepsy

    NARCIS (Netherlands)

    Askamp, Jessica; van Putten, Michel Johannes Antonius Maria

    2014-01-01

    The sensitivity of routine EEG recordings for interictal epileptiform discharges in epilepsy is limited. In some patients, inpatient video-EEG may be performed to increase the likelihood of finding abnormalities. Although many agree that home EEG recordings may provide a cost-effective alternative

  13. Epilepsy in the Elderly

    Directory of Open Access Journals (Sweden)

    Lu-An Chen

    2012-06-01

    Full Text Available Elderly people are the largest and continuously fastest growing population among patients with epilepsy. Elderly patients with epilepsy are very different from other age groups in many respects and clinicians shouldn’t treat them in the same way as younger adults. Accurate diagnosis of epilepsy in the elderly is much more difficult and atypical manifestations and misdiagnoses are certainly not the exception. Syncope is probably the most important differential diagnosis. High clinical suspicion and proper investigation are the best tools for prompt diagnosis. Etiologies of late-onset epilepsy are mainly symptomatic and cerebrovascular diseases are the most common causes in this age group, followed by degenerative diseases such as Alzheimer’s disease. It is appropriate to consider starting antiepileptic drug (AED treatment at the first-ever seizure in elderly patients who have remote symptomatic causes such as stroke and dementia. According to the high recurrence rate of seizure and the good response to AEDs in elderly patients, the proper choice from various AEDs for seizure control is very important. Decision-making for AED choice depends on many different factors, including pharmacological properties, efficacy, tolerability from side effects, drug interactions, and medical comorbidities. The newer AEDs with lesser adverse effects and fewer drug interactions appear to be reasonable treatment options for elderly patients. However, more evidence from clinical trials in this specific age group is warranted.

  14. Angelman Syndrome and Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-02-01

    Full Text Available Twenty-six patients with Angelman syndrome (AS, of which 19 had 15ql 1-13 maternal deletion, were studied and followed at the University of San Paulo, Brazil, with particular reference to the prevalence and type of epilepsy and its response to antiepileptic drugs.

  15. Vigabatrin in childhood epilepsy

    DEFF Research Database (Denmark)

    Uldall, P; Alving, J; Gram, L

    1995-01-01

    In an retrospective uncontrolled long-term study in 30 children with intractable epilepsy, it was found that treatment with vigabatrin resulted in a seizure reduction of more than 50% at 1-year follow-up in 40% of the children. The responders were all children with partial seizures. Side effects...

  16. Epilepsy and brain tumors

    Science.gov (United States)

    ENGLOT, DARIO J.; CHANG, EDWARD F.; VECHT, CHARLES J.

    2016-01-01

    Seizures are common in patients with brain tumors, and epilepsy can significantly impact patient quality of life. Therefore, a thorough understanding of rates and predictors of seizures, and the likelihood of seizure freedom after resection, is critical in the treatment of brain tumors. Among all tumor types, seizures are most common with glioneuronal tumors (70–80%), particularly in patients with frontotemporal or insular lesions. Seizures are also common in individuals with glioma, with the highest rates of epilepsy (60–75%) observed in patients with low-grade gliomas located in superficial cortical or insular regions. Approximately 20–50% of patients with meningioma and 20–35% of those with brain metastases also suffer from seizures. After tumor resection, approximately 60–90% are rendered seizure-free, with most favorable seizure outcomes seen in individuals with glioneuronal tumors. Gross total resection, earlier surgical therapy, and a lack of generalized seizures are common predictors of a favorable seizure outcome. With regard to anticonvulsant medication selection, evidence-based guidelines for the treatment of focal epilepsy should be followed, and individual patient factors should also be considered, including patient age, sex, organ dysfunction, comorbidity, or cotherapy. As concomitant chemotherapy commonly forms an essential part of glioma treatment, enzyme-inducing anticonvulsants should be avoided when possible. Seizure freedom is the ultimate goal in the treatment of brain tumor patients with epilepsy, given the adverse effects of seizures on quality of life. PMID:26948360

  17. Vigabatrin in childhood epilepsy

    DEFF Research Database (Denmark)

    Uldall, P; Alving, J; Gram, L

    1995-01-01

    In an retrospective uncontrolled long-term study in 30 children with intractable epilepsy, it was found that treatment with vigabatrin resulted in a seizure reduction of more than 50% at 1-year follow-up in 40% of the children. The responders were all children with partial seizures. Side effects ...

  18. An approach to epilepsy

    African Journals Online (AJOL)

    The key to understanding and managing epilepsy is to decide whether seizures are genetic/idiopathic or caused by focal brain pathology. ..... Generalised 3 Hz spike and wave. Focal. EEG = electroencephalogram. Table 3. Differences between Generalised Tonic-Clonic and Focal-onset Seizures evolving to Generalised ...

  19. Genetic Aspects of Epilepsy

    African Journals Online (AJOL)

    Schizophrenia and manic-depressive psychosis, also based upon single gene mechanisms, may similarly, in principle, be counter- acted by drugs specifically directed against the genetically determined enzyme ... work in the sphere of epilepsy has not resulted in the .... in line with the thesis of single dominance of Lennox.

  20. Yoga and epilepsy: What do patients perceive?

    Science.gov (United States)

    Naveen, G H; Sinha, S; Girish, N; Taly, A B; Varambally, S; Gangadhar, B N

    2013-07-01

    Benefit of yoga therapy in the management of epilepsy is emerging. However, there is no data available about the knowledge, attitude and practice (KAP) of yoga amongst people living with epilepsy (PLWE). This study was designed to explore the KAP about yoga among PLWE. The study was conducted on 300 PLWE attending the neurology out-patient services of a tertiary care hospital. Three hundred PLWE (male:female=173:127; age: 31.6±12.4 years) attending the neurology out-patient services of a neuropsychiatry hospital were administered a pre-tested KAP questionnaire. About 87.4% were on regular anti-epileptic drugs and half (50.3%) on monotherapy. Use of complementary and alternative medicine by the respondents included: Ayurveda (26.7%), yoga (25.6%) and homeopathy (16.3%) or folk medicine (29.1%). Nearly 33.7% of the respondents reported that yoga is beneficial in managing epilepsy. More than half the respondents (54.8%) were willing to practice yoga. Those who practiced yoga opined that regular practice of yoga might reduce dosage of medication (62.8%), their side effects (51.3%) and frequency of seizures (54.5%). Majority of the patients were willing to practice yoga, if yoga services were offered. The gaps in KAP identified in this study point to the need for more systematic effort to bring about awareness of yoga in patients with epilepsy.

  1. Genetic and epigenetic mechanisms of epilepsy: a review

    Science.gov (United States)

    Chen, Tian; Giri, Mohan; Xia, Zhenyi; Subedi, Yadu Nanda; Li, Yan

    2017-01-01

    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 summary of recent linkage and association findings, indicating the existence of novel genes on several chromosomes for further understanding of the biology of epilepsy. PMID:28761347

  2. Sudden unexpected death in epilepsy: Incidence at a Spanish epilepsy unit.

    Science.gov (United States)

    Chamorro-Muñoz, M I; López-Hidalgo, E; García-Martín, G; Rodríguez-Belli, A O; Gutiérrez-Bedmar, M

    2017-12-13

    Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with epilepsy. Most studies concerning this issue have been conducted in central and northern European countries and the United States. We conducted an epidemiologic study of SUDEP at our hospital's epilepsy unit. This retrospective cohort study included all epileptic patients aged ≥14 years, regardless of epilepsy severity, who were treated at the outpatient epilepsy unit of our hospital between 2000 and 2013. The study included 2,309 patients. Deceased patients were identified using civil records. The cause of death was obtained from death certificates, autopsy reports, hospital reports, general practitioner records, and witnesses of the event. We calculated the incidence and proportional mortality of SUDEP based on our data. We identified 7 cases of definite SUDEP (2 patients with SUDEP plus), one case of probable SUDEP, and one case of possible SUDEP. Considering only cases of definite SUDEP, incidence was estimated at 0.44 cases per 1,000 patient-years and proportional mortality at 4.6%. Mean age of patients with definite SUDEP was 38.14 years; 4 were men and 3 were women. Most deaths occurred while patients were in bed and were therefore unwitnessed. Epilepsy in these patients was either remote symptomatic or cryptogenic. All patients but one had generalised seizures. None of the patients was in remission. SUDEP incidence and proportional mortality rates in our study are similar to those reported by population studies. This may be due to the fact that we did not select patients by severity. Risk factors for SUDEP in our sample are therefore consistent with those reported in the literature. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  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. 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.

  5. Adenosine dysfunction in epilepsy

    Science.gov (United States)

    Boison, Detlev

    2011-01-01

    Extracellular levels of the brain’s endogenous anticonvulsant and neuroprotectant adenosine largely depend on an astrocyte-based adenosine cycle, comprised of ATP release, rapid degradation of ATP into adenosine, and metabolic reuptake of adenosine through equilibrative nucleoside transporters and phosphorylation by adenosine kinase (ADK). Changes in ADK expression and activity therefore rapidly translate into changes of extracellular adenosine, which exerts its potent anticonvulsive and neuroprotective effects by activation of pre- and postsynaptic adenosine A1 receptors. Increases in ADK increase neuronal excitability, whereas decreases in ADK render the brain resistant to seizures and injury. Importantly, ADK was found to be overexpressed and associated with astrogliosis and spontaneous seizures in rodent models of epilepsy, as well as in human specimen resected from patients with hippocampal sclerosis and temporal lobe epilepsy. Several lines of evidence indicate that overexpression of astroglial ADK and adenosine deficiency are pathological hallmarks of the epileptic brain. Consequently, adenosine augmentation therapies constitute a powerful approach for seizure prevention, which is effective in models of epilepsy that are resistant to conventional antiepileptic drugs. The adenosine kinase hypothesis of epileptogenesis suggests that adenosine dysfunction in epilepsy undergoes a biphasic response: An acute surge of adenosine that can be triggered by any type of injury might contribute to the development of astrogliosis via adenosine receptor –dependent and –independent mechanisms. Astrogliosis in turn is associated with overexpression of ADK, which was shown to be sufficient to trigger spontaneous recurrent electrographic seizures. Thus, ADK emerges as a promising target for the prediction and prevention of epilepsy. PMID:22700220

  6. 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.

  7. Therapeutic effects of cannabinoids in animal models of seizures, epilepsy, epileptogenesis, and epilepsy-related neuroprotection.

    Science.gov (United States)

    Rosenberg, Evan C; Patra, Pabitra H; Whalley, Benjamin J

    2017-05-01

    cannabinoids, most notably cannabidiol (CBD) and cannabidavarin (CBDV), in models of seizures, epilepsy, epileptogenesis, and neuroprotection are less ambiguous, and consistent with reports of therapeutically beneficial effects of these compounds in clinical studies. However, continued paucity of firm information regarding the therapeutic molecular mechanism of CBD/CBDV highlights the continued need for research in this area in order to identify as yet under-exploited targets for drug development and raise our understanding of treatment-resistant epilepsies. The recent reporting of positive results for cannabidiol treatment in two Phase III clinical trials in treatment-resistant epilepsies provides pivotal evidence of clinical efficacy for one plant cannabinoid in epilepsy. Moreover, risks and/or benefits associated with the use of unlicensed Δ 9 -THC containing marijuana extracts in pediatric epilepsies remain poorly understood. Therefore, in light of these paradigm-changing clinical events, the present review's findings aim to drive future drug development for newly-identified targets and indications, identify important limitations of animal models in the investigation of plant cannabinoid effects in the epilepsies, and focuses future research in this area on specific, unanswered questions regarding the complexities of endocannabinoid signaling in epilepsy. This article is part of a Special Issue titled Cannabinoids and Epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. 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

  9. 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 ...

  10. 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 ...

  11. Genetics Home Reference: Lafora progressive myoclonus epilepsy

    Science.gov (United States)

    ... Conditions Lafora progressive myoclonus epilepsy Lafora progressive myoclonus epilepsy Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures ( ...

  12. Sudden Unexpected Death in Epilepsy (SUDEP)

    Science.gov (United States)

    ... this? Submit What's this? Submit Button Sudden Unexpected Death in Epilepsy (SUDEP) Recommend on Facebook Tweet Share ... living with epilepsy, the risk of Sudden Unexpected Death in Epilepsy (SUDEP) is an important concern. SUDEP ...

  13. Past absence as a predictor of present absence

    DEFF Research Database (Denmark)

    Løkke Møller, Ann-Kristina Løkke

    2014-01-01

    that past days and past spells have an equal potential of predicting present absent. Past absence behaviour can thus be used as an early warning for managers. The study also confirms that personal characteristics such as age and seniority also influence absence duration. Moreover, job characteristics......This article investigates whether past absence behaviour is a predictor of present absence duration in a large Danish municipality with 17,499 individuals observed from 1996 to 2004. Past absence behaviour is measured in both absence days and absence spells. The article also investigates a number...... of confounders such as gender, age, seniority, wage, contracted number of work hours and season. The results of the empirical study show that there is a significant positive relationship between employees' absence duration and past absence spells and past absence days, respectively. The study thus confirms...

  14. Issues related to symptomatic and disease-modifying treatments affecting cognitive and neuropsychiatric comorbidities of epilepsy

    Science.gov (United States)

    Brooks-Kayal, Amy R.; Bath, Kevin G.; Berg, Anne T.; Galanopoulou, Aristea S.; Holmes, Gregory L.; Jensen, Frances E.; Kanner, Andres M.; O’Brien, Terence J.; Whittemore, Vicky H.; Winawer, Melodie R.; Patel, Manisha; Scharfman, Helen E.

    2014-01-01

    Summary Many symptoms of neurologic or psychiatric illness—such as cognitive impairment, depression, anxiety, attention deficits, and migraine—occur more frequently in people with epilepsy than in the general population. These diverse comorbidities present an underappreciated problem for people with epilepsy and their caregivers because they decrease quality of life, complicate treatment, and increase mortality. In fact, it has been suggested that comorbidities can have a greater effect on quality of life in people with epilepsy than the seizures themselves. There is increasing recognition of the frequency and impact of cognitive and behavioral comorbidities of epilepsy, highlighted in the 2012 Institute of Medicine report on epilepsy. Comorbidities have also been acknowledged, as a National Institutes of Health (NIH) Benchmark area for research in epilepsy. However, relatively little progress has been made in developing new therapies directed specifically at comorbidities. On the other hand, there have been many advances in understanding underlying mechanisms. These advances have made it possible to identify novel targets for therapy and prevention. As part of the International League Against Epilepsy/American Epilepsy Society workshop on preclinical therapy development for epilepsy, our working group considered the current state of understanding related to terminology, models, and strategies for therapy development for the comorbidities of epilepsy. Herein we summarize our findings and suggest ways to accelerate development of new therapies. We also consider important issues to improve research including those related to methodology, nonpharmacologic therapies, biomarkers, and infrastructure. PMID:23909853

  15. Natural History of Temporal Lobe Epilepsy: Antecedents and Progression

    Directory of Open Access Journals (Sweden)

    Garima Shukla

    2012-01-01

    Full Text Available Temporal lobe epilepsy represents the largest group of patients with treatment resistant/medically intractable epilepsy undergoing epilepsy surgery. The underpinnings of common forms of TLE in many instances begin in early life with the occurrence of an initial precipitating event. The first epileptic seizure often occurs after a variable latency period following this event. The precise natural history and progression following the first seizure to the development of TLE, its subsequent resolution through spontaneous remission or the development of treatment resistant epilepsy remain poorly understood. Our present understanding of the role played by these initial events, the subsequent latency to development of temporal lobe epilepsy, and the emergence of treatment resistance remains incomplete. A critical analysis of published data suggest that TLE is a heterogeneous condition, where the age of onset, presence or absence of a lesion on neuroimaging, the initial precipitating event, association with febrile seizures, febrile status epilepticus, and neurotropic viral infections influence the natural history and outcome. The pathways and processes through which these variables coalesce into a framework will provide the basis for an understanding of the natural history of TLE. The questions raised need to be addressed in future prospective and longitudinal observational studies.

  16. 16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.

    Science.gov (United States)

    Miteff, Christina I; Smith, Robert L; Bain, Nicole L; Subramanian, Gopinath; Brown, Janis E; Kamien, Ben

    2015-01-01

    We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a 16p13.11 deletion and identifies another potential causal factor for hemiconvulsion-hemiplegia-epilepsy syndrome. © The Author(s) 2014.

  17. New therapeutic opportunities in epilepsy: a genetic perspective.

    Science.gov (United States)

    Reid, Christopher A; Jackson, Graeme D; Berkovic, Samuel F; Petrou, Steven

    2010-11-01

    Epilepsy is a common and serious neurological disorder. Despite recent advances in drug therapy, treatment for epilepsy is still largely empirical and rational prescribing based on the mechanism of action in an individual patient is generally not possible. Genetic studies have identified an increasing collection of disease-causing genes providing a fundamental molecular foundation on which to build this understanding, at least for some forms of epilepsy. The impact of these genetic discoveries is likely to be wide reaching-from the discovery and validation of new drug targets to the potential to enable rational prescribing based on genetic makeup and even further through animal experimentation to tease out molecular and cellular mechanisms that lead to hyperexcitable neuronal networks causing epilepsy. Here we discuss how we can use knowledge of genetic mechanisms to improve treatment strategies now and into the future. Copyright © 2010 Elsevier Inc. All rights reserved.

  18. Core elements of epilepsy diagnosis and management: expert consensus from the Leadership in Epilepsy, Advocacy, and Development (LEAD) faculty.

    Science.gov (United States)

    Glauser, Tracy A; Sankar, Raman

    2008-12-01

    Although epilepsy is relatively common, only a limited number of specialized epilepsy centers exist in the United States. Therefore, epilepsy diagnosis and management frequently occur in the community setting. This can complicate patient management and suboptimal care is a potential concern. Delayed recognition and inadequate treatment increase the risk of subsequent seizures, brain damage, disability, and death from seizure-related injuries. To identify core elements of epilepsy management that should be offered to all patients, the Leadership in Epilepsy, Advocacy, and Development (LEAD) faculty assessed current practical issues and identified practices to improve patient care and outcomes. This paper presents a consensus opinion formed from a survey of 26 current LEAD faculty members, who answered 105 questions about epilepsy diagnosis and patient evaluation, treatment decisions, lifelong monitoring, and the management of special patient subgroups. Consensus agreement was concluded when >or=50% of the faculty provided the same answer. The results were compiled and areas of consensus are included in this report. The recommendations provided in this commentary are limited by the scope of the survey. Consensus was reached on several minimum standard patient management practices. Primary among these minimum standards of care is the need for diagnosis including a detailed medical history, neurological examination, discussions with caregivers, and diagnostic tests including electroencephalograms and magnetic resonance imaging. As the overall goals of therapy include seizure freedom, minimizing side effects, and improving quality of life and long-term safety, therapy decisions should consider parameters that affect these goals, including potential adverse effects of therapy. Antiepileptic drug selection should consider coexisting conditions for possible exacerbation of disease and potential drug-drug interactions. The core elements of epilepsy management identified

  19. 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.

  20. Impairment of inhibitory control of the hypothalamic pituitary adrenocortical system in epilepsy.

    Science.gov (United States)

    Zobel, Astrid; Wellmer, Jörg; Schulze-Rauschenbach, Svenja; Pfeiffer, Ute; Schnell, Susanne; Elger, Christian; Maier, Wolfgang

    2004-10-01

    Excess comorbidity between depression and epilepsy proposes common pathophysiological patterns in both disorders. Neuroendocrine abnormalities were often observed in depression as well as in epilepsy. Lack of inhibitory control of the hypothalamic pituitary adrenocortical (HPA) system is a core feature of depression; main relay stations of this system are located in the amygdala and hippocampus, which are key regions for both disorders. Therefore we explored the feedback mechanism of the HPA system in epilepsy. In order to control for the impact of depression we focused on epilepsies without depression. We compared patients with epilepsy (subdivided by medication with or without hepatic enzyme inducing antiepileptic medication) with 16 healthy controls and 16 patients with unipolar major depression but without epilepsy. We observed a lack of inhibitory control of the HPA system in patients with epilepsy, also in the absence of enzyme inducing medication. An impact of the temporal lobe location of the epileptic focus could not be observed. Thus, epilepsies share with depression the deficiencies in the feedback mechanism of the HPA system, proposing common pathophysiological features of up to now unknown nature.

  1. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.

    Science.gov (United States)

    Nabbout, R; Andrade, D M; Bahi-Buisson, N; Cross, H; Desquerre, I; Dulac, O; Granata, T; Hirsch, E; Navarro, V; Ouss, L; Pearl, P L; Schmidt, D; Thiele, E; Camfield, P R; Camfield, C S

    2017-04-01

    This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders). The second group includes disorders with changing problems in adulthood (tuberous sclerosis complex, Rett syndrome, Dravet syndrome, and autism). A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile Myoclonic Epilepsy, West Syndrome, and Lennox-Gastaut syndrome). A fourth group consists of epilepsies that vary in symptoms and severity depending on the age of onset (autoimmune encephalitis, Rasmussen's syndrome). A fifth group has epilepsy from structural causes that are less likely to evolve in adulthood. Finally we have included a discussion about the risk of later adulthood cerebrovascular disease and dementia following childhood-onset epilepsy. A detailed knowledge of each of these disorders should assist the process of transition to be certain that attention is paid to the most important age-related symptoms and concerns. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. 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.

  3. Perirhinal cortex and temporal lobe epilepsy

    Directory of Open Access Journals (Sweden)

    Giuseppe eBiagini

    2013-08-01

    Full Text Available The perirhinal cortex – which is interconnected with several limbic structures and is intimately involved in learning and memory - plays major roles in pathological processes such as the kindling phenomenon of epileptogenesis and the spread of limbic seizures. Both features may be relevant to the pathophysiology of mesial temporal lobe epilepsy that represents the most refractory adult form of epilepsy with up to 30% of patients not achieving adequate seizure control. Compared to other limbic structures such as the hippocampus or the entorhinal cortex, the perirhinal area remains understudied and, in particular, detailed information on its dysfunctional characteristics remains scarce; this lack of information may be due to the fact that the perirhinal cortex is not grossly damaged in mesial temporal lobe epilepsy and in models mimicking this epileptic disorder. However, we have recently identified in pilocarpine-treated epileptic rats the presence of selective losses of interneuron subtypes along with increased synaptic excitability. In this review we: (i highlight the fundamental electrophysiological properties of perirhinal cortex neurons; (ii briefly stress the mechanisms underlying epileptiform synchronization in perirhinal cortex networks following epileptogenic pharmacological manipulations; and (iii focus on the changes in neuronal excitability and cytoarchitecture of the perirhinal cortex occurring in the pilocarpine model of mesial temporal lobe epilepsy. Overall, these data indicate that perirhinal cortex networks are hyperexcitable in an animal model of temporal lobe epilepsy, and that this condition is associated with a selective cellular damage that is characterized by an age-dependent sensitivity of interneurons to precipitating injuries, such as status epilepticus.

  4. 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.

  5. Seeking care for epilepsy and its impacts on households in a rural district in southern Malawi

    Directory of Open Access Journals (Sweden)

    Alister Munthali

    2013-01-01

    Full Text Available Background: Epilepsy is a disability as defined in the 2012 Disability Act of the Government of Malawi.Objectives: This article explores the health-seeking behaviour of people with epilepsy in a rural town in southern Malawi and how having a person with epilepsy impacts on the households’ productivity.Method: A snowball approach was used to identify persons with various forms of disabilities. The article is based on a bigger study carried out in Malawi which explored how persons with disabilities seek health care. In this bigger study, a total of 63 interviews were done with persons with disabilities or their guardians. Eight of the 63 interviews were with persons with epilepsy and this article is based on these interviews.Results: The study found that persons with epilepsy seek both traditional and modern medicines to treat the condition. Informants mentioned that barriers to accessing western treatment include lack of medicines, congestion at health facilities, lack of knowledge about epilepsy, misdiagnosis by health workers and the belief that epilepsy caused by witchcraft cannot be treated by western medicine. The study also highlights the wider impacts of epilepsy on the household such as the failure of children to attend school, children dropping out of school, stigma and discrimination and households being driven deeper into poverty as a result of seeking care for members with epilepsy.Conclusion: The existing barriers to accessing treatment for epilepsy can be addressed by using a combination of public education, simple treatments and regular reviews. Ensuring constant availability of drugs for the treatment of epilepsy is key to effective treatment of the condition. This would contribute to closing the treatment gap for epilepsy as advocated by the Global Campaign against Epilepsy.

  6. Parental Infertility, Fertility Treatment, and Childhood Epilepsy: A Population-Based Cohort Study.

    Science.gov (United States)

    Kettner, Laura O; Ramlau-Hansen, Cecilia H; Kesmodel, Ulrik S; Bay, Bjørn; Matthiesen, Niels B; Henriksen, Tine B

    2016-09-01

    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. 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 was obtained from pregnancy questionnaires in early pregnancy. Children developing epilepsy were identified from the Danish National Patient Register and the Danish National Prescription Registry until 2013. Data were analysed using Cox proportional hazards regression adjusted for potential confounders. 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 (0.73, 1.60) and 1.04 (0.71, 1.52)). In secondary analyses, both parental infertility and fertility treatment were associated with an increased risk of idiopathic generalised epilepsy (HRs and 95% CIs: 2.25 (1.10, 4.58) and 2.45 (1.26, 4.75)). No association was seen for focal epilepsy. Parental infertility or fertility treatment was not associated with an overall risk of childhood epilepsy. Parental infertility may be associated with an increased risk of idiopathic generalised epilepsy; a subtype of epilepsy believed to be of genetic origin. © 2016 John Wiley & Sons Ltd.

  7. Confronting the stigma of epilepsy

    OpenAIRE

    Thomas, Sanjeev V.; Aparna Nair

    2011-01-01

    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 discrimina...

  8. A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors.

    Science.gov (United States)

    Kang, Jing-Qiong; Barnes, Gregory

    2013-01-01

    Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and neurite outgrowth. Genetic advances have identified multiple molecules that participate in neural development, brain network connectivity, and synaptic function which are involved in the pathogenesis of autism and epilepsy. Mutations in GABA(A) receptor subunit have been frequently associated with epilepsy, autism, and other neuropsychiatric disorders. In this paper, we address the hypothesis that functional deficiency of GABAergic signaling is a potential common molecular mechanism underpinning the co-morbidity of autism and epilepsy.

  9. Factors affecting the quality of life in childhood epilepsy in China.

    Science.gov (United States)

    Yong, L; Chengye, J; Jiong, Q

    2006-03-01

    To explore the level of, and factors affecting the quality of life (QOL) in childhood epilepsy in China. At the Peking University First Hospital, we consecutively identified 418 parents whose children were with known epilepsy to complete a questionnaire, which included children's demographic characteristics, clinical message of epilepsy, QOL, familial message, parental symptoms of anxiety/depression. Significant (paffecting factors of children's quality of life included current educational degree, mental development, age at diagnosis, age at onset, seizure frequency, duration, AED number; parental significant (paffecting factors included anxiety, depression and health. On regression analysis, parental anxiety was the most important factor in explaining lower QOL in childhood epilepsy. AEDs, familial economic state, paternal career, seizure frequency were also significant factors. Parental anxiety outweighed the physical factors in determining QOL in childhood epilepsy. Recognition of this will be helpful for professionals to treat disease and improve the QOL of childhood epilepsy.

  10. [Education of children with epilepsy and their parents by the modular education program epilepsy for families (FAMOSES)--results of an evaluation study].

    Science.gov (United States)

    Rau, J; May, T W; Pfäfflin, M; Heubrock, D; Petermann, F

    2006-02-01

    The aim of the study was to evaluate the efficacy of the modular educational program for children with epilepsy and their parents (FAMOSES). This program was developed by an interdisciplinary project group to improve knowledge, coping, treatment outcome, emotional and practical adaptation to the condition. A prospective, controlled, multi-center, pre-post study design was used to examine the efficacy of the program in the treatment group compared to the waiting group (control group). Questionnaires included epilepsy specific scales regarding knowledge, attitudes, restrictions in daily living, epilepsy related fears, coping with the chronic disease and generic instruments (quality of life, KINDL). 55 parents of the treatment group completed the questionnaires three months before the course and three months later; the corresponding waiting group included 48 parents. Respectively, 31 children, who participated in the program, completed the questionnaires immediately before the course and three months later; the corresponding waiting group included 19 children. Children, who attended the program, showed improvements in the domains perceived restrictions (significant, medium effect size), absence from school and seizure frequency. Not significantly greater compared to the control group were the improvements of knowledge, attitudes and fears regarding to the epilepsy. Parents of the treatment group showed significant enhancements in epilepsy specific knowledge (large effect size), attitudes toward the epilepsy, management of epileptic seizures and significant reductions of fears and restrictions of their child with epilepsy (small to medium effect sizes).

  11. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

    Directory of Open Access Journals (Sweden)

    Heather C Mefford

    2010-05-01

    Full Text Available Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal dominant and severe sporadic forms of epilepsy, but the genetic cause is unknown in the vast majority of cases. Copy number variants (CNVs are known to play an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID, autism, and schizophrenia. Genome-wide studies of copy number variation in epilepsy have not been performed. We have applied whole-genome oligonucleotide array comparative genomic hybridization to a cohort of 517 individuals with various idiopathic, non-lesional epilepsies. We detected one or more rare genic CNVs in 8.9% of affected individuals that are not present in 2,493 controls; five individuals had two rare CNVs. We identified CNVs in genes previously implicated in other neurodevelopmental disorders, including two deletions in AUTS2 and one deletion in CNTNAP2. Therefore, our findings indicate that rare CNVs are likely to contribute to a broad range of generalized and focal epilepsies. In addition, we find that 2.9% of patients carry deletions at 15q11.2, 15q13.3, or 16p13.11, genomic hotspots previously associated with ID, autism, or schizophrenia. In summary, our findings suggest common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy.

  12. Epilepsy: A Call for Help

    Directory of Open Access Journals (Sweden)

    Venkatraman Sadanand

    2018-01-01

    Full Text Available Epilepsy is a considerable individual and social economic burden. In properly selected patients, epilepsy surgery can provide significant relief from disease, including remission. However, the surgical treatment of epilepsy lags in terms of knowledge and technology. The problem arises due to its slow adaptation and dissemination. This article explores this issue of a wide treatment gap and its causes. It develops a framework for a rational decision-making process that is appropriate for extant circumstances and will result in the speedy delivery of surgical care for suitable patients with medically intractable epilepsy.

  13. Epilepsy: A Call for Help.

    Science.gov (United States)

    Sadanand, Venkatraman

    2018-01-28

    Epilepsy is a considerable individual and social economic burden. In properly selected patients, epilepsy surgery can provide significant relief from disease, including remission. However, the surgical treatment of epilepsy lags in terms of knowledge and technology. The problem arises due to its slow adaptation and dissemination. This article explores this issue of a wide treatment gap and its causes. It develops a framework for a rational decision-making process that is appropriate for extant circumstances and will result in the speedy delivery of surgical care for suitable patients with medically intractable epilepsy.

  14. 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.

  15. Seizures, syndromes, and etiologies in childhood epilepsy: The International League Against Epilepsy 1981, 1989, and 2017 classifications used in a population-based cohort.

    Science.gov (United States)

    Aaberg, Kari Modalsli; Surén, Pål; Søraas, Camilla Lund; Bakken, Inger Johanne; Lossius, Morten I; Stoltenberg, Camilla; Chin, Richard

    2017-11-01

    The study provides updated information about the distribution of seizures, epilepsies, and etiologies of epilepsy in the general child population, and compares the old and new classification systems from the International League Against Epilepsy (ILAE). The study platform was the Norwegian Mother and Child Cohort Study. Cases of epilepsy were identified through registry linkages and sequential parental questionnaires. Epilepsy diagnoses were validated using a standardized protocol, and seizures, epilepsies, and etiologies were classified according to the old (ILAE 1981/1989) and new (ILAE 2017) classifications. Information was collected through medical record reviews and/or parental telephone interviews. The study population included 112,744 children aged 3-13 years at the end of follow-up on December 31, 2012. Of these, there were 606 children with epilepsy (CWE). Distribution of seizure types varied by age of onset. Multiple seizure types were common with early onset. Focal epilepsies were the most common, occurring in 317 per 100,000 children in the study population and in 59% of CWE. Generalized epilepsies were found in 190 per 100,000 (35% of CWE). CWE with onset during the first 2 years of life had an even distribution of focal and generalized epilepsies, whereas focal epilepsies became dominant at later ages of onset. A definite cause of epilepsy had been demonstrated in 33% of CWE. The ILAE 1989 classification allowed for a broad syndrome category in 93% of CWE and a defined epileptic syndrome in 37%. With the ILAE 2017 classification, 41% of CWE had a defined epileptic syndrome and 63% had either a defined syndrome or structural-metabolic etiology. The distribution of seizures and epilepsies is strongly dependent on age of onset. Despite diagnostic advances, the causes of epilepsy are still unknown in two-thirds of CWE. The ILAE 2017 classifications allow for a higher precision of diagnoses, but at the expense of leaving more epilepsies classifiable only

  16. Burns and epilepsy.

    Science.gov (United States)

    Berrocal, M

    1997-01-01

    This is a report of the first descriptive analytic study of a group of 183 burn patients, treated in the Burn Unit at the University Hospital of Cartagena, Colombia during the period since January 1985 until December 1990. There is presented experience with the selected group of 24 patients in whom the diagnosis of burn was associated with epilepsy. There is also analysed and described the gravity of the scars sequels, neurological disorders, the complication of the burn and an impact of this problem on the patient, his (her) family and the community. It is very important to report that there was found Neurocisticercosis in 66.6% of the group of burn patients with epilepsy, and it is probably the first risk factor of burn in this group.

  17. Rolandic epilepsy and dyslexia

    Directory of Open Access Journals (Sweden)

    Ecila P. Oliveira

    2014-11-01

    Full Text Available Objective Although benign epilepsy with centrotemporal spikes (BECTS is an idiopathic, age-related epilepsy syndrome with favorable outcome, recent studies have shown impairment in specific neuropsychological tests. The objective of this study was to analyze the comorbidity between dyslexia and BECTS. Method Thirty-one patients with clinical and electroencephalographic diagnosis of BECTS (group A and 31 paired children (group B underwent a language and neuropsychological assessment performed with several standardized protocols. Our findings were categorized as: a dyslexia; b other difficulties; c without difficulties. Our results were compared and statistically analyzed. Results Our data showed that dyslexia occurred in 19.4% and other difficulties in 74.2% of our patients. This was highly significant when compared with the control group (p<0.001. Phonological awareness, writing, reading, arithmetic, and memory tests showed a statistically significant difference when comparing both groups. Conclusion Our findings show significant evidence of the occurrence of dyslexia in patients with BECTS.

  18. Epilepsy in ancient India.

    Science.gov (United States)

    Manyam, B V

    1992-01-01

    The ancient Indian medical system, Ayurveda, meaning science of life, is the oldest system of medicine in the world. Epilepsy is defined as Apasmara: apa, meaning negation or loss of; smara, meaning recollection or consciousness. Aura was recognized and was called Apasmara Poorva Roopa. A large number of symptoms indicative of aura were listed. Worthy of mention are subjective sensation of sounds, sensation of darkness, feeling of delusion, and dream-like state. An actual attack of Apasmara includes falling down; shaking of the hands, legs, and body; rolling up of the eyes; grinding of the teeth; and foaming at the mouth. Four major types of epilepsy based on the disturbance of doshas (humors) that govern the physiological and physiochemical activities of the body are mentioned. Apasmara is considered a dangerous disease that is chronic and difficult to treat. Several causes are mentioned. Treatment included correcting the etiological factors and dietary regimen and avoiding dangerous places that may result in injuries.

  19. Epilepsy and videogames.

    Science.gov (United States)

    Bureau, Michelle; Hirsch, Edouard; Vigevano, Federico

    2004-01-01

    Since the first case of videogame (VG) epilepsy was reported in 1981, many cases of seizures triggered by VGs were reported, not only in photosensitive, but also in non-photosensitive children and adolescents with epilepsy. We provide an overview of the literature with overall conclusions and recommendations regarding VG playing. Specific preventive measures concerning the physical characteristics of images included in commercially available VGs (flash rate, choice of colors, patterns, and contrast) can lead in the future to a clear decrease of this problem. In addition to the positive effect of such measures, the collaborative studies performed in France and in the rest of Europe have stressed the importance of a safe distance to the screen of > or = 2 m, and the less provocative role of 100-Hz screens.

  20. Rolandic epilepsy and dyslexia.

    Science.gov (United States)

    Oliveira, Ecila P; Neri, Marina L; Capelatto, Lívia L; Guimarães, Catarina A; Guerreiro, Marilisa M

    2014-11-01

    Although benign epilepsy with centrotemporal spikes (BECTS) is an idiopathic, age-related epilepsy syndrome with favorable outcome, recent studies have shown impairment in specific neuropsychological tests. The objective of this study was to analyze the comorbidity between dyslexia and BECTS. Thirty-one patients with clinical and electroencephalographic diagnosis of BECTS (group A) and 31 paired children (group B) underwent a language and neuropsychological assessment performed with several standardized protocols. Our findings were categorized as: a) dyslexia; b) other difficulties; c) without difficulties. Our results were compared and statistically analyzed. Our data showed that dyslexia occurred in 19.4% and other difficulties in 74.2% of our patients. This was highly significant when compared with the control group (pdyslexia in patients with BECTS.

  1. Legal implications of epilepsy.

    Science.gov (United States)

    Beresford, H R

    1988-01-01

    Physicians who care for patients with epilepsy may function as agents or targets of social control. As agents, they may assist in the identification and control of epileptic drivers, may provide information that enables fair and appropriate job placements for epileptic persons, and give testimony that helps the legal system resolve issues relating to the liability of epileptic persons for harm attributed to seizures or interictal behavioral disturbances. As targets, they may be charged with negligent failure to diagnose, treat, or inform about epilepsy or its associated problems, with failure to exercise due care in protecting persons harmed by their patients, or with failure to preserve confidentiality of medical information. Although legislation and judicial decisions have defined some of the physician's legal duties with reasonable clarity, areas of uncertainty remain, particularly regarding the issue of violating medical confidentiality for the benefit of persons other than the patient.

  2. Dynamics of absence seizures

    Science.gov (United States)

    Deeba, Farah; Sanz-Leon, Paula; Robinson, Peter

    A neural field model of the corticothalamic system is used to investigate the dynamics of absence seizures in the presence of temporally varying connection strength between the cerebral cortex and thalamus. Variation of connection strength from cortex to thalamus drives the system into seizure once a threshold is passed and a supercritical Hopf bifurcation occurs. The dynamics and spectral characteristics of the resulting seizures are explored as functions of maximum connection strength, time above threshold, and ramp rate. The results enable spectral and temporal characteristics of seizures to be related to underlying physiological variations via nonlinear dynamics and neural field theory. Notably, this analysis adds to neural field modeling of a wide variety of brain activity phenomena and measurements in recent years. Australian Research Council Grants FL1401000225 and CE140100007.

  3. Epilepsy or a Seizure Disorder? Parental Knowledge and Misconceptions About Terminology.

    Science.gov (United States)

    Nagan, Margot; Caffarelli, Mauro; Donatelli, Stephanie; Rosman, N Paul

    2017-12-01

    To assess primary caregiver understanding of the term epilepsy. A cross-sectional telephone survey evaluated understanding of the term epilepsy among primary caregivers of children diagnosed with epilepsy at an urban referral center during a 24-month period. Three measures of primary caregiver understanding were used: (1) identifying if their child had a seizure disorder, epilepsy, or both; (2) providing an open-ended definition of epilepsy; and (3) selecting from a multiple-choice definition of epilepsy. Caregivers with 3 correct answers were assigned the greatest knowledge score. Associations with possible predictor variables were analyzed. Caregivers for 75 of 116 eligible patients were contacted successfully. Of those, 55 of 75 met eligibility criteria; 45 of the eligible caregivers completed the survey. Twenty-six of 45 caregivers (58%) identified that their child had both a seizure disorder and epilepsy, 5 of 45 (11%) provided a correct open-ended definition of epilepsy, and 16 of 45 (36%) selected the correct multiple-choice definition. Fifteen caregivers (33%) had no correct answers. Seventeen (38%) answered 1, 9 (20%) answered 2, and 4 (9%) answered all 3 measures correctly. Caregivers with greater self-rated understanding had greater epilepsy knowledge scores (P = .008). Having a child neurologist as the first person to discuss the diagnosis with the caregiver also predicted a greater epilepsy knowledge score (P = .04). Most primary caregivers of children with epilepsy have a poor understanding of the term epilepsy. Changes are needed in how we educate caregivers about the meaning of this term. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Identifying factors relevant in the assessment of return-to-work efforts in employees on long-term sickness absence due to chronic low back pain : a focus group study

    NARCIS (Netherlands)

    Muijzer, Anna; Geertzen, Jan H.; de Boer, Wout E.; Groothoff, Johan W.; Brouwer, Sandra

    2012-01-01

    Background: Efforts undertaken during the return to work (RTW) process need to be sufficient to prevent unnecessary applications for disability benefits. The purpose of this study was to identify factors relevant to RTW Effort Sufficiency (RTW-ES) in cases of sick-listed employees with chronic low

  5. [Epilepsy and Driving].

    Science.gov (United States)

    Takagi, Shunsuke; Matsuura, Masato

    2017-10-01

    In Japan, the Road Traffic Act was amended in 2013, and the revision was enacted in 2014. This revision includes new rules such as the requirement that a driver declare medical conditions on licensing, with a penalty for false statements. There is also a new voluntary notification system that enables doctors to report unlawful drivers. At the same time, the new Criminal Law Act was enacted. This act provides a penalty for causing death or injury to other persons by driving under the influence of specific drugs or diseases, including epilepsy. There is a prison term of up to 15 years for this violation. These new laws are the result of several tragic motor vehicle accidents caused by patients with epilepsy who were unfit to drive, and severe punishments are involved. Japan still requires a longer seizure-free period for licensing of patients with epilepsy (2 or 5 years), as opposed to the shorter periods required by other developed countries (US, 3 to 12 months; EU, 12 months). It is debatable whether harsh punishments are more effective in reducing accidents. Further reevaluation and discussion are needed on this issue because a restrictive policy for handicapped persons should be based on scientific evidence and should not be biased by prejudice and discrimination.

  6. [Epilepsy and driving].

    Science.gov (United States)

    Matsuura, Masato

    2013-01-01

    The amends to the driving regulations in Japan made in 2002 lifted the absolute ban on driving by persons with epilepsy (PWE) and granted licenses to PWE after a 2-year seizure-free period. In 2010, 3,373 PWE obtained a driving license, 119 had their license withheld for compliance to traffic regulations and to reduce traffic accidents, the Japan Epilepsy Society passed a proposal of more liberal rules for fitness-to-drive on 11th October 2012; according to this proposal, people with a history of epilepsy can be declared fit-to-drive after a one-year seizure-free period. On 25th October 2012, the Japan License Authority introduced new penal regulations for PWE who do not comply with traffic regulations and proposed a voluntary notification system for a physician in charge of a non-compliant PWE. Public acceptance of these new regulations is needed for reconciliation between the attenuation of traffic accidents and the promotion of living rights of PWE in Japan.

  7. Nonpharmacological treatment of epilepsy.

    Science.gov (United States)

    Saxena, V S; Nadkarni, V V

    2011-07-01

    Nonpharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies, e.g., yoga, Ayurveda, electroencephalography (EEG) biofeedback technique, aerobic exercise, music therapy, transcranial magnetic stimulation, acupuncture, and herbal remedies (traditional Chinese medicine). Alternative therapies, despite the term, should not be considered as an alternative to antiepileptic medication; they complement accepted drug treatment. Alternative therapies like yoga, through techniques that relax the body and mind, reduce stress, improve seizure control, and also improve quality of life. Ketogenic diet is a safe and effective treatment for intractable epilepsies; it has been recommended since 1921. The diet induces ketosis, which may control seizures. The most successful treatment of epilepsy is with modern antiepileptic drugs, which can achieve control of seizures in 70-80% cases. Patients opt for alternative therapies because they may be dissatisfied with antiepileptic drugs due to their unpleasant side effects, the long duration of treatment, failure to achieve control of seizures, cultural beliefs and, in the case of women, because they wish to get pregnant Surgical treatment may lead to physical and psychological sequelae and is an option only for a minority of patients. This article presents supportive evidence from randomized controlled trials done to assess the benefit of non-pharmacological treatment.

  8. The epilepsy of Dostoevsky.

    Science.gov (United States)

    Kiloh, L G

    1986-01-01

    The evidence in favour of a diagnosis of limbic epilepsy in the case of Dostoevsky is reviewed. Independent records from numerous biographical sources support the widely held view that Dostoevsky had frequent convulsive episodes, that the episodes began in childhood and continued throughout his life and that Dostoevsky himself was able accurately to record the premonitory aura and sequelae of such episodes. In addition the increasing memory impairment he suffered both for recent and remote events from the age of 40 supports the presence of progressive brain damage. This information renders implausible the analytic interpretations of Freud and his followers, that Dostoevsky's epilepsy was hysterical in origin, where epileptiform somatization was presumed to dispose of excessive psychic excitation, and that this process had its roots in Dostoevsky's unconscious hatred of his father and latent homosexuality. Nevertheless, Dostoevsky's neuroticism is clearly supported by his life-long hypochondriasis, obsessionality, paranoid traits, tendency to reactive depressions, and experience of quasi-hallucinatory episodes which were probably not epileptic in origin. Neither his epilepsy nor his neuroticism can explain or detract from the profundity and wisdom of the literary monuments which clearly attest Dostoevsky's ample genius.

  9. Epilepsia fotosensible Photosensitive epilepsy

    Directory of Open Access Journals (Sweden)

    Desiderio Rafael Pozo Lauzán

    2011-09-01

    Full Text Available La epilepsia fotosensible es una forma de epilepsia refleja que ocurre en pacientes con crisis provocadas por la estimulación luminosa intermitente a variados estímulos (televisión, luz solar, videojuegos u otros. El objetivo fundamental de este trabajo es la presentación de 4 pacientes con las características de esta epilepsia. Se describieron las manifestaciones clínicas de cada uno y su tratamiento. Ningún paciente presentó crisis epilépticas espontáneas. En todos los niños la maniobra de la fotoestimulación fue positiva, pero no provocó crisis epilépticas. Se concluyó que lograr la eliminación de los estímulos que provocan las crisis es más importante que su tratamiento medicamentoso.Photosensitive epilepsy is a kind of reflex epilepsy occurring in patients with crises provoked by the intermittent luminous stimulation to different stimuli (television, sunlight, videogames, etc. The main objective of present paper is the presentation of four patients presenting the features of this type of epilepsy. The clinical manifestations of each and its treatment were described. Any patient had spontaneous epileptic crises. In all children the maneuver of photostimulation was positive, but without epileptic crises. We conclude that the achievement the elimination of stimuli provoking crisis is more important than its drug treatment.

  10. Dietary Therapies for Epilepsy

    Directory of Open Access Journals (Sweden)

    Eric H Kossoff

    2013-02-01

    Full Text Available Since their introduction in 1921, high-fat, low-carbohydrate "ketogenic" diets have been used worldwide for refractory childhood epilepsy. Approximately half of the children have at least half their seizures reduced, including 15% who are seizure free. The mechanisms of action of dietary therapies are under active investigation and appear to involve mitochondria. Once perceived as a last resort, modifications to initiation and maintenance, as well as the widespread use of pre-made ketogenic formulas have allowed dietary treatment to be used earlier in the course of epilepsy. For infantile spasms (West syndrome specifically, the ketogenic diet is successful about 50% of the time as a first-line treatment. New "alternative" diets such as the modified Atkins diet were created in 2003 and can be started more easily and are less restrictive. They may have particular value for countries in Asia. Side effects include constipation, dyslipidemia, growth slowing, acidosis, and kidney stones. Additionally, neurologists are studying ketogenic diets for conditions other than epilepsy, including Alzheimer's disease, autism, and brain tumors.

  11. Nonpharmacological treatment of epilepsy

    Directory of Open Access Journals (Sweden)

    V S Saxena

    2011-01-01

    Full Text Available Nonpharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies, e.g., yoga, Ayurveda, electroencephalography (EEG biofeedback technique, aerobic exercise, music therapy, transcranial magnetic stimulation, acupuncture, and herbal remedies (traditional Chinese medicine. Alternative therapies, despite the term, should not be considered as an alternative to antiepileptic medication; they complement accepted drug treatment. Alternative therapies like yoga, through techniques that relax the body and mind, reduce stress, improve seizure control, and also improve quality of life. Ketogenic diet is a safe and effective treatment for intractable epilepsies; it has been recommended since 1921. The diet induces ketosis, which may control seizures. The most successful treatment of epilepsy is with modern antiepileptic drugs, which can achieve control of seizures in 70-80% cases. Patients opt for alternative therapies because they may be dissatisfied with antiepileptic drugs due to their unpleasant side effects, the long duration of treatment, failure to achieve control of seizures, cultural beliefs and, in the case of women, because they wish to get pregnant Surgical treatment may lead to physical and psychological sequelae and is an option only for a minority of patients. This article presents supportive evidence from randomized controlled trials done to assess the benefit of non-pharmacological treatment.

  12. Focal epilepsies in adult patients attending two epilepsy centers

    DEFF Research Database (Denmark)

    Gilioli, Isabella; Vignoli, Aglaia; Visani, Elisa

    2012-01-01

    PURPOSE: To classify the grade of antiepileptic drug (AED) resistance in a cohort of patients with focal epilepsies, to recognize the risk factors for AED resistance, and to estimate the helpfulness of "new-generation" AEDs. METHODS: We included 1,155 adults with focal epilepsies who were observe...

  13. 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…

  14. 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

  15. 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.

  16. 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...

  17. 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.

  18. Postterm delivery and risk for epilepsy in childhood.

    Science.gov (United States)

    Ehrenstein, Vera; Pedersen, Lars; Holsteen, Vibeke; Larsen, Helle; Rothman, Kenneth J; Sørensen, Henrik T

    2007-03-01

    Postterm delivery is a risk factor for perinatal complications, some of which increase risk for neurologic morbidity. We aimed to examine the association between postterm delivery and risk for epilepsy in childhood. We conducted a cohort study of singleton children who were born in 3 Danish counties from 1980 to 2001. Birth registry data were linked with hospital records to identify cases of epilepsy in the first 12 years of life. We included children who were born at > or = 39 gestational weeks and computed crude, age-specific, and birth weight standardized incidence rates of epilepsy. We estimated adjusted incidence rate ratios according to mode of delivery by Poisson regression. Among the 277,435 nonpreterm births, 32,557 were at > or = 42 weeks, including 3396 at > or = 43 weeks. Nearly one fourth of the 2805 epilepsy cases occurred in the first year of life. In that period, birth weight standardized incidence rate ratios for epilepsy were 1.3 for birth at 42 weeks and 2.0 for birth at > or = 43 weeks, compared with birth at 39 to 41 weeks. Among children who were delivered by cesarean section, incidence rate ratios adjusted for birth weight, presentation, malformations, and county were 1.4 for birth at 42 completed weeks and 4.9 for birth at > or = 43 weeks, compared with term vaginal births. There was a similar tendency among children who were delivered with the assistance of instruments. We found no evidence for the association between postterm delivery and risk for epilepsy beyond the first year of life. Prolonged gestation is a risk factor for early epilepsy; the added increase in risk for instrument-assisted and cesarean deliveries could be attributable to factors that are related to both birth complications and epilepsy.

  19. [Neuropsychology and epilepsy].

    Science.gov (United States)

    Campos-Castelló, J; Campos-Soler, S

    The epileptic child has three times more risk of presenting cognitive disorders than other children with no neurological pathology, in accordance with three essential facts: 1. The effect exerted by the actual epilepsy. 2. Any associated previously-existing neuropsychosocial deficits. 3. The side effects of the antiepileptic drug (AED). A certain amount of deterioration is universally accepted, without defining the factors involved in its production, but which are multifactorial according to computer studies. From this point of view, we analyse the relation between neuropsychology and epilepsy in Paediatrics. The relation between epilepsy and behaviour must be seen as an exception and not the rule, unless there are coexisting personality disorders and/or mental deficiency. The cognitive effects of AED depend on the drug, the doses used and on the polypharmacy, and these effects may be both adverse and beneficial. The differences from one drug to another are questionable due to the methodology used in the different studies and it should be remembered that with suitable doses the side effects are generally moderate, and AED monitoring is useful in this case. We recommend the use of MEDDRA assessment to obtain a more reliable definition of side effects, which in turn will allow them to be better evaluated. Scaling time in the introduction of the drug is important, especially with some of the new AED. The mechanisms governing the production of the side effects vary, but both the classical and the new ones, which are well used owing to the greater knowledge we have of their mechanism of action, improve cognitive functioning by controlling the seizures. In infancy, idiopathic cognitive reactions are produced. In childhood, the main disorders are a diminished reaction and information processing time with alterations affecting memory, attention and language. Epilepsy is associated to a number of different, generally mild, cognitive problems. The age of onset of epilepsy

  20. Prevalence and characteristics of visual aura in idiopathic generalized epilepsy.

    Science.gov (United States)

    Gungor-Tuncer, Ozlem; Baykan, Betul; Altindag, Ebru; Bebek, Nerses; Gurses, Candan; Gokyigit, Aysen

    2012-12-01

    Some patients with idiopathic/genetic generalized epilepsy (IGE) experience visual aura, which can confuse the diagnosis. We sought to determine the frequency and characteristics of visual auras in IGE patients. Among the 176 IGE patients, 4 men and 7 women reported visual auras (mean age - 24 years). Syndromic diagnoses were juvenile myoclonic epilepsy in four, eyelid myoclonia with absences (EMA) in three, juvenile absence epilepsy in three, and other in one. Visual auras consisted of flashing lights, macropsia, illusional movements, and blindness. Eyelid myoclonia with absences was significantly more common in the group with visual aura (3 of 11 patients vs. 8 of 165 IGE patients; P=0.02). Furthermore, photosensitivity was found significantly more common in IGE patients with visual aura (90% vs 46% of the total IGE patients) (P=0.004). In conclusion, the visual auras do not exclude a diagnosis of IGE. The presence of visual aura in the EMA syndrome is also remarkable. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. 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.

  2. Epilepsy audit: do we document everything?

    LENUS (Irish Health Repository)

    Iqbal, M

    2012-02-01

    BACKGROUND: An audit of the hospital notes and letters of patients with epilepsy sent to general practitioners was undertaken. AIMS: (a) To examine the frequency of important omissions in history taking and role of precipitants in seizure control, (b) to determine whether appropriate investigations had been performed and their results, (c) to assess whether letters sent to GPs contain all the appropriate information and advice, and to evaluate the waiting time for out-patient clinics and investigations. METHODS: This retrospective study was conducted in a teaching hospital setting. A computerised search of the clinical database of a consultant neurologist was performed on patients with epilepsy. The notes of the first 100 names selected randomly by the computer were analysed. The study period was during the years 1998-2005. Age range was from 17-72 years. The male:female ratio was 1:1. CONCLUSION: Major deficiencies in documentation were identified in this study.

  3. International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs.

    Science.gov (United States)

    Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J J; DeRisio, Luisa; Berendt, Mette; Rusbridge, Clare; Bhatti, Sofie F M; Pakozdy, Akos; Patterson, Edward E; Platt, Simon; Packer, Rowena M A; Volk, Holger A

    2015-08-28

    Canine idiopathic epilepsy is a common neurological disease affecting both purebred and crossbred dogs. Various breed-specific cohort, epidemiological and genetic studies have been conducted to date, which all improved our knowledge and general understanding of canine idiopathic epilepsy, and in particular our knowledge of those breeds studied. However, these studies also frequently revealed differences between the investigated breeds with respect to clinical features, inheritance and prevalence rates. Awareness and observation of breed-specific differences is important for successful management of the dog with epilepsy in everyday clinical practice and furthermore may promote canine epilepsy research. The following manuscript reviews the evidence available for breeds which have been identified as being predisposed to idiopathic epilepsy with a proven or suspected genetic background, and highlights different breed specific clinical features (e.g. age at onset, sex, seizure type), treatment response, prevalence rates and proposed inheritance reported in the literature. In addition, certain breed-specific diseases that may act as potential differentials for idiopathic epilepsy are highlighted.

  4. 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

  5. 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.

  6. Electroencephalography in dogs with epilepsy

    DEFF Research Database (Denmark)

    Berendt, Martin Ole; Høgenhaven, H; Flagstad, Annette Borgbjerg

    1999-01-01

    To investigate the diagnostic value of electroencephalography (EEG) in dogs with epilepsy, applying human criteria for EEG abnormalities observed with this disorder.......To investigate the diagnostic value of electroencephalography (EEG) in dogs with epilepsy, applying human criteria for EEG abnormalities observed with this disorder....

  7. Epilepsy and Comorbid Mental Retardation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-08-01

    Full Text Available Preventable and unpreventable causes of childhood-onset epilepsy associated with mental retardation were determined in 692 patients with epilepsy onset between 1977 and 1985 in a Nova Scotia population-based cohort studied in the Department of Pediatrics, Dalhousie University, Halifax, Canada.

  8. Novel approaches to epilepsy treatment

    DEFF Research Database (Denmark)

    Sørensen, Andreas T; Kokaia, Merab

    2013-01-01

    The aim of epilepsy treatment is to achieve complete seizure freedom. Nonetheless, numerous side effects and seizure resistance to antiepileptic drugs (AEDs) affecting about 30-40% of all patients are main unmet needs in today's epileptology. For this reason, novel approaches to treat epilepsy ar...

  9. Intracranial Vascular Malformations and Epilepsy.

    Science.gov (United States)

    Josephson, Colin B; Rosenow, Felix; Al-Shahi Salman, Rustam

    2015-06-01

    Among the spectrum of intracranial vascular malformations (IVMs), arteriovenous malformations (AVMs), and cavernous malformations (CCMs) are of particular importance for epilepsy. Seizures are a common mode of presentation for both conditions. Seizures may occur de novo or secondary to intracerebral hemorrhage. Timely imaging is thus crucial for patients with seizures and AVMs or CCMs. Patients with a first-ever AVM- or CCM-related seizure can now be considered to have epilepsy according to the International League Against Epilepsy criteria. Observational studies and case series suggest that between 45 to 78% of patients with AVM-related epilepsy and 47 to 60% of patients with CCM-related epilepsy may achieve seizure freedom through antiepileptic drugs (AEDs) alone. Invasive procedures are available although current evidence suggests that epilepsy-specific preintervention evaluations are underused. Randomized controlled trials and population-based studies have demonstrated worse short-term functional outcomes after routine intervention on unruptured AVMs or CCMs when compared with conservative management. The role of invasive therapy for IVM-related epilepsy has yielded mixed results. Case series have reported high estimates of seizure freedom although these results have not been replicated in controlled observational studies. Randomized controlled trials of immediate invasive therapy versus conservative management, in addition to usual care with AEDs and of different types of treatment and their timing, are warranted for AVMs and CCM-related epilepsy. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  10. Partial Epilepsy with Auditory Features

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-07-01

    Full Text Available The clinical characteristics of 53 sporadic (S cases of idiopathic partial epilepsy with auditory features (IPEAF were analyzed and compared to previously reported familial (F cases of autosomal dominant partial epilepsy with auditory features (ADPEAF in a study at the University of Bologna, Italy.

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

    DEFF Research Database (Denmark)

    Jonasson, Charlotte

    2011-01-01

    of a single school conducted over a continuous six-month period. It used participant observation followed by semi-structured interviews and school documents. Results: Findings suggest that student absence consists of interrelated forms of absence behaviour that have specific consequences for student......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 which...... different forms of absence are interrelated provides important novel insights into student absence behaviour. Purpose: The purpose of this exploratory study is to examine the concept of absence and the way absence behaviour is developed. This may help to provide a basis for further research on how and when...

  12. Postoperative adverse outcomes in surgical patients with epilepsy: a population-based study.

    Science.gov (United States)

    Chang, Chuen-Chau; Hu, Chaur-Jong; Lam, Fai; Chang, Hang; Liao, Chien-Chang; Chen, Ta-Liang

    2012-06-01

    People with epilepsy are more likely than healthy people to experience comorbidities and complications in various medical situations. However, the prevalence of postoperative complications, mortality, and use of medical resources in surgical patients with epilepsy has not been studied. The purpose of this study is to examine whether epilepsy is an independent risk factor for postoperative adverse outcomes of patients receiving major surgery. Retrospective cohort study using the National Health Insurance Research Database to identify patients with epilepsy who underwent major surgery in Taiwan between the years 2004 and 2007. For each case, four age- and sex-matched participants without epilepsy were included. Preoperative comorbidities in the 24 months before surgery were identified. Eight major postoperative complications, overall 30-day mortality, and in-hospital utilization of medical resources (including length of hospital stay, percentage of postoperative intensive care unit admissions, and in-hospital medical expenditures) served as the major outcome measurements. Comorbidities, status of receiving renal dialysis, teaching hospital status, types of surgery, and patients living in urban or rural areas were adjusted by multivariate logistic regression. A total of 13,103 participants with epilepsy and 52,412 without were included. Patients with epilepsy have significantly more preoperative comorbidities and demonstrated more risks of any postoperative complications (odds ratio 2.02, 95% confidence interval 1.90-2.14). Consumption of in-hospital medical resources was also significantly higher in patients with epilepsy, but no significant differences in postoperative mortality rates between the two groups were noted. Stroke was identified as the most significant postoperative complication for surgical patients with epilepsy. Patients, especially those with previous hospitalization or emergency visits due to the disease, confronted significantly higher

  13. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

    Science.gov (United States)

    Fragaki, Konstantina; Ait-El-Mkadem, Samira; Chaussenot, Annabelle; Gire, Catherine; Mengual, Raymond; Bonesso, Laurent; Bénéteau, Marie; Ricci, Jean-Ehrland; Desquiret-Dumas, Valérie; Procaccio, Vincent; Rötig, Agnès; Paquis-Flucklinger, Véronique

    2013-05-01

    We report two children, born from consanguineous parents, who presented with early-onset refractory epilepsy associated with psychomotor delay, failure to thrive, blindness and deafness. Polarographic and spectrophotometric analyses in fibroblasts and liver revealed a respiratory chain (RC) dysfunction. Surprisingly, we identified a homozygous nonsense mutation in the GM3 synthase gene by using exome sequencing. GM3 synthase catalyzes the formation of GM3 ganglioside from lactosylceramide, which is the first step in the synthesis of complex ganglioside species. Mass spectrometry analysis revealed that the complete absence of GM3 ganglioside and its biosynthetic derivatives was associated with an upregulation of the alternative globoside pathway in fibroblasts. The accumulation of Gb3 and Gb4 globosides likely has a role in RC dysfunction and in the decrease of mitochondrial membrane potential leading to apoptosis, which we observed in fibroblasts. We show for the first time that GM3 synthase deficiency, responsible for early-onset epilepsy syndrome, leads to a secondary RC dysfunction. Our study highlights the role of secondary mitochondrial disorders that can interfere with the diagnosis and the evolution of other metabolic diseases.

  14. 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.

  15. 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.

  16. [Definition and classification of epilepsy].

    Science.gov (United States)

    Jibiki, Itsuki

    2014-05-01

    The concept or definition of epilepsy was mentioned as a chronic disease of the brain consisting of repetitions of EEG paroxysm and clinical seizures caused by excessive discharges of the cerebral neurons, in reference with Gastaut's opinion and the other statements. Further, we referred to diseases to be excluded from epilepsy such as isolated, occasional and subclinical seizures and so on. Next, new classifications of seizures and epilepsies were explained on the basis of revised terminology and concepts for organization of seizures and epilepsies in Report of the ILAE Communication in Classification and Terminology, 2005-09, in comparison with the Classification of Epileptic Seizures in 1981 and the Classification of Epilepsies and Epileptic Syndromes in 1989.

  17. 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

  18. 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....

  19. 38 CFR 4.122 - Psychomotor epilepsy.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Psychomotor epilepsy. 4... 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...

  20. Progressive myoclonus epilepsy in Down syndrome patients with dementia.

    Science.gov (United States)

    d'Orsi, Giuseppe; Specchio, Luigi M

    2014-08-01

    This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological, neurophysiological, and neuroradiological study. The kariotypes, APOE polymorphisms, all exons in the PSEN1 and PSEN2 genes, and exons 16 and 17 in the APP gene were determined for all patients. CSF Aβ42, p-tau181, and t-tauAg were determined for two patients. Three main stages appeared during the course of the syndrome. The first stage was characterized by dementia onset (mean age: 51 ± 6.6 years), diffuse EEG abnormalities during sleep, and cerebral atrophy determined using neuroimaging. During the second stage, myoclonic epilepsy manifested (mean age: 51.4 ± 7.2 years) with myoclonic jerks time-locked to diffuse epileptiform abnormalities upon awakening, which was controlled with antiepileptic drugs. During the third stage (mean age: 54.8 ± 7.6 years), myoclonic seizures were replaced with nonepileptic myoclonus, and cerebellar signs, severe dementia, and photosensitivity developed. All patients showed complete trisomy 21. Mutations were ruled out on the APP, PSEN1, and PSEN2 genes, and APOE analysis revealed ε3/ε3 homozygosity. CSF biomarkers showed a decrease in Aβ42 and an increase in p-tau181. The natural history of senile myoclonic epilepsy is consistent with progressive myoclonus epilepsy. Chromosome 21 is implicated in its pathophysiology; however, other genetic and/or environmental risk factors cannot be excluded. The absence of the APOE type 4 allele could predict its progression.

  1. 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

  2. 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.

  3. Precision medicine in genetic epilepsies: break of dawn?

    Science.gov (United States)

    Reif, Philipp Sebastian; Tsai, Meng-Han; Helbig, Ingo; Rosenow, Felix; Klein, Karl Martin

    2017-04-01

    Therapy with current antiepileptic drugs aims at reducing the likelihood of seizure occurrence rather than influencing the underlying disease process. Therefore, antiepileptic drugs have an anticonvulsant rather than antiepileptic property. Areas covered: The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptogenic process and allows for the possibility of directed therapeutic approaches. An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant. In this review we will describe the current precision medicine approaches in genetic epilepsies in reference to the identified genetic etiologies. References for this review were identified through searches of PubMed and the authors' own files. Expert commentary: Currently established or investigated precision medicine treatments include the ketogenic diet in patients with GLUT1 deficiency, sodium channel blockers in patients with KCNQ2, SCN2A and SCN8A mutations as well as mTOR-inhibitors in mTORopathies. These predominantly represent already available treatments that were repurposed for use in epilepsy. The development of new therapeutic agents aiming at targets identified in genetic epilepsies will advance epilepsy treatment considerably.

  4. Juvenile myoclonic epilepsy and narcolepsy: A series of three cases.

    Science.gov (United States)

    Joshi, Puja Aggarwal; Poduri, Annapurna; Kothare, Sanjeev V

    2015-10-01

    This paper sets out to demonstrate the coexistence of juvenile myoclonic epilepsy (JME) and narcolepsy that raises the possibility of a shared genetic predisposition to both conditions. The electronic medical records (EMRs) were searched for narcolepsy and JME over 10years. We identified three young adult women diagnosed with JME in their teenage years, with myoclonic, generalized tonic-clonic, and absence seizure semiologies, along with psychiatric comorbidity, well managed on lamotrigine and/or levetiracetam. Our patients were also found to have disturbed sleep preceding the diagnosis of JME by many years, including excessive daytime sleepiness (EDS), fragmented nocturnal sleep, hypnagogic vivid hallucinations, and REM behavior disorder along with daytime cataplexy. They were ultimately diagnosed with coexisting narcolepsy, confirmed by sleep studies and multiple sleep latency testing, along with positive genetic testing for HLA-DQB1*0602 in all three patients. Stimulants, selective serotonin receptor inhibitors, and/or sodium oxybate were used to successfully treat their narcolepsy. The coexistence of JME and narcolepsy has not been well recognized and may be clinically relevant. In addition, it raises the possibility of a shared genetic predisposition to both conditions. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. 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 epilepsy surgery performed at the Vienna pediatric epilepsy center, histologically proven MCD, complete follow-up data for at least 12 months. Clinical variables evaluated: type and localization of MCD, type of surgery and a variety of clinical characteristics reported to be associated with (un-)favorable outcomes. MCD were classified following the existing 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

  6. The health care journeys experienced by people with epilepsy in Ireland: what are the implications for future service reform and development?

    LENUS (Irish Health Repository)

    Varley, J

    2011-02-01

    Opportunities exist to significantly improve the quality and efficiency of epilepsy care in Ireland. Historically, epilepsy research has focused on quantitative methodologies that often fail to capture the invaluable insight of patient experiences as they negotiate their health care needs. Using a phenomenological approach, we conducted one-to-one interviews with people with epilepsy, reporting on their understanding of their health care journey from onset of symptoms through to their first interaction with specialist epilepsy services. Following analysis of the data, five major themes emerged: delayed access to specialist epilepsy review; uncertainty regarding the competency and function of primary care services; significant unmet needs for female patients with epilepsy; disorganization of existing epilepsy services; and unmet patient information needs. The findings reveal important insights into the challenges experienced by people with epilepsy in Ireland and identify the opportunities for future service reorganization to improve the quality and efficiency of care provided.

  7. The health care journeys experienced by people with epilepsy in Ireland: what are the implications for future service reform and development?

    LENUS (Irish Health Repository)

    Varley, J

    2012-02-01

    Opportunities exist to significantly improve the quality and efficiency of epilepsy care in Ireland. Historically, epilepsy research has focused on quantitative methodologies that often fail to capture the invaluable insight of patient experiences as they negotiate their health care needs. Using a phenomenological approach, we conducted one-to-one interviews with people with epilepsy, reporting on their understanding of their health care journey from onset of symptoms through to their first interaction with specialist epilepsy services. Following analysis of the data, five major themes emerged: delayed access to specialist epilepsy review; uncertainty regarding the competency and function of primary care services; significant unmet needs for female patients with epilepsy; disorganization of existing epilepsy services; and unmet patient information needs. The findings reveal important insights into the challenges experienced by people with epilepsy in Ireland and identify the opportunities for future service reorganization to improve the quality and efficiency of care provided.

  8. JUVENILE MYOCLONIC EPILEPSY: A FOCUS ON THE EFFICACY OF THERAPY AND THE RATE OF RELAPSES ACCORDING TO LONG-TERM FOLLOW-UP DATA

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available Juvenile myoclonic epilepsy (JME is a type of adolescent-onset idiopathic generalized epilepsy with the appearance of massive myoclonic seizures and, in most cases, generalized convulsions occurring chiefly in the period after awakening. It is assumed that there is a two-locus (dominant and recessive model of inheritance of JME; moreover, the dominant gene is located on the short arm of chromosome 6. JME is one of the most common types of epilepsy and most frequent among idiopathic generalized epilepsies. Its rate is 5 to 11 % of all types of epilepsy with some female predominance. The diagnosis of JME creates no problems in typical cases. The disease is generally manifested by a concurrence of myoclonic (usually in the hands and generalized clonic-tonic-clonic seizures occurring during waking. Typical absences and epileptic myoclonus of the eyelid are rarer. Seizures are clearly provoked by sleep deprivation. As in other types of idiopathic epilepsy, the patients’ neurological status is normal; no intellectual disabilities are observed. This type of epilepsy is well treatable and, when initial monotherapy is correctly used, sustainable remission occurs immediately in the vast majority (75–85 % of the patients with JME. However, the problem of these patients, unlike that of patients with many forms of idiopathic epilepsy, is that sleep pattern disturbance, missing a dose of antiepileptic drugs (AED, or therapy refusal give rise to relapse of seizures in the vast majority of patients even in long-term remission.Due to the fact that the data available in the literature on the efficacy of therapy in patients with JME and particularly on the results of its discontinuation are contradictory, the authors of the paper conducted an investigation to determine therapeutic effectiveness and the frequency of relapse of seizures in patients with JME during a long-term follow-up.The study enrolled 106 JME patients who had been regularly followed up at

  9. 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.

  10. Identifying factors relevant in the assessment of return-to-work efforts in employees on long-term sickness absence due to chronic low back pain: a focus group study

    Directory of Open Access Journals (Sweden)

    Muijzer Anna

    2012-01-01

    Full Text Available Abstract Background Efforts undertaken during the return to work (RTW process need to be sufficient to prevent unnecessary applications for disability benefits. The purpose of this study was to identify factors relevant to RTW Effort Sufficiency (RTW-ES in cases of sick-listed employees with chronic low back pain (CLBP. Methods Using focus groups consisting of Labor Experts (LE's working at the Dutch Social Insurance Institute, arguments and underlying grounds relevant to the assessment of RTW-ES were investigated. Factors were collected and categorized using the International Classification of Functioning, Disability and Health (ICF model. Results Two focus groups yielded 19 factors, of which 12 are categorized in the ICF model under activities (e.g. functional capacity and in the personal (e.g. age, tenure and environmental domain (e.g. employer-employee relationship. The remaining 7 factors are categorized under intervention, job accommodation and measures. Conclusions This focus group study shows that 19 factors may be relevant to RTW-ES in sick-listed employees with CLBP. Providing these results to professionals assessing RTW-ES might contribute to a more transparent and systematic approach. Considering the importance of the quality of the RTW process, optimizing the RTW-ES assessment is essential.

  11. 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

  12. Epilepsy misconceptions and stigma reduction: Current status in Western countries.

    Science.gov (United States)

    Herrmann, Lynn K; Welter, Elisabeth; Berg, Anne T; Perzynski, Adam T; Van Doren, Jamie R; Sajatovic, Martha

    2016-07-01

    This systematized literature review identified reports describing epilepsy misconceptions in the developed Western countries and research interventions focused on reducing these misconceptions. English language publications from January 2004 to January 2015 that described original research conducted in Europe, North/Central/South America, or Australia on misconceptions about epilepsy among the general public were used for this review. Eighty-one publications were selected. Most studies were conducted in the Americas (N=30) and Europe (N=31). Misconceptions and attitudes about epilepsy were assessed among clinical providers (N=9), family members of people with epilepsy (PWE) (N=5), teachers (N=11), students (N=22), and the general public (N=25). Most studies used structured questionnaires, sometimes adding open-ended questions. Misconceptions reflected socially exclusionary attitudes directed at PWE, ignorance about treatment, and overgeneralizations that are stigmatizing when applied to all PWE. Misconceptions were more prevalent in those with less education, lower socioeconomic status, and no exposure to PWE. There were only 12 intervention studies. While intervention studies were generally effective in improving attitudes, many were targeted to healthcare and education settings, were time-intensive, and impractical for broad general population implementation. None incorporated newer technology-based strategies regarding effective health communication approaches. Types of epilepsy misconceptions were similar in reports published over the last decade, although most referred to misconceptions that have already been previously described. Existing questionnaires may fail to identify more subtle forms of current misconceptions and negative attitudes. Few interventional studies specifically target epilepsy stigma. Practical and broad scalable approaches to destigmatize epilepsy may help reduce misconceptions. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Antiarrhythmic drugs and epilepsy.

    Science.gov (United States)

    Borowicz, Kinga K; Banach, Monika

    2014-08-01

    For a long time it has been suspected that epilepsy and cardiac arrhythmia may have common molecular background. Furthermore, seizures can affect function of the central autonomic control centers leading to short- and long-term alterations of cardiac rhythm. Sudden unexpected death in epilepsy (SUDEP) has most likely a cardiac mechanism. Common elements of pathogenesis create a basis for the assumption that antiarrhythmic drugs (AADs) may affect seizure phenomena and interact with antiepileptic drugs (AEDs). Numerous studies have demonstrated anticonvulsant effects of AADs. Among class I AADs (sodium channel blockers), phenytoin is an established antiepileptic drug. Propafenone exerted low anti-electroshock activity in rats. Lidocaine and mexiletine showed the anticonvulsant activity not only in animal models, but also in patients with partial seizures. Among beta-blockers (class II AADs), propranolol was anticonvulsant in models for generalized tonic-clonic and complex partial seizures, but not for myoclonic convulsions. Metoprolol and pindolol antagonized tonic-clonic seizures in DBA/2 mice. Timolol reversed the epileptiform activity of pentylenetetrazol (PTZ) in the brain. Furthermore, amiodarone, the representative of class III AADs, inhibited PTZ- and caffeine-induced convulsions in mice. In the group of class IV AADs, verapamil protected mice against PTZ-induced seizures and inhibited epileptogenesis in amygdala-kindled rats. Verapamil and diltiazem showed moderate anticonvulsant activity in genetically epilepsy prone rats. Additionally, numerous AADs potentiated the anticonvulsant action of AEDs in both experimental and clinical conditions. It should be mentioned, however, that many AADs showed proconvulsant effects in overdose. Moreover, intravenous esmolol and intra-arterial verapamil induced seizures even at therapeutic dose ranges. Copyright © 2014 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier Urban & Partner Sp. z o

  14. Review of systems questionnaire helps differentiate psychogenic nonepileptic seizures from epilepsy.

    Science.gov (United States)

    Asadi-Pooya, Ali A; Rabiei, Amin H; Tinker, Jennifer; Tracy, Joseph

    2016-12-01

    We investigated the utility of a very brief review of system (ROS) questionnaire in differentiating psychogenic nonepileptic seizures (PNES) from epilepsy. In this retrospective study, we investigated all patients with PNES admitted to Jefferson Comprehensive Epilepsy Center from October 2013 through April 2015. Patients with a confirmed diagnosis of PNES or epilepsy based on video-EEG monitoring were included. These were matched with respect to age and sex. All patients had a brief ROS questionnaire in their electronic charts. The questionnaire included 10 general yes/no questions about the presence or absence of any abnormality in body systems. Thirty patients with PNES and 30 patients with epilepsy were investigated. The mean of ROS responses for the presence of any abnormality (±standard deviation) for the PNES group was 2.43 (±1.33) and for the epilepsy group was 1.50 (±0.94) (p=0.01). Cut-off point of three positive ROS was able to differentiate these two conditions from each another (p=0.01; OR: 6, 95% confidence interval: 1.48-24.29). Presence of multiple complaints in the ROS questionnaire argues in favor of PNES compared with epilepsy. This brief and easy to apply ROS questionnaire may be used as a valuable ancillary tool to differentiate PNES from epilepsy during the initial screening visit. This may help prevent the delay in making the diagnosis. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: a population-based study.

    Science.gov (United States)