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Sample records for absence epilepsy identifies

  1. Epilepsy with myoclonic absences.

    Science.gov (United States)

    Manonmani, V; Wallace, S J

    1994-04-01

    The cases are described of eight children, five of them girls, who had epilepsy with myoclonic absences. The mean age of onset was 4.9 years. Brief episodes of loss of awareness with bilateral clonic jerking of the upper limbs were associated with rhythmic 3 cycles/second spike-wave discharges on electroencephalogram. Generalised tonic-clonic or astatic seizures, or both, also occurred in seven patients. All now have learning difficulties, and seven have behavioural problems. Conventional treatment for absences was effective in only two children. Of six patients treated with lamotrigine, five have improved substantially, but only one is in sustained complete remission. One recently diagnosed patient continues to have frequent myoclonic absences. As the response to treatment and long term outcome are much poorer, it is important to differentiate myoclonic absences from typical childhood absence epilepsy.

  2. 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, es

  3. 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, es

  4. [Absence epilepsy models in rodents].

    Science.gov (United States)

    Eguibar, José R; Cortés, M del Carmen

    2010-01-01

    Animal models are a useful tool because it is possible to perform neuroanatomical, electrophysiological and pharmacological studies throughout their development. The most common models for experimental studies of absence seizures are the GAERS (Genetic Absence Epilepsy rat from Strasbourg) and the WAG/Rij (Wistar Absence Glaxo from Rijswik) rats. In WAG/RU rats it has been demonstrated that the perioral region in the somatosensorial cortex shows a zone with hyperexcitability which is the origin of spike wave discharges (SWD). In fact, this cortical area shows modifications in sodium channels which increase the excitability of cortical neurons; for this reason, local application of phenytoin or lidocaine, which block sodium channels, reduce SWD. Ethosuximide decreases and pentylenetetrazol increases SWD in GAERS and WAG/Rij rats. At the Institute of Physiology in the Benemérita Autonomous University of Puebla we have obtained a myelin mutant rat called "taiep", which is the acronym of tremor, ataxia, immobility episodes, epilepsy, and paralysis. This model shows a SWD with higher frequency during awaking periods; the SWD increases with systemic administration of pentylenetetrazol and decreases with ethosuximide. All these findings in animal models are susceptible to be tested in human beings through magneto- and electro-encephalographic recording techniques to discern the source of this type of epilepsy. Thus, in biomedical research, animal models are useful tools to discern the neural and network alterations responsible for the absence seizures, and allow to design of more specific therapeutic options with fewer side effects.

  5. 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...

  6. 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.

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

    Science.gov (United States)

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

    2014-01-01

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

    Science.gov (United States)

    Wirrell, Elaine C

    2003-08-01

    Absence seizures may be seen in a variety of epileptic syndromes in childhood. Identification of the specific syndrome is important to determine medical prognosis. With childhood absence epilepsy, approximately two thirds of children can be expected to enter long-term remission, while in juvenile absence epilepsy, seizure control is often achieved, however, lifelong treatment is usually required. Other absence syndromes have a poorer prognosis, with lower rates of seizure control and remission. Psychosocial outcome is often poor, even in patients with more benign forms of absence epilepsy. Remission of epilepsy does not preclude psychosocial morbidity.

  9. 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...

  10. Epidemiology of absence epilepsy. III. Clinical aspects.

    Science.gov (United States)

    Olsson, I; Hagberg, G

    1991-11-01

    Absence epilepsy was studied in a Swedish population, aged 0-15 years, in 1978-1982. Cases were selected by electroencephalographic criteria. In the 134 children with 3 Hz spike-and-wave discharges, 97 (72.4%) had absences alone or in combination with generalized tonic-clonic seizures (grand mal): 56 had absences alone, 31 absences followed by grand mal, and 10 started with initial grand mal. Two distinct groups could be discerned: 1) childhood absence epilepsy: onset before the age of 12, with a quick response to therapy, little or no risk of grand mal, and a high remission rate; 2) juvenile absence epilepsy: onset at the age of 12 or later, a very high risk of grand mal, and usually a good response to therapy, but a high risk of relapses at withdrawal. This classification of absence epilepsy into subgroups may be useful for prognostic guidelines.

  11. 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

  12. 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 ra

  13. 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.

  14. Childhood Absence Epilepsy Successfully Treated with the Paleolithic Ketogenic Diet

    OpenAIRE

    Clemens, Zsófia; Kelemen, Anna; Fogarasi, András; Tóth, Csaba

    2013-01-01

    Introduction Childhood absence epilepsy is an epilepsy syndrome responding relatively well to the ketogenic diet with one-third of patients becoming seizure-free. Less restrictive variants of the classical ketogenic diet, however, have been shown to confer similar benefits. Beneficial effects of high fat, low-carbohydrate diets are often explained in evolutionary terms. However, the paleolithic diet itself which advocates a return to the human evolutionary diet has not yet been studied in epi...

  15. 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.

    2009-01-01

    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 childr

  16. Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes.

    Science.gov (United States)

    Cerminara, Caterina; Coniglio, Antonella; El-Malhany, Nadia; Casarelli, Livia; Curatolo, Paolo

    2012-01-01

    Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BCECTS), or benign rolandic epilepsy (BRE), are the most common forms of childhood epilepsy. CAE and BCECTS are well-known and clearly defined syndromes; although they are strongly dissimilar in terms of their pathophysiology, these functional epileptic disturbances share many features such as similar age at onset, overall good prognosis, and inheritance factors. Few reports are available on the concomitance of CAE and BCECTS in the same patients or the later occurrence of generalized epilepsy in patients with a history of partial epilepsy. In most cases described in the literature, absence seizures always started after the onset of benign focal epilepsy but the contrary has never occurred yet. We describe two patients affected by idiopathic generalized epileptic syndrome with typical absences, who experienced BCECTS after remission of seizures and normalization of EEG recordings. While the coexistence of different seizure types within an epileptic syndrome is not uncommon, the occurrence of childhood absence and BCECTS in the same child appears to be extremely rare, and this extraordinary event supports the hypothesis that CAE and BCECTS are two distinct epileptic conditions. However, recent interesting observations in animal models suggest that BCECTS and CAE could be pathophysiologically related and that genetic links could play a large role.

  17. 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 comor

  18. 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

    2006-01-01

    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 Ch

  19. Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy.

    Science.gov (United States)

    Camfield, Carol S; Berg, Anne; Stephani, Ulrich; Wirrell, Elaine C

    2014-08-01

    This chapter covers the syndromes of benign epilepsy with centrotemporal spikes (BECTS), nonlesional focal epilepsy in otherwise normal children (NLFN), and the genetic generalized epilepsies. BECTS is an epilepsy syndrome that always enters terminal remission before the general age of a planned transition of adolescents. This is also the case for the majority (65%) of those with childhood absence epilepsy (CAE). Approximately 15% of patients with CAE who initially remit during their childhood years later develop juvenile myoclonic epilepsy (JME) as teenagers. They will have many issues for continuing medical care and transition, because their seizure disorder generally persists into adulthood. A significant minority of NLFN (~35%) and most patients with JME continue to have active epilepsy into adulthood. In addition, CAE, JME, and NLFN patients are at risk of a number of significant adverse social outcomes that require ongoing advice and counseling.

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

    Science.gov (United States)

    Tolmacheva, Elena A; Oitzl, Melly S; van Luijtelaar, Gilles

    2012-05-01

    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 rats, non-epileptic inbred ACI rats and outbred Wistar rats. The WAG/Rij strain is a genetic model for absence epilepsy and comorbidity for depression, which originates from the population of Wistar rats and, therefore, shares their genetic background. In a separate experiment, WAG/Rij rats were exposed to FS on three consecutive days. Electroencephalograms (EEGs) were recorded before and after FS, and the number of absence seizures (spike-wave-discharges, SWDs) was quantified. Both WAG/Rij rats and ACI rats exhibited elevated basal levels of corticosterone and a rapid corticosterone increase in response to acute stress. The WAG/Rij rats also displayed the most rapid normalization of corticosterone during the recovery phase compared to that of ACI and Wistar rats. FS had a biphasic effect on SWDs; an initial suppression was followed by an aggravation of the SWDs. By the third day, this aggravation of seizures was present in the hour preceding FS. This increase in SWDs may arise from anticipatory stress about the upcoming FS. Together, these results suggest that the distinct secretion profile of corticosterone found in WAG/Rij rats may contribute to the severity of the epileptic phenotype. Although the acute stressor results in an initial suppression of SWDs followed by an increase in SWDs, stress prior to a predictable negative event aggravates absences.

  1. Are Absence Epilepsy and Nocturnal Frontal Lobe Epilepsy System Epilepsies of the Sleep/Wake System?

    Science.gov (United States)

    Halász, Péter

    2015-01-01

    System epilepsy is an emerging concept interpreting major nonlesional epilepsies as epileptic dysfunctions of physiological systems. I extend here the concept of reflex epilepsy to epilepsies linked to input dependent physiological systems. Experimental and clinical reseach data were collected to create a coherent explanation of underlying pathomechanism in AE and NFLE. We propose that AE should be interpreted as epilepsy linked to the corticothalamic burst-firing mode of NREM sleep, released by evoked vigilance level oscillations characterized by reactive slow wave response. In the genetic variation of NFLE the ascending cholinergic arousal system plays an essential role being in strong relationship with a gain mutation of the nicotinic acethylcholin receptors, rendering the arousal system hyperexcitable. I try to provide a more unitary interpretation for the variable seizure manifestation integrating them as different degree of pathological arosuals and alarm reactions. As a supporting hypothesis the similarity between arousal parasomnias and FNLE is shown, underpinned by overlaping pathomechanism and shared familiarity, but without epileptic features. Lastly we propose that both AE and NFLE are system epilepsies of the sleep-wake system representing epileptic disorders of the antagonistic sleep/arousal network. This interpretation may throw new light on the pathomechanism of AE and NFLE. PMID:26175547

  2. 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...

  3. 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, t

  4. 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...

  5. 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.

  6. Progress and Outlooks in a Genetic Absence Epilepsy Model (WAG/Rij)

    NARCIS (Netherlands)

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

    2014-01-01

    The WAG/Rij model is a well characterized and validated genetic animal epilepsy model in which the for absence epilepsy highly characteristic spike-wave discharges (SWDs) develop spontaneously. In this review we discuss first some older and many new studies, with an emphasis on pharmacological and n

  7. Amygdala Kindling in the WAG-Rij Rat Model of Absence Epilepsy

    NARCIS (Netherlands)

    Aker, R.G.; Yananli, H.R.; Gurbanova, A.A.; Özkaynakçi, A.E.; Ates, N.; Luijtelaar, E.L.J.M. van; Onat, F.Y.

    2006-01-01

    Summary: Purpose: The kindling model in rats with genetic absence epilepsy is suitable for studying mechanisms involved in the propagation and generalization of seizure activity in the convulsive and nonconvulsive components of epilepsy. In the present study, we compared the amygdala kindling rate a

  8. The role of SCL2A1 in Early Onset and Childhood Absence Epilepsies

    DEFF Research Database (Denmark)

    Brusgaard, Klaus

    Introduction: Early onset absence epilepsy (EOAE) constitutes an idiopathic generalized epilepsy syndrome with typical absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter of the blood-brain barrier (GLUT-1), account for approximately 10% of EOAE......>C) leading to an amino acid exchange (336Leu>Val), the family history was unremarkable. The other EOAE patient with a very early onset of a severe epilepsy phenotype and movement disorder had a base exchange at position c.1189C>T causing a stop codon (p.Q397X) in exon 9. Familial GTCS were reported in his...

  9. The Genetic Absence Epilepsy Rats from Strasbourg model of absence epilepsy exhibits alterations in fear conditioning and latent inhibition consistent with psychiatric comorbidities in humans.

    Science.gov (United States)

    Marks, Wendie N; Cavanagh, Mary E; Greba, Quentin; Cain, Stuart M; Snutch, Terrance P; Howland, John G

    2016-01-01

    Behavioural, neurological, and genetic similarities exist in epilepsies, their psychiatric comorbidities, and various psychiatric illnesses, suggesting common aetiological factors. Rodent models of epilepsy are used to characterize the comorbid symptoms apparent in epilepsy and their neurobiological mechanisms. The present study was designed to assess Pavlovian fear conditioning and latent inhibition in a polygenetic rat model of absence epilepsy, i.e. Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and the non-epileptic control (NEC) strain. Electrophysiological recordings confirmed the presence of spike-wave discharges in young adult GAERS but not NEC rats. A series of behavioural tests designed to assess anxiety-like behaviour (elevated plus maze, open field, acoustic startle response) and cognition (Pavlovian conditioning and latent inhibition) was subsequently conducted on male and female offspring. Results showed that GAERS exhibited significantly higher anxiety-like behaviour, a characteristic reported previously. In addition, using two protocols that differed in shock intensity, we found that both sexes of GAERS displayed exaggerated cued and contextual Pavlovian fear conditioning and impaired fear extinction. Fear reinstatement to the conditioned stimuli following unsignalled footshocks did not differ between the strains. Male GAERS also showed impaired latent inhibition in a paradigm using Pavlovian fear conditioning, suggesting that they may have altered attention, particularly related to previously irrelevant stimuli in the environment. Neither the female GAERS nor NEC rats showed evidence of latent inhibition in our paradigm. Together, the results suggest that GAERS may be a particularly useful model for assessing therapeutics designed to improve the emotional and cognitive disturbances associated with absence epilepsy.

  10. Assessment of the attention impairment in absence epilepsy: comparison of visual and auditory P300.

    Science.gov (United States)

    Duncan, Connie C; Mirsky, Allan F; Lovelace, Christopher T; Theodore, William H

    2009-08-01

    We report an investigation of P300 measures of information processing in patients with generalized epilepsy of the absence type and those with complex partial epilepsy. Studies have demonstrated that absence patients perform more poorly than complex partial patients on behavioral tests of sustained attention (the Continuous Performance Test, or CPT). Duncan [Duncan, C.C., 1988. Application of event-related brain potentials to the analysis of interictal attention in absence epilepsy. In: Myslobodsky, M.S., Mirsky, A.F. (Eds.), Elements of Petit Mal Epilepsy. Peter Lang, New York, pp. 341-364] reported that P300 was significantly reduced in a group of absence patients as compared with healthy controls. The present investigation was undertaken to compare the attention deficit in absence patients to that in complex partial seizure patients. Thus, ERPs were recorded while participants with absence seizure disorder, complex partial seizure disorder, and healthy controls performed auditory and visual versions of the CPT. A significant reduction in the amplitude of P300 on the visual CPT was observed in both groups of seizure patients as compared to controls. In contrast, P300 on the auditory CPT was reduced only in the group with absence seizures. These ERP data support and amplify previous behavioral findings of the impaired capacity of absence patients to mobilize and sustain attentional resources. Auditory sustained attention seems to be more affected by the pathophysiology of absence epilepsy than visual attention. Two possible factors may be involved: (a) There are separate visual and auditory attention systems in the brain, and the latter is more vulnerable than the former [Duncan, C.C., Kosmidis, M.H., Mirsky, A.F., 2005. Closed head injury-related information processing deficits: An event-related potential analysis. Int. J. Psychophysiol. 58, 133-157]; and (b) Auditory processing depends on intact mechanisms in the brainstem, which are dysfunctional in patients

  11. The acute and chronic effect of vagus nerve stimulation in genetic absence epilepsy rats from Strasbourg (GAERS)

    NARCIS (Netherlands)

    S Dedeurwaerdere; K. Vonck; P Hese van; W.J. Wadman; P Boon

    2005-01-01

    PURPOSE: The aim of this study was to evaluate the efficacy of acute and chronic vagus nerve stimulation (VNS) in genetic absence epilepsy rats from Strasbourg (GAERS). This is a validated model for absence epilepsy, characterized by frequent spontaneous absences concomitant with spike and wave disc

  12. Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?

    Science.gov (United States)

    van Luijtelaar, Gilles; Onat, Filiz Yilmaz; Gallagher, Martin J

    2014-12-01

    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, there is a paucity of studies on sex differences in seizure frequency and semiology in patients diagnosed with any absence epilepsy syndrome. Moreover, it is unknown if there are sex differences in the prevalence or expression of atypical absence epilepsy syndromes. Surprisingly, most studies of animal models of absence epilepsy either did not investigate sex differences, or failed to find sex-dependent effects. However, various rodent models for atypical syndromes such as the AY9944 model (prepubertal females show a higher incidence than prepubertal males), BN model (also with a higher prevalence in males) and the Gabra1 deletion mouse in the C57BL/6J strain offer unique possibilities for the investigation of the mechanisms involved in sex differences. Although the mechanistic bases for the sex differences in humans or these three models are not yet known, studies of the effects of sex hormones on seizures have offered some possibilities. The sex hormones progesterone, estradiol and testosterone exert diametrically opposite effects in genetic absence epilepsy and pharmacologically-evoked convulsive types of epilepsy models. In addition, acute pharmacological effects of progesterone on absence seizures during proestrus are opposite to those seen during pregnancy. 17β-Estradiol has anti-absence seizure effects, but it is only active in atypical absence models. It is speculated that the pro-absence action of progesterone, and perhaps also the delayed pro-absence action of testosterone, are mediated through the neurosteroid allopregnanolone and its structural and functional homolog, androstanediol. These two steroids increase extrasynaptic thalamic tonic GABAergic

  13. Identifying Brain Image Level Endophenotypes in Epilepsy

    CERN Document Server

    Cheng, Wei; Tian, Ge; Feng, Jianfeng; Wang, Zhengge; Zhang, Zhiqiang; Lu, GuangMing

    2012-01-01

    A brain wide association study (BWAS) based on the logistic regression was first developed and applied to a large population of epilepsy patients (168) and healthy controls (136). It was found that the most significant links associated with epilepsy are those bilateral links with regions mainly belonging to the default mode network and subcortex, such as amygdala, fusiform gyrus, inferior temporal gyrus, hippocampus, temporal pole, parahippocampal gyrus, insula, middle occipital gyrus, cuneus. These links were found to have much higher odd ratios than other links, and all of them showed reduced functional couplings in patients compared with controls. Interestingly, with the increasing of the seizure onset frequency or duration of illness, the functional connection between these bilateral regions became further reduced. On the other hand, as a functional compensation and brain plasticity, connections of these bilateral regions to other brain regions were abnormally enhanced and became even much stronger with t...

  14. 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....

  15. Metabotropic glutamate receptors in the thalamocortical network: strategic targets for the treatment of absence epilepsy

    NARCIS (Netherlands)

    Ngomba, R.T.; Santolini, I.; Salt, T.E.; Ferraguti, F.; Battaglia, G.; Luijtelaar, E.L.J.M. van

    2011-01-01

    Metabotropic glutamate (mGlu) receptors are positioned at synapses of the thalamocortical network that underlie the development of spike-and-wave discharges (SWDs) associated with absence epilepsy. The modulatory role of individual mGlu receptor subtypes on excitatory and inhibitory synaptic transmi

  16. 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 clini

  17. 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.

  18. EEG-fMRI study of resting-state networks in childhood absence epilepsy

    Directory of Open Access Journals (Sweden)

    ZHENG Ling

    2012-10-01

    Full Text Available Objective To observe the alterations of resting-state brain functional networks in childhood absence epilepsy (CAE using resting-state functional magnetic resonance imaging (fMRI analysis, and to explore the cognitive disorders of children in epileptic seizures. Methods According to case selection criteria, 12 children with absence seizure were selected, from whom 17 fMRI data with generalized slow-wave discharges (GSWD and the matched data without discharges were collected by using electroencephalogram (EEG-fMRI synchronization. Independent component analysis was used to investigate the alterations in different states of 7 resting-state networks including the thalamus, default-mode network, dorsal attention network, central execution network and perceptive networks. Results Paired t-test and correlation analysis were used for statistical analysis. The thalamus showed increased coherence of brain activity in GSWD state, and the increased coherence was positively correlated with the durations of GSWD (r = 0.890, P = 0.000. The default-mode network (r = - 0.706, P = 0.000, dorsal attention network (r = - 0.829, P = 0.000 and central execution network (r = - 0.905, P = 0.000, which dealt with high -grade cognitive functions, showed decreased coherence, and the brain activity coherence in these networks were negatively correlated with GSWD durations. However, none of low-grade perceptive networks was found to have significant alteration in GSWD state. Conclusion The increased coherence of brain activity in the thalamus may be associated with the generation of GSWD in childhood absence epilepsy. Besides the default brain function, the processes of attention and cognitive execution may also be impaired in childhood absence epilepsy, while low-grade perceptive functions may not be greatly impacted. This study may contribute to the understanding of pathophysiological mechanism of impaired consciousness in childhood absence epilepsy.

  19. Age-dependent decline in learning and memory performances of WAG/Rij rat model of absence epilepsy

    OpenAIRE

    Karson Ayşe; Utkan Tijen; Balcı Fuat; Arıcıoğlu Feyza; Ateş Nurbay

    2012-01-01

    RESEARCH Open Access Age-dependent decline in learning and memory performances of WAG/Rij rat model of absence epilepsy Ayşe Karson1*, Tijen Utkan2, Fuat Balcı3, Feyza Arıcıoğlu4 and Nurbay Ateş1 Abstract Recent clinical studies revealed emotional and cognitive impairments associated with absence epilepsy. Preclinical research with genetic models of absence epilepsy however have primarily focused on dysfunctional emotional processes and paid relatively less attention t...

  20. Abnormal benzodiazepine and zinc modulation of GABAA receptors in an acquired absence epilepsy model.

    Science.gov (United States)

    Wu, Jie; Ellsworth, Kevin; Ellsworth, Marc; Schroeder, Katherine M; Smith, Kris; Fisher, Robert S

    2004-07-01

    Brain cholesterol synthesis inhibition (CSI) at a young age in rats has been shown to be a faithful model of acquired absence epilepsy, a devastating condition for which few therapies or models exist. We employed the CSI model to study cellular mechanisms of acquired absence epilepsy in Long-Evans Hooded rats. Patch-clamp, whole-cell recordings were compared from neurons acutely dissociated from the nucleus reticularis of thalamus (nRt) treated and untreated with a cholesterol synthesis inhibitor, U18666A. In U18666A-treated animals, 91% of rats developed EEG spike-waves (SWs). Patchclamp results revealed that although there was no remarkable change in GABAA receptor affinity, both a loss of ability of benzodiazepines to enhance GABAA-receptor responses and an increase of Zn2+ inhibition of GABAA-receptor responses of nRt neurons occurred in Long-Evans Hooded rats previously administered U18666A. This change was specific, since no significant changes were found in neurons exposed to the GABA allosteric modulator, pentobarbital. Taken collectively, these findings provide evidence for abnormalities in benzodiazepine and Zn2+ modulation of GABAA receptors in the CSI model, and suggest that decreased gamma2 subunit expression may underlie important aspects of generation of thalamocortical SWs in atypical absence seizures. The present results are also consistent with recent findings that mutation of the gamma2 subunit of the GABAA receptor changes benzodiazepine modulation in families with generalized epilepsy syndromes.

  1. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

    DEFF Research Database (Denmark)

    Klitten, Laura L; Møller, Rikke S; Nikanorova, Marina

    2011-01-01

    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...

  2. Neonatal sensory deprivation promotes development of absence seizures in adult rats with genetic predisposition to epilepsy.

    Science.gov (United States)

    Sitnikova, Evgenia

    2011-03-04

    Absence epilepsy has age-related onset. In a WAG/Rij rat genetic model, absence seizures appear after puberty and they are increased with age. It is known that (1) epileptic activity in WAG/Rij rats is initiated at the perioral area in the somatosensory cortex; (2) sensory deprivation, i.e., whisker trimming during the critical period of development, could enhance excitatory activity in the somatosensory cortex. It is hypothesized that the cortex may become more excitable after neonatal vibrissae removal, and this may precipitate absence seizures in adult rats. We found that whisker trimming during the first postnatal weeks caused more rapid development of EEG seizure activity in adult WAG/Rij rats. Epileptic discharges in the trimmed rats were more numerous (vs control), showed longer duration and often appeared in desynchronized and drowsy EEG. The number of absence-like spindle-shaped EEG events (spike-wave spindles) in the whisker-trimmed rats was higher than in control, especially during the intermediate sleep state. An age-dependent increase of intermediate sleep state was found in the trimmed rats, but not in the intact animals. We discuss epigenetic factors that can modulate absence epilepsy in genetically prone subjects.

  3. Identifying workers at risk of sickness absence by questionnaire

    NARCIS (Netherlands)

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

    2006-01-01

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

  4. 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

    long-term prognoses, balancing antiepileptic effects and side effects. The electroencephalographic appearance of paroxysms in childhood absence epilepsy is fairly homogeneous, making it feasible to develop patient-independent automatic detection. We implemented a state-of-the-art algorithm...... to investigate the performance of paroxysm detection. Using only a single scalp electroencephalogram channel from 20 patients with a total of 125 paroxysms >2 seconds, 97.2% of paroxysms could be detected with no false detections. This result leads us to recommend further investigations of tiny, one......-channel electroencephalogram systems in an ambulatory setting....

  5. 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.

  6. 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.

  7. 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.

  8. The expression of Fetuin-A in brain tissues of WAG/Rij Rats, genetic rat model of absence epilepsy

    Directory of Open Access Journals (Sweden)

    Ramazan Yüksel

    2015-12-01

    Full Text Available Objective: In the present study, we aimed to determine the Fetuin-A levels in different regions of the brain in absence epileptic Wistar Albino Glaxo/Rijswijk (WAG/Rij rats in order to contribute the identification of new potential biomarkers of the diagnosis, prognosis and follow up the epilepsy treatment. Methods: 1, 3 and 6 months old male WAG/Rij rats (n=21 with absence epilepsy were used in this study. All of the rats were decapitated under anesthesia and their cortex and thalamus tissues were isolated. Fetuin-A levels of the groups were determined by Western Blot method by using standard techniques and differences between densities of the groups were compared. Results: According to data obtained, there was no Fetuin-A expression in brain cortex and thalamus tissues of WAG/Rij rats with absence epilepsy. Conclusion: In this study, it was shown that Fetuin-A is not expressed in brain cortex and thalamus tissues of WAG/Rij rats with absence epilepsy throughout the age-related development. By evaluating the findings obtained, extensive researches that contain molecular and histological methods must be planned, Fetuin-A findings that are obtained experimentally must be confirmed. J Clin Exp Invest 2015; 6 (4: 387-390

  9. The ovarian hormones and absence epilepsy: a long-term EEG study and pharmacological effects in a genetic absence epilepsy model.

    Science.gov (United States)

    van Luijtelaar, G; Budziszewska, B; Jaworska-Feil, L; Ellis, J; Coenen, A; Lasoń, W

    2001-09-01

    In the first experiment, the relationship between the phase of the estrous cycle and the number of spontaneously occurring spike-wave discharges was investigated in WAG/Rij rats, a model for generalized absence epilepsy. The electroencephalogram (EEG) was continuously recorded for 96 h in eight rats chronically equipped with cortical EEG electrodes. A circadian pattern emerged for the number of spike-wave discharges: a nadir during the first hours of the light period, and an acrophase during the first hours of the dark period. This daily maximum was increased at proestrus day compared with the other days of the cycle, when the plasma level of progesterone is enhanced specifically at these hours of this day. This suggests that progesterone enhances spike-wave discharges. There was no difference in the first few hours of the light period in the number of spike-wave discharges between proestrus and the three other days, suggesting that estradiol has no effect on spike-wave discharges. In the second study, the effects of the systemic administration of progesterone and 17 beta-estradiol on spike-wave discharges and spontaneous behavior were investigated. It was shown that progesterone (20 and 30 mg/kg) but not estradiol (0.17-1.5 mg/kg) increased the number and total duration of spike-wave discharges. On the other hand, injection of RU 38486 (10 and 30 mg/kg), an antagonist of intracellular progesterone receptors, had no effect on spike-wave discharges and did not block the stimulatory effect of progesterone. The antagonist of 17 beta-estradiol tamoxifen (1 and 3 mg/kg) did not evoke alterations in the number or duration of spike-wave discharges. Our results indicate that progesterone aggravates spike-wave discharges, but is not mediated through intracellular receptors. Since progesterone is rapidly metabolized in the brain to the positive modulator of GABA(A) receptor allopregnanolone, which increases spike-wave discharges in WAG/Rij rats, it is possible that the

  10. Differentiating Interictal and Ictal States in Childhood Absence Epilepsy through Permutation Rényi Entropy

    Directory of Open Access Journals (Sweden)

    Nadia Mammone

    2015-07-01

    Full Text Available Permutation entropy (PE has been widely exploited to measure the complexity of the electroencephalogram (EEG, especially when complexity is linked to diagnostic information embedded in the EEG. Recently, the authors proposed a spatial-temporal analysis of the EEG recordings of absence epilepsy patients based on PE. The goal here is to improve the ability of PE in discriminating interictal states from ictal states in absence seizure EEG. For this purpose, a parametrical definition of permutation entropy is introduced here in the field of epileptic EEG analysis: the permutation Rényi entropy (PEr. PEr has been extensively tested against PE by tuning the involved parameters (order, delay time and alpha. The achieved results demonstrate that PEr outperforms PE, as there is a statistically-significant, wider gap between the PEr levels during the interictal states and PEr levels observed in the ictal states compared to PE. PEr also outperformed PE as the input to a classifier aimed at discriminating interictal from ictal states.

  11. Progress and outlooks in a genetic absence epilepsy model (WAG/Rij).

    Science.gov (United States)

    van Luijtelaar, G; Zobeiri, M

    2014-01-01

    The WAG/Rij model is a well characterized and validated genetic animal epilepsy model in which the for absence epilepsy highly characteristic spike-wave discharges (SWDs) develop spontaneously. In this review we discuss first some older and many new studies, with an emphasis on pharmacological and neurochemical studies towards the role of GABA and glutamate and the ion channels involved in the pathological firing patterns. Next, new insights and highlights from the last 5-10 years of reaearch in WAG/Rij rats are discussed. First, early environmental factors modulate SWD characteristics and antiepileptogenesis is possible. Also new is that the classically assumed association between sleep spindles and SWDs seems no longer valid as an explanatory role for the occurrence of SWDs in the genetic rodent models. A role of cortical and thalamic glial cells has been revealed, indicating a putative role for inflammatory cytokines. Neurophysiologic and signal analytical studies in this and in another rodent model (GAERS) point towards a cortical site of origin, that SWDs do not have a sudden onset, and propose a more important role for the posterior thalamus than was previously assumed. Finally it is proposed that the reticular nucleus of the thalamus might be heterogeneous with respect to its role in propagation and maintenance of SWDs. The presence of a well-established cortical region in which SWDs are elicited allows for research towards new non-invasive treatment options, such as transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS). The first results show the feasibility of this new approach.

  12. Epilepsy

    Science.gov (United States)

    ... of epilepsy medicines Use of alcohol or other recreational drugs Other considerations: People with epilepsy should wear medical ... panel Dementia Diabetes Encephalitis Head injury - first aid HIV/AIDS Meningitis Neurosyphilis Phenylketonuria Prerenal azotemia Seizures Stroke ...

  13. Epilepsy

    Science.gov (United States)

    ... sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many ... sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many ...

  14. 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, ...

  15. Benzodiazepine amplification of valproate teratogenic effects in children of mothers with absence epilepsy.

    Science.gov (United States)

    Laegreid, L; Kyllerman, M; Hedner, T; Hagberg, B; Viggedahl, G

    1993-04-01

    Valproate (VPA) is one of the most frequently used antiepileptic drugs (AEDs). Concern has recently been raised regarding VPA medication during pregnancy and teratogenic effects in the offspring. Both neural tube defects (5, 18, 34) and a constellation of signs termed the fetal valproate syndrome (1, 12) have been reported. Benzodiazepines (BZDs) are also widely used and sometimes as effective adjunctives in AED therapy. Both VPA and BZD have close connections to GABA transmission. Recently, clinical and epidemiological human studies (26, 27, 37, 39), supported by animal studies (17, 24, 40), have indicated that BZDs may act as human teratogens. We report on 7 children with congenital malformations, dysmorphism and abnormal neurological signs from birth. The mothers had well controlled primary generalized absence epilepsy without major seizures during pregnancy. Five children had been exposed to VPA monotherapy and two children to VPA and BZD combined during the first trimester. Those two infants had myelomeningoceles and the most pronounced dysmorphism in the group. We propose that these observations indicate a possible amplifying action of BZDs on VPA teratogenicity. Unrecognized BZD use during pregnancies exposed to VPA may be of importance when estimating the teratogenic risks of VPA therapy.

  16. 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...

  17. 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....

  18. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

    Science.gov (United States)

    Wang, Yimin; Du, Xiaonan; Bin, Rao; Yu, Shanshan; Xia, Zhezhi; Zheng, Guo; Zhong, Jianmin; Zhang, Yunjian; Jiang, Yong-hui; Wang, Yi

    2017-01-01

    Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and lay the foundation to develop molecular specific treatment. However, the molecular basis for a majority of epilepsy patients remains elusive, and furthermore, most of these studies have been conducted in Caucasian children. Here we conducted a targeted exome-sequencing of 63 trios of Chinese epilepsy families using a custom-designed NGS panel that covers 412 known and candidate genes for epilepsy. We identified pathogenic and likely pathogenic variants in 15 of 63 (23.8%) families in known epilepsy genes including SCN1A, CDKL5, STXBP1, CHD2, SCN3A, SCN9A, TSC2, MBD5, POLG and EFHC1. More importantly, we identified likely pathologic variants in several novel candidate genes such as GABRE, MYH1, and CLCN6. Our results provide the evidence supporting the application of custom-designed NGS panel in clinic and indicate a conserved genetic susceptibility for epilepsy between Chinese and Caucasian children. PMID:28074849

  19. Sudden unexpected death in epilepsy: Identifying risk and preventing mortality.

    Science.gov (United States)

    Lhatoo, Samden; Noebels, Jeffrey; Whittemore, Vicky

    2015-11-01

    Premature death among individuals with epilepsy is higher than in the general population, and sudden unexpected death is the most common cause of this mortality. A new multisite collaborative research consortium, the Center for sudden unexpected death in epilepsy (SUDEP) Research (CSR), has received major funding from the National Institutes of Health (NIH) to examine the possible biologic mechanisms underlying this potentially preventable comorbidity and develop predictive biomarkers for interventions that could lower SUDEP incidence. This inaugural report describes the structure of the CSR, its priorities for human and experimental research, and the strategic collaborations and advanced tools under development to reduce this catastrophic outcome of epilepsy. The CSR Partners Program will work closely with committed volunteer agencies, industry, and academic institutions to accelerate and communicate these advances to the professional and lay community.

  20. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).

    Science.gov (United States)

    Klitten, Laura L; Møller, Rikke S; Nikanorova, Marina; Silahtaroglu, Asli; Hjalgrim, Helle; Tommerup, Niels

    2011-12-01

    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 balanced translocation: t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint at 22q11.21 was within a highly variable region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA.

  1. 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; Wang, ShaoPeng

    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.

  2. 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.

  3. Epilepsy

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008481 Application of amplitude of low-frequency fluctuation to the temporal lobe epilepsy with bilateral hippocampal sclerosis: an fMRI study. ZHANG Zhiqiang(张志强), et al.Dept Med Imaging, Clin Sch, Med Coll, Nanjing Univ, Nanjing 210002.Natl Med J China 2008;88(23):1594-1598. Objective To study the changes of amplitude of low-frequency fluctuation (ALFF) of the resting-fMRI in the mesial temporal lobe epilepsy (mTLE) with

  4. Epilepsy

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008115 Effect of commonly used antiepileptic drugs on cognitive functions of rats with pentylenetetrazol-induced epilepsy. WANG Xiaopeng(王晓鹏), et al. Dept Neurol, 2nd Hosp, Hebei Med Univ, Shijiazhuang 050000. Shanghai Med J 2007;30(12):920-923. Objective To observe the effect of antiepileptic drugs on the cognitive functions of rats with induced epilepsy. Methods Seventy male SD rats in their puberty were randomized into 7 groups,

  5. Absence of gender effect on amygdala volume in temporal lobe epilepsy.

    Science.gov (United States)

    Silva, Ivaldo; Lin, Katia; Jackowski, Andrea P; Centeno, Ricardo da Silva; Pinto, Magali L; Carrete, Henrique; Yacubian, Elza M; Amado, Débora

    2010-11-01

    Sexual dimorphism has already been described in temporal lobe epilepsy with mesial temporal sclerosis (TLE-MTS). This study evaluated the effect of gender on amygdala volume in patients with TLE-MTS. One hundred twenty-four patients with refractory unilateral or bilateral TLE-MTS who were being considered for epilepsy surgery underwent a comprehensive presurgical evaluation and MRI. Amygdalas of 67 women (27 with right; 32 with left, and 8 with bilateral TLE) and 57 men (22 with right, 30 with left, and 5 with bilateral TLE) were manually segmented. Significant ipsilateral amygdala volume reduction was observed for patients with right and left TLE. No gender effect on amygdala volume was observed. Contralateral amygdalar asymmetry was observed for patients with right and left TLE. Although no gender effect was observed on amygdala volume, ipsilateral amygdala volume reductions in patients with TLE might be related to differential rates of cerebral maturation between hemispheres.

  6. Epilepsy

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    2005267 Expression and their clinical significances of five multidrug resistance gene products in refractory epilepsy brain tissues. XIAO Zheng (肖争), et al. Dept Neurol,Lab, Affili Hosp, Chongqing Med Univ, Chongqing 400016, Chin J Neurol, 2004;37(6) 500-503. Objective: To investigate the expression and their clinical significances of five multidrug resistance gene products in human epileptogenic pathologies. Methods: 17 refractory epilepsy patients were divided into two groups: long course group (≥10 years) and short course group (<10 years). The expression

  7. Absence and mixed forms of epilepsy in WAG/Rij rats : characteristics and brain aminergic modulations

    NARCIS (Netherlands)

    Midzyanovskaya, Inna Stanislavovna

    2006-01-01

    The neuroanatomical substrates of absence seizures and convulsive seizures differ; absence seizures are generated in the cortico-thalamic loop, whereas the brain stem and limbic structures are involved in audiogenic convulsive seizures. In spite of this difference, the two seizure types share a majo

  8. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India

    Indian Academy of Sciences (India)

    A. Kapoor; J. Vijai; H. M. Ravishankar; P. Satishchandra; K. Radhakrishnan; A. Anand

    2003-04-01

    An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. To study if JME families from India exhibiting the AD mode of inheritance carry the Ala322Asp mutation, we examined 35 unrelated JME-affected individuals from such families for the Ala322Asp mutation in GABRA1. Ala322Asp mutation was not observed in any of these JME-affected individuals, suggesting that this mutation is unlikely to be a predominant mutation involved in causation of epilepsy. To evaluate the possibility of other mutation(s) in and around GABRA1 that may predispose to JME, we compared the allele frequencies at two marker loci, D5S2118 and D5S422, flanking GABRA1, in probands and 100 matched population controls. One of the allele frequencies at D5S422 shows a significant difference between the cases and controls (2 = 11.44, d.f. = 1, $P = 0.0007$), suggesting genetic association between JME and genes located in the proximity of the DNA marker.

  9. 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 re

  10. 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 recogn

  11. Inherited cortical HCN1 channel loss amplifies dendritic calcium electrogenesis and burst firing in a rat absence epilepsy model.

    Science.gov (United States)

    Kole, Maarten H P; Bräuer, Anja U; Stuart, Greg J

    2007-01-15

    While idiopathic generalized epilepsies are thought to evolve from temporal highly synchronized oscillations between thalamic and cortical networks, their cellular basis remains poorly understood. Here we show in a genetic rat model of absence epilepsy (WAG/Rij) that a rapid decline in expression of hyperpolarization-activated cyclic-nucleotide gated (HCN1) channels (I(h)) precedes the onset of seizures, suggesting that the loss of HCN1 channel expression is inherited rather than acquired. Loss of HCN1 occurs primarily in the apical dendrites of layer 5 pyramidal neurons in the cortex, leading to a spatially uniform 2-fold reduction in dendritic HCN current throughout the entire somato-dendritic axis. Dual whole-cell recordings from the soma and apical dendrites demonstrate that loss of HCN1 increases somato-dendritic coupling and significantly reduces the frequency threshold for generation of dendritic Ca2+ spikes by backpropagating action potentials. As a result of increased dendritic Ca2+ electrogenesis a large population of WAG/Rij layer 5 neurons showed intrinsic high-frequency burst firing. Using morphologically realistic models of layer 5 pyramidal neurons from control Wistar and WAG/Rij animals we show that the experimentally observed loss of dendritic I(h) recruits dendritic Ca2+ channels to amplify action potential-triggered dendritic Ca2+ spikes and increase burst firing. Thus, loss of function of dendritic HCN1 channels in layer 5 pyramidal neurons provides a somato-dendritic mechanism for increasing the synchronization of cortical output, and is therefore likely to play an important role in the generation of absence seizures.

  12. Head-to head comparison of mGlu1 and mGlu5 receptor activation in chronic treatment of absence epilepsy in WAG/Rij rats

    NARCIS (Netherlands)

    D'Amore, V.; Santolini, I.; Celli, R.; Lionetto, L.; Fusco, A. de; Simmaco, M.; Rijn, C.M. van; Vieira, E.; Stauffer, S.R.; Conn, P.J.; Bosco, P.; Nicoletti, F.; Luijtelaar, E.L.J.M. van; Ngomba, R.T.

    2014-01-01

    Acute treatment with positive allosteric modulators (PAMs) of mGlu1 and mGlu5 metabotropic glutamate receptors (RO0711401 and VU0360172, respectively) reduces the incidence of spike-and wave discharges in the WAG/Rij rat model of absence epilepsy. However, from the therapeutic standpoint, it was imp

  13. The selective GABAB antagonist CGP-35348 blocks spike-wave bursts in the cholesterol synthesis rat absence epilepsy model.

    Science.gov (United States)

    Smith, K A; Fisher, R S

    1996-08-12

    Slow IPSPs, which are believed to be involved in generation of the wave of spike-wave epileptiform discharges, are mediated by the GABAB receptor. We therefore examined the effect of the GABAB antagonist, Ciba Geigy Product, CGP-35348, in the cholesterol synthesis inhibitor model of absence epilepsy in rat. Rats received Ayerst-9944 (AY-9944), from 6-45 mg i.p. in the first few weeks of life. By 2 months after AY-9944 administration these rats exhibited recurrent spike-waves and behavioral arrests. In 10 such animals CGP-35348 was administered intraperitoneally in doses of 0 (vehicle), 10, 25 or 100 mg/kg. EEG recordings were obtained via previously implanted bone screws. Technologists blinded to treatment group counted spike-waves over a 4 h period post-injection. The average number of spike-wave burst seconds per 4 h of recording for all dosages and times was 52.4 +/- 81.4 (mean +/- S.D.) s. Mean burst times (seconds) were vehicle = 93.5 +/- 106.5; 10 mg/kg = 69.9 +/- 79.7; 25 mg/kg = 30.8 +/- 46.9; 100 mg/kg = 15.2 +/- 54, a mean 84% reduction at 100 mg/kg (ANOVA regression significant at 0.0001). Spike-waves were suppressed for at least 4 h after injection of CGP-35348. These findings supplement similar findings in other absence models, and support a potential role for GABAB antagonists in treatment of absence seizures.

  14. Gender and age differences in expression of GABAA receptor subunits in rat somatosensory thalamus and cortex in an absence epilepsy model.

    Science.gov (United States)

    Li, Huifang; Huguenard, John R; Fisher, Robert S

    2007-03-01

    Absence epilepsy is more prevalent in females, but reasons for this gender asymmetry are unknown. We reported previously that perinatal treatment of Long-Evans Hooded rats with the cholesterol synthesis inhibitor (CSI) AY9944 causes a life-long increase in EEG spike-wave discharges (SWDs), correlated with decreased expression of GABA(A) receptor subunit gamma2 protein levels in thalamic reticular and ventrobasal nuclei (SS thalamus) [Li, H., Kraus, A., Wu, J., Huguenard, J.R., Fisher, R.S., 2006. Selective changes in thalamic and cortical GABA(A) receptor subunits in a model of acquired absence epilepsy in the rat. Neuropharmacology 51, 121-128]. In this study, we explored time course and gender different effects of perinatal AY9944 treatment on expression of GABA(A) receptor alpha1 and gamma2 subunits in SS thalamus and SS cortex. Perinatal AY9944 treatment-induced decreases in GABA(A) gamma2 receptor subunits in rat SS thalamus and increases in SS cortex are gender and age specific. The findings suggest a mechanism for the higher prevalence of absence epilepsy in female patients.

  15. Strong Memory in Time Series of Human Magnetoencephalograms Can Identify Photosensitive Epilepsy

    CERN Document Server

    Yulmetyev, R M; Hänggi, P; Khusaenova, E V; Shimojo, S; Yulmetyeva, D G

    2006-01-01

    o discuss the salient role of the statistical memory effects in the human brain functioning we have analyzed a set of stochastic memory quantifiers that reflects the dynamical characteristics of neuromagnetic brain responses to a flickering stimulus of different color combinations from a group of control subjects which is contrasted with those from a patient with photosensitive epilepsy (PSE). We have discovered the emergence of strong memory and the accompanying transition to a regular and robust regime of chaotic behavior of the signals in the separate areas for a patient with PSE. This finding most likely identifies the regions of the location the protective mechanism in a human organism against occurrence of PSE.

  16. 特发性全面性癫痫的遗传学研究进展%Advance in genetic study for idiopathic generalized epilepsy

    Institute of Scientific and Technical Information of China (English)

    姜玉武; 谢涵

    2013-01-01

    Epilepsy is a kind of common neurological diseases in the world. Over 50% of epilepsies have genetic basis. We define "idiopathic epilepsy" as a kind of epilepsy or epilepsy syndrome only with genetic factors, and idiopathic generalized epilepsies (IGEs) is a major type of idiopathic epilepsies. Susceptibility genes of epilepsies are mainly ion channel genes. Both gene mutation and copy number variation lead to epilepsies. Childhood absence epilepsy (CAE) is a crucial part of IGEs. Due to the consistency of CAE' s phenotype and results of EEG, studies related to CAE susceptibility genes tend to be easier to conduct. Through these studies about IGEs /CAE susceptibility genes, we can determine pathogenic model of epilepsy genetics, and find the way to diagnose accurately in molecular genetics, to identify types of epilepsies, to detect targets of antiepileptic drugs, and provide a basis for gene therapy.

  17. 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.

  18. Epigenetics and epilepsy.

    Science.gov (United States)

    Roopra, Avtar; Dingledine, Raymond; Hsieh, Jenny

    2012-12-01

    Seizures can give rise to enduring changes that reflect alterations in gene-expression patterns, intracellular and intercellular signaling, and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, repressor element 1-silencing transcription factor (REST), has received a lot of attention due to the possibility that it may control fundamental transcription patterns that drive circuit excitability, seizures, and epilepsy. REST represses a suite of genes in the nervous system by utilizing nuclear protein complexes that were originally identified as mediators of epigenetic inheritance. Epigenetics has traditionally referred to mechanisms that allow a heritable change in gene expression in the absence of DNA mutation. However a more contemporaneous definition acknowledges that many of the mechanisms used to perpetuate epigenetic traits in dividing cells are utilized by neurons to control activity-dependent gene expression. This review surveys what is currently understood about the role of epigenetic mechanisms in epilepsy. We discuss how REST controls gene expression to affect circuit excitability and neurogenesis in epilepsy. We also discuss how the repressor methyl-CpG-binding protein 2 (MeCP2) and activator cyclic AMP response element binding protein (CREB) regulate neuronal activity and are themselves controlled by activity. Finally we highlight possible future directions in the field of epigenetics and epilepsy.

  19. Identifying Family History and Substance Use Associations for Adult Epilepsy from the Electronic Health Record

    Science.gov (United States)

    Wang, Yan; Chen, Elizabeth S.; Leppik, Ilo; Pakhomov, Serguei; Sarkar, Indra Neil; Melton, Genevieve B.

    2016-01-01

    Epilepsy is a prevalent chronic neurological disorder afflicting about 50 million people worldwide. There is evidence of a strong relationship between familial risk factors and epilepsy, as well as associations with substance use. The goal of this study was to explore the interactions between familial risk factors and substance use based on structured data from the family and social history modules of an electronic health record system for adult epilepsy patients. A total of 8,957patients with 38,802 family history entries and 8,822 substance use entries were gathered and mined for associations at different levels of granularity for three age groupings (>18, 18-64, and ≥65 years old). Our results demonstrate the value of an association rule mining approach to validate knowledge of familial risk factors. The preliminary findings also suggest that substance use does not demonstrate significant association between social and familial risk factors for epilepsy. PMID:27570679

  20. Accuracy of Conventional Diagnostic Methods for Identifying Structural Changes in Patients with Focal Epilepsy

    Science.gov (United States)

    Dakaj, Nazim; Kruja, Jera; Jashari, Fisnik; Boshnjaku, Dren; Shatri, Nexhat; Zeqiraj, Kamber

    2016-01-01

    Background: Epilepsy is a neurological disorder characterized by abnormal firing of nerve impulses in the brain. Aim: This study aims to investigate the frequency of appearance of pathological changes in conventional examination methods (electroencephalography–EEG, brain computerized tomography -CT or brain magnetic resonance imaging – MRI) in patients with epilepsy, and relationship between clinical manifestations and localization of changes in CT or MRI. Methods: In this study we have included 110 patients with focal epilepsy who fulfilled the inclusion criteria out of 557 initially diagnosed patients. Detailed clinical examination together with brain imaging (CT and MRI) and electroencephalography examination was performed. We have evaluated the accuracy of each diagnostic method to localize the epileptic focus. Diagnosis of epilepsy was determined by the ILAE (International League Against Epilepsy) criteria of the year 1989, and classification of epileptic seizures was made according to the ILAE classification 2010. Results: Electroencephalography presented changes in 60.9% of patients; brain CT in 42.1%, and MRI in 78% of the patients. The results of our study showed that clinical manifestations were not always conveyed with pathological changes in conventional examining methods performed. Of the total of 79 patients with changes in imaging (8 with changes in CT and 71 in MRI), 79.7% presented a clinical picture compatible with the region in which morphological changes were found, while in 20.3% of patients the presented morphological changes were not aligned with the clinical picture. Conclusion: In patients with epilepsy, conventional examination methods do not always find pathological changes, while clinical manifestations of epilepsy did not always coincide with the location of changes in imaging. Further studies are needed to see if there is clear border between focal and generalized epilepsy. PMID:28077892

  1. Unilateral and bilateral cortical resection: Effects on spike-wave discharges in a genetic absence epilepsy model

    NARCIS (Netherlands)

    Scicchitano, F.; Rijn, C.M. van; Luijtelaar, E.L.J.M. van

    2015-01-01

    Research Question Recent discoveries have challenged the traditional view that the thalamus is the primary source driving spike-and-wave discharges (SWDs). At odds, SWDs in genetic absence models have a cortical focal origin in the deep layers of the perioral region of the somatosensory cortex. The

  2. Clinical and electroencephalographic characteristics of epilepsy with myoclonic absences%肌阵挛失神癫癎临床及脑电图特征

    Institute of Scientific and Technical Information of China (English)

    杨志仙; 刘晓燕; 秦炯; 张月华; 吴晔; 姜玉武

    2009-01-01

    目的 肌阵挛失神癫癎(epilepsy with myoclonic absences,EMA)是一种以肌阵挛失神(myoclonic absences,MA)为主要发作类型的儿童癫癎综合征.本研究旨在探讨EMA的临床及神经电生理特征.方法 对6例EMA患儿均进行视频脑电图(VEEG)监测,2例同步监测双侧三角肌肌电图(EMG).对EMA的临床、神经电生理特征、治疗及预后进行分析.结果 6例中女3例,男3例.起病年龄为2岁3个月~11岁,平均5岁2个月.5例以MA为惟一发作类型,1例以全身强直-阵挛发作起病,后转变为MA.MA临床表现为:不同程度意识改变,上肢为主的节律性肌阵挛抽搐、常伴强直性收缩、有时可见头及身体的偏斜或不对称抽搐,持续时间为2~30 s,发作突发突止,发作频繁时每日可达数次~30余次,过度换气常可诱发.所有患儿发作期EEG为双侧对称同步的3 Hz棘慢波节律性暴发,2例双侧三角肌EMG记录到与发作期放电频率一致的节律性肌电暴发,其中1例还记录到伴随的持续强直性肌电活动.所有患儿发作间期EEG均有醒睡各期全导棘慢波发放,部分存在少量局灶性放电.治疗主要采用丙戊酸单药或联合其他抗癫癎药.随访时年龄为6岁4个月~19岁,4例发作控制8个月~3年;1例因开始治疗晚、1例未及时正规治疗并伴病程中全身强直-阵挛发作,分别随访2年半及5年,目前仍有发作,且有智力受损.结论 EMA为一种少见的儿童癫癎性疾病,发作类型主要为MA.临床表现结合发作期VEEG及同步EMG可确诊MA.早期恰当的选用丙戊酸或联合其他抗癫癎药对EMA有效.治疗不及时或伴有全身强直-阵挛发作时预后相对不良.%Objective Epilepsy with myoclonic absences (EMA) is a type of childhood epilepsy characterized by a specific seizure type, i.e. myoclonic absences (MA). This study aimed to investigate the clinical and electrophysiological characteristics of EMA. Method Video-EEG monitoring was

  3. Gastaut type idiopathic occipital epilepsy

    Directory of Open Access Journals (Sweden)

    I. V. Volkov

    2015-01-01

    Full Text Available Idiopathic occipital epilepsy is a rare epileptic syndrome. Its incidence in a Novosibirsk cohort of patients with idiopathic focal epilepsy is 0.9%. Objective: to present a clinical description of new cases of Gastaut syndrome, the types of its course, and treatment options in these patients. Patients and methods. The study covers 17 cases of Gastaut type idiopathic occipital epilepsy in 13 women and 4 men aged 11–53 years. Results. Among 17 cases we present 4 family cases with the disease. Three generations in 2 families were observed to have epilepsy, including Gastaut syndrome concurrent with childhood absence epilepsy. The adolescent onset of the disease was seen in most cases. Its main symptoms were focal visual seizures (100%, focal sensory seizures (58.9%, cephalalgia (47.1%, speech disorders (41.2%, and secondarily generalized convulsive seizures (35.3%. According to the frequency of seizures, the investigators identified 5 types of the course: single focal seizures, rare focal seizures with or without convulsions, frequent focal seizures with or without convulsions. The identity of the course of epilepsy was found in familial cases. 76.5% of the patients had a good quality of life: 41.2% of them were untreated while 35.3% were treated; no seizures were noted. 

  4. Epilepsy in children.

    Science.gov (United States)

    Arnold, S T; Dodson, W E

    1996-12-01

    Childhood epilepsies comprise a broad range of disorders which vary from benign to progressive and disabling. Accurate diagnosis of epilepsy type and determination of aetiology, when possible, are essential for appropriate treatment. The most common seizure type encountered in children is febrile seizures. These represent a benign condition which is not, in fact, epilepsy and usually does not require antiepileptic medication. When partial seizures occur in childhood, benign syndromes with spontaneous remission, such as rolandic epilepsy, must be distinguished from symptomatic epilepsies which may be refractory to medical management. Complex partial seizures in young children may appear different than in adults. The adverse effect profiles and dosing regimens of antiepileptic drugs in children are also different than in adults, and influence the choice of treatment. Epilepsy surgery should be considered for some children with intractible partial seizures. Generalized epilepsies also have a broader spectrum in children. The idiopathic generalized absence epilepsies are usually easy to control with medication. They range from childhood absence epilepsy which tends to remit in adolescence to juvenile myoclonic epilepsy which is a lifelong condition. In contrast, the seizures of West syndrome and Lennox-Gastaut syndrome are difficult to control, and treatment involves therapeutic modalities rarely used in adults such as ACTH and the ketogenic diet. Many childhood epilepsy syndromes have a familial predisposition, and the genetic bases for several disorders have been described.

  5. Early molecular and behavioral response to lipopolysaccharide in the WAG/Rij rat model of absence epilepsy and depressive-like behavior, involves interplay between AMPK, AKT/mTOR pathways and neuroinflammatory cytokine release.

    Science.gov (United States)

    Russo, Emilio; Andreozzi, Francesco; Iuliano, Rodolfo; Dattilo, Vincenzo; Procopio, Teresa; Fiume, Giuseppe; Mimmi, Selena; Perrotti, Nicola; Citraro, Rita; Sesti, Giorgio; Constanti, Andrew; De Sarro, Giovambattista

    2014-11-01

    The mammalian target of rapamycin (mTOR) pathway has been recently indicated as a suitable drug target for the prevention of epileptogenesis. The mTOR pathway is known for its involvement in the control of the immune system. Since neuroinflammation is recognized as a major contributor to epileptogenesis, we wished to examine whether the neuroprotective effects of mTOR modulation could involve a suppression of the neuroinflammatory process in epileptic brain. We have investigated the early molecular mechanisms involved in the effects of intracerebral administration of the lipopolysaccharide (LPS) in the WAG/Rij rat model of absence epilepsy, in relation to seizure generation and depressive-like behavior; we also tested whether the effects of LPS could be modulated by treatment with rapamycin (RAP), a specific mTOR inhibitor. We determined, in specific rat brain areas, levels of p-mTOR/p-p70S6K and also p-AKT/p-AMPK as downstream or upstream indicators of mTOR activity and tested the effects of LPS and RAP co-administration. Changes in the brain levels of pro-inflammatory cytokines IL-1β and TNF-α and their relative mRNA expression levels were measured, and the involvement of nuclear factor-κB (NF-κB) was also examined in vitro. We confirmed that RAP inhibits the aggravation of absence seizures and depressive-like/sickness behavior induced by LPS in the WAG/Rij rats through the activation of mTOR and show that this effect is correlated with the ability of RAP to dampen and delay LPS increases in neuroinflammatory cytokines IL-1β and TNF-α, most likely through inhibition of the activation of NF-κB. Our results suggest that such a mechanism could contribute to the antiseizure, antiepileptogenic and behavioral effects of RAP and further highlight the potential therapeutic usefulness of mTOR inhibition in the management of human epilepsy and other neurological disorders. Furthermore, we show that LPS-dependent neuroinflammatory effects are also mediated by a

  6. 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)

  7. 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

    Science.gov (United States)

    Verhoeven, Willem MA; Egger, Jos IM; Knegt, Alida C; Zuydam, José; Kleefstra, Tjitske

    2016-01-01

    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 anamnestic data and description of symptomatology over time may elucidate epilepsy-related psychopathology for which a specific treatment regimen is needed. PMID:27274247

  8. 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.

  9. Epilepsy Foundation

    Science.gov (United States)

    ... Become an Advocate for SUDEP Awareness Wellness Institute Healthy Eating Studio E: The Epilepsy Art Therapy Program Fitness and Exercise Important Information about epilepsy and seizures… About Epilepsy: ...

  10. 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...

  11. 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

  12. Galactosemia and phantom absence seizures

    Directory of Open Access Journals (Sweden)

    Zeynep Aydin-Özemir

    2014-01-01

    Full Text Available Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association.

  13. 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

  14. Idiopathic generalised epilepsies with 3 Hz and faster spike wave discharges: a population-based study with evaluation and long-term follow-up in 71 patients.

    Science.gov (United States)

    Siren, Auli; Eriksson, Kai; Jalava, Heli; Kilpinen-Loisa, Päivi; Koivikko, Matti

    2002-09-01

    For several years we have been following patients with intractable, childhood-onset idiopathic generalised epilepsies with > or = 3 Hz spike-wave discharges. Our need to find explanations for their intractability was the starting point for this study. We were interested in identifying characteristics, which would predict intractability; evaluating how these patients were treated and whether polytherapy was useful. We identified patients with > or = 3 Hz spike-wave discharges by reviewing EEG reports recorded between 1983 and 1992. Data were collected from medical records and through personal interviews. We identified 82 patients with tentative idiopathic generalised epilepsy. Eleven were excluded. Thirty-eight patients had childhood absence epilepsy, 18 had juvenile absence epilepsy, 13 had juvenile myoclonic epilepsy and two had eyelid myoclonia with absences: 89.5, 78, 38 and 0% of the patients in each group, respectively, had been seizure free for more than 2 years. Twenty percent of the patients had intractable seizures. All intractable patients with juvenile absence epilepsy had rhythmic, random eyelid blinking and generalised tonic-clonic seizures. A history of more than ten generalised tonic-clonic seizures was associated with intractability in juvenile myoclonic patients. Monotherapy with ethosuximide or valproate resulted in seizure control in 65% of patients. Seventeen patients (24%) were treated with polytherapy, six achieved remission. These six patients had childhood absence epilepsy and juvenile absence epilepsy. Positive outcome was found in childhood absence epilepsy and juvenile absence epilepsy. Intractable seizures were more frequent among patients with juvenile myoclonic epilepsy. None of them benefited from polytherapy with conventional anti-epileptic drugs.

  15. 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.

  16. Presurgical language mapping in epilepsy: Using fMRI of reading to identify functional reorganization in a patient with long-standing temporal lobe epilepsy

    Directory of Open Access Journals (Sweden)

    Layla Gould

    2016-01-01

    Full Text Available We report a 55-year-old, right-handed patient with intractable left temporal lobe epilepsy, who previously had a partial left temporal lobectomy. The patient could talk during seizures, suggesting that he might have language dominance in the right hemisphere. Presurgical fMRI localization of language processing including reading of exception and regular words, pseudohomophones, and dual meaning words confirmed the clinical hypothesis of right language dominance, with only small amounts of activation near the planned surgical resection and, thus, minimal eloquent cortex to avoid during surgery. Postoperatively, the patient was rendered seizure-free without speech deficits.

  17. 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.

  18. 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.

  19. The timing of pediatric epilepsy syndromes: what are the developmental triggers?

    Science.gov (United States)

    Paolicchi, Juliann M

    2013-11-01

    Pediatric epilepsy is characterized by multiple epilepsy syndromes with specific developmental triggers. They initiate spontaneously at critical periods of development and can just as spontaneously remit. Accompanying neurocognitive disabilities are often specific to the epileptic syndrome. Infantile or epileptic spasms have a very specific developmental window in the first year of life. Preceding the epilepsy, developmental arrest is common. The neurologic pathways underlying the development of spasms have been identified through PET scans as developmental abnormalities of serotonergic and GABAergic neurotransmitter systems in the brain stem and basal ganglia. Childhood absence epilepsy (CAE) and benign centrotemporal epilepsy syndrome (BECTS) are both known genetic epilepsy syndromes; they have a discrete onset in childhood with remission by puberty. In CAE, disturbances of specific calcium channels at key developmental stages lead to aberrant disruption of thalamocortical synchrony. Similarly, a complex interplay between brain development, maturation, and susceptibility genes underlies the seizures and the neurocognitive deficits of BECTS.

  20. 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

  1. Managing Epilepsy

    Science.gov (United States)

    ... What's this? Submit What's this? Submit Button Managing Epilepsy Language: English Spanish Recommend on Facebook Tweet Share ... support strategies to use to empower PLWMCC. Managing Epilepsy Well Network The Managing Epilepsy Well (MEW) Network ...

  2. Common pediatric epilepsy syndromes.

    Science.gov (United States)

    Park, Jun T; Shahid, Asim M; Jammoul, Adham

    2015-02-01

    Benign rolandic epilepsy (BRE), childhood idiopathic occipital epilepsy (CIOE), childhood absence epilepsy (CAE), and juvenile myoclonic epilepsy (JME) are some of the common epilepsy syndromes in the pediatric age group. Among the four, BRE is the most commonly encountered. BRE remits by age 16 years with many children requiring no treatment. Seizures in CAE also remit at the rate of approximately 80%; whereas, JME is considered a lifelong condition even with the use of antiepileptic drugs (AEDs). Neonates and infants may also present with seizures that are self-limited with no associated psychomotor disturbances. Benign familial neonatal convulsions caused by a channelopathy, and inherited in an autosomal dominant manner, have a favorable outcome with spontaneous resolution. Benign idiopathic neonatal seizures, also referred to as "fifth-day fits," are an example of another epilepsy syndrome in infants that carries a good prognosis. BRE, CIOE, benign familial neonatal convulsions, benign idiopathic neonatal seizures, and benign myoclonic epilepsy in infancy are characterized as "benign" idiopathic age-related epilepsies as they have favorable implications, no structural brain abnormality, are sensitive to AEDs, have a high remission rate, and have no associated psychomotor disturbances. However, sometimes selected patients may have associated comorbidities such as cognitive and language delay for which the term "benign" may not be appropriate.

  3. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

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

    1989-01-01

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

  4. 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.; Mageroy, N.; van Rhenen, W.; Groothoff, J. W.; van der Klink, J. J. L.; Pallesen, S.; Bjorvatn, B.; Moen, B. E.

    2013-01-01

    Background: 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

  5. 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 r

  6. 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.)

  7. 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.

  8. 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...

  9. Protective role for type-1 metabotropic glutamate receptors against spike and wave discharges in the WAG/Rij rat model of absence epilepsy

    NARCIS (Netherlands)

    Ngomba, R.T.; Santolini, I.; Biagioni, F.; Molinaro, G.; Simonyi, A.; Rijn, C.M. van; D'Amore, V.; Mastroiacovo, F.; Olivieri, G.; Gradini, R.; Luijtelaar, E.L.J.M. van; Nicoletti, F.

    2011-01-01

    Eight-month old WAG/Rij rats, which developed spontaneous occurring absence seizures, showed a reduced function of mGlu1 metabotropic glutamate receptors in the thalamus, as assessed by in vivo measurements of DHPG-stimulated polyphosphoinositide hydrolysis, in the presence of the mGlu5 antagonist M

  10. Awakening epilepsy ('Aufwach-Epilepsie') revisited.

    Science.gov (United States)

    Niedermeyer, E

    1991-01-01

    The concept of 'awakening epilepsy' (introduced by Janz, 1953) occupies a crucial position for the comprehension of primary generalized epilepsy. The associated electroencephalographic manifestations are discussed and the role of abnormal (paroxysmal) arousal responses ('dyshormia') is stressed. The origin of these bilateral-synchronous discharges appears to be located below the frontal midline scalp region in mesial portions of the supplementary motor region. 'Awakening epilepsy' is also interesting from the viewpoint of sleep research. There is also an important age factor; these seizures (mostly grand mal and classical petit mal absences) are most common in older children, adolescents and young adults. The general management of these patients has to take into account the patient's special vulnerability after a night of poor sleep.

  11. Definition of intractable epilepsy.

    Science.gov (United States)

    Sinha, Shobhit; Siddiqui, Khurram A

    2011-01-01

    Defining intractable epilepsy is essential not only to identify up to 40% of patients refractory to pharmacological management, but also to facilitate selection and comparison of such patients for research purposes. The ideal definition still eludes us. Multiple factors including number of antiepileptic drug (AED) failures, seizure frequency and duration of unresponsiveness, etiology, and epilepsy syndromes are considered in formulating the definition of pharmaco-resistant epilepsy. Most definitions used in the literature agree on the number of AED failures, which seem to be 2 or 3, however, the seizure frequency and time factor are varied. The International League Against Epilepsy proposed a definition of drug-resistant epilepsy as a failure of adequate trials of 2 tolerated and appropriately chosen and used AED schedules. This for now, could provide an operational definition for clinical and research settings. However, with emergence of new data and novel treatments the criteria for intractability may change.

  12. Epilepsy kills

    Directory of Open Access Journals (Sweden)

    Fulvio Alexandre Scorza

    2012-03-01

    Full Text Available People with epilepsy are more likely to die prematurely, and the most common epilepsy-related category of death is sudden unexpected death in epilepsy (SUDEP. Thus, the purpose of this article was to alert the scientific community about SUDEP.

  13. T-current related effects of antiepileptic drugs and a Ca2+ channel antagonist on thalamic relay and local circuit interneurons in a rat model of absence epilepsy.

    Science.gov (United States)

    Broicher, Tilman; Seidenbecher, Thomas; Meuth, Patrick; Munsch, Thomas; Meuth, Sven G; Kanyshkova, Tatyana; Pape, Hans-Christian; Budde, Thomas

    2007-09-01

    Channel blocking, anti-oscillatory, and anti-epileptic effects of clinically used anti-absence substances (ethosuximide, valproate) and the T-type Ca2+ current (IT) blocker mibefradil were tested by analyzing membrane currents in acutely isolated local circuit interneurons and thalamocortical relay (TC) neurons, slow intrathalamic oscillations in brain slices, and spike and wave discharges (SWDs) occurring in vivo in Wistar Albino Glaxo rats from Rijswijk (WAG/Rij). Substance effects in vitro were compared between WAG/Rij and a non-epileptic control strain, the ACI rats. Ethosuximide (ETX) and valproate were found to block IT in acutely isolated thalamic neurons. Block of IT by therapeutically relevant ETX concentrations (0.25-0.75 mM) was stronger in WAG/Rij, although the maximal effect at saturating concentrations (>or=10 mM) was stronger in ACI. Ethosuximide delayed the onset of the low threshold Ca2+ spike (LTS) of neurons recorded in slice preparations. Mibefradil (>or=2 microM) completely blocked IT and the LTS, dampened evoked thalamic oscillations, and attenuated SWDs in vivo. Computational modeling demonstrated that the complete effect of ETX can be replicated by a sole reduction of IT. However, the necessary degree of IT reduction was not induced by therapeutically relevant ETX concentrations. A combined reduction of IT, the persistent sodium current, and the Ca2+ activated K+ current resulted in an LTS alteration resembling the experimental observations. In summary, these results support the hypothesis of IT reduction as part of the mechanism of action of anti-absence drugs and demonstrate the ability of a specific IT antagonist to attenuate rhythmic burst firing and SWDs.

  14. The prognosis of idiopathic generalized epilepsy.

    Science.gov (United States)

    Seneviratne, Udaya; Cook, Mark; D'Souza, Wendyl

    2012-12-01

    Prognosis describes the trajectory and long-term outcome of a condition. Most studies indicate a better prognosis in idiopathic generalized epilepsy (IGE) in comparison with other epilepsy syndromes. Studies looking at the long-term outcome of different IGE syndromes are relatively scant. Childhood absence epilepsy appears to have a higher rate of remission compared to juvenile absence epilepsy. In absence epilepsies, development of myoclonus and generalized tonic-clonic seizures predicts lower likelihood of remission. Although most patients with juvenile myoclonic epilepsy (JME) achieve remission on antiepileptic drug therapy, remission without treatment. Data on the prognosis of other IGE syndromes are scarce. There are contradictory findings reported on the value of electroencephalography as a predictor of prognosis. Comparisons are made difficult by study heterogeneity, particularly in methodology and diagnostic criteria.

  15. 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

  16. 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.

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

    Science.gov (United States)

    Ouda, Osama; El-Refy, Ali; El-Feky, Fawzy A.; Mosa, Kareem A.

    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. PMID:26880910

  18. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

    Science.gov (United States)

    Ramocki, Melissa B; Bartnik, Magdalena; Szafranski, Przemyslaw; Kołodziejska, Katarzyna E; Xia, Zhilian; Bravo, Jaclyn; Miller, G Steve; Rodriguez, Diana L; Williams, Charles A; Bader, Patricia I; Szczepanik, Elżbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G; Akman, Cigdem I; McAlmon, Karen; Cohen, Melinda P; McGrath, James; Roeder, Elizabeth; Mueller, Jennifer; Kang, Sung-Hae L; Bacino, Carlos A; Patel, Ankita; Bocian, Ewa; Shaw, Chad A; Cheung, Sau Wai; Mazurczak, Tadeusz; Stankiewicz, Paweł

    2010-12-10

    We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.2 Mb deletion that includes the Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes and that is flanked by large complex low-copy repeats, we identified sites for nonallelic homologous recombination in two patients. There were no cases of this ∼1.2 Mb distal 7q11.23 deletion copy number variant identified in over 20,000 control samples surveyed. Three individuals with smaller, nonrecurrent deletions (∼180-500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease. Mice with targeted mutation in the Hip1 gene (Hip1⁻(/)⁻) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia. Overall, our data characterize a neurodevelopmental and epilepsy syndrome that is likely caused by recurrent and nonrecurrent deletions, including HIP1. These data do not exclude the possibility that YWHAG loss of function is also sufficient to cause neurological phenotypes. Based on the current knowledge of Hip1 protein function and its proposed role in AMPA and NMDA ionotropic glutamate receptor trafficking, we believe that HIP1 haploinsufficiency in humans will be amenable to rational drug design for improved seizure control and cognitive and behavioral function.

  19. 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...

  20. Default mode network in childhood absence epilepsy by 3.0T magnetic resonance imaging%基于3.0T MRI的儿童失神癫痫患者默认网络研究

    Institute of Scientific and Technical Information of China (English)

    李艳伟; 郑宏; 薛占尤; 王恩锋; 韩雄; 高丽; 郑美琼; 张颖; 任腾飞; 贺桂女; 晏僖

    2014-01-01

    Objective To explore the default mode network ( DMN) in childhood absence epilepsy ( CAE ) patients and examine their correlations between functional connectivity ( FC ) and clinical characteristics.Methods Fourteen CAE patients and 14 healthy volunteers were prospectively recruited from Henan Provincial People′s Hospital from September 2012 to June 2014.FC in DMN of each group, between-group comparison of DMN FC and their relationships with clinical characteristics were respectively analyzed with 3.0T resting-state functional magnetic resonance imaging ( fMRI) FC analysis seeding at bilateral precuneus/posterior cingulate cortex ( PCC ) .Results Seeding at bilateral precuneus/posterior cingulate cortex ( PCC) , positive connection was found in bilateral angular gyrus, bilateral superior parietal gyrus, bilateral superior and middle frontal gyrus, bilateral superior medial frontal gyrus, bilateral middle temporal gyrus and bilateral superior and middle occipital gyrus in controls.However, positive connection in CAE patients was observed in bilateral superior parietal gyrus and bilateral superior occipital gyrus.Between-group analysis of DMN connectivity revealed a reduction of DMN FC in bilateral medial orbitofrontal cortex, bilateral anterior cingulate cortex, bilateral superior frontal gyrus, bilateral middle frontal gyrus and left caudate in CAE patients.Moreover, increased DMN FC was present in right paracentral lobule and right middle cingulate gyrus.FC between PCC and bilateral medial orbitofrontal cortex or bilateral superior/middle frontal gyrus correlated negatively with disease duration, but there was no correlation with seizure frequency or initial age.Conclusion Brain′s default mode network in childhood absence epilepsy is impaired, presumably, as a result of unconsciousness and cognitive impairment during absence seizure.Abnormal DMN activities may be a biomaker of disease progress in absence epilepsy.%目的:探讨儿童失神癫痫( CAE

  1. Epilepsie aktuell

    DEFF Research Database (Denmark)

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

    2016-01-01

    In 2015, the International Veterinary Epilepsy Task Force (IVETF) published seven consensus statements that outline a number of recommendations and classifications on all aspects of epilepsy in dogs and cats. The open access publication is written in English. This article presents a summary...... 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...... are introduced. The second part of the article contains a short summary of the current knowledge regarding the genetic or suspected genetic origin of idiopathic epilepsy in purebred dogs. Die International Veterinary Epilepsy Task Force (IVETF) hat 2015 sieben Veröffentlichungen mit einem Konsensus mit...

  2. 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.

  3. EATING EPILEPSY

    Directory of Open Access Journals (Sweden)

    I. G. Rudakova

    2014-01-01

    Full Text Available Eating epilepsy (EE is one of the types of reflex epilepsy. The authors give the definition, classification position, possible pathogenic mechanisms and etiological factors associated with EE, as well as the semiology of seizures, the data of neuroimaging and electroencephalography and approaches to patient management and drug treatment. They also describe their observation of an 11-month-old girl with symptomatic focal temporal lobe epilepsy with focal dialeptic seizures provoked by eating.

  4. Bayesian sample size for diagnostic test studies in the absence of a gold standard: Comparing identifiable with non-identifiable models.

    Science.gov (United States)

    Dendukuri, Nandini; Bélisle, Patrick; Joseph, Lawrence

    2010-11-20

    Diagnostic tests rarely provide perfect results. The misclassification induced by imperfect sensitivities and specificities of diagnostic tests must be accounted for when planning prevalence studies or investigations into properties of new tests. The previous work has shown that applying a single imperfect test to estimate prevalence can often result in very large sample size requirements, and that sometimes even an infinite sample size is insufficient for precise estimation because the problem is non-identifiable. Adding a second test can sometimes reduce the sample size substantially, but infinite sample sizes can still occur as the problem remains non-identifiable. We investigate the further improvement possible when three diagnostic tests are to be applied. We first develop methods required for studies when three conditionally independent tests are available, using different Bayesian criteria. We then apply these criteria to prototypic scenarios, showing that large sample size reductions can occur compared to when only one or two tests are used. As the problem is now identifiable, infinite sample sizes cannot occur except in pathological situations. Finally, we relax the conditional independence assumption, demonstrating in this once again non-identifiable situation that sample sizes may substantially grow and possibly be infinite. We apply our methods to the planning of two infectious disease studies, the first designed to estimate the prevalence of Strongyloides infection, and the second relating to estimating the sensitivity of a new test for tuberculosis transmission. The much smaller sample sizes that are typically required when three as compared to one or two tests are used should encourage researchers to plan their studies using more than two diagnostic tests whenever possible. User-friendly software is available for both design and analysis stages greatly facilitating the use of these methods.

  5. 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.

  6. 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 ...

  7. 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…

  8. Comorbidities associated with epilepsy and headaches

    Directory of Open Access Journals (Sweden)

    Thalles P. Ferreira

    2012-04-01

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

  9. Pharmacoresistant epilepsy: unmet needs in solving the puzzle(s).

    Science.gov (United States)

    Weaver, Donald F; Pohlmann-Eden, Bernd

    2013-05-01

    Pharmacoresistant epilepsy is a significant medical problem. The 2nd Halifax International Epilepsy Conference & Retreat identified crucial needs, which if successfully addressed, will aid in paving the way to improved lives for people with pharmacoresistant epilepsy. These are needs: (1) for an evidence-based and dynamic definition of pharmacoresistant epilepsy; (2) for a comprehensive description of the natural history of pharmacoresistant epilepsy; (3) for a comprehensive description of the complications and comorbidities of pharmacoresistant epilepsy; (4) for a rigorous delineation of the epidemiology and socioeconomic impact of pharmacoresistant epilepsy; (5) for clinically meaningful diagnostic and prognostic physiologically based electroencephalography (EEG) biomarkers; (6) for clinically meaningful diagnostic and prognostic anatomically based (MRI Imaging) biomarkers; (7) for biomolecular/biochemical mechanistic understanding of etiopathogenesis for pharmacoresistant epilepsy; (8) for representative animal models of pharmacoresistant epilepsy; (9) for new and effective drugs or other novel treatments for pharmacoresistant epilepsy; and (10) to promote continuing research and research funding targeting pharmacoresistant epilepsy.

  10. Epilepsy - children

    Science.gov (United States)

    ... Philadelphia, PA: Elsevier; 2012:chap 50. Freeman J, Harvey S. Seizures and epilepsies. In: South M, Ashwal S, Isaacs ... School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the ...

  11. Autoimmune epilepsy.

    Science.gov (United States)

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Conte, Michela; Gallo, Andrea; Attanasio, Giuseppe; Ruoppolo, Giovanni; de Vincentiis, Marco

    2016-03-01

    Despite the fact that epilepsy is the third most common chronic brain disorder, relatively little is known about the processes leading to the generation of seizures. Accumulating data support an autoimmune basis in patients with antiepileptic drug-resistant seizures. Besides, recent studies show that epilepsy and autoimmune disease frequently co-occur. Autoimmune epilepsy is increasingly recognized in the spectrum of neurological disorders characterized by detection of neural autoantibodies in serum or spinal fluid and responsiveness to immunotherapy. An autoimmune cause is suspected based on frequent or medically intractable seizures and the presence of at least one neural antibody, inflammatory changes indicated in serum or spinal fluid or on MRI, or a personal or family history of autoimmunity. It is essential that an autoimmune etiology be considered in the initial differential diagnosis of new onset epilepsy, because early immunotherapy assures an optimal outcome for the patient.

  12. [Photosensitive epilepsy and television epilepsy].

    Science.gov (United States)

    Parain, D; Blondeau, C

    2000-01-01

    Photosensitivity is defined by the appearance of occipital or more diffuse electroencephalographic spikes and waves induced by intermittent light stimulation (ILS), particular patterns, TV-watching, and video games. Photosensitivity is a genetic characteristic. Only the diffuse spikes and waves induced by ILS are correlated with epilepsy. Pure photogenic epilepsy is characterized by seizures which are only visually induced, usually by watching TV. Video games sometimes add a trigger effect due to slowly moving patterns or intense brightness. Several epileptic syndromes are associated with a photosensitivity with or without visually-induced seizures, mainly generalized idiopathic epilepsy.

  13. 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

  14. Current and emerging treatments for absence seizures in young patients

    Directory of Open Access Journals (Sweden)

    Vrielynck P

    2013-07-01

    Full Text Available Pascal VrielynckWilliam Lennox Neurological Center, Reference Centre for Refractory Epilepsy, Catholic University of Louvain, BelgiumAbstract: In this report, we review the pharmacological and non-pharmacological treatments of the different absence seizure types as recently recognized by the International League Against Epilepsy: typical absences, atypical absences, myoclonic absences, and eyelid myoclonia with absences. Overall, valproate and ethosuximide remain the principal anti-absence drugs. Typical absence seizures exhibit a specific electroclinical semiology, pathophysiology, and pharmacological response profile. A large-scale comparative study has recently confirmed the key role of ethosuximide in the treatment of childhood absence epilepsy, more than 50 years after its introduction. No new antiepileptic drug has proven major efficacy against typical absences. Of the medications under development, brivaracetam might be an efficacious anti-absence drug. Some experimental drugs also show efficacy in animal models of typical absence seizures. The treatment of other absence seizure types is not supported with a high level of evidence. Rufinamide appears to be the most promising new antiepileptic drug for atypical absences and possibly for myoclonic absences. The efficacy of vagal nerve stimulation should be further evaluated for atypical absences. Levetiracetam appears to display a particular efficacy in eyelid myoclonia with absences. Finally, it is important to remember that the majority of antiepileptic drugs, whether they be old or new, may aggravate typical and atypical absence seizures.Keywords: antiepileptic drug, typical absence, atypical absence, myoclonic absence, eyelid myoclonia with absence

  15. [The use of depakene and depakene-chrono in idiopathic generalized epilepsy].

    Science.gov (United States)

    Perunova, N Iu

    2003-01-01

    During 5 years, 104 patients with different types of idiopathic generalized epilepsy were treated with depakine and depakine-chrono in monotherapy and polytherapy schedule. Thirty-three patients had childhood absence epilepsy, 34--juvenile absence epilepsy, 33--juvenile myoclonic epilepsy and 3--generalized convulsive seizures in wake up periods. Mean medication dose was 1200 mg daily. Significant improvement of the patient's state was revealed in 50% of the cases, being most efficient in patients with juvenile myoclonic epilepsy (60.6%) and in children absence epilepsy (57.5%). Indices of remission formation and quality changed in the same direction--complete remissions were more frequent in juvenile absence epilepsy. Depakine is concluded to be an effective medication for the treatment of idiopathic generalized epilepsy.

  16. Duchenne muscular dystrophy and epilepsy.

    Science.gov (United States)

    Pane, M; Messina, S; Bruno, C; D'Amico, A; Villanova, M; Brancalion, B; Sivo, S; Bianco, F; Striano, P; Battaglia, D; Lettori, D; Vita, G L; Bertini, E; Gualandi, F; Ricotti, V; Ferlini, A; Mercuri, E

    2013-04-01

    Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

  17. 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.

  18. 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) ...

  19. Paraneoplastic epilepsy.

    Science.gov (United States)

    Serafini, Anna; Lukas, Rimas V; VanHaerents, Stephen; Warnke, Peter; Tao, James X; Rose, Sandra; Wu, Shasha

    2016-08-01

    Epilepsy can be a manifestation of paraneoplastic syndromes which are the consequence of an immune reaction to neuronal elements driven by an underlying malignancy affecting other organs and tissues. The antibodies commonly found in paraneoplastic encephalitis can be divided into two main groups depending on the target antigen: 1) antibodies against neuronal cell surface antigens, such as against neurotransmitter (N-methyl-d-aspartate (NMDA), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), gamma-aminobutyric acid (GABA)) receptors, ion channels (voltage-gated potassium channel (VGKC)), and channel-complex proteins (leucine rich, glioma inactivated-1 glycoprotein (LGI1) and contactin-associated protein-2 (CASPR2)) and 2) antibodies against intracellular neuronal antigens (Hu/antineuronal nuclear antibody-1 (ANNA-1), Ma2/Ta, glutamate decarboxylase 65 (GAD65), less frequently to CV2/collapsin response mediator protein 5 (CRMP5)). In this review, we provide a comprehensive survey of the current literature on paraneoplastic epilepsy indexed by the associated onconeuronal antibodies. While a range of seizure types can be seen with paraneoplastic syndromes, temporal lobe epilepsy is the most common because of the association with limbic encephalitis. Early treatment of the paraneoplastic syndrome with immune modulation/suppression may prevent the more serious potential consequences of paraneoplastic epilepsy.

  20. American Epilepsy Society

    Science.gov (United States)

    ... View the poster schedule and more information here . Epilepsy Currents Generic Substitution of AEDs: Is it Time ... provides seizure protection in genetic epilepsy models More Epilepsy Professional News AES Releases New Guildeline for Treatment ...

  1. 染色体15q11.2和15q13.3区域的微缺失与中国儿童失神癫痫的相关性%Association of Microdeletions in 15q11.2 and 15q13.3 with Childhood Absence Epilepsy in Chinese Patients

    Institute of Scientific and Technical Information of China (English)

    张平平; 王静敏; 吴晔; 吴沪生; 许克铭; 刘晓燕; 陈彪; 姜玉武; 张月华; 桑田; 张锋; 季涛云; 黄琼辉; 谢涵; 赵海娟; 蔡斌

    2012-01-01

    目的 探讨15q11.2和15q13.3区域的拷贝数变异(CNV)是否与中国汉族儿童失神癫痫(CAE)患儿的表型相关.方法 采用Affymetrix SNP 5.0芯片技术对198例CAE患儿和198名北方汉族健康成人进行特发性全面性癫痫(IGEs)相关的CNV检测,对发现的阳性CNV采用高密度寡核苷酸为基础的比较基因组杂交芯片技术进一步验证.应用Accucopy技术对另外200例CAE息儿进行15q11.2和15q13.3区域的CNV检测.结果 通过Affymetrix SNP 5.0芯片技术在198例CAE患儿中发现3例存在15q11.2的微缺失,1例存在15q13.3的微缺失,而在198名健康对照中没有发现.另外200例CAE患儿中发现1例存在15q11.2的微缺失.发现的5例微缺失中除1例为新发CNV外,余4例均遗传自母亲,这些患儿的母亲没有发现明确的癫痫表现.结论 15q11.2和15q13.3的微缺失是CAE患儿重要的疾病相关CNV,并且15q11.2微缺失在中国汉族人群中具有较15q13.3微缺失更高的发生率.%Objective To investigated whether the copy number variations (CNV) in 15qll.2 and 15ql3.3 are associated with childhood absence epilepsy (CAE) in Chinese children. Methods Idiopathic generalized epilepsies(IGE) - related CNV in 198 patients with CAE and 198 healthy controls from northern China were assessed by Affymetrix SNP5. 0 microarrays,and the CNV identified by high -density oligonucleotide - based CGH microarrays were verified. The Accucopy technology was conducted to detect the CNV in 15qll.2 and 15ql3.3 in another 200 patients with CAE. Results lSqll.2 microdeletion in 3 cases out of 198 ( 1.5% ) CAE patients and 15ql3.3 microdeletion in 1 case out of 198 (0.5% ) CAE patients were found,but none were detected in 198 controls. 15qll.2 microdeletion was also found in 1 patient among another 200 CAE patients. Among these S cases,only 1 case had de novo CNV and the other4 cases inherited the CNV from their mothers with normal phenotype. Conclusions 15ql 1. 2 microdeletion and 15ql3

  2. [Epilepsy And Driving Ability: The New Guideline].

    Science.gov (United States)

    Kurthen, Martin

    2015-10-28

    The Swiss Guideline concerning epilepsy and driving has recently been revised. Recommendations have changed significantly in several respects. Some modifications arise indirectly from a change in the overall concept of epilepsy. As a consequence of the application of the new ILAE definition and diagnostic criteria for epilepsy, there are now cases in which the diagnosis of epilepsy is established even after one single seizure. Furthermore, a concept of imminent epilepsy was introduced to identify patients without seizures, but with a high risk of a first seizure within twelve months. On the other hand, the concept of a "resolved epilepsy" was established to loosen driving regulations for longterm seizure-free patients. In addition, the new guideline provides differential recommendations for provoked vs. unprovoked seizures in several clinical constellations.

  3. Psychosis and epilepsy in young people.

    Science.gov (United States)

    Lax Pericall, M T; Taylor, E

    2010-08-01

    The aim of this study was to describe the clinical characteristics of children and young people under 19 with both epilepsy and a psychotic state (schizophrenia-like psychotic episode, organic delusional disorder, or other brief psychotic episode). In total, the clinical case notes for 17 young people with these characteristics were identified retrospectively from three different sources. Compared with a group of young people with psychosis without epilepsy, children with epilepsy and psychosis more frequently had other neuropsychological problems like learning disability and autism. Both groups had a high rate of family histories of mental illness and social disability. Contrary to the findings in adults with psychosis and epilepsy, in this group of young people, psychosis was associated neither with temporal lobe epilepsy nor with mesial temporal sclerosis. The children with psychosis and epilepsy had a variety of seizure types and structural abnormalities.

  4. Psychiatric Aspects of Childhood Epilepsy

    Directory of Open Access Journals (Sweden)

    Raman Deep PATTANAYAK

    2012-06-01

     model. Epilepsia 2007;48(9:1639-51.32. Ott D, Caplan R, Guthrie D, Siddarth P, Komo S, Shields WD, et al. Measures of psychopathology in children with complex partial seizures and primary generalized epilepsy with absence. J Am Acad Child Adolesc Psychiatry 2001;40(8:907-14.33. Mathiak KA, Luba M, Mathiak, K, Karzel, K, Wolanczyk, Szczepanik E, et al. Quality of life in childhood epilepsy with lateralized epileptogenic foci. BMC Neurol 2010;10:69.34. Bulteau C, Jambaque I, Viguier D, Kieffer V, Dellatolas G, Dulac O. Epileptic syndromes, cognitive assessment and school placement: a study of 251 children. Dev Med Child Neurol 2000;42(5:319-27.35.Noeker M, Haverkamp F. Neuropsychological deficiencies as a mediator between CNS dysfunction and inattentive behaviour in childhood epilepsy. Dev Med Child Neurol 2003;45(10:717-8.36. Sillanpää M, Helen Cross J. The psychosocial impact of epilepsy in childhood. Epilepsy Behav 2009;15 Suppl 1:S5-10.37. Miller V, Palermo TM, Grewe SD. Quality of life in pediatric epilepsy: Demographic and disease-related predictors and comparison with healthy controls. Epilepsy Behav 2003,4(1:36-42.38. Kokkonen J, Kokkonen ER, Saukkonen AL, Pennanen P. Psychosocial outcome of young adults with epilepsy in childhood. J Neurol Neurosurg Psychiatry 1997;62(3:265-8.39. Pal DK, Chaudhury G, Sengupta S, Das T: Social integration of children with epilepsy in rural India. Soc Sci Med 2002;54(12:1867-74.40. Modi AC. The impact of a new pediatric epilepsy diagnosis on parents: parenting stress and activity patterns. Epilepsy Behav 2009;14(1:237-42.41. Shore C, Austin J, Musick B, Dunn D, McBride A, Creasy K. Psychosocial care needs of parents of children with new-onset seizures. J Neurosci Nurs 1998;30:169-74.42. Rodenburg R, Marie Meijer A, Dekovic´ M, Aldenkamp AP. Family predictors of psychopathology in children with epilepsy. Epilepsia 2006;47(3:601-14.43.Mims J. Self-esteem, behavior, and concerns surrounding epilepsy in siblings

  5. Hereditary epilepsy syndromes

    NARCIS (Netherlands)

    Callenbach, PMC; Brouwer, OF

    1997-01-01

    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) 199

  6. Childhood epilepsy and sleep

    OpenAIRE

    Al-Biltagi, Mohammed A

    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...

  7. 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...

  8. 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.

  9. Anxiety in adolescent epilepsy. A clinimetric analysis.

    Science.gov (United States)

    Carrozzino, Danilo; Marchetti, Daniela; Laino, Daniela; Minna, Maria; Verrocchio, Maria Cristina; Fulcheri, Mario; Verrotti, Alberto; Bech, Per

    2016-08-01

    Background Anxiety and depression have been considered to be neglected disorders in epilepsy. Because panic disorder is one of the most important anxiety disorders, it has been problematic to use very comprehensive anxiety questionnaires in epilepsy patients, as panic attacks and epileptic seizures, although two distinct clinical entities from a diagnostic point of view, show a significant overlap of symptoms. Aims We have focused on single items for anxiety and depression as screening candidates in adolescent epilepsy. Methods The individual panic attack item in the Screen for Children Anxiety Related Emotional Disorders Scale (SCARED) and the single depression item in the Kellner Symptom Questionnaire were tested. Our samples consisted of adolescent patients with epilepsy and a matched control group with healthy participants, as well as two numerical groups acting as controls. Results The single panic attack item identified panic anxiety in 24.1% in the group of patients with epilepsy and 0.0% in the matched control group (p = 0.01). The single depression item identified 52.2% with depression in the epilepsy group and 6.2% in the matched control group (p = 0.001). Conclusion As screening instruments, single items of panic attack and depression are sufficient to screen for these affective states in adolescent epilepsy. The clinical implications are that it is important to be quite specific when screening for depression and panic attacks in adolescent patients with epilepsy.

  10. 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 WAG/Ri

  11. The preferential mGlu2/3 receptor antagonist, LY341495, reduces the frequency of spike-wave discharges in the WAG/Rij rat model of absence epilepsy

    NARCIS (Netherlands)

    Ngomba, R.T.; Biagioni, F.; Casciato, S.; Willems-van Bree, P.C.M.; Battaglia, G.; Bruno, V.; Nicoletti, F.; Luijtelaar, E.L.J.M. van

    2005-01-01

    We examined the expression and function of group-II metabotropic glutamate (mGlu) receptors in an animal model of absence seizures using genetically epileptic WAG/Rij rats, which develop spontaneous non-convulsive seizures after 2-3 months of age. Six-month-old WAG/Rij rats showed an increased expre

  12. Narrative Absence

    DEFF Research Database (Denmark)

    Kaur, Ravinder

    2008-01-01

    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......The core of symbolic communities, like the community of Partition migrants, is formed through the discursive ownership of historical experiences-for instance, the loss of human lives, personal property and dismemberment of national territory; followed by the restoration of that loss through...... 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...

  13. AN AYURVEDIC INSIGHT TOWARDS EPILEPSY

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    Singh Karam

    2012-10-01

    Full Text Available In Ayurveda, Mental disorders and psychological temperaments have been broadly described [e.g. vata vyadhi (nervous disorders, unmada (insanity, murccha, moha (loss of consciousness, vismriti (amnesia, apasmara (epilepsy etc.]. In Ayurveda, Apasmara (or epilepsy has been described among the maharoga (a group of eight diseases well-known for causing serious morbidity. In the Ayurvedic texts, Apasmara (Epilepsy is defined as sudden abhorrent bodily activities (vibhatsa-cheshta accompanied by momentary blackouts or loss of consciousness (tama-pravesha owing to disturbance in mental faculties of dhi (intelligence, dhriti (retention and smriti (memory. Epilepsy is a major public health problem all over world. The estimated proportion of the general population with active epilepsy (i.e. continuing seizures or the need for treatment at a given time ranges from 4-10 per 1,000 people. Herbal remedies have been recommended in various medical treatises for the cure of different diseases. In this regard, there is great prospective for identifying excellent Ayurvedic components or its active principles, particularly in consideration of the fact that such substances may provide maximum advantage with cost effectiveness, least side effects, and improvement of patient compliance.

  14. Video game epilepsy.

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    Singh R

    2001-10-01

    Full Text Available Reflex epilepsy is the commonest form of epilepsy in which seizures are provoked by specific external stimulus. Photosensitive reflex epilepsy is provoked by environmental flicker stimuli. Video game epilepsy is considered to be its variant or a pattern sensitive epilepsy. The mean age of onset is around puberty and boys suffer more commonly as they are more inclined to play video games. Television set or computer screen is the commonest precipitants. The treatment remains the removal of the offending stimulus along with drug therapy. Long term prognosis in these patients is better as photosensitivity gradually declines with increasing age. We present two such case of epilepsy induced by video game.

  15. Management in refractory epilepsy: Beyond epilepsy surgery...

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    Roop Gursahani

    2008-01-01

    Full Text Available Although definititions of refractory epilepsy vary, about 40% of prevalent cases of epilepsy are not controlled by anti-epileptic drugs. A substantial proportion of this population requires palliative therapy since only a minority are candidates for epilepsy surgery. Drug therapy can be optimised after accurate classification of the epilepsy. Monotherapy is often as effective as polytherapy with fewer adverse effects. Depression and CNS adverse effects significantly impact quality of life and must be systematically screened for and treated. The ketogenic diet and vagal nerve stimulation provide substantial seizure control in a significant number of cases and may be used synergistically. Deep brain stimulation is another promising modality.

  16. Neuroimaging in Epilepsy

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    Mahmoud Motamedi

    2009-01-01

    Full Text Available Introduction: The assessment of the problem of seizures requires knowledge of the clinical details and features of the seizures, the functional abnormality in the brain as shown on the EEG, and the structural assessment of the brain with an MRI study optimized for epilepsy. Usually MRI or computed tomographic (CT scan should be performed in evaluating the cause of a newly diagnosed seizure disorder. MRI is preferred over CT because of its greater sensitivity and specificity for identifying small lesions."nBecause there is an option of surgical excision of the "seizure focus," which may cure the patient, the detection of a focal abnormality of the brain is important for the formulation of the reason for the seizures and the options available for treatment. Knowledge of the brain abnormalities early in the course of treating the patient greatly helps the management of each individual. The challenge to epileptologists is that the problem of epilepsy is a special one, which requires optimized protocols dedicated to it."nMRI interpretation is different when used in a screening way and when viewed in the context of other investigations. This is particularly important when the patient has partial seizures and may be considered for surgical treatment."nMost centers that deal with epilepsy spend a great deal of time in ensuring the quality of their EEG and EEG interpretation. However, unless there is a radiologist with an interest in epilepsy or an epileptologist who spends time with radiologist colleagues, it can be difficult to establish good epilepsy-focused MRI with appropriate sequences, radiography, and interpretation. MRI acquisition and interpretation need to be focused on the problem of epilepsy."nIndication"nThe American academy of neurology has published practice parameters for neuroimaging (NI studies (MRI, CT of patients having a first seizure. Emergent NI (scan immediately should be performed when a health care provider suspects a serious

  17. 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-...

  18. Noninvasive transcranial direct current stimulation in a genetic absence model

    NARCIS (Netherlands)

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

    2013-01-01

    The proposed area of onset for absence epilepsy characteristic of spontaneously occurring spike and slow-wave discharges (SWDs) in the genetic absence rat model is the subgranular layer of the somatosensory cortex. Modulation of the hyperexcitable cortical foci by bilateral transcranial direct curre

  19. Photoacoustic Imaging of Epilepsy

    Science.gov (United States)

    2014-04-01

    formulae for the spherical mean radon transform,” Inverse Probl. 23(1), 373–383 (2007). 5. D. Finch, S. Patch, and Rakesh, “Determining a Function from...Vickrey, B.G., 2007. Stopping antiepileptic drugs after epilepsy surgery: a survey of U.S. epilepsy center neurologists. Epilepsy Behav. 10, 219– 222

  20. Epilepsy is a disease!

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    Walter Oleschko Arruda

    1994-12-01

    Full Text Available According to the definition of disease, epilepsy shall not be considered neither a symptom nor a syndrome. Epilepsy is a generic term for a group of diseases characterized by seizures. It implies a state quite distinct from health. Therefore it seems worthy to keep epilepsy as such in the International Classification of Diseases (ICD.

  1. Neuroimaging in epilepsy

    Directory of Open Access Journals (Sweden)

    Shahina Bano

    2011-01-01

    Full Text Available Epilepsy is the most common neurological disease worldwide and is second only to stroke in causing neurological morbidity. Neuroimaging plays a very important role in the diagnosis and treatment of patients with epilepsy. This review article highlights the specific role of various imaging modalities in patients with epilepsy, and their practical applications in the management of epileptic patients.

  2. Natural approaches to epilepsy.

    Science.gov (United States)

    Gaby, Alan R

    2007-03-01

    This article reviews research on the use of diet, nutritional supplements, and hormones in the treatment of epilepsy. Potentially beneficial dietary interventions include identifying and treating blood glucose dysregulation, identifying and avoiding allergenic foods, and avoiding suspected triggering agents such as alcohol, aspartame, and monosodium glutamate. The ketogenic diet may be considered for severe, treatment-resistant cases. The Atkins diet (very low in carbohydrates) is a less restrictive type of ketogenic diet that may be effective in some cases. Nutrients that may reduce seizure frequency include vitamin B6, magnesium, vitamin E, manganese, taurine, dimethylglycine, and omega-3 fatty acids. Administration of thiamine may improve cognitive function in patients with epilepsy. Supplementation with folic acid, vitamin B6, biotin, vitamin D, and L-carnitine may be needed to prevent or treat deficiencies resulting from the use of anticonvulsant drugs. Vitamin K1 has been recommended near the end of pregnancy for women taking anticonvulsants. Melatonin may reduce seizure frequency in some cases, and progesterone may be useful for women with cyclic exacerbations of seizures. In most cases, nutritional therapy is not a substitute for anticonvulsant medications. However, in selected cases, depending on the effectiveness of the interventions, dosage reductions or discontinuation of medications may be possible.

  3. 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

  4. Genetics of idiopathic generalized epilepsy: An overview

    Directory of Open Access Journals (Sweden)

    D. K. V. Prasad

    2013-01-01

    Full Text Available Idiopathic generalized epilepsy (IGE is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes. Major advances have been made in the understanding of genetic basis of monogenic inherited epilepsies. However, most IGEs are complex genetic diseases and some susceptible IGE genes are shared across subtypes that determine subtypes in specific combinations. The high throughput technologies like deoxyribonucleic acid microarrays and sequencing technologies have the potential to identify causative genes or loci in non-familial cases.

  5. EEG-fMRI study of resting-state networks in childhood absence epilepsy%儿童期失神癫(癎)静息态脑网络改变的脑电图联合功能磁共振成像研究

    Institute of Scientific and Technical Information of China (English)

    郑玲; 焦青; 卢光明; 张志强; 王正阁; 王茂雪; 袁翠平; 沈连芳; 陈光辉; 杨防; 谭启富

    2012-01-01

    Objective To observe the alterations of resting-state brain functional networks in childhood absence epilepsy (CAE) using resting - state functional magnetic resonance imaging (fMRI) analysis, and to explore the cognitive disorders of children in epileptic seizures. Methods According to case selection criteria, 12 children with absence seizure were selected, from whom 17 fMRI data with generalized slow-wave discharges (GSWD) and the matched data without discharges were collected by using electroencephalogram (EEG) - fMRI synchronization. Independent component analysis was used to investigate the alterations in different states of 7 resting-state networks including the thalamus, default-mode network, dorsal attention network, central execution network and perceptive networks. Results Paired t-test and correlation analysis were used for statistical analysis. The thalamus showed increased coherence of brain activity in GSWD state, and the increased coherence was positively correlated with the durations of GSWD (r = 0.890, P = 0.000). The default-mode network (r = - 0.706, P = 0.000), dorsal attention network (r = - 0.829, P = 0.000) and central execution network (r = - 0.905, P = 0.000), which dealt with high - grade cognitive functions, showed decreased coherence, and the brain activity coherence in these networks were negatively correlated with GSWD durations. However, none of low-grade perceptive networks was found to have significant alteration in GSWD state. Conclusion The increased coherence of brain activity in the thalamus may be associated with the generation of GSWD in childhood absence epilepsy. Besides the default brain function, the processes of attention and cognitive execution may also be impaired in childhood absence epilepsy, while low - grade perceptive functions may not be greatly impacted. This study may contribute to the understanding of pathophysiological mechanism of impaired consciousness in childhood absence epilepsy.%目的 采用静息态

  6. 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

  7. Epilepsy and Mood Disorders

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    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.

  8. Single-Gene Determinants of Epilepsy Comorbidity.

    Science.gov (United States)

    Noebels, Jeffrey L

    2015-11-02

    Common somatic conditions are bound to occur by chance in individuals with neurological disorders as prevalent as epilepsy, but when biological links underlying the comorbidity can be uncovered, the relationship may provide clues into the origin and mechanisms of both. The expanding list of monogenic epilepsies and their associated clinical features offer a remarkable opportunity to mine the epilepsy genome for coordinate neurodevelopmental phenotypes and examine their pathogenic mechanisms. Defined single-gene-linked epilepsy syndromes identified to date include all of the most frequently cited comorbidities, such as cognitive disorders, autism, migraine, mood disorders, late-onset dementia, and even premature lethality. Gene-linked comorbidities may be aggravated by, or independent of, seizure history. Mutations in these genes establish clear biological links between abnormal neuronal synchronization and a variety of neurobehavioral disorders, and critically substantiate the definition of epilepsy as a complex spectrum disorder. Mapping the neural circuitry of epilepsy comorbidities and understanding their single-gene risk should substantially clarify this challenging aspect of clinical epilepsy management.

  9. 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.

  10. Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

    Science.gov (United States)

    Lee, Jin Sook; Lim, Byung Chan; Chae, Jong-Hee; Hwang, Yong Seung; Seong, Moon-Woo; Park, Sung Sup; Kim, Ki Joong

    2014-12-01

    To date, only a few studies have reported that, in tuberous sclerosis, TSC2 mutations are more frequently associated with infantile spasms and cognitive impairment compared to TSC1 mutations. We analyzed the mutational spectrum of patients with tuberous sclerosis in Korea and attempted to explore the associations between genotype and seizure type/outcome. We performed mutational analyses on 70 unrelated patients with clinically confirmed tuberous sclerosis by using direct DNA sequencing and/or multiplex ligation-dependent probe amplification. The patients' medical records, including epilepsy type and outcome, were reviewed retrospectively. We identified pathogenic mutations in 55 patients (79%), 25 of which were novel. There were 12 TSC1 mutations and 43 TSC2 mutations. TSC1 mutations included 8 frameshift and 4 nonsense mutations. TSC2 mutations included 12 frameshift, 10 nonsense, 6 splicing, and 6 missense mutations, as well as 4 in-frame deletions and 5 large deletions. Fifty-eight patients had epilepsy (83%), including 19 patients with a history of infantile spasms. Compared to patients with TSC1 mutations, individuals with TSC2 mutations had a significantly higher frequency of epilepsy (p<0.05) and tended to have a higher frequency of infantile spasms (37% vs 17%; p<0.3). Most of the patients with TSC2 mutations who developed infantile spasms exhibited subsequent epilepsy (13/14; 93%). However, the presence/absence of infantile spasms did not influence seizure remission or cognitive outcome.

  11. Risk factors of childhood epilepsy in Kerala

    Directory of Open Access Journals (Sweden)

    Thomas Varghese Attumalil

    2011-01-01

    Full Text Available Background: We aimed to identify the risk factors for epilepsy in children. Materials and Methods: This case-control retrospective study was carried out in the pediatric neurology outpatient service of the Trivandrum Medical College. All children (1-12 years with epilepsy satisfying the selection criteria were included, after obtaining consent from parents. Those with single seizures or febrile seizures were excluded. Controls were children without epilepsy attending the same hospital. Parents were interviewed and clinical data were obtained from medical records. Statistical analysis included chi-square test, odds ratio (OR, and logistic regression. Results: There were 82 cases and 160 controls whose mean age was 6.9 + 3.6 and 5.2 + 3.1, years respectively. On univariate analysis, family history of epilepsy, prolonged labor, cyanosis at birth, delayed cry after birth, admission to newborn intensive care unit, presence of congenital malformations, neurocutaneous markers, incessant cry in the first week, delayed developmental milestones, meningitis, encephalitis, and head trauma were found to be significant. On logistic regression, family history of epilepsy (OR 4.7, newborn distress (OR 8.6, delayed developmental milestones (OR 12.6, and head trauma (OR 5.8 were found to be significant predictors. Infants who had history of newborn distress are likely to manifest epilepsy before 1 year if they are eventually going to have epilepsy (OR 3.4. Conclusion: Modifiable factors such as newborn distress and significant head trauma are significant risk factors for childhood epilepsy. Newborn distress is a risk factor for early-onset (<1 year age epilepsy.

  12. [Current management of epilepsy].

    Science.gov (United States)

    Mizobuchi, Masahiro

    2013-09-01

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

  13. The mean age of petit mal epilepsy

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    Afsarunnesa Syeda

    2016-01-01

    Full Text Available Objective: Petit mal epilepsy or absence seizures involve brief, sudden lapses of consciousness and most often occurs in people under age of 20 years. This study was done to find out the most likely significant age affected by petit mal epilepsy and whether they had higher rate of behavioral, educational, and social problems. Materials and Methods: We run tests on total 32 patients (male 16 and female 16 from newborns to 20 years of age. Results: The most affected ages were from 4 to 9 years and both genders were equally affected. They have higher rate of behavioral, educational, and social problems, and most likely recovering ages from the disease were from 15 to 20 years. Conclusion: These findings could contribute in diagnosis and treatment of Petit Mal Epilepsy, as it often misinterpreted as daydreaming or inattention.

  14. Epilepsy in Adults with TSC

    Science.gov (United States)

    ... Privacy Policy Sitemap Learn Engage Donate About TSC Epilepsy in Adults with TSC Individuals with tuberous sclerosis ... being well controlled for long periods of time. Epilepsy and Seizures Epilepsy is any brain disorder that ...

  15. 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.

  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.

  17. Pharmacoresistant epilepsy and nanotechnology.

    Science.gov (United States)

    Rosillo-de la Torre, Argelia; Luna-Bárcenas, Gabriel; Orozco-Suárez, Sandra; Salgado-Ceballos, Hermelinda; García, Perla; Lazarowski, Alberto; Rocha, Luisa

    2014-06-01

    Epilepsy is one of the most common chronic neurological disorders. Furthermore, it is associated to diminished health-related quality of life and is thus considered a major public health problem. In spite of the large number of available and ongoing development of several new antiepileptic drugs (AEDs), a high percentage of patients with epilepsy (35-40%) are resistant to pharmacotherapy. A hypothesis to explain pharmacoresistance in epilepsy suggests that overexpression of multidrug resistance proteins, such as P-glycoprotein, on the endothelium of the blood brain barrier represents a challenge for effective AED delivery and concentration levels in the brain. Proven therapeutic strategies to control pharmacoresistant epilepsy include epilepsy surgery and neuromodulation. Unfortunately, not all patients are candidates for these therapies. Nanotechnology represents an attractive strategy to overcome the limited brain access of AEDs in patients with pharmacoresistant epilepsy. This manuscript presents a review of evidences supporting this idea.

  18. Describing the genetic architecture of epilepsy through heritability analysis.

    Science.gov (United States)

    Speed, Doug; O'Brien, Terence J; Palotie, Aarno; Shkura, Kirill; Marson, Anthony G; Balding, David J; Johnson, Michael R

    2014-10-01

    Epilepsy is a disease with substantial missing heritability; despite its high genetic component, genetic association studies have had limited success detecting common variants which influence susceptibility. In this paper, we reassess the role of common variants on epilepsy using extensions of heritability analysis. Our data set consists of 1258 UK patients with epilepsy, of which 958 have focal epilepsy, and 5129 population control subjects, with genotypes recorded for over 4 million common single nucleotide polymorphisms. Firstly, we show that on the liability scale, common variants collectively explain at least 26% (standard deviation 5%) of phenotypic variation for all epilepsy and 27% (standard deviation 5%) for focal epilepsy. Secondly we provide a new method for estimating the number of causal variants for complex traits; when applied to epilepsy, our most optimistic estimate suggests that at least 400 variants influence disease susceptibility, with potentially many thousands. Thirdly, we use bivariate analysis to assess how similar the genetic architecture of focal epilepsy is to that of non-focal epilepsy; we demonstrate both significant differences (P = 0.004) and significant similarities (P = 0.01) between the two subtypes, indicating that although the clinical definition of focal epilepsy does identify a genetically distinct epilepsy subtype, there is also scope to improve the classification of epilepsy by incorporating genotypic information. Lastly, we investigate the potential value in using genetic data to diagnose epilepsy following a single epileptic seizure; we find that a prediction model explaining 10% of phenotypic variation could have clinical utility for deciding which single-seizure individuals are likely to benefit from immediate anti-epileptic drug therapy.

  19. Epilepsy: Indian perspective.

    Science.gov (United States)

    Santhosh, Nandanavana Subbareddy; Sinha, Sanjib; Satishchandra, Parthasarathy

    2014-03-01

    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.

  20. 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......, to a lesser extent, compared with the psoriasis group. Areas of ego functioning most affected were "reality testing", "cognitive functioning", "integrative functioning" and "regulation and control of drives". Patients with more than one type of seizure were the most affected, as were patients who were younger...

  1. Active Epilepsy as Indicator of Neurocysticercosis in Rural Northwest India

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Raina

    2012-01-01

    Full Text Available Objective. To determine the contribution of neurocysticercosis as a cause for active epilepsy and to establish Neurocysticercosis as major definable risk of epilepsy in our setup. Methods. We conducted a door-to-door survey of 2,209 individuals of Bhore Pind and Bhore Kullian villages in Chattah zone of district Jammu (Jumma and Kashmir, Northwest India to identify patients with symptomatic epilepsy. Patients with active epilepsy were investigated with neuroimaging techniques to establish diagnosis of NCC (neurocysticercosis. Results. Among 25 patients with epilepsy 10(40% had CT/MR evidence of past or recent NCC infection. This gave us the point prevalence of 4.5/1000 for Neurocysticercosis in our study population. Interpretation. The study shows a high prevalence of NCC accounting for symptomatic epilepsy in our part of India.

  2. Epilepsy research 150 years after Darwin's theory of evolution.

    Science.gov (United States)

    Scorza, Fulvio A; Terra, Vera C; Scorza, Carla A; Arida, Ricardo M; Cavalheiro, Esper A

    2009-12-01

    On February 12, 2009, we commemorated the 200th anniversary of Charles Darwin's birth and the 150th anniversary of the publication of the first edition of the 'On the origin of species'. Only in the sixth edition of the Origin Darwin explicitly stated that natural selection applied to the brain as to all other organs and contemporary epilepsy research plays an interesting role in this scenario. Epilepsy affects approximately 3 percent of the general population and is a complex disease. At least 11 genes have now been described for human epilepsy and over 50 more genes have been identified in animal models of epilepsy. The complex gene to gene interactions and gene-environment interactions may account for epilepsy susceptibility and antiepileptic drug response. Darwin's thoughts on evolution are relevant to understand these gene interactions, contributing to current development of new treatments and prevention of chronic diseases, such as epilepsy.

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

    DEFF Research Database (Denmark)

    Jennum, Poul; Boserup, Line Pickering; Christensen, Jakob;

    2016-01-01

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

  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. Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

    DEFF Research Database (Denmark)

    Baumgart, A.; von Spiczak, S.; Verhoeven-Duif, N. M.;

    2014-01-01

    . We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes....

  6. Ictal EEG modifications in temporal lobe epilepsy.

    Science.gov (United States)

    Pelliccia, Veronica; Mai, Roberto; Francione, Stefano; Gozzo, Francesca; Sartori, Ivana; Nobili, Lino; Lo Russo, Giorgio; Pizzanelli, Chiara; Tassi, Laura

    2013-12-01

    Temporal lobe epilepsy is the most common type of epilepsy in adults with medically intractable, localisation-related epilepsy, amenable to surgery. Together with clinical and neuroimaging data, presurgical ictal scalp-EEG findings are often sufficient to define the epileptogenic zone. It is widely believed that ictal scalp-EEG findings in temporal lobe epilepsy are represented by 5-9-Hz lateralised rhythmic theta activity or 2-5-Hz lateralised rhythmic delta activity. On the basis of experimental models and experience with intra-cerebral EEG recordings, the pattern of low-voltage fast activity is considered to be the electrophysiological hallmark of the epileptogenic zone. We reviewed the ictal scalp-EEG data relating to 111 seizures in 47 patients with temporal lobe epilepsy who underwent video-EEG recordings during presurgical work-up. We found that 35 patients (74.4%) showed flattening, low-voltage fast activity or fast activity as the initial EEG pattern. When visible, the rhythmic delta or theta activity followed the fast activity. Low-voltage fast activity, flattening or fast activity occurs in the majority of patients with temporal lobe epilepsy and represents the main ictal EEG pattern. Low-voltage fast activity (or similar) is also identifiable as the initial ictal EEG pattern in scalp-EEG recordings.

  7. 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)…

  8. 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.

  9. Epilepsy and oral care.

    Science.gov (United States)

    Fiske, Janice; Boyle, Carole

    2002-05-01

    Epilepsy is a common symptom of an underlying neurological disorder. The seizures can take a variety of forms. Both the condition and its medical management can affect oral health. Prevention of oral disease and carefully planned dental treatment are essential to the well-being of people with epilepsy.

  10. Sex, epilepsy, and epigenetics.

    Science.gov (United States)

    Qureshi, Irfan A; Mehler, Mark F

    2014-12-01

    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.

  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. 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.

  13. 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".

  14. Rational management of epilepsy.

    Science.gov (United States)

    Viswanathan, Venkataraman

    2014-09-01

    Management of epilepsies in children has improved considerably over the last decade, all over the world due to the advances seen in the understanding of the patho-physiology of epileptogenesis, availability of both structural and functional imaging studies along with better quality EEG/video-EEG recordings and the availability of a plethora of newer anti-epileptic drugs which are tailormade to act on specific pathways. In spite of this, there is still a long way to go before one is able to be absolutely rational about which drug to use for which type of epilepsy. There have been a lot of advances in the area of epilepsy surgery and is certainly gaining ground for specific cases. Better understanding of the genetic basis of epilepsies will hopefully lead to a more rational treatment plan in the future. Also, a lot of work needs to be done to dispel various misunderstandings and myths about epilepsy which still exists in our country.

  15. 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.

  16. 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.

  17. 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.

  18. Use of a Cumulative Risk Scale to Predict Poor Intellectual and Academic Outcomes in Childhood Epilepsy.

    Science.gov (United States)

    Kavanaugh, Brian C; Scarborough, Vanessa Ramos; Salorio, Cynthia F

    2016-06-01

    Discrete risk factors for poor outcomes in childhood epilepsy have been identified, but it is unclear whether the combined effect of several risk factors better predicts outcome. The Epilepsy Cumulative Risk Scale was developed to quantify cumulative risk for poor outcomes in childhood epilepsy. Participants included 156 clinic-referred children with epilepsy. The Epilepsy Cumulative Risk Scale was developed using variables previously associated with functional outcomes. Scale utility was examined through its association with intellectual and academic functioning. All Epilepsy Cumulative Risk Scale variables were significantly associated with functioning. The Total Score (ie, cumulative effect) was most strongly correlated with cognition and academic skills. A Total Score ≥ 5 had the best sensitivity and specificity for differentiating those at high risk for poor outcomes. The Epilepsy Cumulative Risk Scale shows promise as a practical, data-driven tool for quantification of cumulative risk for poor outcomes in childhood epilepsy and may be helpful in detecting those needing referral for additional services.

  19. Psychosocial aspects of epilepsy.

    Science.gov (United States)

    Shah, Pravina

    2002-05-01

    Social attitudes towards epilepsy cause more distress to the patient and his/her near and dear ones, than the disease itself. The major psychosocial issues related to epilepsy are: Quality of medical management, overprotection, education, employment, marriage and pregnancy. Inadequate treatment is the major reason involved in psychosocial issues. Constant overprotection and pampering leads to behavioural pattern which makes epileptic patient dependent for ever. Education is hampered in epileptic persons. Teachers and students should have proper information regarding seizures. If seizures are well controlled, job opportunities increase. Employers and employees need to be educated about epilepsy. Self-employment is the best in epileptic patients. Regarding marriage, each patient is to be judged on individual merits and type of epilepsy. Society needs to be educated about the facts and consequences of epilepsy. Risk of anti-epileptic drug's usage is very insignificant compared to risk of seizures in pregnancy. So girls are advised to seek medical advice before pregnancy and during follow-up. With more and more support from the society, persons with epilepsy will have the courage and confidence to speak about themselves and their illness. It is only then that we will realise that persons with epilepsy are 'normal' or 'near-normal' and this will break the vicious cycle of stigma.

  20. Experimental models of epilepsy

    Directory of Open Access Journals (Sweden)

    Stanojlović Olivera P.

    2004-01-01

    Full Text Available Introduction An epileptic seizure is a clinical event and epilepsy is rather a group of symptoms than a disease. The main features all epilepsies have in common include: spontaneous occurrence, repetitiveness, and ictal correlation within the EEG. Epilepsies are manifested with distinct EEG changes, requiring exact clinical definition and consequential treatment. Current data show that 1% of the world's population (approximately 50 million people suffers from epilepsy, with 25% of patients being refractory to therapy and requiring search for new substances in order to decrease EEG and behavioral manifestations of epilepsies. Material and methods In regard to discovery and testing of anticonvulsant substances the best results were achieved by implementation of experi- mental models. Animal models of epilepsy are useful in acquiring basic knowledge regarding pathogenesis, neurotransmitters (glutamate, receptors (NMDA/AMPA/kainate, propagation of epileptic seizures and preclinical assessment of antiepileptics (competitive and non-competitive NMDA antagonists. Results and conclusions In our lab, we have developed a pharmacologic model of a (metaphit, NMDA and remacemide-cilastatin generalized, reflex, and audiogenic epilepsy. The model is suitable for testing various anticonvulsant substances (e.g. APH, APV, CPP, Mk-801 and potential antiepileptics (e.g. DSIP, its tetra- and octaanalogues.

  1. 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.

  2. 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.

  3. Prognosis of pediatric epilepsy

    Directory of Open Access Journals (Sweden)

    Girish C Nair

    2008-01-01

    Full Text Available Epilepsy is a significant and commonplace neurological disability in the pediatric population. Data from increasingly larger and more representative studies have brought about noteworthy changes in our understanding of the prognosis of epilepsy in the pediatric age-group. Prevalence rates for epilepsy in both the developing and the developed world are surprisingly similar despite distinct differences in incidence and large treatment gaps in the developing world; this strongly points towards the possibility of spontaneous remission, at least in some patients. Prognosis after an isolated first seizure is generally quite favorable, but worsens with recurring seizures, remote symptomatic etiology, and the presence of abnormalities on EEG. Presently available antiepileptic drugs (AEDs are at best seizure suppressant in their action and have not been shown to be antiepileptic in the sense that they alter the long-term prognosis of the epilepsy for the better. Epilepsy syndromes can be considered to belong to distinct groups on the basis of their prognosis. Some have an excellent outcome in terms of seizure freedom and neurological development; yet others have a grim prognosis with respect to these variables. Factors that impact on the prognosis of treated epilepsy are being understood and include the specific etiology, age of onset of epilepsy, and EEG findings. Epileptics, especially those with remote symptomatic seizures and refractory epilepsy, suffer higher mortality as compared to the general population. While the outcomes in terms of seizure freedom in patients with epilepsy appear favorable, disturbing data on psychosocial morbidity are coming to light and are reflected in the lower rates of higher education, employment, marriage, and fertility among epileptics.

  4. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.

    Science.gov (United States)

    Mefford, Heather C; Cook, Joseph; Gospe, Sidney M

    2012-12-01

    A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin. Since the discovery of molecular basis of this disorder, a few patients have been reported with a similar clinical phenotype but without evidence of antiqutin dysfunction. We report on a patient who had carried a clinical diagnosis of PDE for 7 years, but who was than shown to have normal ALDH7A1 sequencing and the absence of biomarkers characteristic of this familial epilepsy. Array comparative genomic hybridization (CGH) demonstrated a 1.5-Mb terminal deletion of the long arm of chromosome 20, which included deletion of the KCNQ2 and CHRNA4 genes, both of which have been associated with specific epilepsy syndromes. We suggest that this boy's neonatal epilepsy and neurodevelopmental disabilities are secondary to this deletion and that his clinical response to pyridoxine was coincidental. This patient's history emphasizes the utility of array CGH in the evaluation of children with epilepsy of unknown etiology.

  5. [Treatment of epilepsy: where are we today?].

    Science.gov (United States)

    Wieser, H G

    1996-01-23

    The modern treatment of epilepsy has improved considerably in all three pillars. More than a century has passed, however, since Sir Charles Locock introduced the bromides in 1857 and Sir Victor Horsely pioneered epilepsy surgery in 1886 (18). In drug therapy, the 'classic AED' of the last decades, i.e. phenobarbital (Hauptmann, 1912) and phenytoin (Putnam and Merrit, 1938) are being largely displaced by valproate (Meunir, 1963) and carbamazepine (Lorge, 1963). Only ethosuximide (Zimmermann, 1951) has continued to maintain its position in 3/s spikewave-absence epilepsy, in particular in the USA (28, 29). Although it is an excellent drug against absences, it has the unpleasant property that it may induce GM seizures and should therefore be combined with a so-called 'GM protector' (mostly phenobarbital). For this reason ethosuximide has been relegated to second place in Europe by valproate. Thus, the decision as to which AED should be employed at the outset has been simplified considerably: actually, with valproate as the drug of first choice, which displays a very broad spectrum of action, we are on the right track for virtually all forms of epilepsy, perhaps with the exception of focal epilepsy (11). Especially in the event of focal epilepsy of temporal origin we employ carbamazepine as the preparation of first choice. In some countries (Denmark), because of the less severe side effects, oxcarbazepine is already preferred (Mogens Dam, personal communication). Considerable experience and knowledge are still required, however, when resistance has developed to traditionally applied classic monotherapy. Here, the range of further treatment can also be greatly extended by the availability of the 'new AED'. A generally accepted protocol for the replacement of one preparation with another first- or second-choice drug and, above all, for the 'right' combination with third-choice preparations can as yet not be compiled. What we need here is the expert epileptologist who has

  6. Characteristics of epilepsy in severely mentally retarded individuals.

    Science.gov (United States)

    Amano, K; Takamatsu, J; Ogata, A; Miyazaki, C; Kaneyama, H; Katsuragi, S; Deshimaru, M; Sumiyoshi, S; Miyakawa, T

    2000-02-01

    In order to clarify the characteristics of epilepsy in patients with severe mentally retarded (SMR) subjects, we analyzed 52 SMR subjects with epilepsy from the institute for SMR subjects at Kikuchi National Hospital, Kumamoto, Japan. A total of 61.5% patients had uncontrolled seizures which were resistant to treatment. The most common combinations of seizure types in those not responding to conventional anticonvulsants were generalized tonic-clonic seizures (GTCS) with tonic seizure and GTCS with atypical absence. Their clinical features were characterized by spastic paralysis associated with a slower background electroencephalogram and abnormal computed tomography scans of the head, suggesting the involvement of cortical damage. These findings suggest that a large proportion of epilepsy in SMR subjects does not respond to treatment and that the severity of organic brain damage may therefore affect the natural course of epilepsy in such patients.

  7. PET studies in epilepsy.

    Science.gov (United States)

    Sarikaya, Ismet

    2015-01-01

    Various PET studies, such as measurements of glucose, serotonin and oxygen metabolism, cerebral blood flow and receptor bindings are availabe for epilepsy. (18)Fluoro-2-deoxyglucose ((18)F-FDG) PET imaging of brain glucose metabolism is a well established and widely available technique. Studies have demonstrated that the sensitivity of interictal FDG-PET is higher than interictal SPECT and similar to ictal SPECT for the lateralization and localization of epileptogenic foci in presurgical patients refractory to medical treatments who have noncontributory EEG and MRI. In addition to localizing epileptogenic focus, FDG-PET provide additional important information on the functional status of the rest of the brain. The main limitation of interictal FDG-PET is that it cannot precisely define the surgical margin as the area of hypometabolism usually extends beyond the epileptogenic zone. Various neurotransmitters (GABA, glutamate, opiates, serotonin, dopamine, acethylcholine, and adenosine) and receptor subtypes are involved in epilepsy. PET receptor imaging studies performed in limited centers help to understand the role of neurotransmitters in epileptogenesis, identify epileptic foci and investigate new treatment approaches. PET receptor imaging studies have demonstrated reduced (11)C-flumazenil (GABAA-cBDZ) and (18)F-MPPF (5-HT1A serotonin) and increased (11)C-cerfentanil (mu opiate) and (11)C-MeNTI (delta opiate) bindings in the area of seizure. (11)C-flumazenil has been reported to be more sensitive than FDG-PET for identifying epileptic foci. The area of abnormality on GABAAcBDZ and opiate receptor images is usually smaller and more circumscribed than the area of hypometabolism on FDG images. Studies have demonstrated that (11)C-alpha-methyl-L-tryptophan PET (to study synthesis of serotonin) can detect the epileptic focus within malformations of cortical development and helps in differentiating epileptogenic from non-epileptogenic tubers in patients with tuberous

  8. Scalp high frequency oscillations helps identify epileptogenic zone in secondary epilepsy%头皮脑电高频振荡波对继发性癫痫致痫灶的定位价值

    Institute of Scientific and Technical Information of China (English)

    王刚; 但炜; 熊伟茗; 胡铁弋; 谢延风; 石全红; 詹彦

    2014-01-01

    epileptogenic zone.Methods A retrospective analysis study of video electroencephalogram (V-EEG) data in our hospital from September 2011 to September 2012 including 37 patients with secondary epilepsy was carried out.The channels with interictal epileptiform discharges (IEDs) were defined as area A (namely irritability area) and those without IEDs were defined as area B.The channels with ictal discharge (ID) in l0 to 30 s before the seizure onset were defined as area C and those without ID were defined as area D.IEDs (1 to 30 Hz) and ripples (80 to 250 Hz) in each area were marked.We analyzed the occurrence rate,quantity,distribution and sensitivity,specificity and accuracy to determine the SOZ.Results (1) The total occurrence rate of IEDs and ripples was 100% (37/37) and 48.6% (18/37) in 37 patients,respectively,and that of IEDs was significantly higher (Chi-square test,P <0.01).The average rates (times/min) of ripples in area A,B,C and D were 0.08 ± 0.15,0.03 ± 0.03,0.12 ± 0.29,and 0.04 ± 0.06,respectively,suggesting that the average rate of ripples of area A was greater than that of area B and area C greater than area D (t test,P <0.01).(2) The average channel of ripples was 4.2 ±3.6 in each patient,significantly less than that of IEDs 12.4 ± 5.8 (t test,P < 0.01).(3) Compared to the IEDs,the ripples were less sensitive (ripples 51.1% vs IEDs 81.6%) but more specific (ripples 87.9% vs IEDs 57.1%) and more accurate (ripples 80.6% vs IEDs 54%) in determining the SOZ.Conclusion High frequency oscillations are closely associated with epileptiform discharges in the epileptogenic zone of secondary epilepsy patients,with higher specificity to identify SOZ.But the sensitivity is too low to replace IEDs to identify SOZ independently.High frequency oscillations help IEDs to localize epileptogenic zone.

  9. Genetics Home Reference: juvenile myoclonic epilepsy

    Science.gov (United States)

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

  10. Using Relevance Feedback to Distinguish the Changes in EEG During Different Absence Seizure Phases.

    Science.gov (United States)

    Li, Jing; Liu, Xianzeng; Ouyang, Gaoxiang

    2016-07-01

    We carried out a series of statistical experiments to explore the utility of using relevance feedback on electroencephalogram (EEG) data to distinguish between different activity states in human absence epilepsy. EEG recordings from 10 patients with absence epilepsy are sampled, filtered, selected, and dissected from seizure-free, preseizure, and seizure phases. A total of 112 two-second 19-channel EEG epochs from 10 patients were selected from each phase. For each epoch, multiscale permutation entropy of the EEG data was calculated. The feature dimensionality was reduced by linear discriminant analysis to obtain a more discriminative and compact representation. Finally, a relevance feedback technique, that is, direct biased discriminant analysis, was applied to 68 randomly selected queries over nine iterations. This study is a first attempt to apply the statistical analysis of relevance feedback to the distinction of different EEG activity states in absence epilepsy. The average precision in the top 10 returned results was 97.5%, and the standard deviation suggested that embedding relevance feedback can effectively distinguish different seizure phases in absence epilepsy. The experimental results indicate that relevance feedback may be an effective tool for the prediction of different activity states in human absence epilepsy. The simultaneous analysis of multichannel EEG signals provides a powerful tool for the exploration of abnormal electrical brain activity in patients with epilepsy.

  11. Epilepsy and bipolar disorder.

    Science.gov (United States)

    Knott, Sarah; Forty, Liz; Craddock, Nick; Thomas, Rhys H

    2015-11-01

    It is well recognized that mood disorders and epilepsy commonly co-occur. Despite this, our knowledge regarding the relationship between epilepsy and bipolar disorder is limited. Several shared features between the two disorders, such as their episodic nature and potential to run a chronic course, and the efficacy of some antiepileptic medications in the prophylaxis of both disorders, are often cited as evidence of possible shared underlying pathophysiology. The present paper aims to review the bidirectional associations between epilepsy and bipolar disorder, with a focus on epidemiological links, evidence for shared etiology, and the impact of these disorders on both the individual and wider society. Better recognition and understanding of these two complex disorders, along with an integrated clinical approach, are crucial for improved evaluation and management of comorbid epilepsy and mood disorders.

  12. Epilepsy - children - discharge

    Science.gov (United States)

    ... Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 593. Read More Brain aneurysm repair Brain surgery Epilepsy - overview Seizures Stereotactic radiosurgery - ...

  13. [Treatment of pediatric epilepsy].

    Science.gov (United States)

    Ito, Susumu; Oguni, Hirokazu

    2014-05-01

    Recently, the treatment strategy for pediatric epilepsy has been dramatically changed in Japan, because of the approval of new-generation antiepileptic drugs. Since 2006, a total of 6 new antiepileptic drugs, including gabapentin (GBP; adults/pediatric patients: 2006/2011 [year of approval]), topiramate (TPM; 2007/2013), lamotrigine (LTG; 2008/2008), levetiracetam (LEV; 2010/2013), stiripentol (STP; 2012/2012), and rufinamide (RUF; 2013/2013), have been introduced. Thus far, valproate (VPA) and carbamazepine (CBZ) have been first indicated for "generalized" epilepsy and "focal" epilepsy syndromes/types, respectively, in Japan. However, the approval of these new drugs could allow us to choose more effective and less toxic ones at an early stage of treatment. In this chapter, we describe the latest domestic and foreign guidelines for the treatment of pediatric epilepsy.

  14. Sex, epilepsy, and epigenetics

    OpenAIRE

    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 ...

  15. Epigenetics and Epilepsy

    OpenAIRE

    2012-01-01

    Seizures can give rise to enduring changes that reflect alterations in gene expression patterns, intra and inter cellular signaling and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, REST (repressor element 1-silencing transcription factor), has received a lot of attention due to...

  16. GEM THERAPY AND EPILEPSY

    OpenAIRE

    1990-01-01

    The authors present in this paper the status of treatment and cause of epilepsy. They propose further research to be undertaken to document the data and a study of human magnetic aura followed by blood spectral studies. They have suggested that based upon these studies it should be possible to determine the cause of epilepsy and its treatment by the physical application of suitable precious and semi-previous stones followed by administration of Ayurvedic formulation.

  17. 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...

  18. Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

    DEFF Research Database (Denmark)

    Seppälä, Eija H.; Koskinen, Lotta L.E.; Gulløv, Christina Hedal;

    2012-01-01

    collected 159 cases and 148 controls and confirmed the presence of epilepsy through epilepsy questionnaires and clinical examinations. The MRI was normal while interictal EEG revealed abnormalities and variable foci in the clinically examined affected dogs. A genome-wide association study using Affymetrix......, or as primary generalized. Nine genes have been identified for symptomatic (storage diseases) and one for idiopathic epilepsy in different breeds. However, the genetic background of common canine epilepsies remains unknown. We have studied the clinical and genetic background of epilepsy in Belgian Shepherds. We...

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

    Science.gov (United States)

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

    2012-09-01

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

  20. Epilepsy and homicide

    Science.gov (United States)

    Pandya, Neil S; Vrbancic, Mirna; Ladino, Lady Diana; Téllez-Zenteno, José F

    2013-01-01

    Purpose 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. PMID:23700367

  1. Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.

    Science.gov (United States)

    Lachance-Touchette, Pamela; Martin, Caroline; Poulin, Chantal; Gravel, Micheline; Carmant, Lionel; Cossette, Patrick

    2010-09-01

    Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. A total of nine single nucleotide polymorphisms (SNPs) have been identified,five of which are novel. The previously described P11S missense mutation was found in three affected and one unaffected individuals from a French-Canadian family. However, the P11S variant was also found in one of our 190 control individuals of French-Canadian origin, suggesting that this variant is rather a rare polymorphism in this population. Further screening of other IGE cohorts from various ethnic origins would help to confirm the association between this rare functional variant and epilepsy.

  2. 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

  3. An unknown quantity--the worldwide prevalence of epilepsy.

    Science.gov (United States)

    Bell, Gail S; Neligan, Aidan; Sander, Josemir W

    2014-07-01

    The reported incidence (rate of new cases in a population) of epilepsy is consistently lower in high-income than in lower-income economies, whereas opinions vary regarding comparative prevalence rates (proportion of the population with epilepsy). For any condition that does not influence mortality, lifetime prevalence should approximate to the cumulative incidence. We suspected that epilepsy prevalence might be uniform throughout the world, whereas incidence is higher in resource-poor countries. To test whether our suspicion was reasonable, we conducted a Medline search to estimate the prevalence of active and lifetime epilepsy in different economic areas throughout the world. We found that the range of estimated prevalence of epilepsy may be broadly similar throughout the world, but comparison is limited by lack of door-to-door studies in high-income economies and by variations in the definitions of active epilepsy. We contend that any inconsistencies between incidence and prevalence are due largely to the excess premature death rate in people with epilepsy in lower-income economies. Much of the variability in epidemiologic indices arises from differences in study methodology, definitions, and risk factors. The epidemiology of epilepsy, and particularly its mortality, needs thorough investigation using uniform definitions that do not include antiepileptic drug use; causes of death should be identified and actions, including treatment and education, should be taken to avoid preventable deaths.

  4. Cannabis agonist injection effect on the coupling architecture in cortex of WAG/Rij rats during absence seizures

    NARCIS (Netherlands)

    Sysoeva, M.V.; Kuznetsova, G.D.; Rijn, C.M. van; Sysoev, I.V.

    2016-01-01

    WAG/Rij rats are well known genetic model of absence epilepsy, which is traditionally considered as a nonconvulsive generalised epilepsy of unknown aetiology. In current study the effect of (R)-(+)-WIN 55,212-2 (cannabis agonist) injection on the coupling between different parts of cortex was studie

  5. Prevalence of River Epilepsy in the Orientale Province in the Democratic Republic of the Congo.

    Directory of Open Access Journals (Sweden)

    Robert Colebunders

    2016-05-01

    Full Text Available An increased prevalence of epilepsy has been reported in many onchocerciasis endemic areas.To determine the prevalence and distribution of epilepsy in an onchocerciasis endemic region in the Democratic Republic of the Congo (DRC.An epilepsy prevalence study was carried out in 2014, in two localities of the Bas-Uélé district, an onchocerciasis endemic region in the Orientale Province of the DRC. Risk factors for epilepsy were identified using a random effects logistic regression model and the distribution of epilepsy cases was investigated using the Moran's I statistic of spatial auto-correlation.Among the 12,776 individuals of Dingila, 373 (2.9% individuals with epilepsy were identified. In a house-to-house survey in Titule, 68 (2.3% of the 2,908 people who participated in the survey were found to present episodes of epilepsy. Epilepsy showed a marked spatial pattern with clustering of cases occurring within and between adjacent households. Individual risk of epilepsy was found to be associated with living close to the nearest fast flowing river where blackflies (Diptera: Simuliidae-the vector of Onchocerca volvulus-oviposit and breed.The prevalence of epilepsy in villages in the Bas-Uélé district in the DRC was higher than in non-onchocerciasis endemic regions in Africa. Living close to a blackflies infested river was found to be a risk factor for epilepsy.

  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. Epilepsy in Adults with TSC

    Science.gov (United States)

    ... International TSC Research Conference Text Size Get Involved EPILEPSY IN ADULTS WITH TSC Download a PDF of ... age, including either new-onset seizures or ongoing epilepsy. Recent studies indicate that more than 80% of ...

  8. 77 FR 59197 - Epilepsy Program

    Science.gov (United States)

    2012-09-26

    ... HUMAN SERVICES Health Resources and Services Administration Epilepsy Program AGENCY: Health Resources... to the Epilepsy Foundation of America. SUMMARY: The Health Resources and Services Administration will be issuing noncompetitive supplemental funding under the Maternal and Child Health Bureau's...

  9. Clinical characteristics of adult epilepsy patients in the 1997 Hong Kong epilepsy registry

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective To study the clinical characteristics of 2952 patients with epilepsy who had received drug treatment from the neurology outpatient clinics of eight major hospitals in Hong Kong. Methods Retrospective review of outpatient records. Results 1601 (54.3%) males and 1351 (45.7%) females with a median age of 35.8 years (range, 10-94.8) were studied. Seizure types included generalized tonic-clonic in 80.7% of patients, complex partial in 28.3%, simple partial in 14.4%, atypical absence in 2.6% and myoclonic in 1.4%, and 30.4% of patients had more than one seizure type. EEG, CT brain, MRI brain and neuropsychological evaluation were obtained in 81.2%, 61.7%, 17.0% and 2.2% of patients, respectively. The etiology of epilepsy was cryptogenic in 59.9%, symptomatic in 35.1% and idiopathic in 3.9%; the commonest were intracranial infection, cerebral vascular disease, cranial trauma and perinatal insult. Phenytoin, carbamazepine and valproate were the most frequently used drugs and 25.9% of patients were taking more than two drugs. 48.3% of patients had active seizures in the past six months and 26.4% were considered to have unsatisfactory control of their epilepsy. Medical refractoriness of epilepsy was associated with a history of perinatal insult, intracranial infection, congenital brain malformation, intracranial neoplasm, cerebral vascular disease, hippocampal sclerosis, mental retardation and a history of status epilepticus (P<0.05). Conclusion In this local cohort of adult patients with epilepsy under specialist care, there were a considerable number of patients falling into the category of cryptogenic epilepsy. Risk factors associated with medical refractoriness are similar to previous studies.

  10. National epilepsy movement in Brazil

    OpenAIRE

    P T Fernandes; Noronha, A. L. A.; Sander, J. W.; L. M. Li

    2007-01-01

    Purpose: To establish a social network of epilepsy lay organization in Brazil to provide advocacy for people with epilepsy and eventually forma powerful National Epilepsy movement. Method.-We actively searched for any associations, support groups or organizations related to epilepsy in the country by personal contacts, internet search and by telephone search. Contact was then established with any entity found. Results: The first meeting was held in Campinas in March 2003, and was attended by ...

  11. 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.

  12. 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.

  13. Rhythm and blues: animal models of epilepsy and depression comorbidity.

    Science.gov (United States)

    Epps, S Alisha; Weinshenker, David

    2013-01-15

    Clinical evidence shows a strong, bidirectional comorbidity between depression and epilepsy that is associated with decreased quality of life and responsivity to pharmacotherapies. At present, the neurobiological underpinnings of this comorbidity remain hazy. To complicate matters, anticonvulsant drugs can cause mood disturbances, while antidepressant drugs can lower seizure threshold, making it difficult to treat patients suffering from both depression and epilepsy. Animal models have been created to untangle the mechanisms behind the relationship between these disorders and to serve as screening tools for new therapies targeted to treat both simultaneously. These animal models are based on chemical interventions (e.g. pentylenetetrazol, kainic acid, pilocarpine), electrical stimulations (e.g. kindling, electroshock), and genetic/selective breeding paradigms (e.g. genetically epilepsy-prone rats (GEPRs), genetic absence epilepsy rat from Strasbourg (GAERS), WAG/Rij rats, swim lo-active rats (SwLo)). Studies on these animal models point to some potential mechanisms that could explain epilepsy and depression comorbidity, such as various components of the dopaminergic, noradrenergic, serotonergic, and GABAergic systems, as well as key brain regions, like the amygdala and hippocampus. These models have also been used to screen possible therapies. The purpose of the present review is to highlight the importance of animal models in research on comorbid epilepsy and depression and to explore the contributions of these models to our understanding of the mechanisms and potential treatments for these disorders.

  14. Idiopathic childhood occipital epilepsy of Gastaut: report of 12 patients.

    Science.gov (United States)

    Wakamoto, Hiroyuki; Nagao, Hideo; Fukuda, Mitsumasa; Watanabe, Shohei; Motoki, Takahiro; Ohmori, Hiromitsu; Ishii, Eiichi

    2011-03-01

    This study sought to present clinical and outcome data of patients with idiopathic childhood occipital epilepsy of Gastaut, to validate previously reported characteristics of this epilepsy. The study group was comprised of 12 affected children (three boys and nine girls), with a median age of onset at 10.3 years. Common ictal manifestations included elementary visual hallucinations (75.0%), blindness or blurring of vision (50.0%), headache (50.0%), and secondarily generalized tonic-clonic seizures (58.3%). Interictal electroencephalography revealed occipital spike-wave paroxysms reactive to eye closure and opening in all patients, accompanied by spike-wave activity in the extra-occipital areas in four (33.3%), and by generalized spike-wave discharges in two (16.7%). One patient exhibited the onset of occipital lobe seizures 1 year after manifesting absence epilepsy. Seizure remission occurred in 81.8% of cases, in half of which medication was discontinued by late adolescence. This study confirmed the previously delineated electroclinical features of epilepsy syndrome, with additional aspects including the frequent association of generalized tonic-clonic seizures and atypical evolution from childhood absence epilepsy.

  15. 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.

  16. Ego functions in epilepsy

    DEFF Research Database (Denmark)

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

    1988-01-01

    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......, to a lesser extent, compared with the psoriasis group. Areas of ego functioning most affected were "reality testing", "cognitive functioning", "integrative functioning" and "regulation and control of drives". Patients with more than one type of seizure were the most affected, as were patients who were younger...... 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...

  17. Infertility treatment and umbilical cord length-novel markers of childhood epilepsy?

    Directory of Open Access Journals (Sweden)

    Sari Räisänen

    Full Text Available BACKGROUND: Epilepsy is one of the most common neurologic disorders of childhood, affecting about 0.4-0.8% of all children up to the age of 20. METHODOLOGY: A population-based retrospective cohort study. Aim was to determine incidence and identify perinatal and reproductive risk factors of epilepsy in children born between 1989 and 2008 among women (n = 43,389 delivered in Kuopio University Hospital. Risk factors of childhood epilepsy were determined by using logistic regression analysis. PRINCIPAL FINDINGS: The incidence of childhood epilepsy was 0.7% (n = 302 of 43,389. Maternal epilepsy, major congenital anomalies and use of assisted reproductive technology (ART were associated with 4.25-, 3.61-, and 1.67- fold increased incidence of childhood epilepsy. A 10 cm increase in umbilical cord length was associated with a 15% decrease in the incidence of epilepsy (adjusted OR 0.85, 95% CI 0.78-0.94. However, the above reproductive factors accounted for less than 2% of total incidence, whereas maternal epilepsy proved to be the highest risk factor. CONCLUSIONS: Perinatal and reproductive factors were shown to be minor risk factors of childhood epilepsy, implying that little can be done in obstetric care to prevent childhood epilepsy. Infertility treatment and umbilical cord length, independent of gestational age and congenital malformations, may be novel markers of childhood epilepsy.

  18. Adenosinergic signaling in epilepsy.

    Science.gov (United States)

    Boison, Detlev

    2016-05-01

    Despite the introduction of at least 20 new antiepileptic drugs (AEDs) into clinical practice over the past decades, about one third of all epilepsies remain refractory to conventional forms of treatment. In addition, currently used AEDs have been developed to suppress neuronal hyperexcitability, but not necessarily to address pathogenic mechanisms involved in epilepsy development or progression (epileptogenesis). For those reasons endogenous seizure control mechanisms of the brain may provide alternative therapeutic opportunities. Adenosine is a well characterized endogenous anticonvulsant and seizure terminator of the brain. Several lines of evidence suggest that endogenous adenosine-mediated seizure control mechanisms fail in chronic epilepsy, whereas therapeutic adenosine augmentation effectively prevents epileptic seizures, even those that are refractory to conventional AEDs. New findings demonstrate that dysregulation of adenosinergic mechanisms are intricately involved in the development of epilepsy and its comorbidities, whereas adenosine-associated epigenetic mechanisms may play a role in epileptogenesis. The first goal of this review is to discuss how maladaptive changes of adenosinergic mechanisms contribute to the expression of seizures (ictogenesis) and the development of epilepsy (epileptogenesis) by focusing on pharmacological (adenosine receptor dependent) and biochemical (adenosine receptor independent) mechanisms as well as on enzymatic and transport based mechanisms that control the availability (homeostasis) of adenosine. The second goal of this review is to highlight innovative adenosine-based opportunities for therapeutic intervention aimed at reconstructing normal adenosine function and signaling for improved seizure control in chronic epilepsy. New findings suggest that transient adenosine augmentation can have lasting epigenetic effects with disease modifying and antiepileptogenic outcome. This article is part of the Special Issue entitled

  19. Epilepsy in dental practice.

    Science.gov (United States)

    Fitzpatrick, J J; McArdle, N S; Wilson, M H; Stassen, L F A

    2008-01-01

    Epilepsy is a neurological condition characterised by seizure activity. It has an approximate incidence of 1%. General dental practitioners will encounter these patients in practice. This article discusses the types of epilepsy, the medical management and considerations in dental management of epileptic patients. General recommendations are made, based on current evidence, with respect to prescribing of medications. The management of an epileptic seizure is discussed. Status epilepticus is a rare but serious complication of epileptic seizures. An easy-to-follow algorithm is provided to assist the practitioner in managing seizures.

  20. 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.

  1. Epilepsy and bathtub drowning. Important neuropathological observations.

    Science.gov (United States)

    Saxena, A; Ang, L C

    1993-06-01

    Drowning is a well-recognized cause of death in persons with epilepsy. Investigation of bathtub drowning is often not straightforward. We report three cases of bathtub water drowning of patients with neuropathological bases for seizures. The importance of neuropathological examination is discussed. A high index of suspicion is required for all cases of bathtub-related death, even in the absence of history of previous seizure disorders. Neuropathological examination must be performed to look for anatomical lesions associated with seizures. Identification of these findings could be very helpful in ruling out homicide or suicide as the cause of death in bathtub drownings.

  2. 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.

  3. 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.

  4. Epilepsy, behavior, and art (Epilepsy, Brain, and Mind, part 1).

    Science.gov (United States)

    Rektor, Ivan; Schachter, Steven C; Arzy, Shahar; Baloyannis, Stavros J; Bazil, Carl; Brázdil, Milan; Engel, Jerome; Helmstaedter, Gerhard; Hesdorffer, Dale C; Jones-Gotman, Marilyn; Kesner, Ladislav; Komárek, Vladimír; Krämer, Günter; Leppik, Ilo E; Mann, Michael W; Mula, Marco; Risse, Gail L; Stoker, Guy W; Kasteleijn-Nolst Trenité, Dorothée G A; Trimble, Michael; Tyrliková, Ivana; Korczyn, Amos D

    2013-08-01

    Epilepsy is both a disease of the brain and the mind. Brain diseases, structural and/or functional, underlie the appearance of epilepsy, but the notion of epilepsy is larger and cannot be reduced exclusively to the brain. We can therefore look at epilepsy from two angles. The first perspective is intrinsic: the etiology and pathophysiology, problems of therapy, impact on the brain networks, and the "mind" aspects of brain functions - cognitive, emotional, and affective. The second perspective is extrinsic: the social interactions of the person with epilepsy, the influence of the surrounding environment, and the influences of epilepsy on society. All these aspects reaching far beyond the pure biological nature of epilepsy have been the topics of two International Congresses of Epilepsy, Brain, and Mind that were held in Prague, Czech Republic, in 2010 and 2012 (the third Congress will be held in Brno, Czech Republic on April 3-5, 2014; www.epilepsy-brain-mind2014.eu). Here, we present the first of two papers with extended summaries of selected presentations of the 2012 Congress that focused on epilepsy, behavior, and art.

  5. Mobile EEG in epilepsy

    NARCIS (Netherlands)

    Askamp, Jessica; Putten, van M.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 t

  6. 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 ...

  7. 20.5.Epilepsy

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    920184 Clinical analysis of 25 cases ofchronic alcoholic intoxication with epilepsy.PANG Zhixing (庞治兴),et al.Dept Psychol,1stTeaching Hosp.Norman Bethune Med Univ,130021 Chin J Nerv & Ment Dis 1991; 17 (5):289-291.The clinical manifestations of 25 cases (male)

  8. 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...

  9. 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...

  10. 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.

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

    DEFF Research Database (Denmark)

    Rusbridge, Clare; Long, Sam; Jovanovik, Jelena

    2015-01-01

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

  12. 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.

  13. Investigational new drugs for focal epilepsy.

    Science.gov (United States)

    Mula, Marco

    2016-01-01

    For more than 30 years, antiepileptic drug development has been based on specific assumptions regarding the neurobiology of epilepsy but all marketed drugs have not changed the proportion of drug refractory patients. It is, therefore, evident that new molecular targets need to be identified. Advances in neurobiology and molecular pharmacology are bringing into the epilepsy field new neurochemical functions such as those modulated by cannabinoid, serotonin, melatonin and galanin receptors. Among all the different compounds, the melatonin type 3 receptor agonist beprodone and cannabidiol are those at the more advanced stage of development. Interestingly, despite the structural analogies with tetrahydrocannabinol, the anticonvulsant activity of cannabidiol is not mediated by an interaction with cannabinoid receptors. Neurosteroids represent another remarkable class of drugs, and among them, ganaxolone is at the most advanced stage of development. Furthermore, for the first time, potential disease-modifying agents and techniques are entering the epilepsy market. Rapalogues such as everolimus and the antibiotic minocycline are currently under development for specific epileptic syndromes like tuberous sclerosis or Angelman syndrome. Finally, optogenetics, though still at an early stage of development, represents a futuristic therapeutic strategy for drug-refractory epilepsy.

  14. Catamenial epilepsy: definition, prevalence pathophysiology and treatment.

    Science.gov (United States)

    Herzog, Andrew G

    2008-03-01

    Seizures do not occur randomly. They tend to cluster in the majority of men and women with epilepsy. Seizure clusters, in turn, often show a periodicity. When the periodicity of seizure exacerbation aligns itself with that of the menstrual cycle, it is designated as catamenial epilepsy. The neuroactive properties of reproductive steroids and the cyclic variation in their serum concentrations are important pathophysiologic factors. Recent investigations have demonstrated and confirmed the existence of at least three patterns of catamenial seizure exacerbation: perimenstrual and periovulatory in ovulatory cycles and entire luteal phase in anovulatory cycles. A rational mathematical basis for the categorization of seizure exacerbation as catamenial epilepsy has been developed. It identifies approximately one third of women as having catamenial epilepsy. If seizures show hormonal sensitivity in their occurrence, they may also respond to hormonal treatment. Successful open label trials using cyclic natural progesterone supplement, depomedroxyprogesterone and gonadotropin-releasing hormone analogues in women and using testosterone with or without aromatase inhibitor in men have been reported. Prospective, randomized, placebo-controlled, double-blind investigations are warranted and under way.

  15. Non-invasive Evaluation for Epilepsy Surgery

    Science.gov (United States)

    IWASAKI, Masaki; JIN, Kazutaka; NAKASATO, Nobukazu; TOMINAGA, Teiji

    2016-01-01

    Epilepsy surgery is aimed to remove the brain tissues that are indispensable for generating patient’s epileptic seizures. There are two purposes in the pre-operative evaluation: localization of the epileptogenic zone and localization of function. Surgery is planned to remove possible epileptogenic zone while preserving functional area. Since no single diagnostic modality is superior to others in identifying and localizing the epileptogenic zone, multiple non-invasive evaluations are performed to estimate the location of the epileptogenic zone after concordance between evaluations. Essential components of non-invasive pre-surgical evaluation of epilepsy include detailed clinical history, long-term video-electroencephalography monitoring, epilepsy-protocol magnetic resonance imaging (MRI), and neuropsychological testing. However, a significant portion of drug-resistant epilepsy is associated with no or subtle MRI lesions or with ambiguous electro-clinical signs. Additional evaluations including fluoro-deoxy glucose positron emission tomography (FDG-PET), magnetoencephalography and ictal single photon emission computed tomography can play critical roles in planning surgery. FDG-PET should be registered on three-dimensional MRI for better detection of focal cortical dysplasia. All diagnostic tools are complementary to each other in defining the epileptogenic zone, so that it is always important to reassess the data based on other results to pick up or confirm subtle abnormalities. PMID:27627857

  16. Calcium ion channel and epilepsy

    Institute of Scientific and Technical Information of China (English)

    Yudan Lü; Weihong Lin; Dihui Ma

    2006-01-01

    OBJECTIVE: To review the relationship between calcium ion channel and epilepsy for well investigating the pathogenesis of epilepsy and probing into the new therapeutic pathway of epilepsy.DATA SOURCES: A computer-based online research Calcium ion channel and epilepsy related articles published between January 1994 and December 2006 in the CKNI and Wanfang database with the key words of "calcium influxion, epilepsy, calcium-channel blocker". The language was limited to Chinese. At the same time,related articles published between January 1993 and December 2006 in Pubmed were searched for on online with the key words of "calcium influxion, epilepsy" in English.STUDY SELECTION: The materials were selected firstly. Inclusive criteria: ① Studies related to calcium ion channel and the pat1hogenesis of epilepsy. ② Studies on the application of calcium ion channel blocker in the treatment of epilepsy. Exclusive criteria: repetitive or irrelated studies.DATA EXTRACTION: According to the criteria, 123 articles were retrieved and 93 were excluded due to repetitive or irrelated studies. Altogether 30 articles met the inclusive criteria, 11 of them were about the structure and characters of calcium ion channel, 10 about calcium ion channel and the pathogenesis of epilepsy and 9 about calcium blocker and the treatment of epilepsy.DATA SYNTHESIS: Calcium ion channels mainly consist of voltage dependent calcium channel and receptor operated calcium channel. Depolarization caused by voltage gating channel-induced influxion is the pathological basis of epileptic attack, and it is found in many studies that many anti-epileptic drugs have potential and direct effect to rivalizing voltage-dependent calcium ion channel.CONCLUSION: Calcium influxion plays an important role in the seizure of epilepsy. Some calcium antagonists seen commonly are being tried in the clinical therapy of epilepsy that is being explored, not applied in clinical practice. If there are enough evidences to

  17. Epilepsy - what to ask your doctor - child

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000222.htm Epilepsy - what to ask your doctor - child To use ... this page, please enable JavaScript. Your child has epilepsy. Children with epilepsy have seizures. A seizure is ...

  18. Genetics Home Reference: Lafora progressive myoclonus epilepsy

    Science.gov (United States)

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

  19. Genetics Home Reference: pyridoxine-dependent epilepsy

    Science.gov (United States)

    ... Home Health Conditions pyridoxine-dependent epilepsy pyridoxine-dependent epilepsy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ...

  20. Future directions in the neuropsychology of epilepsy.

    Science.gov (United States)

    McDonald, Carrie R; Taylor, Joanne; Hamberger, Marla; Helmstaedter, Christoph; Hermann, Bruce P; Schefft, Bruce

    2011-09-01

    Two important themes for future clinical research in the neuropsychology of epilepsy are proposed: (1) the neurobiological abnormalities that underlie neuropsychological impairment in people with epilepsy, and (2) neuropsychological status of persons with new-onset epilepsy.

  1. Developing clinical practice guidelines for epilepsy: A report from the ILAE Epilepsy Guidelines Working Group.

    Science.gov (United States)

    Sauro, Khara M; Wiebe, Samuel; Perucca, Emilio; French, Jacqueline; Dunkley, Colin; de Marinis, Alejandro; Kirkpatrick, Martin; Jetté, Nathalie

    2015-12-01

    Clinical practice guidelines (CPGs) contain evidence-based recommendations to guide clinical care, policy development, and quality of care improvement. A recent systematic review of epilepsy guidelines identified considerable variability in the quality of available guidelines. Although excellent frameworks for CPG development exist, processes are not followed uniformly internationally, and resources to develop CPGs may be limited in certain settings. An International League Against Epilepsy (ILAE) working group was charged with proposing methodology to guide the development of future epilepsy-specific CPGs. A comprehensive literature search (1985-2014) identified articles related to CPG development and handbooks. Guideline handbooks were included if they were publicly available, and if their methodology had been used to develop CPGs. The working group's expertise also informed the creation of methodologies and processes to develop future CPGs for the ILAE. Five handbooks from North America (American Academy of Neurology), Europe (Scottish Intercollegiate Guidelines Network & National Institute for Health and Care Excellence), Australia (National Health and Medical Research Council), World Health Organization (WHO), and additional references were identified to produce evidence-based, consensus-driven methodology for development of epilepsy-specific CPGs. Key components of CPG development include the following: identifying the topic and defining the scope; establishing a working group; identifying and evaluating the evidence; formulating recommendations and determining strength of recommendations; obtaining peer reviews; dissemination, implementation, and auditing; and updating and retiring the CPG. A practical handbook and toolkit was developed. The resulting CPG development toolkit should facilitate the development of high-quality ILAE CPGs to improve the care of persons with epilepsy.

  2. 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.

  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. Classification of seizures and epilepsy.

    Science.gov (United States)

    Riviello, James J

    2003-07-01

    The management of seizures and epilepsy begins with forming a differential diagnosis, making the diagnosis, and then classifying seizure type and epileptic syndrome. Classification guides treatment, including ancillary testing, management, prognosis, and if needed, selection of the appropriate antiepileptic drug (AED). Many AEDs are available, and certain seizure types or epilepsy syndromes respond to specific AEDs. The identification of the genetics, molecular basis, and pathophysiologic mechanisms of epilepsy has resulted from classification of specific epileptic syndromes. The classification system used by the International League Against Epilepsy is periodically revised. The proposed revision changes the classification emphasis from the anatomic origin of seizures (focal vs generalized) to seizure semiology (ie, the signs or clinical manifestations). Modified systems have been developed for specific circumstances (eg, neonatal seizures, infantile seizures, status epilepticus, and epilepsy surgery). This article reviews seizure and epilepsy classification, emphasizing new data.

  6. 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.

  7. 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.

  8. Parkinson's Disease and Cryptogenic Epilepsy.

    Science.gov (United States)

    Son, Andre Y; Biagioni, Milton C; Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49-85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  9. Parkinson's Disease and Cryptogenic Epilepsy

    Science.gov (United States)

    Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association. PMID:27688919

  10. 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.

  11. The influence of managers' and colleagues' absence on public employee absence

    DEFF Research Database (Denmark)

    Møller, Ann-Kristina Løkke; Jensen, Morten Berg

    2015-01-01

    public sector employees (De Paola, 2010). Research on the effect of managers’ own absence on their employees’ absence is scarce (Kristensen et al., 2006, Løkke, 2008) and so is the effect of colleagues’ absence in a large scale (Bradley et al., 2007, Dale-Olsen et al., 2010, Hesselius et al., 2009......). To date, research on the simultaneous effect of managers’ and colleagues’ absence behavior does not exist. The most acknowledged literature on absence (e.g., Steers and Rhodes, 1978) concludes that absence is influenced by many determinants; this makes it relevant to control for gender, age etc. Aim......: The aim of this study is to identify the effect of managers’ and colleagues’ absence on employee absence in the public sector. Method: We use register data from a large Danish municipality including 8000 employees. We use multilevel analysis to explain the number of periods of absence due to sickness...

  12. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

    OpenAIRE

    1999-01-01

    AIMS—To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis.
METHODS—A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began after more than 28 days of life were excluded; in all, five patients from four fami...

  13. 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.

  14. Absence seizures with myoclonic features in a juvenile Chihuahua dog.

    Science.gov (United States)

    Poma, Roberto; Ochi, Ayako; Cortez, Miguel A

    2010-06-01

    Long-term video-EEG was recorded for an eight-month-old Chihuahua dog with recurrent episodes of altered behaviour associated with head and nose twitching. Each episode lasted one to two seconds, multiple times per day before treatment. Ictal EEG showed generalised bilaterally synchronous 4 Hz spike-and-wave complexes during the "absence-like" event, along with rhythmically correlated head and nose twitching. We present video documentation of such attacks and discuss their similarities to human epilepsy with myoclonic absences.

  15. Childhood epilepsy in Ilorin, Nigeria.

    Science.gov (United States)

    Ojuawo, A; Joiner, K T

    1997-02-01

    Ninety eight children with epilepsy attending the Neurology clinic, University of Ilorin Teaching Hospital over a two year period were studied prospectively. Males were more affected than females in a ratio of 5:3. Generalised tonic-clonic seizures accounted for 62.2% of the cases, and partial seizures for 17.4%. Infantile spasms were seen exclusively in infants less than two years old and absence and generalised seizures in children more than three years of age. Skull radiography showed abnormal findings in 11.2%. Ectroencephalography showed typical findings in 43.9%. Hemiplegia was the most common neurological sequelae (30.3%). Other sequelae include hyperactivity, irrational behaviour, expressive aphasia, mental subnormality, deafness, and blindness in that order. Therapy with a single appropriate anticonvulsant was usually effective for seizure control except in some patients with focal seizures, infantile spasms, severely delayed developmental milestones and prolonged seizures. Poor drug compliance remains the major constraint to adequate seizure control, further compounded in this environment by nonavailability of drugs and unaffordable costs.

  16. 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.

  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. [Dietary therapy of epilepsy].

    Science.gov (United States)

    Imai, Katsumi; Ishihara, Eiko; Ikeda, Hiroko

    2014-05-01

    Reappraisal of ketogenic diets (KD) were delayed in Japan compared to USA and Korea. The reasons are unknown, but possible explanations are (1) Japanese food culture prefers rice and less fat and (2) ACTH therapy is preferred for West syndrome in Japan. Since Japanese child neurologists were surprised at dramatic effects on glucose transporter 1 deficiency syndrome (Glut-1DS) in 2003, KD have been slowly accepted for treatment of epilepsy in Japan. New generation KD including modified Atkins diet (mAD) are preferred to classical KD. KD can be causal therapy in Glut-1DS and some of mitochondrial disorders, though anti-epileptic drugs are symptomatic therapy. KD can alleviate intractable seizures in epilepsies with brain malformation in addition to West syndrome and Dravet syndrome, etc. KD may work for brain tumor, cancer, neurodegenerative disorders including Alzheimer's disease. C7-8 triglycerides or fatty acid esters are under development as medicines replacing KD.

  19. [Biofeedback treatment for epilepsy].

    Science.gov (United States)

    Nagai, Yoko

    2014-05-01

    Pharmacological treatment is the mainstay for the treatment of epilepsy. However concerns regarding long-term side effects of drugs are increasingly voiced. Behavioral treatments including biofeedback, represents an alternative management option for the control of epilepsy. Biofeedback is a non-invasive bio-behavioral procedure through which patients can learn to gain psychophysiological control over seizures. This article will first overview seizure precipitation from a psychological perspective, and then introduce three major biofeedback treatments. Sensory motor rhythm (SMR) and slow cortical potential(SCP) biofeedback uses electroencephalographic parameters and are categorized as neurofeedback. Electrodermal activity (EDA) biofeedback focuses on modulation of peripheral sympathetic tone. The neural mechanisms underlying biofeedback treatment will be discussed in relation to thalamo-cortical regulation(of neural excitability across brain networks).

  20. 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.

  1. Die Psychosen bei Epilepsie

    Directory of Open Access Journals (Sweden)

    Glauninger G

    2001-01-01

    Full Text Available In einer Übersicht werden die verschiedenen Formen psychotischer Zustandsbilder bei Epilepsiepatienten, deren Ätiopathogenese und Möglichkeiten der Behandlung dieser Störungen beschrieben. Risikofaktoren finden sich durch neurobiologische Gegebenheiten - besonders bei Mitbeteiligung des Temporallappens, durch psychosoziale Einflüsse und manchmal auch durch medikamentöse Behandlung. Anhand von Fallbeispielen sollen dem Leser typische Krankheitsverläufe von psychotischen Episoden bei Epilepsiepatienten, die zumeist erst bei einer schon länger dauernden Epilepsie auftreten, nähergebracht werden. Es wird deutlich, daß sich die Beschwerden von Patienten mit Epilepsie nicht auf iktale Phänomene beschränken. Bei der Behandlung dieser Patienten kommt einer guten interdisziplinären Zusammenarbeit besondere Bedeutung zu.

  2. Epilepsy in Prader-Willi syndrome:clinical, diagnostic and treatment aspects

    Institute of Scientific and Technical Information of China (English)

    Alberto Verrotti; Claudia Soldani; Daniela Laino; Renato d'Alonzo; Salvatore Grosso

    2014-01-01

    Background: Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients. Data sources: Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy. Results: The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome. Conclusions: The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis.

  3. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

    Science.gov (United States)

    Fujiwara, Tateki

    2006-08-01

    Severe myoclonic epilepsy in infancy (SMEI) manifests very frequent generalized tonic-clonic seizures (GTC), accompanied by myoclonic seizures, absences and partial seizures [Dravet, C., 1978. Les épilepsie grave de l'enfant. Vie Méd. 8, 543-548; Dravet, C., Roger, J., Bureau, M., Dalla Bernardina, B., 1982. Myoclonic epilepsies in childhood. In: Akimoto, H., Kazamatsuri, H., Seino, M., Ward, A. (Eds.), Advances in Epileptology. Raven Press, New York, pp. 135-140; Dravet, C., Bureau, M., Oguni, H., Fukuyama, Y., Cokar, O., 2002. Severe myoclonic epilepsy of infancy (Dravet syndrome). In: Roger, J., Bureau, M., Dravet, C., Genton, P., Tassinari, C.A., Wolf, P. (Eds.), Epileptic Syndromes in Infancy, Childhood and Adolescence, third ed. John Libbey, London, pp. 81-103]. However, there is a group of severe epilepsy that has many characteristics common to SMEI except for myoclonic seizures. We reported this group of epilepsy as intractable childhood epilepsy with GTC (ICEGTC) [Watanabe, M., Fujiwara, T., Yagi, K., Seino, M., Higashi, T., 1989b. Intractable childhood epilepsy with generalized tonic-clonic seizures. J. Jpn. Epil. Soc. 7, 96-105 (in Japanese); Fujiwara, T., Watanabe, M., Takahashi, Y., Higashi, T., Yagi, K., Seino, M., 1992. Long-term course of childhood epilepsy with intractable grand mal seizures. Jpn. J. Psychiatr. Neurol. 46, 297-302]. Recently, mutations of the neuronal voltage-gated sodium channel alphasubunit type 1 gene (SCN1A) have been found in SMEI [Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P., 2001, De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 327-1332]. Mutations in SCN1A are found in both SMEI and ICEGTC at high rates of 70-81%. The loci of the mutations seen in ICEGTC are quite similar to those found in SMEI, suggesting a genotypic continuity between these entities. The clinical spectrum of epilepsies harboring SCN1A

  4. Tuberous Sclerosis with Epilepsy

    Science.gov (United States)

    2009-02-01

    50% of individuals with TS have learning difficulties that include autism , attention-deficit hyperactivity disorder (ADHD), behavioral issues...These findings of TS manifest themselves symptomatically as seizures, epilepsy, and learning disabilities including autism , ADHD, behavioral...molecular pathogenesis to rationale for treatment”. J Child Neurol 2005; 20:318 –325. 15) Chandra PS, Salamon N, Huang J, et al. “FDG-PET/MRI

  5. PET studies in epilepsy

    OpenAIRE

    Sarikaya, Ismet

    2015-01-01

    Various PET studies, such as measurements of glucose, serotonin and oxygen metabolism, cerebral blood flow and receptor bindings are availabe for epilepsy. 18Fluoro-2-deoxyglucose (18F-FDG) PET imaging of brain glucose metabolism is a well established and widely available technique. Studies have demonstrated that the sensitivity of interictal FDG-PET is higher than interictal SPECT and similar to ictal SPECT for the lateralization and localization of epileptogenic foci in presurgical patients...

  6. Epilepsie und polyzystisches Ovarialsyndrom

    Directory of Open Access Journals (Sweden)

    Rösing B

    2012-01-01

    Full Text Available Epilepsien sind gehäuft mit endokrinen Funktionsstörungen vergesellschaftet. Bei Frauen gehören Zyklusstörungen, Hyperandrogenismus, Gewichtszunahme und Subfertilität dazu. Die vorliegende Übersicht zeigt aktuelle Daten und pathophysiologische Vorstellungen zum Zusammenhang zwischen einer Erkrankung mit Epilepsie, ihrer Therapie, dem polyzstischen Ovarialsyndrom (PCOS, sowie assoziierten metabolischen Abweichungen. Mögliche Ursachen für das Auftreten endokriner Störungen bei Epilepsie sind (1. der direkte Einfluss temporal gelegener epileptogener Läsionen oder der antiepileptischen Medikamente (AED auf die hypothalamisch-hypophysär gonadale Achse (HHG, (2. der Einfluss von AED auf die ovarielle Funktion, (3. der Einfluss der AED auf den Steroidhormonmetabolismus inklusive ihrer Serumeiweißbindung und (4. AED-bedingte sekundäre endokrine Störungen durch Gewichtszunahme und veränderten Insulinmetabolismus. Die regelmäßige ärztliche Kontrolle klinischer endokriner Parameter wie Gewichtsentwicklung, Regeltempostörungen und Hirsutismus ist bei Frauen mit Epilepsie obligat. Einzelne auffällige Laborparameter (z. B. sinkendes sexualhormonbindendes Globulin [SHBG], ansteigende Testosteronwerte, Dysbalance der Gonadotropine luteinisierendes Hormon zu follikelstimulierendem Hormon (LH/FSH oder bildgebende Befunde (polyzystische Ovarien ohne klinisches Korrelat sollten engmaschig, zunächst 1–3-monatlich kontrolliert werden, um entstehende Endokrinopathien frühzeitig behandeln zu können.

  7. Neuropeptides in epilepsy.

    Science.gov (United States)

    Kovac, Stjepana; Walker, Matthew C

    2013-12-01

    Neuropeptides play an important role in modulating seizures and epilepsy. Unlike neurotransmitters which operate on a millisecond time-scale, neuropeptides have longer half lives; this leads to modulation of neuronal and network activity over prolonged periods, so contributing to setting the seizure threshold. Most neuropeptides are stored in large dense vesicles and co-localize with inhibitory interneurons. They are released upon high frequency stimulation making them attractive targets for modulation of seizures, during which high frequency discharges occur. Numerous neuropeptides have been implicated in epilepsy; one, ACTH, is already used in clinical practice to suppress seizures. Here, we concentrate on neuropeptides that have a direct effect on seizures, and for which therapeutic interventions are being developed. We have thus reviewed the abundant reports that support a role for neuropeptide Y (NPY), galanin, ghrelin, somatostatin and dynorphin in suppressing seizures and epileptogenesis, and for tachykinins having pro-epileptic effects. Most in vitro and in vivo studies are performed in hippocampal tissue in which receptor expression is usually high, making translation to other brain areas less clear. We highlight recent therapeutic strategies to treat epilepsy with neuropeptides, which are based on viral vector technology, and outline how such interventions need to be refined in order to address human disease.

  8. 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.

  9. 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.

  10. 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...

  11. 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…

  12. Mapping preictal networks preceding childhood absence seizures using magnetoencephalography.

    Science.gov (United States)

    Jacobs-Brichford, Eliza; Horn, Paul S; Tenney, Jeffrey R

    2014-10-01

    The electrographic hallmark of childhood absence seizures is 3 Hz generalized spike and wave discharges; however, there is likely a focal thalamic or cortical onset that cannot be detected using scalp electroencephalography (EEG). The purpose of this study was to study the earliest preictal changes in children with absence epilepsy. In this report, magnetoencephalography recordings of 44 absence seizures recorded from 12 children with drug-naïve childhood absence seizures were used to perform time frequency analysis and source localization prior to the onset of the seizures. Evidence of preictal magnetoencephalography frequency changes were detected a mean of 694 ms before the initial spike on the EEG. A consistent pattern of focal sources was present in the frontal cortex and thalamus during this preictal period, but source localization occurred synchronously so that independent activity between the 2 structures could not be distinguished.

  13. Multimodal neuroimaging in presurgical evaluation of drug-resistant epilepsy

    Directory of Open Access Journals (Sweden)

    Jing Zhang

    2014-01-01

    Full Text Available Intracranial EEG (icEEG monitoring is critical in epilepsy surgical planning, but it has limitations. The advances of neuroimaging have made it possible to reveal epileptic abnormalities that could not be identified previously and improve the localization of the seizure focus and the vital cortex. A frequently asked question in the field is whether non-invasive neuroimaging could replace invasive icEEG or reduce the need for icEEG in presurgical evaluation. This review considers promising neuroimaging techniques in epilepsy presurgical assessment in order to address this question. In addition, due to large variations in the accuracies of neuroimaging across epilepsy centers, multicenter neuroimaging studies are reviewed, and there is much need for randomized controlled trials (RCTs to better reveal the utility of presurgical neuroimaging. The results of multiple studies indicate that non-invasive neuroimaging could not replace invasive icEEG in surgical planning especially in non-lesional or extratemporal lobe epilepsies, but it could reduce the need for icEEG in certain cases. With technical advances, multimodal neuroimaging may play a greater role in presurgical evaluation to reduce the costs and risks of epilepsy surgery, and provide surgical options for more patients with drug-resistant epilepsy.

  14. 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.

  15. 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.

  16. 20th Annual Meeting of the German-Austrian-Swiss Epilepsy Working Group

    Directory of Open Access Journals (Sweden)

    Stefan Hermann

    2014-12-01

    Full Text Available The stated purpose of the meeting was to summarize „current, new and proven approaches in diagnostics and epilepsy therapy”, to define optimal clinical practice and scientific research areas, highlight advances in clinical and basic science and to identify future approaches or directions in epilepsy treatment.

  17. 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.

  18. 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....

  19. Epilepsy and vaccinations: Italian guidelines.

    Science.gov (United States)

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

    2013-10-01

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

  20. [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.

  1. Gelastic epilepsy: Beyond hypothalamic hamartomas

    Directory of Open Access Journals (Sweden)

    Reinaldo Uribe-San-Martin

    2015-01-01

    Full Text Available Gelastic epilepsy or laughing seizures have been historically related to children with hypothalamic hamartomas. We report three adult patients who had gelastic epilepsy, defined as the presence of seizures with a prominent laugh component, including brain imaging, surface/invasive electroencephalography, positron emission tomography, and medical/surgical outcomes. None of the patients had hamartoma or other hypothalamic lesion. Two patients were classified as having refractory epilepsy (one had biopsy-proven neurocysticercosis and the other one hippocampal sclerosis and temporal cortical dysplasia. The third patient had no lesion on MRI and had complete control with carbamazepine. Both lesional patients underwent resective surgery, one with complete seizure control and the other one with poor outcome. Although hypothalamic hamartomas should always be ruled out in patients with gelastic epilepsy, laughing seizures can also arise from frontal and temporal lobe foci, which can be surgically removed. In addition, we present the first case of gelastic epilepsy due to neurocysticercosis.

  2. Application of adaptive nonlinear Granger causality: Disclosing network changes before and after absence seizure onset in a genetic rat model

    NARCIS (Netherlands)

    Sysoeva, M.V.; Sitnikova, E.Y.; Sysoev, I.V.; Bezruchko, B.P.; Luijtelaar, E.L.J.M. van

    2014-01-01

    Background: Advanced methods of signal analysis of the preictal and ictal activity dynamics characterizing absence epilepsy in humans with absences and in genetic animal models have revealed new and unknown electroencephalographic characteristics, that has led to new insights and theories. New metho

  3. 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....

  4. 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)...

  5. 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

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

  6. Absences of Community

    NARCIS (Netherlands)

    K.B. Benammar

    1994-01-01

    Humans always search for a sense of community, in order to transcent their individuality and project themselves as part of a group. This human craving is actually a desire for an absence of community; an "empty place to bury our ineradicable solitude", a form of universal community which is yet to c

  7. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  8. Epilepsy Prevalence in the 0-17 Age Group in Trabzon, Turkey

    Directory of Open Access Journals (Sweden)

    Murat Topbaş

    2012-09-01

    Full Text Available Objective: Epilepsy is a most common serious neurological disorder and is one of the world’s most prevalent non-communicable diseases. The aim of this study was to determine the prevalence and risk factors of epilepsy in 0–17 year old children in Trabzon, Turkey.Methods: A cross-sectional epidemiological investigation was performed in two phases, a screening phase and a confirmation of the diagnosis phase. The gold standard was a clinical investigation and neurological examination. The diagnosis of epilepsy followed clinical guidelines proposed by the International League against Epilepsy (ILAE. The chi-square test was used in analysis of the results and P-value <0.05 was calculated.Findings: The prevalence per 1000 participants of epilepsy was 8.6 (5.9–11.4; 95%CI. We detected 37 cases(18 males and 19 females of epilepsy. The male/female ratio was 0.95. This study showed an increased risk for epilepsy with low socioeconomic level, a history of postpartum seizure, meningitis, head trauma, febrile convulsion and family history of epilepsy. More than one seizure type was present in 15 (40.5% of epileptic children. Generalized tonic-clonic seizures were determined in 24 patients (64.9% and absence type in 9 (24.3%. It was found that 25.0% of children with epilepsy had never visited the school at the time the study was performed due to the disease and attendant seizures.Conclusion: The prevalence of epilepsy in Trabzon is low compared to other parts of Turkey and other developing countries.

  9. Epilepsie und psychiatrische Erkrankungen

    Directory of Open Access Journals (Sweden)

    Baumgartner C

    2008-01-01

    Full Text Available Psychiatrische Erkrankungen treten bei Epilepsiepatienten signifikant häufiger auf als in der Allgemeinbevölkerung und als bei Patienten mit anderen chronischen Erkrankungen. Die Depression stellt die häufigste psychiatrische Begleiterkrankung bei Epilepsie dar. Die Häufigkeit von Depressionen korreliert mit der Anfallskontrolle: Sie liegt zwischen 3 und 9 % bei gut kontrollierter Epilepsie, jedoch zwischen 20 und 55 % bei Patienten mit therapieresistenten Epilepsien. Umgekehrt ist bei Patienten mit neu diagnostizierten Epilepsien anamnestisch signifikant häufiger eine Depression zu erheben als in einem Vergleichskollektiv. Diese bidirektionale Beziehung zwischen Epilepsie und Depression könnte durch gemeinsame Pathomechanismen beider Erkrankungen erklärt werden. Obwohl das Vorliegen und der Schweregrad einer Depression die wichtigsten Prädiktoren für die Lebensqualität bei Epilepsiepatienten darstellen, werden Depressionen bei Epilepsiepatienten unterdiagnostiziert und unterbehandelt. Eine psychopharmakologische Behandlung sollte bei Vorliegen einer Begleitdepression deshalb unverzüglich initiiert werden, das epileptogene Potential von Antidepressiva stellt dabei ein vernachlässigbares Risiko dar. Die Prävalenz psychotischer Störungen bei Epilepsiepatienten liegt zwischen 2 und 8 %, wobei sogenannte episodische Psychosen (iktale, postiktale und Alternativpsychosen, die in einem zeitlichen Bezug zum Anfallsgeschehen stehen, und chronische Psychosen (interiktale Psychosen ohne zeitlichen Bezug zu den Anfällen, unterschieden werden können. Die Prävalenz von Angststörungen bei Epilepsiepatienten liegt zwischen 15 und 25 %. Man kann zwischen präiktaler, iktaler, postiktaler und interiktaler Angst unterscheiden.

  10. Epilepsy in Dante's poetry.

    Science.gov (United States)

    Mula, Marco

    2016-04-01

    Dante Alighieri is the greatest Italian poet and one of the most important writers in Western literature. He is best known for the epic poem "Commedia", later named "La Divina Commedia" that has profoundly influenced not only poetic imagination but also all subsequent allegorical creations of imaginary worlds in literature. This paper examines the poetic description of some episodes of loss of consciousness in Dante's poetry discussing how and why typical elements of epileptic seizures have been used. On the 750th anniversary of Dante's birth, his poetry still remains to be an inspiring source of debate and reflection. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity".

  11. Epilepsy and anxiety

    Directory of Open Access Journals (Sweden)

    Marly de Albuquerque

    1993-09-01

    Full Text Available We have analyzed 155 subjects with STAI (State-Trait Anxiety Inventory: 75 epileptic patients and 80 normal subjects used as a control group. A higher trait-anxiety score (chronic anxiety than that of controls was found for the epileptic group. For the epileptic group higher levels of the A-trait occurred in patients with EEG abnormalities with left temporal localization. We have also observed that the shorter the epilepsy lasts (less than two years, the higher the trait-anxiety levels. Convulsions and awareness loss during epileptic seizures do not modify state and trait-anxiety scores.

  12. 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.

  13. 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.

  14. 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

  15. Electrophysiology in epilepsy surgery: Roles and limitations

    Directory of Open Access Journals (Sweden)

    Edward H Bertram

    2014-01-01

    Full Text Available Successful epilepsy surgery depends on the localization of the seizure onset zone in an area of the brain that can be safely resected. Defining these zones uses multiple diagnostic approaches, which include different types of electroencephalography (EEG and imaging, and the results are best when all of the tests point to the same region. Although EEG obtained with scalp recordings is often sufficient for the purposes of localization, there are times when intracranial recordings directly from the brain are needed; but the planning, use, value, and interpretation of the these recordings are not standardized, in part because the questions that are to be answered vary considerably across many patients and their heterogenous types of epilepsy that are investigated. Furthermore, there is a desire to use the opportunity of direct brain recordings to understand the pathophysiology of epilepsy, as these recordings are viewed as an opportunity to answer questions that cannot be otherwise answered. In this review, we examine the situations that may require intracranial electrodes and discuss the broad issues that this powerful diagnostic tool can help address, for identifying the seizure focus and for understanding the large scale circuits of the seizures.

  16. Neuro-pharmacological functional MRI of epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Kiriyama, Hideki; Makabe, Tetsuo; Tomita, Susumu; Omoto, Takashi; Asari, Shoji [Okayama Univ. (Japan). School of Medicine; Aihara, Hiroshi; Kinugasa, Kazushi; Nishimoto, Akira; Ito, Takahiko

    2000-03-01

    We studied patients with epilepsy by neuro-pharmacological functional MRI technique using diazepam. Five normal volunteers and 7 patients with epilepsy were investigated. MRI was performed by a 1.5 T unit (SIGNA Horizon, GE) using the following parameters: TR/TE 5000 msec/80 msec, FA 90 deg, FOV 200 mm, matrix 128 x 128, slice thickness 7 mm. We performed MRI scanning over 5 minutes (2 minutes before and 3 minutes after injection of diazepam) for each 1 session; we scanned 3 sessions for each patient at intervals of 5 minutes. The diazepam was injected rapidly from the antecubital vein. The dose of diazepam was 0.05 mg/kg/injection (total dose was 0.15 mg/kg). The data were analyzed statistically using t-test. Signal change after administration of diazepam was less than 1 to 2% in healthy volunteers. By contrast, in patient with epilepsy, the signal change was almost 3%, which was significantly greater than that of the normal area (p=0.01). The neuro-pharmacological functional MRI technique using diazepam might be a useful method to identify epileptic foci. (author)

  17. 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

  18. "It's good to know": experiences of gene identification and result disclosure in familial epilepsies.

    Science.gov (United States)

    Vears, Danya F; Dunn, Karen L; Wake, Samantha A; Scheffer, Ingrid E

    2015-05-01

    Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epilepsy syndromes. There is limited research investigating the impact of gene identification on individuals and families with epilepsy. While research has focused on the impact of delivering genetic information to families at the time of diagnosis in genetic diseases more broadly, little is known about how genetic results in epileptic diseases influences people's lives many years after it has been conveyed. This study used qualitative methods to explore the experience of receiving a genetic result in people with familial epilepsy. Interviews were conducted with individuals with familial epilepsies in whom the underlying genetic mutation had been identified. Recorded interviews underwent thematic analysis. 20 individuals from three families with different epilepsy syndromes and causative genes were interviewed. Multiple generations within families were studied. The mean time from receiving the genetic result prior to interview was 10.9 years (range 5-14 years). Three major themes were identified: 1) living with epilepsy: an individual's experience of the severity of epilepsy in their family influenced their view. 2) Clinical utility of the test: participants expressed varying reactions to receiving a genetic result. While for some it provided helpful information and relief, others were not surprised by the finding given the familial context. Some valued the use of genetic information for reproductive decision-making, particularly in the setting of severely affected family members. While altruistic reasons for participating in genetic research were discussed, participants emphasised the benefit of participation to them and their families. 3) 'Talking about the family genes': individuals reported poor communication between family members about their epilepsy and its genetic implications. The results provide important insights into the family

  19. Epilepsy care in general practice.

    LENUS (Irish Health Repository)

    Varley, J

    2009-06-01

    Epilepsy care in Ireland is shared between primary, secondary and tertiary care services with the General Practitioner (GP) managing the process. Barriers to effective epilepsy care in Irish general practice remain undocumented although sub-optimal and fragmented services are frequently anecdotally reported. This survey of Irish GPs reports on such barriers to epilepsy care and on the Information & Communication Technology (ICT) issues potentially relevant to the use of an epilepsy specific Electronic Patient Record (EPR). The response rate was 247\\/700 (35.3%). Respondents supported the concept of shared care for epilepsy 237 (96%) however they were very dissatisfied with existing neurology services, including pathways of referral 207 (84%) and access to specialist neurology advice and investigations 232 (94%). They reported that neurology services and investigations may be accessed more expeditiously by patients with private health insurance than those without 178 (72%). Consequently many patients are referred to the emergency department for assessment and treatment 180 (73%). A deficit in epilepsy care expertise among GPs was acknowledged 86 (35%). While computerisation of GP practices appears widespread 230 (93%), just over half the respondents utilise available electronic functionalities specific to chronic disease management. GP specific electronic systems infrequently link or communicate with external electronic sources 133 (54%). While the current pathways of care for epilepsy in Ireland appear fragmented and inadequate, further investigations to determine the quality and cost effectiveness of the current service are required.

  20. Treatment of epilepsy in adults.

    Science.gov (United States)

    Burakgazi, Evren; French, Jacqueline A

    2016-09-01

    Epilepsy is a chronic neurological disorder in adults and requires treatment with antiepileptic medication. While the majority of patients with epilepsy can be treated with medication, about one third will fail on medical treatment. Therefore, other treatment options such as surgery, devices, and the ketogenic diet are other options to consider, in addition to medical treatment. The treatment of epilepsy requires many other factors to be taken into consideration, and these include, but are not limited to, age, gender, coexistent medical conditions, and the use of concomitant medications. The goal of treatment is to provide optimal seizure control while using the least possible number of medications, particularly for young females at reproductive age or the elderly who may suffer from other medical diseases and receive other concomitant medications. Certain conditions may co-exist with epilepsy, such as migraine, mood disorder, and memory disturbances, therefore the decision to choose the most appropriate medication for epilepsy patients should also involve treatment of these conditions. Here, we review current clinical practice in epilepsy and focus on the most common problems and conditions that clinicians face on a daily basis to treat adult patients with epilepsy. Side effect profiles, spectrum of efficacy and optimal choices per predominant type of seizures are summarized and can be used for educational purposes.

  1. Epilepsy care in general practice.

    Science.gov (United States)

    Varley, J; Fitzsimons, M; Delanty, N; Collins, C; Boland, M; Normand, C

    2009-06-01

    Epilepsy care in Ireland is shared between primary, secondary and tertiary care services with the General Practitioner (GP) managing the process. Barriers to effective epilepsy care in Irish general practice remain undocumented although sub-optimal and fragmented services are frequently anecdotally reported. This survey of Irish GPs reports on such barriers to epilepsy care and on the Information & Communication Technology (ICT) issues potentially relevant to the use of an epilepsy specific Electronic Patient Record (EPR). The response rate was 247/700 (35.3%). Respondents supported the concept of shared care for epilepsy 237 (96%) however they were very dissatisfied with existing neurology services, including pathways of referral 207 (84%) and access to specialist neurology advice and investigations 232 (94%). They reported that neurology services and investigations may be accessed more expeditiously by patients with private health insurance than those without 178 (72%). Consequently many patients are referred to the emergency department for assessment and treatment 180 (73%). A deficit in epilepsy care expertise among GPs was acknowledged 86 (35%). While computerisation of GP practices appears widespread 230 (93%), just over half the respondents utilise available electronic functionalities specific to chronic disease management. GP specific electronic systems infrequently link or communicate with external electronic sources 133 (54%). While the current pathways of care for epilepsy in Ireland appear fragmented and inadequate, further investigations to determine the quality and cost effectiveness of the current service are required.

  2. Managing epilepsy in pregnancy.

    Science.gov (United States)

    Thomas, Sanjeev V

    2011-01-01

    There are close to one and half million women with epilepsy (WWE) in reproductive age group in India. WWE have several unique gender-specific problems in the biological and social domains. Women experience more social stigma from epilepsy and have more difficulty with education and employment. They have more difficulty to get married and sustain successful family life. Reproductive hormones like estrogen and progesterone have opposing effect on seizure threshold. WWE have increased risk of infertility. About 10% of their babies may have major congenital malformations. Most of the adverse biological outcomes for WWE are related to adverse effects of antiepileptic drugs (AEDs). Traditional AEDs like phenobarbitone and sodium valproate are probably associated with increased risk of fetal malformations or other adverse fetal outcomes. Polytherapy and use of high dose of any AED is associated with higher risk fetal complications. It is very important that all WWE have a preconception evaluation done by a neurologist, when the need to continue AEDs or possibility of reducing AED load could be assessed. All WWE need to take folic acid 5 mg daily during preconception period and pregnancy. They should undergo a detailed screening for fetal malformations between 12 and 18 weeks of pregnancy. The neurologist, gynecologist, imageologist and pediatrician need to work as a team while managing pregnancy in WWE. It is important to reassure WWE and their relatives that pregnancy is safe in WWE and their children are healthy in more than 90% instances.

  3. Phenotype definition in epilepsy.

    Science.gov (United States)

    Winawer, Melodie R

    2006-05-01

    Phenotype definition consists of the use of epidemiologic, biological, molecular, or computational methods to systematically select features of a disorder that might result from distinct genetic influences. By carefully defining the target phenotype, or dividing the sample by phenotypic characteristics, we can hope to narrow the range of genes that influence risk for the trait in the study population, thereby increasing the likelihood of finding them. In this article, fundamental issues that arise in phenotyping in epilepsy and other disorders are reviewed, and factors complicating genotype-phenotype correlation are discussed. Methods of data collection, analysis, and interpretation are addressed, focusing on epidemiologic studies. With this foundation in place, the epilepsy subtypes and clinical features that appear to have a genetic basis are described, and the epidemiologic studies that have provided evidence for the heritability of these phenotypic characteristics, supporting their use in future genetic investigations, are reviewed. Finally, several molecular approaches to phenotype definition are discussed, in which the molecular defect, rather than the clinical phenotype, is used as a starting point.

  4. Managing epilepsy in pregnancy

    Directory of Open Access Journals (Sweden)

    Sanjeev V Thomas

    2011-01-01

    Full Text Available There are close to one and half million women with epilepsy (WWE in reproductive age group in India. WWE have several unique gender-specific problems in the biological and social domains. Women experience more social stigma from epilepsy and have more difficulty with education and employment. They have more difficulty to get married and sustain successful family life. Reproductive hormones like estrogen and progesterone have opposing effect on seizure threshold. WWE have increased risk of infertility. About 10% of their babies may have major congenital malformations. Most of the adverse biological outcomes for WWE are related to adverse effects of antiepileptic drugs (AEDs. Traditional AEDs like phenobarbitone and sodium valproate are probably associated with increased risk of fetal malformations or other adverse fetal outcomes. Polytherapy and use of high dose of any AED is associated with higher risk fetal complications. It is very important that all WWE have a preconception evaluation done by a neurologist, when the need to continue AEDs or possibility of reducing AED load could be assessed. All WWE need to take folic acid 5 mg daily during preconception period and pregnancy. They should undergo a detailed screening for fetal malformations between 12 and 18 weeks of pregnancy. The neurologist, gynecologist, imageologist and pediatrician need to work as a team while managing pregnancy in WWE. It is important to reassure WWE and their relatives that pregnancy is safe in WWE and their children are healthy in more than 90% instances.

  5. Epilepsy in Dostoevsky's novels.

    Science.gov (United States)

    Voskuil, Piet H A

    2013-01-01

    Fyodor Mikhailovich Dostoevsky (1821-1881) suffered from epilepsy. Some type of psychopathology can be found in about 25% of the characters of his novels. Some of them have seizures. In at least five of them Dostoevsky clearly intends them to have epilepsy. Others are more likely to be created as people with hysteria or sometimes, for instance, possession. In this essay an inventory is given by more or less comprehensive quotes of different types of seizures in five novels. The seizures are named in the novels with a varying vocabulary based on the concepts of nosology in the 19th century, the knowledge of Dostoevsky of these concepts, his own experiences, and problems in translation and transliteration. In the discussion, analysis of the role these factors played in the understanding of what Dostoevsky really expressed is given attention. Special attention is given to the so-called ecstatic aura. This element of focal epileptic seizures is so rare that in the past the description of it raised doubts on its existence as such and therefore the embellishment by Dostoevsky, describing his own experience and/or that of his epileptic characters Kirillov and Myshkin. The consequence of this analytic approach, however, should not be losing one's amazement of the genius polyphonic creativity of Dostoevsky to integrate so many profound aspects of the human and especially the Russian soul in the characters of his novels.

  6. SPECT in Focal Epilepsies

    Directory of Open Access Journals (Sweden)

    Roderick Duncan

    2000-01-01

    Full Text Available Brain perfusion changes during seizures were first observed in the 1930s. Single Photon Emission Computed Tomography (SPECT was developed in the 1970s, and tracers suitable for the imaging of regional cerebral perfusion (rCP became available in the 1980s. The method was first used to study rCP in the interictal phase, and this showed areas of low perfusion in a proportion of cases, mainly in patients with temporal lobe epilepsies. However, the trapping paradigm of tracers such as hexamethyl propyleneamine oxime (HMPAO provided a practicable method of studying changes in rCP during seizures, and a literature was established in the late 1980s and early 1990s showing a typical sequence of changes during and after seizures of mesial temporal lobe origin; the ictal phase was associated with large increases in perfusion throughout the temporal lobe, with first the lateral, then the mesial temporal lobe becoming hypoperfused in the postictal phase. Activation and inhibition of other structures, such as the basal ganglia and frontal cortex, were also seen. Studies of seizures originating elsewhere in the brain have shown a variety of patterns of change, according to the structures involved. These changes have been used practically to aid the process of localisation of the epileptogenic zone so that epilepsy surgery can be planned.

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

    Science.gov (United States)

    Jóźwiak, Sergiusz

    2007-01-01

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

  8. 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.

  9. [Images of epilepsy in Shakespeare].

    Science.gov (United States)

    Breuer, Horst

    2002-01-01

    Epilepsy and the "falling sickness" are mentioned three times in Shakespeare, in Julius Caesar, I.ii, Othello, IV.i., and figuratively in King Lear, II.ii. The present article surveys these passages in the context of modern research findings, literary as well as medico-historical. It adds further material from Renaissance texts and concludes that epilepsy is an omnibus term for a variety of symptoms and pathological conditions, and that Shakespeare's idea of epilepsy is closer to popular stereotypes than has hitherto been assumed.

  10. Anti-epileptogenesis: Electrophysiology, diffusion tensor imaging and behavior in a genetic absence model

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Mishra, A.M.; Edelbroek, P.M.; Coman, D.; Frankenmolen, N.L.; Schaapsmeerders, P.; Covolato, G.; Danielson, N.; Niermann, H.C.M.; Janeczko, K.; Kiemeneij, A.; Burinov, J.; Bashyal, C.; Coquillette, M.; Luttjohann, A.K.; Hyder, F.; Blumenfeld, H.; Rijn, C.M. van

    2013-01-01

    The beneficial effects of chronic and early pharmacological treatment with ethosuximide on epileptogenesis were studied in a genetic absence epilepsy model comorbid for depression. It was also investigated whether there is a critical treatment period and treatment length. Cortical excitability in th

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

    Science.gov (United States)

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

    2016-04-01

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

  12. Refractory epilepsy and the ketogenic diet: pathophysiological aspects and possible implications in dental practice.

    Science.gov (United States)

    Sharma, A; Mathur, V P

    2011-01-01

    Epilepsy denotes any disorder characterized by recurrent seizures due to abnormal paroxysmal neuronal discharge in the brain. Symptoms range from sensory absences to convulsive movements and loss of consciousness. Antiepileptic drugs are the first line of treatment. However, 20% individuals with epilepsy have drug-resistant seizures despite optimal treatment. For those with refractory epilepsy, the ketogenic diet is an effective alternative therapeutic approach. The ketogenic diet is a high-fat, low-carbohydrate, and adequate-protein diet that mimics the biochemical effects of fasting. There are many disparate mechanistic theories of how this diet protects against seizures. Key insights indicate that it has effects on intermediary metabolism that influence the dynamics of the major inhibitory and excitatory neurotransmitter systems in brain. This paper discusses the implicitly significant and diverse biochemical changes affected by this unique therapeutic approach that may have a bearing on oral health and the delivery of dental care to individuals with refractory epilepsy.

  13. Effects of glutathione S-transferase M1 and T1 deletions on epilepsy risk among a Tunisian population.

    Science.gov (United States)

    Chbili, Chahra; B'chir, Fatma; Ben Fredj, Maha; Saguem, Bochra-Nourhène; Ben Amor, Sana; Ben Ammou, Sofiene; Saguem, Saad

    2014-09-01

    Glutathione-S-transferases enzymes are involved in the detoxification of several endogenous and exogenous substances. In this present study, we evaluated the effects of two glutathione-S-transferase polymorphisms, (GSTM1 and GSTT1) on epilepsy risk susceptibility in a Tunisian population. These polymorphisms were analyzed in 229 healthy subjects and 98 patients with epilepsy, using a polymerase chain reaction (PCR). Odds ratio (ORs) was used for analyzing results. The study results demonstrated that individuals with the GSTM1 null genotype were at an increased risk of developing epilepsy [OR=3.80, 95% confidence interval (CI) (2.15-4.78)], whereas no significant effects were observed between individuals with GSTT1 null genotype and epilepsy risk [OR=1.15, 95% CI (0.62-2.12)]. These genotyping finding revealed that the absence of GSTM1 activity could be contributor factor for the development of epilepsy disease.

  14. OPIC: Ontology-driven Patient Information Capturing system for epilepsy.

    Science.gov (United States)

    Sahoo, Satya S; Zhao, Meng; Luo, Lingyun; Bozorgi, Alireza; Gupta, Deepak; Lhatoo, Samden D; Zhang, Guo-Qiang

    2012-01-01

    The widespread use of paper or document-based forms for capturing patient information in various clinical settings, for example in epilepsy centers, is a critical barrier for large-scale, multi-center research studies that require interoperable, consistent, and error-free data collection. This challenge can be addressed by a web-accessible and flexible patient data capture system that is supported by a common terminological system to facilitate data re-usability, sharing, and integration. We present OPIC, an Ontology-driven Patient Information Capture (OPIC) system that uses a domain-specific epilepsy and seizure ontology (EpSO) to (1) support structured entry of multi-modal epilepsy data, (2) proactively ensure quality of data through use of ontology terms in drop-down menus, and (3) identify and index clinically relevant ontology terms in free-text fields to improve accuracy of subsequent analytical queries (e.g. cohort identification). EpSO, modeled using the Web Ontology Language (OWL), conforms to the recommendations of the International League Against Epilepsy (ILAE) classification and terminological commission. OPIC has been developed using agile software engineering methodology for rapid development cycles in close collaboration with domain expert and end users. We report the result from the initial deployment of OPIC at the University Hospitals Case Medical Center (UH CMC) epilepsy monitoring unit (EMU) as part of the NIH-funded project on Sudden Unexpected Death in Epilepsy (SUDEP). Preliminary user evaluation shows that OPIC has achieved its design objectives to be an intuitive patient information capturing system that also reduces the potential for data entry errors and variability in use of epilepsy terms.

  15. Epilepsias parciais familiares Familial partial epilepsies

    Directory of Open Access Journals (Sweden)

    ELIANE KOBAYASHI

    2000-09-01

    ência familiar é comum nas epilepsias parciais, tanto em adultos como em crianças. A maior parte dos casos estudados foi de pacientes com ELT e a expressão clínica não foi diferente da observada em casos esporádicos, predominando pacientes com bom controle de crises, apesar do caráter heterogêneo. A identificação dos genes envolvidos nos casos estudados poderá ser útil na classificação das síndromes epilépticas, na determinação do prognóstico e regime terapêutico mais indicado.OBJECTIVE: To investigate the clinical and genetic characteristics of familial partial epilepsies. METHOD: Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed. RESULTS: Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE was identified in 22 families (68%, frontal lobe epilepsy in one family (3%, partial epilepsy with centrotemporal spikes in five families (15%, and other benign partial epilepsies of childhood in four families (12%. Most of the affected individuals in the TLE families (69% had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without

  16. Patterns of depressive symptoms in epilepsy

    Directory of Open Access Journals (Sweden)

    Nikolaos I. Triantafyllou

    2013-04-01

    Full Text Available Objective: The purpose of this study was to determine the nature and extent of depressive symptoms among patients with epilepsy.Methods: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.Results: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.Conclusions: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.

  17. Past absence as a predictor of present absence

    DEFF Research Database (Denmark)

    Løkke Møller, Ann-Kristina Løkke

    2014-01-01

    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...... such as wage and contracted number of work hours also influence absence duration. Finally, the season of the year seems to influence absence duration....

  18. 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 b

  19. Discordant Epilepsy in Monozygous Twins

    OpenAIRE

    2001-01-01

    Twelve monozygotic twins, discordant for epilepsy, were analysed for nonhereditary etiological factors by clinical history, MRI, and quantitative brain volume studies at the Brain Research Institute, University of Melbourne, Victoria, Australia.

  20. Adolescents' lived experience of epilepsy.

    Science.gov (United States)

    Eklund, Pernilla Garmy; Sivberg, Bengt

    2003-02-01

    To improve the well-being of adolescents with epilepsy, research is needed on how adolescents cope. In this study, Lazarus' model of stress and coping and Antonovsky's Theory of Sense of Coherence were used as the theoretical framework. The aim was to describe the lived experience of adolescents with epilepsy and their coping skills. The participants were 13-19 years old with an epilepsy diagnosis but without mental retardation or cerebral palsy. The study was performed in southern Sweden at the pediatric department of a university hospital. Semistructured and open-ended interviews were conducted with 13 adolescents. The transcripts were analyzed with manifest and latent content analysis. All the adolescents had developed strategies to cope with the emotional strains caused by epilepsy. They experienced strains from the seizures, limitation of leisure activities, side effects of medication, and feelings of being different. The coping strategies described were finding support, being in control, and experimenting.

  1. [Modern aspects of epilepsy treatment].

    Science.gov (United States)

    Alajbegović, Azra; Kantardzić, Dzelaludin; Suljić, Enra; Alajbegović, Salem

    2003-01-01

    It is a general rule today, after a relevant diagnostics of an epilepsy, to start a monotherapy treatment, depending on a kind of a seizure, a life age and a general health condition. First line of monotherapy epilepsy drugs remain carbamazapine and sodium valproat. New drugs that are being introduced are: felbamat, gabapentin, lamotrigin, oxcarbazepin, tiagabin, topiramat, vigabatin and zanisamid. These are commonly used as add-on therapy, or as an addition for previously used antiepileptic. Their indicated areas are complex resistant partial seizures with or without generalization. Attention should be paid on proper dosage, interactions and toxicity. Regardless on the new epileptic era, according to reports of International League against epilepsy, most of the patients do not receive the drug that is the most appropriate for them concerning the price (cost-benefit). Neurosurgical methods in epilepsy treatment are: selective amygdalo-hyppocampotomy, temporal lobotomy, subpial resection, hemispherectomy, corpus callosotomy, removal of lesions like tumors or cysts provide encouraging results in reduction of epileptic seizures that can be followed by reduction of drug therapy. N. vagus stimulation is being wider introduced in resident epileptics. Treatment of epilepsy in women requires an approach to sexuality, conception, pregnancy, introduction of medicaments, antiepileptic terratogenity, contraception, motherhood and menopause. A special significance of modern approach to epilepsy is in treatment of elderly who have cerebrovascular and neurodegenerative disease as a cause of seizures. A complex treatment of epilepsy using pharmacological and neurosurgical approach requires supportive psychotherapy, socio-therapy, the work with a family, education about epilepsy and living a life with more quality having one.

  2. Epilepsy, physical activity and sports

    OpenAIRE

    Carrizosa-Moog, Jaime

    2017-01-01

    People with epilepsy are prone to be sedentary compared with the general population. The causes of inactivity are ignorance, prejudice, overprotection, fear and shame. There is no scientific evidence supporting a limitation of physical exercise in persons with epilepsy. The benefits of exercise in these patients are huge. Positive aspects are: physical conditioning, prevention of seizures, emotional wellbeing, social interaction, drug treatment adherence, osteoporosis prevention and better qu...

  3. [The systematization of epilepsy remissions].

    Science.gov (United States)

    Gromov, S A; Fedotenkova, T N

    1995-01-01

    Problems of systematization of remissions of epileptic seizures and epilepsy are discussed on the basis of clinical examination of 341 epileptic patients with seizures suppressed for many years and international classifications of epilepsy. A classification, developed by the authors, is presented. It reflects stages of regress of the disease in achievement of prolonged (for years) control of seizures. The possibility of drug dependence development in these therapeutic remissions is also taken into consideration.

  4. Fever, febrile seizures and epilepsy

    OpenAIRE

    2007-01-01

    Seizures induced by fever (febrile seizures) are the most common type of pathological brain activity in infants and children. These febrile seizures and their potential contribution to the mechanisms of limbic (temporal lobe) epilepsy have been a topic of major clinical and scientific interest. Key questions include the mechanisms by which fever generates seizures, the effects of long febrile seizures on neuronal function and the potential contribution of these seizures to epilepsy. This revi...

  5. Women'S issues and epilepsy.

    Science.gov (United States)

    Noe, Katherine H; Pack, Alison M

    2010-06-01

    Women with epilepsy (WWE) may experience changes in seizure control related to alterations in neuronal excitability mediated by estrogen and progesterone. A third or more of women will reliably note seizures that are linked to menstruation or ovulation. Reproductive hormone-related exacerbation of seizure control is also observed during perimenopause. Seizures and antiepileptic drugs (AEDs) also can adversely affect reproductive health. WWE have higher than expected rates of menstrual disorders and infertility. Enzyme-inducing AEDs interact with hormonal contraceptives, potentially limiting options for birth control. Exposure to AEDs during pregnancy increases the risk of congenital malformations and cognitive impairments in children born to WWE. Chronic AED use increases the risk of vitamin D deficiency, decreased bone quality and density, and fractures. These concerns heighten the need to taper AEDs when appropriate and to manage WWE on the simplest AED regimen that will maintain seizure freedom.

  6. Steroids in childhood epilepsy

    Directory of Open Access Journals (Sweden)

    Ramachandrannair Rajesh

    2006-01-01

    Full Text Available Treatment of epileptic encephalopathies can be very challenging as most anticonvulsant drugs fail to achieve good seizure control. Steroids are disease modifying as well as anticonvulsant in these conditions. Though steroids are accepted as the first-line treatment for infantile spasms, there are many unanswered questions with regard to the preparation, dose and duration of treatment. In this review a re-exploration of the literature is attempted. Putative mechanism of action of steroids in infantile spasms is also discussed. As steroids are being increasingly used in other epileptic encephalopathies and Rasmussen′s encephalitis, a brief discussion on the role of steroids in these conditions is attempted. The review ends with the discussion on newer neuroactive steroids in the management of epilepsy.

  7. Epilepsie und Schwangerschaft

    Directory of Open Access Journals (Sweden)

    Luef G

    2009-01-01

    Full Text Available Epilepsien sind eine der häufigsten neurologischen Erkrankungen und umfassen eine Vielzahl von heterogenen Erkrankungen, welche epileptische Anfälle als gemeinsames Symptom besitzen. Schwangerschaften epilepsiekranker Frauen beschäftigen Neurologen und Gynäkologen gleich häufig, da sowohl epileptische Anfälle mit tonisch-klonischen Krämpfen, als auch deren medikamentöse Therapie teratogen sein können. Über 90 % der Schwangerschaften epilepsiekranker Frauen verlaufen weitgehend problemlos. Auch die Anfallsfrequenz ist nur bei sehr wenigen Patientinnen gesteigert. Trotzdem ist es wichtig, dass im speziellen Fall schwangerer Epilepsiepatientinnen verschiedene Fachkräfte zusammenarbeiten. Eine Epilepsie stellt also in der Regel keinen Grund dar, auf Kinder zu verzichten.

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

    Science.gov (United States)

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

    2017-03-01

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

  9. Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

    Science.gov (United States)

    Allen, Nicholas M; Conroy, Judith; Deonna, Thierry; McCreary, Dara; McGettigan, Paul; Madigan, Cathy; Carter, Imogen; Ennis, Sean; Lynch, Sally A; Shahwan, Amre; King, Mary D

    2016-01-01

    Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy. Furthermore, the molecular inheritance pattern for ABPE and the wider spectrum of epilepsy aphasia disorders have yet to be fully elucidated. We describe the phenotype-genotype study of a boy with ABPE with follow-up from ages 5 to 13 years showing acquired oromotor and, later, a specific lexical semantic and pervasive developmental disorder. Exome sequencing identified variants in SCN9A, CPA6, and SCNM1. A direct role of the epilepsy in the pathogenesis of the oromotor and neurocognitive deficits is apparent.

  10. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.

    Science.gov (United States)

    Scheffer, I E; Jones, L; Pozzebon, M; Howell, R A; Saling, M M; Berkovic, S F

    1995-10-01

    We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain.

  11. Telemedicine for Epilepsy Support in Resource-poor Settings

    Directory of Open Access Journals (Sweden)

    Victor ePatterson

    2014-08-01

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

  12. Risk factors for fatigue in patients with epilepsy.

    Science.gov (United States)

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

    2016-11-01

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

  13. Depression and Anxiety in Iranian Mothers of Children with Epilepsy

    Directory of Open Access Journals (Sweden)

    Atefeh SOLTANIFAR

    2012-03-01

    Full Text Available How to Cite this Article: Soltanifar A, Ashrafzadeh F, Mohareri F, Mokhber N. Depression and Anxiety in Iranian Mothers ofChildren with Epilepsy. Iranian Journal of Child Neurology 2012;6(1:29-34. ObjectiveEpilepsy is a common neurological disorder in children. Parents with epileptic children have many psychosocial care needs. So the main goal of this study was to evaluate depression and anxiety in Iranian mothers with epileptic children.Materials & MethodsWe identified 30 mothers of children with epilepsy and 30 mothers of children without epilepsy with children aged between 8 and 12 years who met the study criteria. In all children with epilepsy, the mothers were the main caregivers and all these children lived in two-parent families. Children in the control group were in the same age. Ninety-eight percent of children in the control group lived in two-parent families with the mother as the main caregiver. All mothers fulfilled the Beck Depression Inventory (BDI and Spielberger State-Trait Anxiety Inventory.ResultsAccording to these data, BDI scores were significantly higher in the mothers of epileptic children (mean of Beck score=16.5 compared to the control group (mean of Beck score=9.8. The total, Spielberger State-Trait Anxiety Inventory scores for mothers of children with epilepsy were 100.3, 51.7 and 48.6. However, these scores in the control group were 86.9, 45.1 and 41.8. These differences were statistically significant.In a second analysis, using the demographic data, we did not find any statistically significant relation between anxiety or depression and the mothers’ job, children’s medication and other demographic variables.ConclusionNeurologists and psychiatrists need to develop better programs for adequate management of psychiatric disorders in mothers with epileptic children. References 1. Cowan LD. The epidemiology of the epilepsies inchildren. Ment Retard Dev Disabil Res Rev 2002;8:171-81.2. Schiariti V, Farrell K, Hoube

  14. NEW ASPECTS OF THE PATHOGENESIS OF EPILEPSY

    Directory of Open Access Journals (Sweden)

    Rano Bahodirovna Azizova

    2014-11-01

    Full Text Available We studied 52 patients with epilepsy with the average age of 36.2±14.7 years old. Of them, 38 patients had idiopathic epilepsy, 14 patients had symptomatic epilepsy. Our study has shown that epilepsy is accompanied with increased levels of autoantibodies to NF-200, GFAP, S100, MBP, DNA, GABA and dopamine receptors, testifying to the important role of autoimmune disturbances in the pathogenesis of epilepsy. More severe attacks are accompanied by worsening of neuroimmune dysregulation. The degree and duration of autoimmune process can serve additional diagnostic and prognostic criteria for epilepsies.

  15. Depression and Anxiety in Iranian Mothers of Children with Epilepsy

    OpenAIRE

    2012-01-01

    How to Cite this Article: Soltanifar A, Ashrafzadeh F, Mohareri F, Mokhber N. Depression and Anxiety in Iranian Mothers ofChildren with Epilepsy. Iranian Journal of Child Neurology 2012;6(1):29-34. ObjectiveEpilepsy is a common neurological disorder in children. Parents with epileptic children have many psychosocial care needs. So the main goal of this study was to evaluate depression and anxiety in Iranian mothers with epileptic children.Materials & MethodsWe identified 30 mothers of chi...

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

    Science.gov (United States)

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

    2015-03-20

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

  17. Magnetoencephalography in the presurgical evaluation of epilepsy.

    Science.gov (United States)

    Kharkar, Siddharth; Knowlton, Robert

    2015-05-01

    Magnetoencephalography (MEG) is an important tool in the presurgical evaluation of patients with medically refractory epilepsy. The appropriate utilization and interpretation of MEG studies can increase the proportion of patients who may be able to further pursue surgical evaluation, refine surgical planning, and potentially increase the probability of seizure freedom after surgery. The aim of this paper is to provide the reader with a comprehensive but accessible guide to MEG, with particular emphasis on acquiring a working knowledge of MEG analysis, identifying patient groups that are most likely to benefit, and clarifying the limitations of this technology.

  18. Prenatal exposure to antidepressants and risk of epilepsy in childhood

    DEFF Research Database (Denmark)

    Mao, Yanyan; Pedersen, Lars Henning; Christensen, Jakob;

    2016-01-01

    PURPOSE: This study aimed to estimate the association between prenatal exposure to antidepressants and risk of epilepsy in childhood, taking maternal depression into account. METHODS: We conducted a population-based cohort study including all Danish singletons born alive between 1997 and 2008 (n...... = 734 237). Information on antidepressant medication and diagnosis of depression and epilepsy was obtained from Danish National Registers. The exposed group comprised children of mothers who used antidepressants from 30 days before pregnancy until the date of birth. The reference group comprised...... children of mothers who used no antidepressants from 6 months before pregnancy to birth. We estimated the hazard ratios (HR) of epilepsy and 95% confidence intervals (CI) using Cox proportional hazard models. RESULTS: We identified 12 438 (1.7%) children exposed to antidepressants during pregnancy...

  19. Intestinal Microbiota as an Alternative Therapeutic Target for Epilepsy

    Directory of Open Access Journals (Sweden)

    Jiaying Wu

    2016-01-01

    Full Text Available Epilepsy is one of the most widespread serious neurological disorders, and an aetiological explanation has not been fully identified. In recent decades, a growing body of evidence has highlighted the influential role of autoimmune mechanisms in the progression of epilepsy. The hygiene hypothesis draws people’s attention to the association between gut microbes and the onset of multiple immune disorders. It is also believed that, in addition to influencing digestive system function, symbiotic microbiota can bidirectionally and reversibly impact the programming of extraintestinal pathogenic immune responses during autoimmunity. Herein, we investigate the concept that the diversity of parasitifer sensitivity to commensal microbes and the specific constitution of the intestinal microbiota might impact host susceptibility to epilepsy through promotion of Th17 cell populations in the central nervous system (CNS.

  20. Clinical risk factors associated with anti-epileptic drug responsiveness in canine epilepsy.

    Directory of Open Access Journals (Sweden)

    Rowena M A Packer

    Full Text Available The nature and occurrence of remission, and conversely, pharmacoresistance following epilepsy treatment is still not fully understood in human or veterinary medicine. As such, predicting which patients will have good or poor treatment outcomes is imprecise, impeding patient management. In the present study, we use a naturally occurring animal model of pharmacoresistant epilepsy to investigate clinical risk factors associated with treatment outcome. Dogs with idiopathic epilepsy, for which no underlying cause was identified, were treated at a canine epilepsy clinic and monitored following discharge from a small animal referral hospital. Clinical data was gained via standardised owner questionnaires and longitudinal follow up data was gained via telephone interview with the dogs' owners. At follow up, 14% of treated dogs were in seizure-free remission. Dogs that did not achieve remission were more likely to be male, and to have previously experienced cluster seizures. Seizure frequency or the total number of seizures prior to treatment were not significant predictors of pharmacoresistance, demonstrating that seizure density, that is, the temporal pattern of seizure activity, is a more influential predictor of pharmacoresistance. These results are in line with clinical studies of human epilepsy, and experimental rodent models of epilepsy, that patients experiencing episodes of high seizure density (cluster seizures, not just a high seizure frequency pre-treatment, are at an increased risk of drug-refractoriness. These data provide further evidence that the dog could be a useful naturally occurring epilepsy model in the study of pharmacoresistant epilepsy.

  1. Epilepsy in Individuals with a History of Asperger's Syndrome

    DEFF Research Database (Denmark)

    Rich, Bente; Isager, Torben; Mouridsen, Svend Erik Birkebæk

    2013-01-01

    We performed a nationwide, register-based retrospective follow-up study of epilepsy in all people who were born between January 1, 1980 and June 29, 2006 and registered in the Danish Psychiatric Central Register with Asperger's syndrome on February 7, 2011. All 4,180 identified cases with AS (3...

  2. The Ketogenic Diet Improves Recently Worsened Focal Epilepsy

    Science.gov (United States)

    Villeneuve, Nathalie; Pinton, Florence; Bahi-Buisson, Nadia; Dulac, Olivier; Chiron, Catherine; Nabbout, Rima

    2009-01-01

    Aim: We observed a dramatic response to the ketogenic diet in several patients with highly refractory epilepsy whose seizure frequency had recently worsened. This study aimed to identify whether this characteristic was a useful indication for the ketogenic diet. Method: From the 70 patients who received the ketogenic diet during a 3-year period at…

  3. Investigation of GRIN2A in common epilepsy phenotypes

    NARCIS (Netherlands)

    Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian; Sander, Thomas; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Krause, Roland; Lehesjoki, Anna Elina; Nürnberg, Peter; Palotie, Aarno; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Becker, Albert J.; Schoch, Susanne; Hansen, Jörg; Dorn, Thomas; Hohl, Christin; Lüscher, Nicole; von Spiczak, Sarah; Lemke, Johannes R.; Zimprich, Fritz; Feucht, Martha; Suls, Arvid; Weckhuysen, Sarah; Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Dyck, Tine Van; Deconinck, Tine; De Jonghe, Peter; Møller, Rikke S.; Klitten, Laura L.; Hjalgrim, Helle; Campus, Kiel; Ostertag, Philipp; Trucks, Hol ger; Elger, Christian E.; Kleefuß-Lie, Ailing A.; Kunz, Wolfram S.; Surges, Rainer; Gaus, Verena; Janz, Dieter; Schmitz, Bettina; Klein, Karl Martin; Reif, Philipp S.; Oertel, Wolfgang H.; Hamer, Hajo M.; Rosenow, Felix; Kapser, Claudia; Schankin, Christoph J.; Koeleman, Bobby P C; de Kovel, Carolien; Lindhout, Dick; Reinthaler, Eva M.; Steinboeck, Hannelore; Neo-phytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M.; Altmueller, Janine; Nuernberg, Peter; Neubauer, Bernd; Sirén, Auli

    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 mutatio

  4. 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 muta...

  5. Effect of learning disabilities on academic self-concept in children with epilepsy and on their quality of life.

    Science.gov (United States)

    Brabcová, Dana; Zárubová, Jana; Kohout, Jiří; Jošt, Jiří; Kršek, Pavel

    2015-01-01

    Academic self-concept could significantly affect academic achievement and self-confidence in children with epilepsy. However, limited attention has been devoted to determining factors influencing academic self-concept of children with epilepsy. We aimed to analyze potentially significant variables (gender, frequency of seizures, duration of epilepsy, intellectual disability, learning disability and attention deficit hyperactivity disorder) in relation to academic self-concept in children with epilepsy and to additional domains of their quality of life. The study group consisted of 182 children and adolescents aged 9-14 years who completed the SPAS (Student's Perception of Ability Scale) questionnaire determining their academic self-concept and the modified Czech version of the CHEQOL-25 (Health-Related Quality of Life Measure for Children with Epilepsy) questionnaire evaluating their health-related quality of life. Using regression analysis, we identified learning disability as a key predictor for academic-self concept of children with epilepsy. While children with epilepsy and with no learning disability exhibited results comparable to children without epilepsy, participants with epilepsy and some learning disability scored significantly lower in almost all domains of academic self-concept. We moreover found that children with epilepsy and learning disability have significantly lower quality of life in intrapersonal and interpersonal domains. In contrast to children with epilepsy and with no learning disability, these participants have practically no correlation between their quality of life and academic self-concept. Our findings suggest that considerable attention should be paid to children having both epilepsy and learning disability. It should comprise services of specialized counselors and teaching assistants with an appropriate knowledge of epilepsy and ability to empathize with these children as well as educational interventions focused on their teachers

  6. Profile of intractable epilepsy in a tertiary referral center.

    Directory of Open Access Journals (Sweden)

    Singhvi J

    2000-10-01

    Full Text Available This study was undertaken to find out the profile of intractable epilepsy (IE in a tertiary referral centre. 100 patients (males 67; females 33 with IE attending the epilepsy clinic were evaluated. Detailed history, examination, investigations like EEG and CT scan and details regarding pharmacotherapy were analysed. The age of the patients ranged from 5 to 70 yrs (mean=23.2 yrs. Mean duration of seizures was 11.44 years. Commonest seizure type was partial seizures (74%. Amongst patients with generalised seizures (26%, 14% had multiple seizure types. The seizure frequency was 12.39 +/- 21.57 (mean +/- SD per month. Fifty seven patients were in the symptomatic group with CNS infections being the leading cause (19% of epilepsy. Fifty patients had one or more abnormal predictors of IE. There was no difference in the severity of epilepsy in patients with no abnormal feature when compared with patients having abnormal features. EEG was abnormal in 69% cases with background abnormality in 20% and focal abnormality in 36% cases. CT scan was abnormal in 41% cases with commonest abnormality being neurocysticercosis (11% followed by gliosis (9% and chronic infarct (9%. Sixty patients were receiving a combination of two drugs, 32 patients 3 drugs and 8 patients were on 4 drugs. There was no difference in seizure control in patients who were on 2 drugs or more than 2 drugs. Partial seizures were the commonest seizure type leading to IE; CNS infection being the leading aetiological factor. The presence or absence of predictors of intractability does not predict severity of epilepsy. Addition of third primary drug to existing combination only increases adverse effects without better control of seizures.

  7. Epilepsy Surgery for Individuals with TSC

    Science.gov (United States)

    ... Privacy Policy Sitemap Learn Engage Donate About TSC Epilepsy Surgery for Individuals with TSC Epilepsy is a ... This is a cerebral angiogram, performed by a neuro-radiologist who injects a medication (sodium amobarbital) that ...

  8. Epilepsy - what to ask your doctor - adult

    Science.gov (United States)

    What to ask your doctor about epilepsy - adult; Seizures - what to ask your doctor - adult; Seizure - what to ask your doctor ... call to find more information about driving and epilepsy? What should I discuss with my boss at ...

  9. Vagus Nerve Stimulation for Treating Epilepsy

    Science.gov (United States)

    ... Evidence-based Guideline for PATIENTS and their FAMILIES VAGUS NERVE STIMULATION FOR TREATING EPILEPSY This information sheet is provided to help you understand how vagus nerve stimulation (VNS) may help treat epilepsy. The American ...

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

    Directory of Open Access Journals (Sweden)

    Jose Tellez-Zenteno

    2009-12-01

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

  11. Behavioral problems in children with epilepsy

    Directory of Open Access Journals (Sweden)

    Dora Novriska

    2014-11-01

    Full Text Available Background Epilepsy is a neurological disorder that most often affects children. Most cases of epilepsy are found in developing countries. Children with epilepsy are at risk of behavioral disorders that can affect their quality of life. Studies on behavioral problems in children with epilepsy have been limited in Indonesia. Objective To compare behavioral disorders in children with epilepsy to those in normal children, and to assess for possible factors associated with the occurrence of behavioral disorders. Methods We conducted a cross-sectional study involving 47 children with epilepsy and 46 children without epilepsy, aged 3-16 years. Behavioral problems were screened with the Strength and Difficulty Questionnaire (SDQ, Indonesian version. Information about EEG description, medication, onset, and duration of epilepsy were obtained from medical records. Results Behavioral problems were found in 19.1% of children with epilepsy and only in 2.2 % of children without epilepsy (PR 8.8; 95%CI 1.16 to 66.77; P= 0.015. Significant differences were also found in the percentage of conduct problems and emotional disorders. Multivariate analysis with logistic regression revealed that the factors associated with behavioral disorders in children with epilepsy were uncontrolled epilepsy (PR 13.9; 95%CI 1.45 to 132.4; P=0.023 and focal EEG appearance (PR 19; 95%CI 1.71 to 214.43; P=0.017. We also found that uncontrolled epilepsy was a factor related to emotional (PR 6.7; 95%CI 1.66 to 26.76; P=0.007 and conduct problems (PR 6.1; 95%CI 1.35 to 27.29; P=0.019. Conclusion Uncontrolled epilepsy and focal EEG results are factors associated with increased risk of behavioral problems in children with epilepsy. Children with epilepsy should undergo behavioral disorder screening, followed by diagnosis confirmation and treatment. [Paediatr Indones. 2014;54:324-9.].

  12. International veterinary epilepsy task force consensus proposal

    DEFF Research Database (Denmark)

    De Risio, Luisa; Bhatti, Sofie; Muñana, Karen

    2015-01-01

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

  13. The genetics of the epilepsies.

    Science.gov (United States)

    El Achkar, Christelle M; Olson, Heather E; Poduri, Annapurna; Pearl, Phillip L

    2015-07-01

    While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

  14. Epilepsy and the new cytogenetics.

    Science.gov (United States)

    Mulley, John C; Mefford, Heather C

    2011-03-01

    We set out to review the extent to which molecular karyotyping has overtaken conventional cytogenetics in applications related to epilepsy. Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, and oligonucleotide array comparative genome hybridization (array CGH) is now well established for genome-wide exploration of microchromosomal variation. Array CGH is applicable to the characterization of lesions present in both sporadic and familial epilepsy, especially where clinical features of affected cases depart from established syndromes. Copy number variants (CNVs) associated with epilepsy and a range of other syndromes and conditions can be recurrent due to nonallelic homologous recombination in regions of segmental duplication. The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of ∼ 1% at 15q13.3, 16p13.11, and 15q11.2, sites that also confer susceptibility for intellectual disability, autism, and schizophrenia. Incomplete penetrance and variable expressivity confound the established rules of cytogenetics for determining the pathogenicity for novel CNVs; however, as knowledge is gained for each of the recurrent CNVs, this is translated to genetic counseling. CNVs play a significant role in the susceptibility profile for epilepsies, with complex genetics and their comorbidities both from the "hotspots" defined by segmental duplication and elsewhere in the genome where their location and size are often novel.

  15. Theory of Mind in Patients with Epilepsy: a Systematic Review and Meta-analysis.

    Science.gov (United States)

    Stewart, Elizabeth; Catroppa, Cathy; Lah, Suncica

    2016-03-01

    The ability to understand our own thoughts, intentions, beliefs and emotions and those of others (Theory of Mind; ToM) is a high-order social cognitive skill that is vital for social interaction and which has been found to be impaired in patients with epilepsy. Studies examining ToM in patients with epilepsy, however, have yielded inconsistent findings. The main aim of this study is to determine whether the magnitude of ToM deficits varies as a function of the site of epilepsy focus and/or the type of ToM task used. Electronic databases searches included Psychinfo, Medline/PubMed and EMBASE. Studies were included if they examined a group of patients with epilepsy and a group of healthy controls, reported original research, were published in the English language in peer reviewed journals, and used one of five empirically validated measures of ToM: False Belief, Reading the Mind in the Eyes Task (RMET), Faux-pas, Strange Stories, Cartoon ToM vignettes. Twelve studies were identified, ten included adults and two included children with epilepsy. Findings revealed marked ToM deficits in adults with focal seizures emanating from core brain regions underpinning ToM: temporal and frontal lobes (frontal lobe epilepsy, FLE; temporal lobe epilepsy, TLE), but not in adults with focal seizures outside the temporal and frontal lobes (extra-TLE/FLE). ToM deficits were also observed in children with generalised seizures (idiopathic generalised epilepsy, IGE). ToM deficits were documented across ToM tasks. In conclusion, ToM deficits represent a robust finding in adults with frontal and temporal epilepsy, but are also found in children with generalised seizures. Further research into ToM is needed, especially in children with epilepsy as early ToM may have cumulative, negative effects on development of social skills that continues into adulthood.

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

    Science.gov (United States)

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

    2014-02-01

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

  17. Increased expression of Notch1 in temporal lobe epilepsy:animal models and clinical evidence

    Institute of Scientific and Technical Information of China (English)

    Xijin Liu; Zhiyong Yang; Yaping Yin; Xuejun Deng

    2014-01-01

    Temporal lobe epilepsy is associated with astrogliosis. Notch1 signaling can induce astrogliosis in glioma. However, it remains unknown whether Notch1 signaling is involved in the pathogenesis of epilepsy. This study investigated the presence of Notch1, hairy and enhancer of split-1, and glial fibrillary acidic protein in the temporal neocortex and hippocampus of lithium-pilocar-pine-treated rats. The presence of Notch1 and hairy and enhancer of split-1 was also explored in brain tissues of patients with intractable temporal lobe epilepsy. Quantitative electroencephalo-gram analysis and behavioral observations were used as auxiliary measures. Results revealed that the presence of Notch1, hairy and enhancer of split-1, and glial ifbrillary acidic protein were en-hanced in status epilepticus and vehicle-treated spontaneous recurrent seizures rats, but remain unchanged in the following groups:control, absence of either status epilepticus or spontaneous recurrent seizures, and zileuton-treated spontaneous recurrent seizures. Compared with patient control cases, the presences of Notch1 and hairy and enhancer of split-1 were upregulated in the temporal neocortex of patients with intractable temporal lobe epilepsy. Therefore, these results suggest that Notch1 signaling may play an important role in the onset of temporal lobe epilepsy via astrogliosis. Furthermore, zileuton may be a potential therapeutic strategy for temporal lobe epilepsy by blocking Notch1 signaling.

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

    Science.gov (United States)

    Shorvon, Simon

    2014-03-01

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

  19. Toxoplasma gondii and Epilepsy.

    Science.gov (United States)

    Ayaz, Erol; Türkoğlu, Şule Aydın; Orallar, Hayriye

    2016-06-01

    Toxoplasma gondii is a zoonotic parasite can be seen in all the vital organ; in the acute phase, it can be found in the blood, cerebrospinal fluid, semen, tears, saliva, urine, and in almost all body fluids. Transplasental infection can lead to fetal damage and miscarriage. Its last hosts are felines and intermediate hosts are all mammals, including humans. People infected by the ingestion of meat containing cysts in undercooked or raw, are thrown oocysts with cat felines By taking in water and food, from mother to fetus transplacental way, the infected organ transplantation, blood transfusion, laboratory accidents and kaprofaj transmitted by mechanical vectors of the invertebrates. Suppression of the immune system is being transformed to the shape and texture of the cysts with bradyzoite. The parasite settles in the cells of the tissue cysts and causes change in the cellular mechanisms, such as cytokinin task. Depending on changes and type of neurotransmitter (GABA, glutamate, serotonin, dopamine) levels in CSF in ions (Ca, K, Cl, Mg), it is believed that there is a change in their concentration. In this review, literature about the relationship between T. gondii and epilepsy and epileptiform activity the importance of parasites, which settle in the brain, will be highlighted.

  20. Caregiver Burden in Epilepsy: Determinants and Impact

    Directory of Open Access Journals (Sweden)

    Ioannis Karakis

    2014-01-01

    Full Text Available Aim. Caregiver burden (CB in epilepsy constitutes an understudied area. Here we attempt to identify the magnitude of this burden, the factors associated with it, and its impact to caregiver quality of life (QOL. Methods. 48 persons with epilepsy (PWE underwent video-EEG monitoring and their caregivers completed questionnaires providing demographic, disease-related, psychiatric, cognitive, sleep, QOL, and burden information. Results. On regression analysis, higher number of antiepileptic drugs, poorer patient neuropsychological performance, lower patient QOL score, and lower caregiver education level were associated with higher CB. Time allocated to patient care approximated but did not attain statistical significance. A moderate inverse correlation between CB and caregiver QOL physical component summary score and a stronger inverse correlation between CB and caregiver QOL mental component summary score were seen. Conclusion. In a selected cohort of PWE undergoing video-EEG monitoring, we identified modest degree of CB, comparable to that reported in the literature for other chronic neurological conditions. It is associated with specific patient and caregiver characteristics and has a negative effect on caregiver QOL.

  1. Brain stimulation for treatment of refractory epilepsy

    Institute of Scientific and Technical Information of China (English)

    GE Yan; HU Wei; LIU Chong; ZHANG Jian-guo; MENG Fan-gang

    2013-01-01

    Objective We review the targets of the deep brain and the responsive neurostimulation system (RNS) to identify the best optimal stimulation parameters and the best mode of stimulation,whether cyclical,continuous,or smarter.Data sources This review is based on data obtained from published articles from 1950 to 2013.To perform the PubMed literature search,the following keywords were input:deep brain stimulation (DBS),RNS,and refractory epilepsy.Study selection Articles containing information related to brain stimulation or RNS for the treatment of refractory epilepsy were selected.Results The currently available treatment options for those patients who resist multiple antiepileptic medications and surgical procedures include electric stimulation,both direct and indirect,of brain nuclei thought to be involved in epileptogenesis.The number of potential targets has increased over the years to include the anterior nucleus of the thalamus,the centromedian nucleus of the thalamus,the hippocampus,the subthalamic nucleus,the caudate nucleus,and the cerebellum,among others.The results of a randomized controlled trial and the RNS trial were published to reveal the effectiveness.Conclusions Although statistically significant reductions in seizures have been observed using several different stimulation techniques,including vagus nerve stimulation,DBS,and RNS,these effects are currently only palliative and do not approach the efficacy comparable with that seen in resection in appropriately selected patients.More research is needed to determine optimal stimulation targets and techniques as well as to determine which epilepsy patients will benefit most from this technology.

  2. [Possibilities of psychoprophylaxis in epilepsy].

    Science.gov (United States)

    Bilikiewicz, A

    1976-01-01

    The psychiatrist should be given also their share in the prevetion of epilepsy by means of raising the psychiatric culture of the society and teaching the population the principles of mental hygiene and psychoprophylaxia. The possibilities of psychiatry in prophylactic management of patients with developed epilepsy include: 1. Energetic measures for controlling attacks which has many psychoprophylactic aspects. 2. Prevention of psychotraumatizing situations leading to secondary neurotic, psychotic and other reactions and behaviour disorders of the type of homilopathy and sociopathy, 3. Counteracting the development of mental and social disability in epileptics. Treatment of epilepsy should be conducted from its very beginning in cooperation with psychiatrists and therapeutic psychologists. The probems of prophylaxis cannot be separated from prophylactic treatment, psychotherapy sociotherapy and rehabilitation.

  3. Epilepsy, physical activity and sports

    Directory of Open Access Journals (Sweden)

    Carrizosa-Moog, Jaime

    2017-01-01

    Full Text Available People with epilepsy are prone to be sedentary compared with the general population. The causes of inactivity are ignorance, prejudice, overprotection, fear and shame. There is no scientific evidence supporting a limitation of physical exercise in persons with epilepsy. The benefits of exercise in these patients are huge. Positive aspects are: physical conditioning, prevention of seizures, emotional wellbeing, social interaction, drug treatment adherence, osteoporosis prevention and better quality of life for patients and their families. Having in mind the individual characteristics, physical exercise should be prescribed and guided. Available evidence underlies the complementary therapeutic effects of physical activity with large positive results at a low cost. Sports or regular physical activity should be a standard indication for persons with epilepsy.

  4. Epilepsy and metaphors in literature.

    Science.gov (United States)

    Wolf, Peter

    2016-04-01

    This topic has two different aspects: seizures and epilepsy used as metaphors and seizures described in metaphors. Whereas some metaphors are unique and have high literary value, others can be categorized in prototypical groups. These include sexual metaphors; metaphors of strong emotions, of life crises and breakdown, and also of exultation; religious metaphors; and metaphors of weakness which mostly belong to older literature. Writers with epilepsy, in their literary texts, rarely talk about seizures in metaphors. Authors who do this sometimes seem to use reports that they have received from afflicted persons. The most common metaphors for seizures belong to the realms of dreams and of strong sensory impressions (visual, auditory). More rarely, storm and whirlwind are used as literary metaphors for seizures. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity".

  5. Epilepsy and music: practical notes.

    Science.gov (United States)

    Maguire, M

    2017-04-01

    Music processing occurs via a complex network of activity far beyond the auditory cortices. This network may become sensitised to music or may be recruited as part of a temporal lobe seizure, manifesting as either musicogenic epilepsy or ictal musical phenomena. The idea that sound waves may directly affect brain waves has led researchers to explore music as therapy for epilepsy. There is limited and low quality evidence of an antiepileptic effect with the Mozart Sonata K.448. We do not have a pathophysiological explanation for the apparent dichotomous effect of music on seizures. However, clinicians should consider musicality when treating patients with antiepileptic medication or preparing patients for epilepsy surgery. Carbamazepine and oxcarbazepine each may cause a reversible altered appreciation of pitch. Surgical cohort studies suggest that musical memory and perception may be affected, particularly following right temporal lobe surgery, and discussion of this risk should form part of presurgical counselling.

  6. Opportunities for epilepsy: Outcomes of the Milken Institute State of the Science Retreat.

    Science.gov (United States)

    Dumanis, Sonya B; Riley, Ekemini A U; Briggs, LaTese; Kim, YooRi; Lontok, Erik; Salka, Danielle; Stevens, Melissa

    2017-03-01

    The Milken Institute Center for Strategic Philanthropy has launched a Giving Smarter Program in Epilepsy to inform philanthropists on the state of the science for the epilepsy field, key challenges, and solutions to address them. As part of the program, the Milken Institute Center for Strategic Philanthropy hosted a retreat to identify strategic investments that would accelerate epilepsy research to ultimately improve care. The top three prioritized opportunities from the retreat were to 1) invest in data standards and analytical tool development, 2) support young investigators, and 3) promote cross-sector collaborations especially between basic scientists, preclinical researchers, clinicians, and patients.

  7. Do certain signal transduction mechanisms explain the comorbidity of epilepsy and mood disorders?

    Science.gov (United States)

    Rocha, Luisa; Alonso-Vanegas, Mario; Orozco-Suárez, Sandra; Alcántara-González, David; Cruzblanca, Humberto; Castro, Elena

    2014-09-01

    It is well known that mood disorders are highly prevalent in patients with epilepsy. Although several studies have aimed to characterize alterations in different types of receptors associated with both disturbances, there is a lack of studies focused on identifying the causes of this comorbidity. Here, we described some changes at the biochemical level involving serotonin, dopamine, and γ-aminobutyric acid (GABA) receptors as well as signal transduction mechanisms that may explain the coexistence of both epilepsy and mood disorders. Finally, the identification of common pathophysiological mechanisms associated with receptor-receptor interaction (heterodimers) could allow designing new strategies for treatment of patients with epilepsy and comorbid mood disorders.

  8. Deterministic dynamics of neural activity during absence seizures in rats

    Science.gov (United States)

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

    2009-04-01

    The study of brain electrical activities in terms of deterministic nonlinear dynamics has recently received much attention. Forbidden ordinal patterns (FOP) is a recently proposed method to investigate the determinism of a dynamical system through the analysis of intrinsic ordinal properties of a nonstationary time series. The advantages of this method in comparison to others include simplicity and low complexity in computation without further model assumptions. In this paper, the FOP of the EEG series of genetic absence epilepsy rats from Strasbourg was examined to demonstrate evidence of deterministic dynamics during epileptic states. Experiments showed that the number of FOP of the EEG series grew significantly from an interictal to an ictal state via a preictal state. These findings indicated that the deterministic dynamics of neural networks increased significantly in the transition from the interictal to the ictal states and also suggested that the FOP measures of the EEG series could be considered as a predictor of absence seizures.

  9. Optimized methods for epilepsy therapy development using an etiologically realistic model of focal epilepsy in the rat.

    Science.gov (United States)

    Eastman, Clifford L; Fender, Jason S; Temkin, Nancy R; D'Ambrosio, Raimondo

    2015-02-01

    Conventionally developed antiseizure drugs fail to control epileptic seizures in about 30% of patients, and no treatment prevents epilepsy. New etiologically realistic, syndrome-specific epilepsy models are expected to identify better treatments by capturing currently unknown ictogenic and epileptogenic mechanisms that operate in the corresponding patient populations. Additionally, the use of electrocorticography permits better monitoring of epileptogenesis and the full spectrum of acquired seizures, including focal nonconvulsive seizures that are typically difficult to treat in humans. Thus, the combined use of etiologically realistic models and electrocorticography may improve our understanding of the genesis and progression of epilepsy, and facilitate discovery and translation of novel treatments. However, this approach is labor intensive and must be optimized. To this end, we used an etiologically realistic rat model of posttraumatic epilepsy, in which the initiating fluid percussion injury closely replicates contusive closed-head injury in humans, and has been adapted to maximize epileptogenesis and focal non-convulsive seizures. We obtained week-long 5-electrode electrocorticography 1 month post-injury, and used a Monte-Carlo-based non-parametric bootstrap strategy to test the impact of electrode montage design, duration-based seizure definitions, group size and duration of recordings on the assessment of posttraumatic epilepsy, and on statistical power to detect antiseizure and antiepileptogenic treatment effects. We found that use of seizure definition based on clinical criteria rather than event duration, and of recording montages closely sampling the activity of epileptic foci, maximize the power to detect treatment effects. Detection of treatment effects was marginally improved by prolonged recording, and 24h recording epochs were sufficient to provide 80% power to detect clinically interesting seizure control or prevention of seizures with small groups

  10. Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies

    Science.gov (United States)

    Zeng, Hongwu; He, Xiaoming; Li, Feng; Zhang, Jian; Huang, Bingsheng

    2017-01-01

    Objective We aimed to identify the consistent regions of gray matter volume (GMV) abnormalities in idiopathic generalized epilepsy (IGE), and to study the difference of GMV abnormalities among IGE subsyndromes by applying activation likelihood estimation (ALE) meta-analysis. Methods A systematic review of VBM studies on GMV of patients with absence epilepsy (AE), juvenile myoclonic epilepsy (JME), IGE and controls indexed in PubMed and ScienceDirect from January 1999 to June 2016 was conducted. A total of 12 IGE studies, including 7 JME and 3 AE studies, were selected. Meta-analysis was performed on these studies by using the pooled and within-subtypes analysis (www.brainmap.org). Based on the above results, between-subtypes contrast analysis was carried out to detect the abnormal GMV regions common in and unique to each subtype as well. Results IGE demonstrated significant GMV increase in right ventral lateral nucleus (VL) and right medial frontal gyrus, and significant GMV decrease in bilateral pulvinar. For JME, significant GMV increase was seen in right medial frontal gyrus, right anterior cingulate cortex (ACC), while significant GMV decrease was found in right pulvinar. In AE, the most significant GMV increase was found in right VL, and slight GMV reduction was seen in right medial dorsal nucleus, right subcallosal gyrus, left caudate and left precuneus. No overlapped and unique regions with significant GMV abnormalities were found between JME and AE. Significance This meta-analysis demonstrated that thalamo-frontal network was a structure with significant GMV abnormality in IGE, and the IGE subsyndromes showed different GMV abnormal regions. These observations may provide instructions on the clinical diagnosis of IGE. PMID:28060866

  11. [Generalized or focal photosensitive epilepsies].

    Science.gov (United States)

    Parain, D

    1998-11-01

    Photosensitivity is defined by a pattern of occipital or more diffuse spikes and waves. Several techniques are needed for exploration: intermittent light stimulation (ILS), patterns, TV-screen, video games. Photosensitivity is a genetic characteristic. Only diffuse spikes and waves induced by ILS are correlated with epilepsy. Pure photogenic epilepsy is characterized by seizures induced by visual stimuli alone, usually by TV-screen. Video games may also have a triggering effect due to the slow-moving patterns or intense brightness. Several epileptic syndromes are associated with photosensitivity with or without visually-induced seizures. These syndromes are most often generalized and idiopathic.

  12. Overview: epilepsy surgery in developing countries.

    Science.gov (United States)

    Wieser, H G; Silfvenius, H

    2000-01-01

    Epilepsy surgery (ES) is addressed in relation to economic classifications of national resources and welfare in developing countries. A decade ago, ten developing countries conducted ES; now 26 such countries have reported results of ES. A number of international authorities define indicators of national economic welfare. Adopting the economic classification of the International Monetary Fund. we find that ES is nonexistent in 98% of African countries, 76% of Asian countries, 58% of European countries, 82% of Middle East countries, and in 86% of countries of the Western Hemisphere. The 1980-1990 global ES survey conducted by the International League Against Epilepsy identified ten developing countries reporting ES (DCRES): Brazil, China, Czechoslovakia, Hungary, Mexico, Poland, Taiwan, the U.S.S.R., Yugoslavia, and Viet Nam. The present survey based on the proceedings of the 19th-23rd International Epilepsy Congresses and Medline reports from 1991 to November 1999 revealed at least 26 (18.3%) DCRES of 142 developing countries: Argentina, Brazil, Chile, China, Colombia, Czech Republic, Egypt, Estonia, Hungary, India, Iran, Israel, Korea, Lithuania, Mexico, P.R.China, the U.S.S.R., Singapore, Slovenia, South Africa, South Korea, Taiwan, Turkey, Ukraine, Uruguay, and former Yugoslavia. National vital statistics expose the hardships of developing countries. The population ratio of developed countries to developing countries is approximately 1:5. The reverse per capita Gross Domestic Product ratio is 20:1. Great disparities exist in vital statistics, all to the disadvantage of the DCRES. The World Health Organization defines health-related sectors geographically, then divides developing countries into several subgroups. Disability caused by length of disease and years lived with disability can be quantified monetarily for epilepsy, and the total health expenditures of developed and developing countries can be compared. The DCRES are short of technology, and their ES

  13. Psychodiagnostische problemen van de epilepsie/ Psychodiagnostic problems of epilepsy

    NARCIS (Netherlands)

    Boeke, Pieter Elisa

    1962-01-01

    Het begrip epilepsie wordt aan een analyse onderworpen als datgene, of die diagnose, waarover aan de hand van de resultaten van de Bourdon een uitspraak moet worden gedaan. De geschiedenis van de Bourdon en de onderzoekingen met en over deze test worden geschetst, waarna een overzicht volgt van onze

  14. Charles Dickens (1812-1870) and epilepsy.

    Science.gov (United States)

    Larner, A J

    2012-08-01

    To coincide with the bicentenary of the birth of Charles Dickens (1812-1870), accounts of epilepsy found in his novels and journalism have been collated and analyzed. From these, it may be inferred that Dickens was clearly aware of the difference between epilepsy and syncope and recognized different types of epilepsy and that seizures could be fatal. Speculations that Dickens himself suffered from epilepsy are not corroborated. Dickens's novelistic construction of epilepsy as a marker of criminality, as in the characters of Monks in Oliver Twist and Bradley Headstone in Our Mutual Friend, and perhaps of mental abnormality, was in keeping with conventional contemporary views of epilepsy, but his journalistic descriptions of individuals with epilepsy confined in the workhouse system indicate an awareness of the inadequacy of their care.

  15. Parental Infertility, Fertility Treatment, and Childhood Epilepsy

    DEFF Research Database (Denmark)

    Kettner, Laura O.; Ramlau-Hansen, Cecilia H.; Kesmodel, Ulrik S.

    2016-01-01

    BACKGROUND: A few studies have indicated an increased risk of epilepsy in children conceived by fertility treatment possibly due to characteristics of the infertile couple rather than the treatment. We therefore aimed to investigate the association between parental infertility, fertility treatment....... RESULTS: A total of 60 440 pregnancies were included, and 0.8% of the children developed epilepsy.The primary analyses showed no association between parental infertility or fertility treatment, and the overall risk of childhood epilepsy (hazard rate ratios (HRs); 95% confidence intervals (CIs): 1.08 (0......, and epilepsy in the offspring, including the subtypes of epilepsy; idiopathic generalised epilepsy and focal epilepsy. METHODS: This cohort included all pregnancies resulting in liveborn singletons from the Aarhus Birth Cohort, Denmark (1995-2013). Information on time to pregnancy and fertility treatment...

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    IMPORTANCE: Pertussis is associated with encephalopathy and seizures in infants. However, the risk of childhood epilepsy following pertussis is unknown. OBJECTIVE: To examine whether pertussis is associated with the long-term risk of epilepsy. DESIGN, SETTING, AND PARTICIPANTS: We used individually...... with pertussis, matched on sex and year of birth. EXPOSURES: Inpatient or hospital-based outpatient diagnosis of pertussis. MAIN OUTCOMES AND MEASURES: Cumulative incidence and hazard ratio of time to hospital-based epilepsy diagnosis (pertussis cohort vs general population cohort), adjusted for birth year, sex......, maternal history of epilepsy, presence of congenital malformations, and gestational age. Unique personal identifiers permitted unambiguous data linkage and complete follow-up for death, emigration, and hospital contacts. RESULTS: We identified 4700 patients with pertussis (48% male), of whom 90 developed...

  17. Graduated clinical manifestations according to mutation type in patients with severe myoclonic epilepsy in infancy

    DEFF Research Database (Denmark)

    Brusgaard, Klaus; Møller, Rikke Steensbjerre; Dahl, Hans Atli

    Background Severe myoclonic epilepsy in infancy (SMEI) is a severe form of generalized epilepsy with febrile seizures (GEFS+). SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life....... Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. SME is considered to be the most severe phenotype within the spectrum of GEFS+. SME is a malignant epileptic...

  18. A model of posttraumatic epilepsy induced by lateral fluid-percussion brain injury in rats.

    Science.gov (United States)

    Kharatishvili, I; Nissinen, J P; McIntosh, T K; Pitkänen, A

    2006-06-30

    Although traumatic brain injury is a major cause of symptomatic epilepsy, the mechanism by which it leads to recurrent seizures is unknown. An animal model of posttraumatic epilepsy that reliably reproduces the clinical sequelae of human traumatic brain injury is essential to identify the molecular and cellular substrates of posttraumatic epileptogenesis, and perform preclinical screening of new antiepileptogenic compounds. We studied the electrophysiologic, behavioral, and structural features of posttraumatic epilepsy induced by severe, non-penetrating lateral fluid-percussion brain injury in rats. Data from two independent experiments indicated that 43% to 50% of injured animals developed epilepsy, with a latency period between 7 weeks to 1 year. Mean seizure frequency was 0.3+/-0.2 seizures per day and mean seizure duration was 113+/-46 s. Behavioral seizure severity increased over time in the majority of animals. Secondarily-generalized seizures comprised an average of 66+/-37% of all seizures. Mossy fiber sprouting was increased in the ipsilateral hippocampus of animals with posttraumatic epilepsy compared with those subjected to traumatic brain injury without epilepsy. Stereologic cell counts indicated a loss of dentate hilar neurons ipsilaterally following traumatic brain injury. Our data suggest that posttraumatic epilepsy occurs with a frequency of 40% to 50% after severe non-penetrating fluid-percussion brain injury in rats, and that the lateral fluid percussion model can serve as a clinically-relevant tool for pathophysiologic and preclinical studies.

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

    DEFF Research Database (Denmark)

    Jonasson, Charlotte

    2011-01-01

    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...... 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...... performance. It is helpful to describe these findings using theoretical frameworks from sociology and psychology: specifically, spill-over theory and symbolic capital theory. Conclusions: This study has demonstrated how different forms of absence become dynamically interrelated through ongoing negotiations...

  20. Aggravation of symptomatic occipital epilepsy of childhood by carbamazepine

    Directory of Open Access Journals (Sweden)

    Škrijelj Fadil E.

    2014-01-01

    Full Text Available Introduction. Carbamazepine can lead to aggravation of epileptic seizures in generalized epilepsies (primary or secondary with clinical manifestations of absence (typical or atypical and/or myoclonic seizures. However, some focal epilepsies can be also aggravated by the introduction of carbamazepine. Case report. We presented a 10-year-old boy born after a complicated and prolonged delivery completed by vacuum extraction, of early psychomotor development within normal limits. At the age of 8 years he had the first epileptic seizure of simple occipital type with generalization and urination. Brain magnetic resonance imaging (MRI showed focal cortical reductions in the left parietal and occipital regions. Interictal EEG recorded slowed basic activities above the posterior regions of the left hemisphere, with intermittent occurrence of occipital sharp waves and bioccipital sharp and slow-wave complexes. Initially, treatment with valproate was administered; however, the addition of carbamazepine into therapy induced aggravation of seizures and EEG findings, changed behavior and poor performance at school. By withdrawal of carbamazepine the condition improved both clinically and in EEG findings. Conclusion. Childhood occipital epilepsy lesions show deterioration due to carbamazepine, which if administered induces aggravation of seizures, behavior changes, cognition with occurrence of long-term bilateral discharges, and posterior sharp and slow wave high amplitude complexes recorded by EEG.

  1. Corpus callosotomy in a patient with startle epilepsy.

    Science.gov (United States)

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

    2013-03-01

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

  2. Stress, the hippocampus, and epilepsy

    NARCIS (Netherlands)

    Joëls, M.

    2009-01-01

    Stress is among the most frequently self-reported precipitants of seizures in patients with epilepsy. This review considers how important stress mediators like corticotropin-releasing hormone, corticosteroids, and neurosteroids could contribute to this phenomenon. Cellular effects of stress mediator

  3. Yoga for control of epilepsy.

    Science.gov (United States)

    Yardi, N

    2001-01-01

    Yoga is an age-old traditional Indian psycho-philosophical-cultural method of leading one's life, that alleviates stress, induces relaxation and provides multiple health benefits to the person following its system. It is a method of controlling the mind through the union of an individual's dormant energy with the universal energy. Commonly practiced yoga methods are 'Pranayama' (controlled deep breathing), 'Asanas' (physical postures) and 'Dhyana' (meditation) admixed in varying proportions with differing philosophic ideas. A review of yoga in relation to epilepsy encompasses not only seizure control but also many factors dealing with overall quality-of-life issues (QOL). This paper reviews articles related to yoga and epilepsy, seizures, EEG, autonomic changes, neuro-psychology, limbic system, arousal, sleep, brain plasticity, motor performance, brain imaging studies, and rehabilitation. There is a dearth of randomized, blinded, controlled studies related to yoga and seizure control. A multi-centre, cross-cultural, preferably blinded (difficult for yoga), well-randomized controlled trial, especially using a single yogic technique in a homogeneous population such as Juvenile myoclonic epilepsy is justified to find out how yoga affects seizure control and QOL of the person with epilepsy.

  4. Sleep Disorders, Epilepsy, and Autism

    Science.gov (United States)

    Malow, Beth A.

    2004-01-01

    The purpose of this review article is to describe the clinical data linking autism with sleep and epilepsy and to discuss the impact of treating sleep disorders in children with autism either with or without coexisting epileptic seizures. Studies are presented to support the view that sleep is abnormal in individuals with autistic spectrum…

  5. ECG changes in epilepsy patients

    DEFF Research Database (Denmark)

    Tigaran, S; Rasmussen, V; Dam, M

    1997-01-01

    To investigate the frequency of ECG abnormalities suggestive of myocardial ischaemia in patients with severe drug resistant epilepsy and without any indication of previous cardiac disease, assuming that these changes may be of significance for the group of epileptic patients with sudden unexpected...

  6. Predictors of outcome in the surgical treatment for epilepsy

    Institute of Scientific and Technical Information of China (English)

    YANG Xiao-lan; LU Qin-chi; XU Ji-wen; WANG Gui-song; LIU Qiang

    2011-01-01

    Background Knowledge about factors influencing the prognosis of resective epilepsy surgery can be used to identify which patients are most suitable for surgical treatment.The aim of this study was to identify preoperative prognostic factors associated with the chance of achieving long-term seizure freedom.Methods We retrospectively reviewed seizure outcomes and clinical,electroencephalography (EEG),magnetic resonance imaging (MRI),histopathology,and surgical variables from 99 epilepsy surgery patients with at least one year of postoperative follow-up.Seizure outcomes were categorized based on the modified classification by the International League Against Epilepsy.Results We found that the seizure-free rate was 27.9% after one year,and that it stabilized at about 20.0% between two and six years after surgery.Univariate analysis showed that medial temporal lobe epilepsy with hippocampal sclerosis,MRI with visible focal lesions concordant with EEG,and regional ictal EEG and electrocorticography patterns were associated with a favorable surgical outcome.On the other hand,seizure recurrence within six months,incomplete focus resection,and surgical complications were associated with a poor outcome.Multivariate analysis showed that medial temporal lobe epilepsy with hippocampal sclerosis and MRI with visible focal lesions were independent presurgical predictors of a favorable outcome (P <0.01).Seizure recurrence within six months was the only significant independent predictor associated with a poor outcome (P <0.01).Conclusion Hippocampal sclerosis and abnormal MRI findings are strongly associated with a favorable surgical outcome,whereas seizure recurrence within six months is associated with a poor outcome.

  7. Cortical control of generalized absence seizures: Effect of lidocaine applied to the somatosensory cortex in WAG-Rij rats

    NARCIS (Netherlands)

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

    2004-01-01

    The role of the somatosensory cortex (SmI) in the incidence of spike-wave discharges (SWDs) was studied in a genetic model of absence epilepsy, WAG/Rij rats. SWDs were recently shown to initiate at the perioral area of the SmI and spread over the cortex and thalamus within a few milliseconds [J. Neu

  8. Epilepsy and tropical parasitic infections in Sub-Saharan Africa: A review.

    Science.gov (United States)

    Mazigo, Humphrey D; Morona, Domenica; Kweka, Eliningaya J; Waihenya, Rebecca; Mnyone, Ladslaus L; Heukelbach, Jorg

    2013-04-01

    Several reports have suggested that the high prevalence of epilepsy in sub-Saharan Africa is associated with the high prevalence of parasitic infections affecting the central nervous system. Though epidemiological evidence suggests an association between parasitic infections and epilepsy, the biological causal relationship has not been fully demonstrated for many of these infections. The objective of this paper is to review the available epidemiological evidence on the links between parasitic infections and epilepsy, the pathogenesis and the current gap of knowledge indicating the areas requiring further research. Data for this review were identified and collected using manual and electronic search strategies of published and unpublished sources. In Sub-Saharan Africa, the epidemiology of epilepsy remains unclear and given the differing study designs, the results of available epidemiological studies are difficult to interpret and compare. Evidence from surveys reported a median prevalence of 1.5%. Co-infection of parasitic infections and epilepsy in sub-Saharan Africa are common, particularly in areas characterized by poor hygiene standards. There is an epidemiological link on the association between epilepsy and various parasitic infections. However, the biological causal relationship requires further investigation in adequately designed studies. In conclusion, although several epidemiological and case control studies indicate a relationship between parasitic agents and epilepsy in sub-Saharan Africa, there is a considerable gap of knowledge on the cause and magnitude of the association. Thus, there is an urgent need for systematic epidemiological studies to understand the burden of epilepsy in areas endemic due to preventable parasitic infections, to prove a causal relationship, and to understand the impact of controlling these parasitic diseases on reduction of the burden of epilepsy.

  9. CLINICAL, NEUROPSYCHOLOGICAL AND NEUROPHYSIOLOGICAL CORRELATES OF DRUG RESISTANT JUVENILE MYOCLONIC EPILEPSY

    Directory of Open Access Journals (Sweden)

    Davis

    2015-09-01

    Full Text Available This study was designed to find the clinical, neuropsychologic, EEG and TMS (Transcranial Magnetic Stimulation characteristics of patients with treatment resistant Juvenile Myoclonic Epilepsy (JME. JME diagnosis was according to the criteria defined by Classification and Terminology Commission of the International League Against Epilepsy. For the purpose of this study, ‘treatment resistance’ was defined as having two or more generalized tonic - clonic sei zures (GTCS or disabling myoclonus resulting in falls, while on optimal dose of a first - line anti - epileptic drug for JME, with proper compliance. All the patients with JME presenting during the study period underwent detailed clinical and EEG evaluation. Hospital Anxiety and Depression score (HADS was used to screen for anxiety and depression. Single and paired pulse (TMS parameters were used to measure cortical excitability. We identified 190 patients with JME during the study period, of which 30 (15.8% were diagnosed as having treatment resistance JME. Patients with drug resistant JME were found to have statistically significant markers in the form of - later age of onset of myoclonic jerks, absence of typical early morning myoclonia, higher scores for depression and anxiety, low IQ scores and persistent EEG abnormalities while on treatment. Frequency of GTCS showed inverse correlation with IQ scores and direct correlation to the anxiety/depression scores. These patients also had paradoxically decreased cortical excitability, probably related to the high antiepileptic drug doses they were taking. We conclude that treatment resistance in JME is not very rare and that such patients form a distinct subtype with certain atypical clinical and electrophysiolog ical characteristics, with a higher risk of developing anxiety and depression

  10. Endoscopic epilepsy surgery: Emergence of a new procedure

    Directory of Open Access Journals (Sweden)

    Sarat P Chandra

    2015-01-01

    Conclusion: The article emphasizes the role of endoscopic procedures for epilepsy surgery and provides a review of literature. This experience may subserve to coin the term "endoscopic epilepsy surgery" for a fast emerging subspeciality in the field of epilepsy surgery.

  11. Genetics Home Reference: pyridoxal 5'-phosphate-dependent epilepsy

    Science.gov (United States)

    ... 5'-phosphate-dependent epilepsy pyridoxal 5'-phosphate-dependent epilepsy Enable Javascript to view the expand/collapse boxes. ... All Close All Description Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon ...

  12. Long-Term Social Outcomes in Childhood Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-12-01

    Full Text Available Population-based longitudinal and cross-sectional studies of social outcomes of children with epilepsy in different countries are reviewed by researchers at Dalhousie University, Halifax, Nova Scotia, Canada.Epilepsy, Chronic Disease, Idiopathic Epilepsy.

  13. CHD2 variants are a risk factor for photosensitivity in epilepsy

    DEFF Research Database (Denmark)

    Galizia, Elizabeth C.; Myers, Candace T.; Leu, Costin

    2015-01-01

    Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic...... encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal...... without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia...

  14. Long-term socioeconomic consequences and health care costs of childhood and adolescent-onset epilepsy

    DEFF Research Database (Denmark)

    Jennum, Poul; Christensen, Jakob; Ibsen, Rikke

    2016-01-01

    OBJECTIVE: To estimate long-term socioeconomic consequences and health care costs of epilepsy with onset in childhood and adolescence. METHODS: A historical prospective cohort study of Danish individuals with epilepsy, age up to 20 years at time of diagnosis between January 1981 and December 2012....... Information about marital status, parenthood, educational level, employment status, income, use of the health care system, and cost of medicine was obtained from nationwide administrative and health registers. RESULTS: We identified 12,756 and 28,319 people with diagnosed with epilepsy, ages 0-5 and 6....... Income was lower from employment, which in part was compensated by social security, sick pay, disability pension and unemployment benefit, sick pay (public-funded), disability pension, and other public transfers. Predicted health care costs 30 years after epilepsy onset were significantly higher among...

  15. How might novel technologies such as optogenetics lead to better treatments in epilepsy?

    Science.gov (United States)

    Krook-Magnuson, Esther; Ledri, Marco; Soltesz, Ivan; Kokaia, Merab

    2014-01-01

    Recent technological advances open exciting avenues for improving the understanding of mechanisms in a broad range of epilepsies. This chapter focuses on the development of optogenetics and on-demand technologies for the study of epilepsy and the control of seizures. Optogenetics is a technique which, through cell-type selective expression of light-sensitive proteins called opsins, allows temporally precise control via light delivery of specific populations of neurons. Therefore, it is now possible not only to record interictal and ictal neuronal activity, but also to test causality and identify potential new therapeutic approaches. We first discuss the benefits and caveats to using optogenetic approaches and recent advances in optogenetics related tools. We then turn to the use of optogenetics, including on-demand optogenetics in the study of epilepsies, which highlights the powerful potential of optogenetics for epilepsy research.

  16. Families' experiences of living with pediatric epilepsy: A qualitative systematic review.

    Science.gov (United States)

    Harden, Jeni; Black, Rebecca; Chin, Richard F M

    2016-07-01

    Living with epilepsy in childhood has implications for the child and their family beyond the physical effects associated with epileptic seizures. Qualitative research has emerged, aiming to deliver a greater depth of understanding of the experiences of living with epilepsy from the perspectives of children with epilepsy, their parents, and their siblings. This review of qualitative research had three aims: first, to synthesize the demographic and epilepsy profiles of research participants in eligible studies in order to provide a clear picture of who are included and excluded when studying families' experiences; second, to present and discuss the methodological concerns and implications of research involving children with epilepsy; and third, to synthesize the findings arising from qualitative research with families in order to identify common themes across all relevant studies to date. Papers published in the English language prior to January 2016 were identified following a search of eight electronic databases: Embase, Psychinfo, Medline, CINAHL, Web of Knowledge, ASSIA, Web of Science, and SCOPUS. Studies were included if they involved a sample of children with epilepsy (up to 18years of age), parents, or siblings of children with epilepsy and used qualitative methods. Twenty-one studies were identified as eligible for inclusion in the review. Findings in relation to the three aims were the following: 1) Researchers were seeking an understanding of children's experiences directly from children rather than by parental proxy. However, children with learning disabilities were often excluded from research, meaning that their views are not being heard. Parental research was predominantly with mothers, and father experiences were not often accessed. There was very little research with siblings. 2) The rationale for and ethical implications of the choice of research methods adopted were not always clear, and not all studies gave adequate attention to the development of

  17. Prevalence and characteristics of epilepsy in the Belgian shepherd variants Groenendael and Tervueren born in Denmark 1995–2004

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    Fredholm Merete

    2008-12-01

    Full Text Available Abstract Background The Belgian shepherd Groenendael and Tervueren is believed to be at higher risk of developing epilepsy than dogs of the common population. This epidemiological study was designed to estimate the prevalence of epilepsy in the Danish population of Groenendael and Tervueren born between 1995 and 2004. Furthermore, it was the intention to describe the clinical manifestation (seizure types and phenomenology of epilepsy and to identify risk factors for euthanasia once the dog was diagnosed as having epilepsy. Methods All owners of Groenendael and Tervueren dogs born between January 1995 and December 2004 and registered in the Danish Kennel Club (1,248 dogs were contacted and asked to answer a mailed questionnaire concerning epilepsy. Positive responders were subsequently validated in a follow-up interview conducted by telephone using a standardized questionnaire. Owners were questioned about age at first seizure, seizure frequency, seizure duration, a detailed description of seizure phenomenology, post-ictal signs and if a veterinarian had diagnosed the dog with epilepsy. Results Prevalence of epilepsy was estimated at 9.5%. Mean age of epilepsy debut was 3.3 years (range 0.5–8.0 years. There was an almost equal number of Groenendael (25 and Tervueren (24. The distribution of females and males was 31 and 18 respectively. Twenty-five per cent experienced focal seizures, 53% experienced focal seizures with secondary generalization and 18% experienced primary generalized seizures. In four percent seizures were unclassifiable. The most commonly reported focal seizure phenomenology included ataxia, crawling, swaying, fearful behavior, salivation, excessive attention seeking and disorientation. In 16% of the cases, epilepsy led to euthanasia. Intact dogs with epilepsy had a significantly increased risk of being euthanized because of epilepsy compared to neutered dogs with epilepsy. In 22% of the cases the owners reported that anxiety

  18. Epilepsy and neurocysticercosis in Latin America: a systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Elisa Bruno

    Full Text Available BACKGROUND: 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. METHODOLOGY: 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. PRINCIPAL FINDINGS: 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. SIGNIFICANCE: 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.

  19. Prevalance and characteristics of epilepsy in the Belgian shepherd variants Groenendael and Tervueren born in Denmark 1995-2004

    DEFF Research Database (Denmark)

    Berendt, Mette; Gulløv, Christina Hedal; Christensen, Stine Louise Krogh

    2008-01-01

    BACKGROUND: The Belgian shepherd Groenendael and Tervueren is believed to be at higher risk of developing epilepsy than dogs of the common population. This epidemiological study was designed to estimate the prevalence of epilepsy in the Danish population of Groenendael and Tervueren born between...... 1995 and 2004. Furthermore, it was the intention to describe the clinical manifestation (seizure types and phenomenology) of epilepsy and to identify risk factors for euthanasia once the dog was diagnosed as having epilepsy. METHODS: All owners of Groenendael and Tervueren dogs born between January...... 1995 and December 2004 and registered in the Danish Kennel Club (1,248 dogs) were contacted and asked to answer a mailed questionnaire concerning epilepsy. Positive responders were subsequently validated in a follow-up interview conducted by telephone using a standardized questionnaire. Owners were...

  20. Depression and Anxiety in Iranian Mothers of Children with Epilepsy

    Directory of Open Access Journals (Sweden)

    Atefeh SOLTANIFAR

    2012-03-01

    Full Text Available bjectiveEpilepsy is a common neurological disorder in children. Parents with epileptic children have many psychosocial care needs. So the main goal of this study was to evaluate depression and anxiety in Iranian mothers with epileptic children.Materials & MethodsWe identified 30 mothers of children with epilepsy and 30 mothers of children without epilepsy with children aged between 8 and 12 years who met the study criteria. In all children with epilepsy, the mothers were the main caregivers and all these children lived in two-parent families. Children in the control group were in the same age. Ninety-eight percent of children in the control group lived in two-parent families with the mother as the main caregiver. All mothers fulfilled the Beck Depression Inventory (BDI and Spielberger State-Trait Anxiety Inventory.ResultsAccording to these data, BDI scores were significantly higher in the mothers of epileptic children (mean of Beck score=16.5 compared to the control group (mean of Beck score=9.8. The total, Spielberger State-Trait Anxiety Inventory scores for mothers of children with epilepsy were 100.3, 51.7 and 48.6. However, these scores in the control group were 86.9, 45.1 and 41.8. These differences were statistically significant.In a second analysis, using the demographic data, we did not find any statistically significant relation between anxiety or depression and the mothers’ job, children’s medication and other demographic variables.ConclusionNeurologists and psychiatrists need to develop better programs for adequate management of psychiatric disorders in mothers with epileptic children.

  1. Complex single gene disorders and epilepsy.

    LENUS (Irish Health Repository)

    Merwick, Aine

    2012-09-01

    Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.

  2. Focal epilepsy in the Belgian shepherd

    DEFF Research Database (Denmark)

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

    2009-01-01

    OBJECTIVES: To establish the mode of inheritance and describe the clinical features of epilepsy in the Belgian shepherd, taking the outset in an extended Danish dog family (199 individuals) of Groenendael and Tervueren with accumulated epilepsy. METHODS: Epilepsy positive individuals (living...... and deceased) were ascertained through a telephone interview using a standardised questionnaire regarding seizure history and phenomenology. Living dogs were invited to a detailed clinical evaluation. Litters more than five years of age, or where epilepsy was present in all offspring before the age of five......, were included in the calculations of inheritance. results: Out of 199 family members, 66 dogs suffered from epilepsy. The prevalence of epilepsy in the family was 33%. Fifty-five dogs experienced focal seizures with or without secondary generalisation, while four dogs experienced primary generalised...

  3. History of neuropsychology through epilepsy eyes.

    Science.gov (United States)

    Loring, David W

    2010-06-01

    In the 19th century, Hughlings Jackson relied on clinical history, seizure semiology, and the neurologic examination as methods for seizure localization to inform the first epilepsy surgeries. In the 20th century, psychological and neuropsychological tests were first employed as both diagnostic and prognostic measures. The contemporary practice of epilepsy evaluation and management includes neuropsychology as a critical component of epilepsy care and research, and epilepsy and neuropsychology have enjoyed a very special and synergistic relationship. This paper reviews how epilepsy has shaped the practice of neuropsychology as a clinical service by asking critical questions that only neuropsychologists were in a position to answer, and how clinical care of epilepsy patients has been significantly improved based on neuropsychology's unique contributions.

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

    Science.gov (United States)

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

    2015-11-01

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

  5. Epilepsie aktuell - Zusammenfassung der IVETF-Empfehlungen zum "Therapeutischen Management der kaninen Epilepsie in Europa"

    NARCIS (Netherlands)

    Bhatti, Sofie; De Risio, Luisa; Muñana, Karen; Penderis, Jacques; Stein, Veronika M; Tipold, Andrea; Berendt, Mette; Farquhar, Robyn; Fischer, Andrea; Long, Sam; Löscher, Wolfgang; Mandigers, P.J.J.; Matiasek, Kaspar; Pakozdy, Akos; Patterson, Ned; Platt, Simon; Podell, Michael; Potschka, Heidrun; Rusbridge, Clare; Volk, Holger A

    2016-01-01

    Das therapeutische Management der kaninen Epilepsie muss an die individuellen Bedürfnisse des Hundes und seines Besitzers angepasst werden. 2015 hat die International Veterinary Epilepsy Task Force (IVETF) die Konsensempfehlungen „Therapeutisches Management der kaninen Epilepsie in Europa“ veröffen

  6. A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders

    Directory of Open Access Journals (Sweden)

    M.Yu Bobylova

    2014-01-01

    Full Text Available The practical introduction of the latest genetic techniques could provide the basis for comorbidity of genetic epilepsies and behavioral disorders with cognitive impairments. This article describes a case of SNGAP1 mutation in an 8-year-old female patient having symptomatic epilepsy with epileptic eyelid myoclonia and atypical absences, atypical autism with mental retardation. A detailed clinical discussion deals with neurological and mental states, logopedic characteristics, and psychological examination findings, as well as video-EEG monitoring data.

  7. Ian Curtis: Punk rock, epilepsy, and suicide.

    Science.gov (United States)

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

    2015-11-01

    Ian Curtis was the front man of the post-punk band Joy Division. He suffered from epilepsy and actively incorporated his experiences of the disease in his lyrics. Curtis had frequent epileptic seizures, both on and off stage. After dying from suicide in 1980, he became a legend in the post-punk milieu. The impact which the epilepsy, the epilepsy treatment, and comorbid depression had on his artistic life and premature death is not well known.

  8. Parkinson’s Disease and Cryptogenic Epilepsy

    Directory of Open Access Journals (Sweden)

    Andre Y. Son

    2016-01-01

    Full Text Available Epilepsy is an uncommon comorbidity of Parkinson’s disease (PD and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85 who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  9. Neuromodulation in refractory epilepsy: Brazilian specialists consensus

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    Vera Cristina Terra

    Full Text Available ABSTRACT Epilepsy is a potentially devastating brain disorder characterized by a predisposition to spontaneous epileptic seizures. In patients with medically refractory epilepsy, new non-pharmacological therapeutic approaches may be considered. In this scenario, palliative surgery such as vagus nerve stimulation (VNS or deep brain stimulation (DBS may be indicated in a subset of patients. In this paper we make recommendations for the use of VNS and DBS in patients in Brazil with refractory epilepsy.

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

    Science.gov (United States)

    Jones, Chloe; Reilly, Colin

    2016-04-01

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

  11. Meyer's loop asymmetry and language lateralisation in epilepsy

    OpenAIRE

    Nowell, Mark; Vos, Sjoerd B; Sidhu, Meneka; Wilcoxen, Kaitlin; Sargsyan, Narek; Ourselin, Sebastien; Duncan, John S.

    2015-01-01

    Objectives Several studies have suggested an asymmetry in Meyer's loop in individuals, with the left loop anterior to the right. In this study we test the hypothesis that there is an association between Meyer's loop asymmetry (MLA) and language lateralisation. Methods 57 patients with epilepsy were identified with language functional MRI (fMRI) and diffusion MRI acquisition. Language lateralisation indices from fMRI(LI) and optic radiation and arcuate fasciculus probabilistic tractography was...

  12. Seizure metaphors in children with epilepsy: A study based on a multiple-choice self-report questionnaire.

    Science.gov (United States)

    D'Angelosante, Valentina; Tommasi, Marco; Casadio, Claudia; Verrotti, Alberto

    2015-05-01

    The advantages of metaphorical representation are pointed out in many fields of clinical research (e.g. cancer, HIV, psychogenic nonepileptic seizures). This study aimed at offering a novel contribution showing how children with epilepsy describe the symptomatology of their seizure experiences by means of particular kinds of cognitive metaphors. Twenty-three children with idiopathic generalized epilepsy and thirty-one healthy children were recruited for this study and interviewed with a multiple-choice questionnaire asking them to describe their epileptic seizures by means of suitable metaphors. A psychologist blinded to medical diagnosis assessed and categorized all metaphors. By considering the 89 metaphors produced by the children with epilepsy and the 147 ones by the healthy controls, Agent/Force was the primary metaphor assessed by children with epilepsy, followed by Event/Situation as the second preference. Moreover, comparing the results of the control group with those of the subjects with epilepsy, it was found that controls were oriented towards selecting exogenous forces, while subjects with epilepsy tended to select endogenous forces. In particular, children with epilepsy showed a peculiar preference for an endogenous force resembling the waggle metaphor, which is similar to the effect of a quake's shaking (earthquake or seaquake). The metaphors identified by this research are a useful resource to better understand the seizure experiences of patients with epilepsy, helping to improve clinical treatment.

  13. Addressing the treatment gap and societal impact of epilepsy in Rwanda--Results of a survey conducted in 2005 and subsequent actions.

    Science.gov (United States)

    Sebera, Fidèle; Munyandamutsa, Naasson; Teuwen, Dirk E; Ndiaye, Ibrahim Pierre; Diop, Amadou Gallo; Tofighy, Azita; Boon, Paul; Dedeken, Peter

    2015-05-01

    This study, supported by the Rwandan Ministry of Health and the World Health Organization, was conducted in 2005 to determine the prevalence of epilepsy and its sociocultural perception in Rwanda, as well as epilepsy-related knowledge and practices of health-care professionals (HCPs). A cross-sectional, nationally representative survey was conducted throughout Rwanda by trained investigators. Participants were recruited by random cluster sampling based on the organization of administrative units in the country. Overall, 1137 individuals (62% from rural areas) were interviewed. The prevalence of epilepsy was estimated to be 49 per 1000 people or 41 per 1000 for active epilepsy. Onset of epilepsy before the age of 2years was reported in 32% of the cases. Family history of epilepsy, head trauma, and premature delivery were reported in 53%, 50%, and 68% of the cases, respectively. Most (68%) patients did not receive any medical treatment for epilepsy; 21.5% had received some form of traditional treatment. According to responses from the general population, people with epilepsy should not be entitled to schooling (according to 66%), to work (according to 72%), to the use of public places (according to 69%), or to marriage (according to 66%). Furthermore, 50% believed that epilepsy was untreatable, and 40% thought that it was transmissible. Of the 29 HCPs interviewed, the majority knew the definition of epilepsy and status epilepticus, as well as basic treatment options and side effects. However, 90% believed that treatment was only necessary in the first week after a seizure. Living with epilepsy was associated heavily with stigma, and a significant treatment gap (68%) was identified. Following this study, numerous actions have been taken by the Rwandan government, the Rwandan League Against Epilepsy, and several nongovernmental organizations to increase awareness about epilepsy and to close the treatment gap. An overview of these activities is provided.

  14. Differential DNA methylation profiles of coding and non-coding genes define hippocampal sclerosis in human temporal lobe epilepsy.

    Science.gov (United States)

    Miller-Delaney, Suzanne F C; Bryan, Kenneth; Das, Sudipto; McKiernan, Ross C; Bray, Isabella M; Reynolds, James P; Gwinn, Ryder; Stallings, Raymond L; Henshall, David C

    2015-03-01

    Temporal lobe epilepsy is associated with large-scale, wide-ranging changes in gene expression in the hippocampus. Epigenetic changes to DNA are attractive mechanisms to explain the sustained hyperexcitability of chronic epilepsy. Here, through methylation analysis of all annotated C-phosphate-G islands and promoter regions in the human genome, we report a pilot study of the methylation profiles of temporal lobe epilepsy with or without hippocampal sclerosis. Furthermore, by comparative analysis of expression and promoter methylation, we identify methylation sensitive non-coding RNA in human temporal lobe epilepsy. A total of 146 protein-coding genes exhibited altered DNA methylation in temporal lobe epilepsy hippocampus (n = 9) when compared to control (n = 5), with 81.5% of the promoters of these genes displaying hypermethylation. Unique methylation profiles were evident in temporal lobe epilepsy with or without hippocampal sclerosis, in addition to a common methylation profile regardless of pathology grade. Gene ontology terms associated with development, neuron remodelling and neuron maturation were over-represented in the methylation profile of Watson Grade 1 samples (mild hippocampal sclerosis). In addition to genes associated with neuronal, neurotransmitter/synaptic transmission and cell death functions, differential hypermethylation of genes associated with transcriptional regulation was evident in temporal lobe epilepsy, but overall few genes previously associated with epilepsy were among the differentially methylated. Finally, a panel of 13, methylation-sensitive microRNA were identified in temporal lobe epilepsy including MIR27A, miR-193a-5p (MIR193A) and miR-876-3p (MIR876), and the differential methylation of long non-coding RNA documented for the first time. The present study therefore reports select, genome-wide DNA methylation changes in human temporal lobe epilepsy that may contribute to the molecular architecture of the epileptic brain.

  15. Differential DNA methylation profiles of coding and non-coding genes define hippocampal sclerosis in human temporal lobe epilepsy

    Science.gov (United States)

    Miller-Delaney, Suzanne F.C.; Bryan, Kenneth; Das, Sudipto; McKiernan, Ross C.; Bray, Isabella M.; Reynolds, James P.; Gwinn, Ryder; Stallings, Raymond L.

    2015-01-01

    Temporal lobe epilepsy is associated with large-scale, wide-ranging changes in gene expression in the hippocampus. Epigenetic changes to DNA are attractive mechanisms to explain the sustained hyperexcitability of chronic epilepsy. Here, through methylation analysis of all annotated C-phosphate-G islands and promoter regions in the human genome, we report a pilot study of the methylation profiles of temporal lobe epilepsy with or without hippocampal sclerosis. Furthermore, by comparative analysis of expression and promoter methylation, we identify methylation sensitive non-coding RNA in human temporal lobe epilepsy. A total of 146 protein-coding genes exhibited altered DNA methylation in temporal lobe epilepsy hippocampus (n = 9) when compared to control (n = 5), with 81.5% of the promoters of these genes displaying hypermethylation. Unique methylation profiles were evident in temporal lobe epilepsy with or without hippocampal sclerosis, in addition to a common methylation profile regardless of pathology grade. Gene ontology terms associated with development, neuron remodelling and neuron maturation were over-represented in the methylation profile of Watson Grade 1 samples (mild hippocampal sclerosis). In addition to genes associated with neuronal, neurotransmitter/synaptic transmission and cell death functions, differential hypermethylation of genes associated with transcriptional regulation was evident in temporal lobe epilepsy, but overall few genes previously associated with epilepsy were among the differentially methylated. Finally, a panel of 13, methylation-sensitive microRNA were identified in temporal lobe epilepsy including MIR27A, miR-193a-5p (MIR193A) and miR-876-3p (MIR876), and the differential methylation of long non-coding RNA documented for the first time. The present study therefore reports select, genome-wide DNA methylation changes in human temporal lobe epilepsy that may contribute to the molecular architecture of the epileptic brain. PMID

  16. Symptomatic Epilepsies due to Cerebrovascular Diseases

    Science.gov (United States)

    Dakaj, Nazim; Shatri, Nexhat; Isaku, Enver; Zeqiraj, Kamber

    2014-01-01

    Introduction: Cerebro-vascular diseases (CVD) are the leading cause of symptomatic epilepsies. This study aims to investigate: a) Frequency of epilepsy in patients with CVD; b) Correlation of epilepsy with the type of CVD (ischemic and hemorrhage) and with age. Methodology: It is analyzed medical documentation of 816 hospitalized patients with CVD in the clinic of Neurology in University Clinical Center (UCC) during the period January - December 2010. The study included data on patients presenting with epileptic seizures after CVD, and those with previously diagnosed epilepsy, are not included in the study. The diagnosis of CVD, are established in clinical neurological examination and the brain imaging (computer tomography and magnetic resonance imaging). The diagnosis of epilepsy is established by the criteria of ILAE (International League against Epilepsy) 1983, and epileptic seizures are classified according to the ILAE classification, of 1981. Results: Out of 816 patients with CVD, 692 were with ischemic stroke and 124 with hemorrhage. From 816 patients, epileptic seizures had 81 (10%), of which 9 patients had been diagnosed with epilepsy earlier and they are not included in the study. From 72 (99%) patients with seizures after CVD 25 (33%) have been with ischemia, whereas 47 (67%) with hemorrhage. Conclusion: CVD present fairly frequent cause of symptomatic epilepsies among patients treated in the clinic of Neurology at UCC (about 10%). The biggest number of patients with epilepsy after CVD was with intracerebral hemorrhage. PMID:25685086

  17. Clinical Analysis of Partial Epilepsy with Auras

    Directory of Open Access Journals (Sweden)

    Yang Liu

    2017-01-01

    Conclusions: This study suggested that auras played an important role in the diagnosis, classification, and localization of epilepsy. Epileptic aura could help differentiate partial seizure from generalized seizure.

  18. EPILEPSY AND RISK OF SUICIDE (A REVIEW

    Directory of Open Access Journals (Sweden)

    O. A. Pylaeva

    2013-01-01

    Full Text Available The authors propose a fundamental review, devoted to the factors, wich increase the risk of suicidal behavior (suicidal ideation and suicide attempts in patients with epilepsy. It is known, that suicidal risk is increased 5 times more in patients with epilepsy, and 25 times more in patients with temporal lobe epilepsy and complex focal seizures, than in general population. The main factors, increasing suicidal risk in epilepsy, are comorbid affective disorders (depression, and psychosis. The authors also describe the role of antiepileptic drugs.

  19. Ketogenic diet for epilepsy treatment

    Directory of Open Access Journals (Sweden)

    Letícia Pereira de Brito Sampaio

    Full Text Available ABSTRACT The ketogenic diet (KD, a high-fat, low-carbohydrate, and adequate-protein diet is an established, effective nonpharmacologic treatment option for intractable childhood epilepsy. The KD was developed in 1921 and even though it has been increasingly used worldwide in the past decade, many neurologists are not familiar with this therapeutic approach. In the past few years, alternative and more flexible KD variants have been developed to make the treatment easier and more palatable while reducing side effects and making it available to larger group of refractory epilepsy patients. This review summarizes the history of the KD and the principles and efficacy of the classic ketogenic diet, medium-chain triglyceride(s (MCT ketogenic diet, modified Atkins diet, and low glycemic index treatment.

  20. Temporal Lobe Epilepsy in Children

    Directory of Open Access Journals (Sweden)

    Katherine C. Nickels

    2012-01-01

    Full Text Available The temporal lobe is a common focus for epilepsy. Temporal lobe epilepsy in infants and children differs from the relatively homogeneous syndrome seen in adults in several important clinical and pathological ways. Seizure semiology varies by age, and the ictal EEG pattern may be less clear cut than what is seen in adults. Additionally, the occurrence of intractable seizures in the developing brain may impact neurocognitive function remote from the temporal area. While many children will respond favorably to medical therapy, those with focal imaging abnormalities including cortical dysplasia, hippocampal sclerosis, or low-grade tumors are likely to be intractable. Expedient workup and surgical intervention in these medically intractable cases are needed to maximize long-term developmental outcome.

  1. [Hemiconvulsion-hemiplegia-epilepsy syndrome].

    Science.gov (United States)

    Vestergaard, Maiken; Uldall, Peter

    2014-12-22

    Hemiconvulsion-hemiplegia-epilepsy syndrome is a rare consequence of a status epilepticus in the course of a febrile illness in children under the age of four years. Various degrees of hemiplegia and within a variable interval, subsequent epilepsia follows. Neuroimaging show unilateral cytotoxic oedema at the initial convulsive state, followed by severe chronic atrophy of the affected hemisphere. The aetiology remains unclear. Several mechanisms may contribute to this condition. To improve the outcome, further studies are needed and early diagnosis is essential.

  2. Age-Dependent Increase of Absence Seizures and Intrinsic Frequency Dynamics of Sleep Spindles in Rats

    Directory of Open Access Journals (Sweden)

    Evgenia Sitnikova

    2014-01-01

    Full Text Available The risk of neurological diseases increases with age. In WAG/Rij rat model of absence epilepsy, the incidence of epileptic spike-wave discharges is known to be elevated with age. Considering close relationship between epileptic spike-wave discharges and physiologic sleep spindles, it was assumed that age-dependent increase of epileptic activity may affect time-frequency characteristics of sleep spindles. In order to examine this hypothesis, electroencephalograms (EEG were recorded in WAG/Rij rats successively at the ages 5, 7, and 9 months. Spike-wave discharges and sleep spindles were detected in frontal EEG channel. Sleep spindles were identified automatically using wavelet-based algorithm. Instantaneous (localized in time frequency of sleep spindles was determined using continuous wavelet transform of EEG signal, and intraspindle frequency dynamics were further examined. It was found that in 5-months-old rats epileptic activity has not fully developed (preclinical stage and sleep spindles demonstrated an increase of instantaneous frequency from beginning to the end. At the age of 7 and 9 months, when animals developed matured and longer epileptic discharges (symptomatic stage, their sleep spindles did not display changes of intrinsic frequency. The present data suggest that age-dependent increase of epileptic activity in WAG/Rij rats affects intrinsic dynamics of sleep spindle frequency.

  3. Qualitative Dermatoglyphics In Idiopathic Epilepsy

    Directory of Open Access Journals (Sweden)

    Ranganath Priya

    2004-01-01

    Full Text Available Genetic aetiology has been proposed for both idiopathic epilepsy and dermatoglyphics. Hence, the present study has been undertaken to find out the existence of any correlation between dermatoglyphics and idiopathic epilepsy. Material consisted of 100 patients (58 males and 42 females and 100 controls (52 males and 48 females. Patient′s age ranged from 5 to 40 years and controls were between 18 and 25 years. Dermatoglyphics were obtained by painting method. Qualitative parameters observed were percentage frequency of fingerprint patterns (loops, whorls and arches,, patterns in hypothenar area/ interdigital are and flexion creases (Simian crease, sydney line. On comparison with controls, in males, with hands combined, loops (52.24% and arches (7.93% were increased and whorls (39.83% were decreased (p<0.05. In females, with hands combined, arches (13.1% and whorls (36.43% were increased and loops (50.48% were decreased (p< 0.03. Significant differences have not been observed for the patterns in hypothenar area /interdigital area and flexion creases. These dermatoglyphics features could be used as additional markers to evaluate patients of epilepsy.

  4. Epilepsy genetics: the ongoing revolution.

    Science.gov (United States)

    Lesca, G; Depienne, C

    2015-01-01

    Epilepsies have long remained refractory to gene identification due to several obstacles, including a highly variable inter- and intrafamilial expressivity of the phenotypes, a high frequency of phenocopies, and a huge genetic heterogeneity. Recent technological breakthroughs, such as array comparative genomic hybridization and next generation sequencing, have been leading, in the past few years, to the identification of an increasing number of genomic regions and genes in which mutations or copy-number variations cause various epileptic disorders, revealing an enormous diversity of pathophysiological mechanisms. The field that has undergone the most striking revolution is that of epileptic encephalopathies, for which most of causing genes have been discovered since the year 2012. Some examples are the continuous spike-and-waves during slow-wave sleep and Landau-Kleffner syndromes for which the recent discovery of the role of GRIN2A mutations has finally confirmed the genetic bases. These new technologies begin to be used for diagnostic applications, and the main challenge now resides in the interpretation of the huge mass of variants detected by these methods. The identification of causative mutations in epilepsies provides definitive confirmation of the clinical diagnosis, allows accurate genetic counselling, and sometimes permits the development of new appropriate and specific antiepileptic therapies. Future challenges include the identification of the genetic or environmental factors that modify the epileptic phenotypes caused by mutations in a given gene and the understanding of the role of somatic mutations in sporadic epilepsies.

  5. Excessive masturbation after epilepsy surgery.

    Science.gov (United States)

    Ozmen, Mine; Erdogan, Ayten; Duvenci, Sirin; Ozyurt, Emin; Ozkara, Cigdem

    2004-02-01

    Sexual behavior changes as well as depression, anxiety, and organic mood/personality disorders have been reported in temporal lobe epilepsy (TLE) patients before and after epilepsy surgery. The authors describe a 14-year-old girl with symptoms of excessive masturbation in inappropriate places, social withdrawal, irritability, aggressive behavior, and crying spells after selective amygdalohippocampectomy for medically intractable TLE with hippocampal sclerosis. Since the family members felt extremely embarrassed, they were upset and angry with the patient which, in turn, increased her depressive symptoms. Both her excessive masturbation behavior and depressive symptoms remitted within 2 months of psychoeducative intervention and treatment with citalopram 20mg/day. Excessive masturbation is proposed to be related to the psychosocial changes due to seizure-free status after surgery as well as other possible mechanisms such as Kluver-Bucy syndrome features and neurophysiologic changes associated with the cessation of epileptic discharges. This case demonstrates that psychiatric problems and sexual changes encountered after epilepsy surgery are possibly multifactorial and in adolescence hypersexuality may be manifested as excessive masturbation behavior.

  6. Epilepsy as a neurodevelopmental disorder

    Directory of Open Access Journals (Sweden)

    Yuri eBozzi

    2012-03-01

    Full Text Available Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different aetiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signalling and defects in maturation and plasticity of neuronal networks. In this review, we will focus on alterations of brain development that lead to an hyperexcitability phenotype in adulthood, providing examples from both animal and human studies. Malformations of cortical development (including focal cortical dysplasia, lissencephaly, heterotopia, and polymicrogyria are frequently epileptogenic and result from defects in cell proliferation in the germinal zone and/or impaired neuronal migration and differentiation. Delayed or reduced arrival of inhibitory interneurons into the cortical plate is another possible cause of epileptogenesis. GABAergic neurons are generated during early development in the ganglionic eminences, and failure to pursue migration towards the cortex alters the excitatory/inhibitory balance resulting in aberrant network hyperexcitability. More subtle defects in the developmental assembly of excitatory and inhibitory synapses are also involved in epilepsy. For example, mutations in the presynaptic proteins synapsins and SNAP-25 cause derangements of synaptic transmission and plasticity which underlie appearance of an epileptic phenotype. Finally, there is evidence that defects in synapse elimination and remodelling during early critical periods can trigger hyperexcitability later in life. Further clarification of the developmental pathways to epilepsy has important implications for disease prevention and therapy.

  7. Reading-Induced Absence Seizures

    OpenAIRE

    J Gordon Millichap

    1995-01-01

    A 12-year-old girl with a 2-year history of absence seizures induced by reading and diagnosed by video EEG is reported from The University of Texas Southwestern Medical Center, Dallas, and Riyadh Armed Forces Hospital, Saudi Arabia.

  8. International Veterinary Epilepsy Task Force consensus report on epilepsy definition, classification and terminology in companion animals

    DEFF Research Database (Denmark)

    Berendt, Mette; Farquhar, Robyn G; Mandigers, Paul J J

    2015-01-01

    Dogs with epilepsy are among the commonest neurological patients in veterinary practice and therefore have historically attracted much attention with regard to definitions, clinical approach and management. A number of classification proposals for canine epilepsy have been published during...... the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human...... to the readers and influence the definition and diagnosis of epilepsy in first line practice and research studies.In this document the International Veterinary Epilepsy Task Force (IVETF) discusses current understanding of canine epilepsy and presents our 2015 proposal for terminology and classification...

  9. The most cited works in epilepsy: Trends in the "Citation Classics".

    Science.gov (United States)

    Ibrahim, George M; Snead, O Carter; Rutka, James T; Lozano, Andres M

    2012-05-01

    The number of times that a published article is cited is one indicator of its scientific impact. An article is termed a "Citation Classic" once it has accumulated more than 400 citations. Trends in these highly cited works allow projection of future directions of high-impact research within a field. Herein, we identified 89 articles in the field of epilepsy published in 35 different journals that have been cited more than 400 times (citation range 401-3,749). The journal that published the greatest number of Citation Classics was Epilepsia (9 articles with 656 mean citations per article). Laboratory studies constituted the fastest growing area of highly cited epilepsy research, whereas clinical studies showed a bimodal distribution in representation among Citation Classics. There were also considerably fewer epilepsy-specific Citation Classics compared to other disciplines. In this study, we find that the Citation Classics of epilepsy comprise a heterogeneous group of articles and that changes in the trends of these highly cited works represent the evolution of epilepsy research over time. The results of this study should inform the academic community and provide a guide of essential literature for scientists who are engaged in epilepsy research.

  10. What's at stake? Genetic information from the perspective of people with epilepsy and their family members.

    Science.gov (United States)

    Shostak, Sara; Zarhin, Dana; Ottman, Ruth

    2011-09-01

    Substantial progress has been made in identifying genes that raise risk for epilepsy, and genetic testing for some of these genes is increasingly being used in clinical practice. However, almost no empirical data are available from the perspective of people with epilepsy and their family members about the impact of genetic information and potential benefits and harms of genetic testing. To address this gap we conducted in-depth qualitative interviews with 40 individuals (22 with epilepsy, 18 unaffected) in the USA from families containing multiple affected individuals who had participated in epilepsy genetics research. The interviews were coded and analyzed using the principles of grounded theory. Several major themes emerged from these interviews. Participants expressed "personal theories of inheritance" that emphasized commonalities among relatives and the idea that disease risk is most shared by family members who share physical or personality traits. Most participants said they would have genetic testing if it were offered. They cited many potential benefits, including learning what caused epilepsy in their family, being better able to care and advocate for children at risk, reducing guilt and blame, providing an increased sense of control, and relieving anxiety in unaffected individuals who test negative. The influence of genetic information on reproduction was a particularly salient theme. Although respondents believed genetic testing would be useful for informing their reproductive choices, they also expressed fear that it could lead to external pressures to modify these choices. Other concerns about the potential negative impact of genetic information included increased blame and guilt, increased stigma and discrimination in employment and insurance, self-imposed limitations on life goals, and alterations in fundamental conceptions of "what epilepsy is." Consideration of the perspectives of people with epilepsy and their family members is critical to

  11. Abnormal Brain Areas Common to the Focal Epilepsies: Multivariate Pattern Analysis of fMRI.

    Science.gov (United States)

    Pedersen, Mangor; Curwood, Evan K; Vaughan, David N; Omidvarnia, Amir H; Jackson, Graeme D

    2016-04-01

    Individuals with focal epilepsy have heterogeneous sites of seizure origin. However, there may be brain regions that are common to most cases of intractable focal epilepsy. In this study, we aim to identify these using multivariate analysis of task-free functional MRI. Fourteen subjects with extratemporal focal epilepsy and 14 healthy controls were included in the study. Task-free functional MRI data were used to calculate voxel-wise regional connectivity with regional homogeneity (ReHo) and weighted degree centrality (DCw), in addition to regional activity using fraction of amplitude of low-frequency fluctuations (fALFF). Multivariate pattern analysis was applied to each of these metrics to discriminate brain areas that differed between focal epilepsy subjects and healthy controls. ReHo and DCw classified focal epilepsy subjects from healthy controls with high accuracy (89.3% and 75%, respectively). However, fALFF did not significantly classify patients from controls. Increased regional network activity in epilepsy subjects was seen in the ipsilateral piriform cortex, insula, and thalamus, in addition to the dorsal anterior cingulate cortex and lateral frontal cortices. Decreased regional connectivity was observed in the ventromedial prefrontal cortex, as well as lateral temporal cortices. Patients with extratemporal focal epilepsy have common areas of abnormality (ReHo and DCw measures), including the ipsilateral piriform cortex, temporal neocortex, and ventromedial prefrontal cortex. ReHo shows additional increase in the "salience network" that includes anterior insula and anterior cingulate cortex. DCw showed additional effects in the ipsilateral thalamus and striatum. These brain areas may represent key regional network properties underlying focal epilepsy.

  12. ATPergic signalling during seizures and epilepsy.

    Science.gov (United States)

    Engel, Tobias; Alves, Mariana; Sheedy, Caroline; Henshall, David C

    2016-05-01

    Much progress has been made over the last few decades in the identification of new anti-epileptic drugs (AEDs). However, 30% of epilepsy patients suffer poor seizure control. This underscores the need to identify alternative druggable neurotransmitter systems and drugs with novel mechanisms of action. An emerging concept is that seizure generation involves a complex interplay between neurons and glial cells at the tripartite synapse and neuroinflammation has been proposed as one of the main drivers of epileptogenesis. The ATP-gated purinergic receptor family is expressed throughout the brain and is functional on neurons and glial cells. ATP is released in high amounts into the extracellular space after increased neuronal activity and during chronic inflammation and cell death to act as a neuro- and gliotransmitter. Emerging work shows pharmacological targeting of ATP-gated purinergic P2 receptors can potently modulate seizure generation, inflammatory processes and seizure-induced brain damage. To date, work showing the functional contribution of P2 receptors has been mainly performed in animal models of acute seizures, in particular, by targeting the ionotropic P2X7 receptor subtype. Other ionotropic P2X and metabotropic P2Y receptor family members have also been implicated in pathological processes following seizures such as the P2X4 receptor and the P2Y12 receptor. However, during epilepsy, the characterization of P2 receptors was mostly restricted to the study of expressional changes of the different receptor subtypes. This review summarizes the work to date on ATP-mediated signalling during seizures and the functional impact of targeting the ATP-gated purinergic receptors on seizures and seizure-induced pathology. This article is part of the Special Issue entitled 'Purines in Neurodegeneration and Neuroregeneration'.

  13. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  14. Noninvasive treatment alternative for intractable startle epilepsy

    NARCIS (Netherlands)

    Klinkenberg, Sylvia; Ubbink, Sander; Vles, Johannes; de Louw, Anton; van Hall, Mariette Debeij; Scheijen, Dyon; Brokx, Jan

    2014-01-01

    We describe a treatment alternative for intractable, startle-provoked, epileptic seizures in four children aged between 8 and 14. Three of the four children had symptomatic localization-related epilepsy. They all suffered from intractable epilepsy precipitated by sudden sounds. The fact that seizure

  15. Monocarboxylate transporters in temporal lobe epilepsy

    DEFF Research Database (Denmark)

    Lauritzen, Fredrik; Eid, Tore; Bergersen, Linda H

    2013-01-01

    Epilepsy is a serious neurological disorder that affects approximately 1 % of the general population, making it one of the most common disorders of the central nervous system. Furthermore, up to 40 % of all patients with epilepsy cannot control their seizures with current medications. More...

  16. Living with Epilepsy--Not around It

    Science.gov (United States)

    Apel, Laura

    2008-01-01

    This article presents an interview on Kevin Eggers, a 19-year-old college student from Seattle, Washington, who was diagnosed with epilepsy but had not let it prevent him from accomplishing his goals. As an Epilepsy Advocate, Kevin helps other teens and young adults realize that having a disability does not mean not living a normal and fulfilling…

  17. Pragmatic Communication Deficits in Children with Epilepsy

    Science.gov (United States)

    Broeders, Mark; Geurts, Hilde; Jennekens-Schinkel, Aag

    2010-01-01

    Background: Various psychiatric and neurological disorders including epilepsy have been associated with language deficits. Pragmatic language deficits, however, have seldom been the focus of earlier studies in children with epilepsy. Moreover, it is unknown whether these pragmatic deficits are related to general intellectual functioning. Both…

  18. Epilepsy and Intellectual and Developmental Disabilities

    Science.gov (United States)

    Oguni, Hirokazu

    2013-01-01

    The co-occurrence of epilepsy in people with intellectual disabilities (ID) and other developmental disabilities (DD) has received attention because it has a significant negative impact on health, well-being, and quality of life. The current research investigating the frequency and form of epilepsy in children with ID and DD is reviewed, with…

  19. The representation of epilepsy in popular music.

    Science.gov (United States)

    Baxendale, Sallie

    2008-01-01

    Much can be learned about the contemporary stereotypes associated with epilepsy by studying the representation of the disorder in paintings, literature, and movies. Popular music is arguably the most accessible and ubiquitous of the creative art forms, touching most of us on a daily basis. Reviewed here are the ways in which epilepsy and seizures are used in the lyrics of musicians from a wide variety of musical genres, from hip-hop to rhythm and blues. Many of the ancient associations of epilepsy with madness, horror, and lunacy can be found in these lyrics. However, the language of epilepsy has also been appropriated by some musical artists to represent a state of sexual ecstasy and dance euphoria. The references to these states as "epilepsy" or a "seizure" in numerous songs suggest that this shorthand is widely recognized within some subcultures. Although epilepsy has frequently been associated with female sexual availability in other creative art forms, this novel use of the language of epilepsy represents a contemporary departure in the artistic application of epilepsy-related images and associations in the 21st century.

  20. Sleep Disorders in Children with Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-01-01

    Full Text Available Sleep and behavior disorders in 55 children with epilepsy (mean age 10 years; range 4-16 years were compared with those in their non-epileptic siblings of the same ages and sex ratio and correlated with epilepsy-specific factors, in a study at Alberta Children's Hospital, University of Calgary, Alberta, Canada.

  1. Effect of Seizure Clustering on Epilepsy Outcome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-05-01

    Full Text Available A prospective, long-term population-based study was performed to determine whether seizure clustering (3 or more afebrile seizures during a 24 hour period is associated with drug resistance and increased mortality in childhood-onset epilepsy, in a study at University of Turku, Finland, and the Epilepsy Research Group, Berlin, Germany.

  2. Isolated absence of right pulmonary artery

    Directory of Open Access Journals (Sweden)

    Singhi Anil

    2010-01-01

    Full Text Available Background : Absence of right pulmonary artery (RPA is a rare congenital abnormality with variable presentation. The diagnosis is often missed in infants Objective : The aim of this study was to describe infantile presentation of isolated absence of RPA along with a brief review of the literature. Methods : The details of five patients diagnosed with isolated absence of RPA from April 2007 to October 2009 were reviewed retrospectively Results : Five patients were identified with this anomaly. The median age of presentation was 86 days (range, 40-120 days and the median weight was 3.65 kg (range, 3.1-5.5 kg. All patients presented with breathing difficulty and had severe pulmonary hypertension (PHT along with absent RPA on echocardiography. A multidetector computed tomographic scan was performed to confirm the diagnosis in four cases. Three patients had major aortopulmonary collateral and the hilar RPA was not well developed in all. A correct diagnosis was made before referral in one patient only. Differential vascularity in chest X-ray, a useful clue, was seen in four of five cases. Surgical correction was not considered in view of the small hilar pulmonary artery. The patients were all managed medically with diuretics and Sildenafil. Conclusion : Isolated absence of RPA is a rare congenital abnormality with varied presentation. Infantile presentation is marked with congestive cardiac failure and PHT. Specific diagnostic clue includes differential vascularity on the chest X-ray.

  3. Prevalence of Epilepsy in Iran: A Meta-Analysis and Systematic Review

    Directory of Open Access Journals (Sweden)

    Kourosh SAYEHMIRI*

    2014-12-01

    Full Text Available How to Cite This Article: Sayemiri K, Tavan H, Sayemiri F, Mohammadi I, Carson KV. Prevalence of Epilepsy in Iran : A Meta-Analysis and Systematic Review. Iran J Child Neurol. 2014 Autumn; 8(4:9-17.AbstractObjectiveEpilepsy is one of the most common diseases in Iran contributing to an array of health problems. In light of this, the aim of the present study is to examine the prevalence of epilepsy in Iran through a systematic review and meta-analysis.Materials & MethodsA systematic search of several databases including PubMed, scientific information databases, Google, Google scholar, Elsevier and Scopus was conducted in June 2013. Observational studies were considered for inclusion ifthey were published in Iranian and examined epilepsy prevalence and/or related risk factors. Meta-analysis was conducted using a random effect model with the DerSimonian/Laird method. Heterogeneity was examined using the Breslow- Day test and inconsistency using the I2 statistic.ResultsA total of 45 studies were identified from the search strategy. Of these, nine published manuscripts with a total of 7,723 participants were included within the review. The pooled prevalence of epilepsy in Iran was estimated to be around 5% (95% confident interval (CI 2 to 8. For each region the prevalence of epilepsy in central, northern and eastern Iran were 5% (95%CI 2 to 8, 1% (95%CI -1 to 3 and 4% (95%CI 3 to 11 respectively. The most common risk factors in order of prevalence were somatic diseases 39% (95%CI 15 to 62,convulsion 38% (95%CI 11 to 65, mental diseases 36% (95%CI 15 to 95 and hereditary development 26% (95%CI 9 to 42. A meta-regression model identified a declining trend in the prevalence of epilepsy within Iran for the last decade.ConclusionPooled analyses from the nine included publications in this review estimate the prevalence of epilepsy in Iran to be around 5%. Although this result is much higher than rates in other countries, a declining trend

  4. Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.

    Science.gov (United States)

    Jacob, John

    2016-02-01

    Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrate substantial heritability. In this review, cross-disciplinary data in a rapidly evolving field that bridges neurology and psychiatry are synthesized to identify shared biologic mechanisms. The relationship between these debilitating, lifelong conditions is examined at the clinical, genetic, and neurophysiologic levels in humans and in animal models. Scopus and PubMed searches were used to identify relevant literature. Clinical observations have prompted speculation about the interdependence of autism and epilepsy, but causal relationships have proved difficult to determine. Despite their heritability, the genetic basis of autism spectrum disorder (ASD) and epilepsy has remained largely elusive until the advent of next-generation sequencing. This approach has revealed that mutations that are either causal or confer an increased disease risk are found in numerous different genes, any one of which accounts for only a small percentage of cases. Conversely, even cases with identical clinical phenotypes can be genetically heterogeneous. Candidate gene identification has facilitated the development of mouse genetic models, which in parallel with human studies have implicated shared brain regions and circuits that mediate disease expression. Diverse genetic causes of ASD and epilepsy converge on cortical interneuron circuits as one important mediator of both disorders. Cortical interneurons are among the most diverse cell types in the brain and their unique chemical and electrical coupling exert a powerful inhibitory influence on excitatory neurons via the release of the neurotransmitter, γ-aminobutyric acid (GABA). These multifaceted approaches have validated theories derived from the field of developmental neurobiology, which propose that the neurologic and neuropsychiatric manifestations are caused by an altered ratio of excitation to

  5. Social competence of preschool children with epilepsy.

    Science.gov (United States)

    Rantanen, K; Timonen, S; Hagström, K; Hämäläinen, P; Eriksson, K; Nieminen, P

    2009-02-01

    The aims of this study were to describe the social competence of 3- to 6-year-old children with epilepsy (n=26) compared with that of age- and gender-matched healthy controls (n=26). Social competence was assessed with the Vineland Social Maturity Scale, Conners' Parent Rating Scales-Revised, and the Child Behavior Checklist. The results indicate that the children with epilepsy, especially with complicated epilepsy, had fewer age-appropriate social skills and more attention and behavior problems than the healthy children, as reported by parents. It is possible that the lack of age-appropriate social skills and the presence of attention problems predispose to behavioral problems. Also, epilepsy-related factors impaired the achievement of social competence. This study shows that the preschool children with complicated, early-onset epilepsy are at increased risk of difficulties in social competence.

  6. Epilepsy during pregnancy: focus on management strategies

    Science.gov (United States)

    Borgelt, Laura M; Hart, Felecia M; Bainbridge, Jacquelyn L

    2016-01-01

    In the US, more than one million women with epilepsy are of childbearing age and have over 20,000 babies each year. Patients with epilepsy who become pregnant are at risk of complications, including changes in seizure frequency, maternal morbidity and mortality, and congenital anomalies due to antiepileptic drug exposure. Appropriate management of epilepsy during pregnancy may involve frequent monitoring of antiepileptic drug serum concentrations, potential preconception switching of antiepileptic medications, making dose adjustments, minimizing peak drug concentration with more frequent dosing, and avoiding potentially teratogenic medications. Ideally, preconception planning will be done to minimize risks to both the mother and fetus during pregnancy. It is important to recognize benefits and risks of current and emerging therapies, especially with revised pregnancy labeling in prescription drug product information. This review will outline risks for epilepsy during pregnancy, review various recommendations from leading organizations, and provide an evidence-based approach for managing patients with epilepsy before, during, and after pregnancy. PMID:27703396

  7. Maternal Mortality in Women with Epilepsy

    LENUS (Irish Health Repository)

    Holohan, M

    2016-10-01

    It is estimated that, in Ireland, there are 10,000 women with epilepsy of childbearing potential1. In this paper the maternal mortality rate for women with epilepsy attending the Rotunda Hospital Epilepsy Clinic 2004 - 2013 was determined. There were 3 maternal deaths in women with epilepsy during this time, which represents a mortality rate of 0.8%. In those women who died, there were concerns in relation to risks to the foetus by taking Anti-Epileptic Drugs (AED) and also issues with access to neurology services before pregnancy, acceptance of specialist support and lack of consistency in advice from health care professionals outside of Ireland. Implementing the nationally agreed care plan for women with epilepsy will improve the quality of care given and potentially we will see a reduction in maternal mortality in these women.

  8. Obtaining genetic testing in pediatric epilepsy.

    Science.gov (United States)

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.

  9. Cognitive development and pediatric epilepsy surgery

    Directory of Open Access Journals (Sweden)

    Santhosh George Thomas

    2008-01-01

    Full Text Available Children with intractable epilepsy are at considerable risk for cognitive impairment, school failure, behaviour and mental health problems and overall compromised quality of life. It influences the development of cognitive functions during the period of brain plasticity. Fifty percent of patients with intractable epilepsy have surgically remediable epilepsy syndromes. Epilepsy surgery can lead to seizure freedom following which development of functions in the residual brain occur which leads to cognitive improvement. Social aspects, side effects of antiepileptics, seizure perception and the overall level of quality of life are found to improve after surgery. The nature of the underlying brain disorder giving rise to the seizures appears to affect outcome. Follow up period is essential to determine effects of cognition after epilepsy surgery. It should be long enough for reconfiguration of the individual, family functioning and for restitution at the level of brain plasticity to occur.

  10. Danish experience with paediatric epilepsy surgery

    DEFF Research Database (Denmark)

    Underbjerg, Ebba von Celsing; Hoei-Hansen, Christina E; Madsen, Flemming Find;

    2015-01-01

    INTRODUCTION: Epilepsy surgery is increasingly used to treat children with medically intractable epilepsy. This study investigates the aetiology and seizure outcome in Danish children operated between 1996 and 2010. METHODS: Retrospectively collected data on structural magnetic resonance imaging...... (MRI) diagnoses, surgical procedures and seizure outcomes classified according to the Engel Classification were used. Changes over time grouped as 1996-2000, 2001-2005 and 2006-2010 were analysed. RESULTS: A total of 95 children underwent epilepsy surgery. Sixty-three operations were performed...... of children who undergo epilepsy surgery have a good, worthwhile seizure outcome. The seizure outcome for Danish children corresponds to that of other epilepsy surgery centres. The clinical criteria for selection of patients changed over time. FUNDING: none. TRIAL REGISTRATION: The Danish Data Protection...

  11. Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

    OpenAIRE

    2010-01-01

    PUBLISHED Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls. Large deletions (> 100 kb) at 16p13.11 were observed in 23 patients, whereas no c...

  12. Frequency, Prognosis and Surgical Treatment of Structural Abnormalities Seen with Magnetic Resonance Imaging in Childhood Epilepsy

    Science.gov (United States)

    Berg, Anne T.; Mathern, Gary W.; Bronen, Richard A.; Fulbright, Robert K.; DiMario, Francis; Testa, Francine M.; Levy, Susan R.

    2009-01-01

    The epidemiology of lesions identified by magnetic resonance imaging (MRI), along with the use of pre-surgical evaluations and surgery in childhood-onset epilepsy patients has not previously been described. In a prospectively identified community-based cohort of children enrolled from 1993 to 1997, we examined (i) the frequency of lesions…

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

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2015-01-01

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

  14. Management of Epilepsy and Pregnancy

    Directory of Open Access Journals (Sweden)

    Thomas Sanjeev

    2006-01-01

    Full Text Available Epilepsy is recognized as the commonest serious neurological disorder in the world. Women with epilepsy (WWE experience several gender-related physical and social problems. They constitute high obstetric risk because of reduced fertility, risk of seizures during pregnancy, and complications of pregnancy. Hormonal and other factors can alter the pharmacokinetics of antiepileptic drugs (AED during pregnancy and puerperium. Antenatal exposure to AEDs, particularly at higher dosage and in polytherapy, increases the risk of fetal malformation. Recent reports raise the possibility of selective developmental language deficits and neurocognitive deficits with antenatal exposure to AEDs. There are concerns regarding the effect of traces of AEDs that pass to the infant during breast-feeding. The pre conception management is the cornerstone for epilepsy care in WWE. A careful reappraisal of each case should ascertain the diagnosis, the need for continued AED therapy, selection of appropriate AEDs, optimization of the dosage, and prescription of folic acid. During pregnancy, the fetal status needs to be monitored with estimation of serum a-feto-protein and ultrasound screening for malformations. The dosage of AEDs can be adjusted according to clinical requirement and blood levels of AEDs. Several institutions recommend oral vitamin K toward the end of pregnancy when enzyme-inducing AEDs are prescribed because the latter may potentially predispose the new born to hemorrhagic disease, but recent reports indicate that such a risk is practically negligible. WWE who are using enzyme-inducing AEDs (phenobarbitone, primidone, phenytoin, carbamazepine, and oxcarbazepine need to know that these AEDs may lead to failure of oral contraception.

  15. Mitochondrial myopathy and myoclonic epilepsy

    Directory of Open Access Journals (Sweden)

    Walter O. Arruda

    1990-03-01

    Full Text Available The authors describe a family (mother, son and two daughters with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.

  16. A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy.

    Science.gov (United States)

    Kverneland, Magnhild; Selmer, Kaja K; Nakken, Karl O; Iversen, Per O; Taubøll, Erik

    2015-12-01

    For children with pharmacoresistant epilepsy, the ketogenic diet is an established treatment option worldwide. However, for adults, this treatment is less frequently offered, and its efficacy less well-documented. The aim of this study was to examine efficacy and tolerability of such a diet as an adjuvant therapy to antiepileptic drugs for adult patients with pharmacoresistant generalized epilepsy. Thirteen patients (12 women) aged 16-57 years were included prospectively. They were treated with a modified Atkins diet for 12 weeks. Nine of the 13 participants had juvenile myoclonic epilepsy (JME), two had childhood absence epilepsy, one had Jeavons syndrome, and one had generalized epilepsy of unknown type. Six participants, all with JME, completed the 12-week study period. Among these six, four had >50% seizure reduction. Their seizure severity, using the revised Liverpool Seizure Severity Scale, was reduced by 1, 5, 57.5, and 70 points, respectively (scale: 1-100 points). In three of these four responders, quality of life, assessed by QOLIE-89, increased more than 20 points (scale: 0-100 points). Mean reduction of body weight after 12 weeks on diet was 6.5 (range: 4.3-8.1) kg. Lack of motivation, poor compliance, and seizure aggravation were the main reasons for premature termination of the diet. Apart from one patient who developed gallstones when ending the treatment after 10 months, no adverse effects were noted. In conclusion, using a modified Atkins diet for 12 weeks led to a clinically relevant reduction of seizure frequency in four of thirteen adult patients with pharmacoresistant generalized epilepsy. All responders were diagnosed with JME. In three of the four, the benefits of diet were so considerable that they chose to continue the treatment.

  17. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

    Science.gov (United States)

    Prats Viñas, Jose Maria; Martinez Gonzalez, María Jesús; Garcia Ribes, Ainhoa; Martinez Gonzalez, Sonia; Martinez Fernandez, Ricardo

    2005-06-01

    Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

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

    Directory of Open Access Journals (Sweden)

    Sanjib Sinha

    2013-01-01

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

  19. Epilepsy and risk of suicide: a population-based case-control study

    DEFF Research Database (Denmark)

    Christensen, Jakob; Vestergaard, Mogens; Mortensen, Preben Bo;

    2007-01-01

    BACKGROUND: Studies have linked epilepsy with an increased suicide risk, but the association might be modified by psychiatric, demographic, and socioeconomic factors. METHODS: Suicide cases were identified in the Cause of Death Register in Denmark from 1981 to 1997. Up to 20 controls, matched...... by sex, birth year, and calendar date, were assigned to each suicide case. FINDINGS: We identified 21 169 cases of suicide and 423 128 controls. 492 (2.32%) individuals who committed suicide had epilepsy compared with 3140 (0.74%) controls, corresponding to a three times higher risk (rate ratio [RR] 3.......17 [95% CI 2.88-3.50]; pepilepsy and comorbid psychiatric disease, even after...

  20. NREM parasomnias: arousal disorders and differentiation from nocturnal frontal lobe epilepsy.

    Science.gov (United States)

    Zucconi, M; Ferini-Strambi, L

    2000-09-01

    Parasomnias emerging from NREM sleep such as sleep walking, sleep terrors and confusional arousals are considered arousal disorders. Nocturnal video-polysomnography is the gold standard to diagnosing and differentiating parasomnias from other arousals with atypical motor behaviors such as nocturnal frontal lobe epilepsy (NFLE). This form of nocturnal seizures with prominent dystonic-dyskinetic components, in some cases genetic, has been recently identified by means of detailed video-analysis of movements during sleep. The clinical picture of parasomnias (with onset in early childhood, rare episodes of long duration, absence of stereotypy, general disappearance after puberty) is different from that of NFLE (which first occurs between the age of 10 and 20, manifests frequent complex and repetitive behaviors of short duration excluding rare prolonged seizures, nocturnal agitation, some daytime complaints such as fatigue or sleepiness, persistence into adulthood). Patients show no difference from classical sleep parameters whilst microstructure analysis shows sleep instability and arousal fluctuations in parasomnias and NFLE. In children as well, at least in our experience, the differential diagnosis between the two disorders is difficult and requires one or more complete nocturnal video-polygraphic recording. In any case the diagnosis of NFLE should be considered in children with nocturnal motor episodes or nocturnal motor agitation, when the attacks persist; this diagnosis is probably more frequent than expected.

  1. Neuropsychological profile in patients with temporal lobe epilepsy

    OpenAIRE

    Marques, Daniela; Ferreira, Naide; Horácio, Góis; Reis, Alexandra; Jacinto, Gonçalo

    2013-01-01

    The temporal lobe epilepsy (TLE) is the most common type of refractory epilepsy in adults. There is a wide consensus regarding the commitment of memory in temporal lobe epilepsy with hippocampal sclerosis. However, the consensus is not as widespread with respect to the other functions such as attention, executive functions, language and intellectual performance. For this study we analyzed retrospectively a group of 76 patients with refractory epilepsy, 48 patients with temporal lobe epilepsy ...

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

    Science.gov (United States)

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

    2015-11-01

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

  3. EEG source imaging in epilepsy--practicalities and pitfalls.

    Science.gov (United States)

    Kaiboriboon, Kitti; Lüders, Hans O; Hamaneh, Mehdi; Turnbull, John; Lhatoo, Samden D

    2012-09-01

    EEG source imaging (ESI) is a model-based imaging technique that integrates temporal and spatial components of EEG to identify the generating source of electrical potentials recorded on the scalp. Recent advances in computer technologies have made the analysis of ESI data less time-consuming, and have rekindled interest in this technique as a clinical diagnostic tool. On the basis of the available body of evidence, ESI seems to be a promising tool for epilepsy evaluation; however, the precise clinical value of ESI in presurgical evaluation of epilepsy and in localization of eloquent cortex remains to be investigated. In this Review, we describe two fundamental issues in ESI; namely, the forward and inverse problems, and their solutions. The clinical application of ESI in surgical planning for patients with medically refractory focal epilepsy, and its use in source reconstruction together with invasive recordings, is also discussed. As ESI can be used to map evoked responses, we discuss the clinical utility of this technique in cortical mapping-an essential process when planning resective surgery for brain regions that are in close proximity to eloquent cortex.

  4. Brain imaging in the assessment for epilepsy surgery.

    Science.gov (United States)

    Duncan, John S; Winston, Gavin P; Koepp, Matthias J; Ourselin, Sebastien

    2016-04-01

    Brain imaging has a crucial role in the presurgical assessment of patients with epilepsy. Structural imaging reveals most cerebral lesions underlying focal epilepsy. Advances in MRI acquisitions including diffusion-weighted imaging, post-acquisition image processing techniques, and quantification of imaging data are increasing the accuracy of lesion detection. Functional MRI can be used to identify areas of the cortex that are essential for language, motor function, and memory, and tractography can reveal white matter tracts that are vital for these functions, thus reducing the risk of epilepsy surgery causing new morbidities. PET, SPECT, simultaneous EEG and functional MRI, and electrical and magnetic source imaging can be used to infer the localisation of epileptic foci and assist in the design of intracranial EEG recording strategies. Progress in semi-automated methods to register imaging data into a common space is enabling the creation of multimodal three-dimensional patient-specific datasets. These techniques show promise for the demonstration of the complex relations between normal and abnormal structural and functional data and could be used to direct precise intracranial navigation and surgery for individual patients.

  5. Emotion recognition in temporal lobe epilepsy: A systematic review.

    Science.gov (United States)

    Monti, Giulia; Meletti, Stefano

    2015-08-01

    There is increasing interest in the understanding of emotion recognition deficits in temporal lobe epilepsy (TLE), the most common form of focal epilepsies. There are conflicting reports about impairments for different emotions in right and left temporal lobe epilepsy patients. A systematic review and a narrative synthesis was conducted for studies investigating emotion recognition (ER) in TLE. Embase, MEDLINE, PsychINFO and Pubmed were searched from 1990 to March 2015 and reference lists were reviewed. 996 citations were identified and 43 studies were finally included. ER deficits are consistently observed across studies. A fear recognition deficit is always reported, followed by deficits in sadness and disgust recognition. Deficits are observed across visual and auditory domains. Conflicting evidence is present concerning the severity of ER deficits in right and left TLE. Studies on anterior temporal lobectomy report data similar to that observed in pre-surgical patients. Current evidence supports the conclusion that recognition of negative emotions is commonly impaired in TLE, particularly for fear, and in the visual domain. Future work should focus on more ecologically valid test, on longitudinal studies to assess the role of anterior temporal lobectomy, and to correlate ER measures to social functioning in everyday life.

  6. Memory Rehabilitation Strategies in Nonsurgical Temporal Lobe Epilepsy: A Review.

    Science.gov (United States)

    Del Felice, Alessandra; Alderighi, Marzia; Martinato, Matteo; Grisafi, Davide; Bosco, Anna; Thompson, Pamela J; Sander, Josemir W; Masiero, Stefano

    2017-02-15

    People with temporal lobe epilepsy (TLE) who have not undergone epilepsy surgery often complain of memory deficits. Cognitive rehabilitation is employed as a remedial intervention in clinical settings, but research is limited and findings concerning efficacy and the criteria for choosing different approaches have been inconsistent. We aimed to appraise existing evidence on memory rehabilitation in nonsurgical individuals with temporal lobe epilepsy and to ascertain the effectiveness of specific strategies. A scoping review was preferred given the heterogeneous nature of the interventions. A comprehensive literature search using MEDLINE, EMBASE, CINAHL, AMED, Scholars Portal/PSYCHinfo, Proceedings First, and ProQuest Dissertations and Theses identified articles published in English before February 2016. The search retrieved 372 abstracts. Of 25 eligible studies, six were included in the final review. None included pediatric populations. Strategies included cognitive training, external memory aids, brain training, and noninvasive brain stimulation. Selection criteria tended to be general. Overall, there was insufficient evidence to make definitive conclusions regarding the efficacy of traditional memory rehabilitation strategies, brain training, and noninvasive brain stimulation. The review suggests that cognitive rehabilitation in nonsurgical TLE is underresearched and that there is a need for a systematic evaluation in this population.

  7. Impact of epilepsy on children and parents in Gabon.

    Science.gov (United States)

    Ibinga, Euloge; Ngoungou, Edgard Brice; Olliac, Bertrand; Hounsossou, Cocou Hubert; Dalmay, François; Mouangue, Gertrude; Ategbo, Simon Jonas; Preux, Pierre-Marie; Druet-Cabanac, Michel

    2015-03-01

    Children with epilepsy and their parents face many social and psychological difficulties that remain insufficiently studied in sub-Saharan Africa. The aim here was to assess the quality of life of children with epilepsy and their parents. A community-based cross-sectional survey was conducted in two urban areas and four rural areas of Gabon. Children were screened through key informants, medical sources, and a door-to-door survey. They were clinically selected based on their medical history and a clinical exam conducted by the investigating physician. Electroencephalography had not been carried out because of a lack of material and financial resources. The quality of life of children and their parents was assessed by a structured interview of parents using a questionnaire. Of 317 suspected cases on screening, 83 children with epilepsy were identified. Their mean age was 11.9±4.4years. Twelve percent of the children had neurosensory abnormalities on clinical exam. Sixty-three percent of them attended school; factors associated with schooling were higher score on the sociability subscale, specialized medical advice, and antiepileptic drug treatment. Sociability difficulties, anxiety, cognitive impairment, and behavioral disorders were suspected in 39.8%, 45.8%, 49.4%, and 42.2% of children, respectively. A total of 48.2% of parents expressed a poor quality of life related to their children's illness. A higher score on the cognition subscale, urban residence, specialized medical advice, and a stable income in the household were predictive of poor parental quality of life. Epilepsy influences many aspects of a child's life and the life of the child's parents. Care should incorporate a cognitive assessment of the child and emphasize information for patients and their relatives.

  8. Psychological distress among patients with epilepsy

    Directory of Open Access Journals (Sweden)

    Asma Khalid

    2011-01-01

    Full Text Available Background: Epilepsy is a disorder of the brain characterized by recurrent seizures which are physical reactions to sudden, usually brief, too much electrical discharges in a group of brain cells. Psychological distress often accompanies epilepsy. It badly affects the disease and the treatment outcome. Whereas, familial social support is a positive factor. The objective of the present study was to see the difference of Psychological distress among the patients of Epilepsy; the comparisons on the variables of the study were made between gender, age, marital status, education, socio-economic status and type of Epilepsy. Materials and Methods: Sample comprised of 50 patients with epilepsy. These participants were divided into three subgroups according to their ages that are children, adolescence and adults. Patients were taken from hospitals Islamabad and Muzaffarabad (AJK. Results: The result showed that psychological distress is higher among male patients with generalized epilepsy and among those who are un-married, un-educated, having low socioeconomic status and lower familial social support. Conclusion: It can be concluded that psychological distress is common co morbidity in patients with epilepsy. During treatment, Counseling to the patients and the family can better help in coping with distress during their illness.

  9. Anxiety and Depression in Adolescents With Epilepsy.

    Science.gov (United States)

    Kwong, Karen Ling; Lam, David; Tsui, Sarah; Ngan, Mary; Tsang, Brian; Lai, Tai Sum; Lam, Siu Man

    2016-02-01

    The present study examined anxiety and depression in adolescents with epilepsy and the association of these disorders with seizure-related and sociodemographic variables. The Hospital Anxiety and Depression Scale was administered to 140 children with epilepsy and 50 children with asthma aged 10 to 18 years attending mainstream schools. Adolescents with epilepsy had significantly higher scores on the depression subscale than those with asthma (5.2 ± 3.3 vs 4.2 ± 3.2, P = .032). Anxiety subscale scores and the frequency of anxiety and depression in both the epilepsy and asthma groups were not statistically significant. In the epilepsy group, 32.8% had anxiety and 22.1% had depression. Factors associated with anxiety were older age at the time of the study and polytherapy (2 or more antiepileptic drugs). Adolescents who had been seizure-free for 12 months or more at time of the study were less likely to experience anxiety. Factors associated with depression were medical comorbidities, female gender, frequent seizures, and younger age of seizure onset. A common risk factor for both anxiety and depression was the duration of epilepsy. Anxiety and depression were also highly associated with each other. Affective disorders are common in epilepsy and screening for psychiatric symptoms is required.

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

    LENUS (Irish Health Repository)

    Varley, J

    2011-11-17

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

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

    LENUS (Irish Health Repository)

    Varley, J

    2012-02-01

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

  12. FTO, RNA epigenetics and epilepsy.

    Science.gov (United States)

    Rowles, Joie; Wong, Morgan; Powers, Ryan; Olsen, Mark

    2012-10-01

    Several recent landmark papers describing N(6) -methyladenosine (m(6) A) RNA modifications have provided valuable new insights as to the importance of m(6) A in the RNA transcriptome and in furthering the understanding of RNA epigenetics. One endogenous enzyme responsible for demethylating RNA m(6) A, FTO, is highly expressed in the CNS and is likely involved in mRNA metabolism, splicing or other nuclear RNA processing events. microRNAs (miRNAs), a family of small, non-coding transcripts that bind to target mRNAs and inhibit subsequent translation, are highly expressed in the CNS and are associated with several neurological disorders, including epilepsy. miRNAs frequently bind to recognition sequences in the 3'UTR, a region that is also enriched for m(6) A. Certain specific miRNAs are upregulated by neuronal activity and are coupled to epileptogenesis; these miRNAs contain a consensus m(6) A site that if methylated could possibly regulate miRNA processing or function. This commentary highlights aspects from recent papers to propose a functional association between FTO, RNA epigenetics and epilepsy.

  13. Development and validation of a case definition for epilepsy for use with administrative health data.

    Science.gov (United States)

    Reid, Aylin Y; St Germaine-Smith, Christine; Liu, Mingfu; Sadiq, Shahnaz; Quan, Hude; Wiebe, Samuel; Faris, Peter; Dean, Stafford; Jetté, Nathalie

    2012-12-01

    The objective of this study was to develop and validate coding algorithms for epilepsy using ICD-coded inpatient claims, physician claims, and emergency room (ER) visits. 720/2049 charts from 2003 and 1533/3252 charts from 2006 were randomly selected for review from 13 neurologists' practices as the "gold standard" for diagnosis. Epilepsy status in each chart was determined by 2 trained physicians. The optimal algorithm to identify epilepsy cases was developed by linking the reviewed charts with three administrative databases (ICD 9 and 10 data from 2000 to 2008) including hospital discharges, ER visits and physician claims in a Canadian health region. Accepting chart review data as the gold standard, we calculated sensitivity, specificity, positive, and negative predictive value for each ICD-9 and ICD-10 administrative data algorithm (case definitions). Of 18 algorithms assessed, the most accurate algorithm to identify epilepsy cases was "2 physician claims or 1 hospitalization in 2 years coded" (ICD-9 345 or G40/G41) and the most sensitive algorithm was "1 physician clam or 1 hospitalization or 1 ER visit in 2 years." Accurate and sensitive case definitions are available for research requiring the identification of epilepsy cases in administrative health data.

  14. Rub epilepsy: a somatosensory evoked reflex epilepsy induced by prolonged cutaneous stimulation

    OpenAIRE

    2001-01-01

    TO DELINEATE RUB EPILEPSY—a type of reflex epilepsy induced by prolonged or repetitive cutaneous stimulation in a circumscribed area of the body—three cases are presented, as well as one of tooth brushing epilepsy for comparison. In all three cases of rub epilepsy, cutaneous stimuli in a particular body area on the left side initially induced a sensory jacksonian march in the middle of, or in close vicinity to, the trigger zone, which led to subsequent unilateral tonic contr...

  15. Lacosamide: A Review in Focal Seizures in Patients with Epilepsy.

    Science.gov (United States)

    Scott, Lesley J

    2015-12-01

    Lacosamide (Vimpat(®)) is a functionalized amino acid available orally (as a solution or tablets) and as an intravenous infusion for use as monotherapy (only in the USA) or adjunctive therapy for the treatment of focal seizures in adult and adolescent (aged ≥17 years in the USA) patients with epilepsy. As adjunctive therapy to other antiepileptic drugs (AEDs), lacosamide provided effective seizure control and was generally well tolerated in adults and adolescents (aged ≥16 years) in randomized clinical trials and in the real-world setting. In clinical trials, adjunctive lacosamide provided significantly greater reductions in 28-day seizure rates than adjunctive placebo, with these benefits maintained after up to 8 years of therapy in open-label extension studies. Moreover, patients were effectively switched from oral to short-term intravenous adjunctive therapy at the same dosage, which may be particularly beneficial in situations where oral therapy is not suitable. Conversion to lacosamide monotherapy was superior to a historical-control cohort in patients with focal seizures converting from previous AED therapy. In the absence of head-to-head comparisons with other AEDs, the exact position of lacosamide relative to other AEDs remains to be fully determined. In the meantime, oral and intravenous lacosamide provides a useful option as monotherapy (only in the USA) or adjunctive therapy for the treatment of focal seizures in adult and adolescent (aged ≥17 years in the USA) patients with epilepsy.

  16. Automated EEG monitoring in defining a chronic epilepsy model.

    Science.gov (United States)

    Mascott, C R; Gotman, J; Beaudet, A

    1994-01-01

    There has been a recent surge of interest in chronic animal models of epilepsy. Proper assessment of these models requires documentation of spontaneous seizures by EEG, observation, or both in each individual animal to confirm the presumed epileptic condition. We used the same automatic seizure detection system as that currently used for patients in our institution and many others. Electrodes were implanted in 43 rats before intraamygdalar administration of kainic acid (KA). Animals were monitored intermittently for 3 months. Nine of the rats were protected by anticonvulsants [pentobarbital (PB) and diazepam (DZP)] at the time of KA injection. Between 1 and 3 months after KA injection, spontaneous seizures were detected in 20 of the 34 unprotected animals (59%). Surprisingly, spontaneous seizures were also detected during the same period in 2 of the 9 protected animals that were intended to serve as nonepileptic controls. Although the absence of confirmed spontaneous seizures in the remaining animals cannot exclude their occurrence, it indicates that, if present, they are at least rare. On the other hand, definitive proof of epilepsy is invaluable in the attempt to interpret pathologic data from experimental brains.

  17. The Effect of Ciprofloxacin Injection on Genetically Absence Prone (WAG/Rij Rats Electroencephalogram Characteristics

    Directory of Open Access Journals (Sweden)

    Ali Moghimi

    2013-01-01

    Full Text Available   Introduction: Ciprofloxacin which was used in this study is a Fluoroquinolone (FQ. This kind of drug may cause epileptic seizures probably because of the inhibition of GABA binding to its receptors. Wag/Rij rats (an animal model for generalized absence epilepsy, were used as experimental subjects.   Methods: For EEG study, electrodes were inserted into the cortex of animals according to paxinos coordinates. After and before ciprofloxacin injection, EEG was recorded and their SWDs were compared with each others.   Results: Findings showed a significant increase in the mean number of seizures during recording period. But the mean number of SWDs during seizures did not show any significant differences between groups.   Conclusion: These results may be due to involvement of GABA antagonistic effects of FQs and/or Mg2+ linked blockade of NMDA receptors. More researches are going to determine physiopathology of SWDs and find new effective substance against this kind of epilepsy.

  18. Ictal epileptic headache revealing non convulsive status epilepticus in a case of eyelid myoclonia with absences.

    Science.gov (United States)

    Fanella, Martina; Morano, Alessandra; Fattouch, Jinane; Albini, Mariarita; Casciato, Sara; Manfredi, Mario; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2015-01-01

    Epileptic seizures and headache attacks are two common neurologic phenomena characterized by paroxysmal alteration of brain functions followed by complete restauration of the baseline condition. Headache and epilepsy are related in numerous ways, and they often co-occur. Although the link between these two diseases is not completely clear, several clinical, physiopathological and therapeutic features overlap. Headache is reported in association with epileptic seizures as a pre-ictal, ictal or post-ictal phenomenon. We present the case of a 40 year-old woman affected by eyelid myoclonia with absences (EMA) with a history of prolonged headache attacks. A video-EEG recording performed during one of these episodes showed subcontinuous epileptic activity consisting of generalized spike-and-wave discharges (GSWDs), clinically associated with tensive headache. Our work represents one of the few well EEG-documented cases of ictal epileptic headache in idiopathic generalized epilepsy (IGE).

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

    Science.gov (United States)

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

    2013-10-01

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

  20. International veterinary epilepsy task force consensus report on epilepsy definition, classification and terminology in companion animals.

    Science.gov (United States)

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

    2015-08-28

    Dogs with epilepsy are among the commonest neurological patients in veterinary practice and therefore have historically attracted much attention with regard to definitions, clinical approach and management. A number of classification proposals for canine epilepsy have been published during the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human neurologists and neuroscientists, practitioners, neuropharmacologists and neuropathologists. This has led to an unfortunate situation where different veterinary publications and textbook chapters on epilepsy merely reflect individual author preferences with respect to terminology, which can be confusing to the readers and influence the definition and diagnosis of epilepsy in first line practice and research studies.In this document the International Veterinary Epilepsy Task Force (IVETF) discusses current understanding of canine epilepsy and presents our 2015 proposal for terminology and classification of epilepsy and epileptic seizures. We propose a classification system which reflects new thoughts from the human ILAE but also roots in former well accepted terminology. We think that this classification system can be used by all stakeholders.