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Sample records for absence epilepsy identifies

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

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

    2014-01-01

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

  2. Absence Epilepsy and Moyamoya Disease

    J Gordon Millichap

    2006-01-01

    The case of a 6-year-old girl with typical absence epilepsy associated with moyamoya disease (MMD) is reported from the Department of Neurosurgery, Kyoto University Graduate School of Medicine, Japan.

  3. Automatic characterization of dynamics in Absence Epilepsy

    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...

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

    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.

  5. Interhemispheric Functional Connectivity in Childhood Absence Epilepsy

    J Gordon Millichap

    2011-01-01

    Using a blood oxygen level-dependent resting functional connectivity approach to analyze EEG-fMRI data, the properties of bihemispheric brain networks in 16 patients with childhood absence epilepsy (CAE) were investigated during the interictal period, in a study at Yale University School of Medicine, New Haven, CT.

  6. Comparative proteomic approach in rat model of absence epilepsy.

    Gürol, Gönül; Demiralp, Duygu Özel; Yılmaz, Ayça Kasapoğlu; Akman, Özlem; Ateş, Nurbay; Karson, Ayşe

    2015-01-01

    The aim of this study was to investigate cellular proteins in the pathogenesis of the genetic rat model of absence epilepsy. Protein spots were identified with peptide mass fingerprinting analysis using matrix-assisted laser desorption ionization time of flight mass spectrometry. Data were gathered from the frontoparietal cortex and thalamus of Wistar Albino Glaxo/Rij (WAG/Rij) and Wistar by using two-dimensional gel electrophoresis (2D-PAGE). Six proteins (Clathrin light chain-A protein, Tra...

  7. Comparative proteomic approach in rat model of absence epilepsy.

    Gürol, Gönül; Demiralp, Duygu Özel; Yılmaz, Ayça Kasapoğlu; Akman, Özlem; Ateş, Nurbay; Karson, Ayşe

    2015-03-01

    The aim of this study was to investigate cellular proteins in the pathogenesis of the genetic rat model of absence epilepsy. Protein spots were identified with peptide mass fingerprinting analysis using matrix-assisted laser desorption ionization time of flight mass spectrometry. Data were gathered from the frontoparietal cortex and thalamus of Wistar Albino Glaxo/Rij (WAG/Rij) and Wistar by using two-dimensional gel electrophoresis (2D-PAGE). Six proteins (Clathrin light chain-A protein, Transmembrane EMP24 Domain-Containing Protein, Stathmin-4, Myosin Light Chain4, Rheb, phosphoserine phosphatase) were found to be differentially expressed in the frontoparietal cortex of WAG/Rij and Wistar rats in both age groups. Another set of six proteins (Protein FAM89A and Oasl1, Gemin2, NuDEL1, Pur-beta, 3-alpha HSD) were found to be differentially expressed in the thalamus of WAG/Rij and Wistar rats. Findings from the frontoparietal cortex suggest the presence of altered serine metabolism and increased vesicular trafficking in the frontoparietal cortex of WAG/Rij rats compared with Wistar rats. These differences in the protein levels might reflect the crucial role of these proteins and related pathways in the generation of absence seizures. In the thalamic specimens, age-dependent changes in protein expression were remarkable, suggesting that this phenomenon may be a precursor or a consequence of absence seizures. Our findings further highlight the potential role of the mTOR signaling pathway in absence epilepsy. PMID:25323782

  8. Ethosuximide vs Valproate Long-term Remission of Absence Epilepsy

    J Gordon Millichap; Millichap, John J.

    2014-01-01

    Investigators from the Epilepsy Center, Lurie Children's Hospital of Chicago, and Yale School of Medicine, New Haven, CT, examined the possible association between long-term seizure outcome of childhood absence epilepsy (CAE) and the initial treatment with ethosuximide (ESM) or valproic acid (VPA).

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

    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.

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

    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...

  11. Childhood Absence Epilepsy: Poor Attention Is More Than Seizures

    ... for treating CAE. e138 © 2013 American Academy of Neurology ª"NFSJDBO "DBEFNZ PG /FVSPMPHZ 6OBVUIPSJ[FE SFQSPEVDUJPO ... medication impact on attention in childhood absence epilepsy. Neurology 2013;81:1572 – 1580. 2. Glauser TA, Cnaan ...

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

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

    2009-01-01

    and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using...... MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1....

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

    Péter Halász

    2015-01-01

    Full Text Available 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.

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

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

    2013-01-01

    Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onse...... has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE....

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

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

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

    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...... detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1...

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

    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...

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

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

    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 invo

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

    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...... cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed so far. Therefore, we aimed to compare the role of SLC2A1 mutations in EOAE and Childhood and Juvenile Absence Epilepsy (CAE, JAE). Method: 26 cases with EOAE and 40 probands with CAE or JAE were screened...... for SCL2A1 mutations by sequence analysis. Extensive phenotyping was performed in patients and family members. Results: Mutations in SLC2A1 were detected in 2/26 EOAE patients and 0/40 patients with familial absence epilepsy. One EOAE patient with a mild phenotype had a variant in exon 8 (c.1008G...

  20. Spatiotemporal mapping of interictal epileptiform discharges in human absence epilepsy: A MEG study

    Rozendaal, Y.J.W.; Luijtelaar, E.L.J.M. van; Ossenblok, P.P.W.

    2016-01-01

    PURPOSE: Although absence epilepsy is considered to be a prototypic type of generalized epilepsy, it is still under debate whether generalized 3 Hz spike-and-wave discharges (SWDs) might have a cortical focal origin. Here it is investigated whether focal interictal epileptiform discharges (IEDs), wh

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

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

    2006-01-01

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

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

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

    2010-01-01

    About 40% of children with childhood absence epilepsy develop generalized tonic-clonic seizures. It is commonly held that polyspike–wave pattern on the electroencephalogram (EEG) can predict this development of generalized tonic-clonic seizures. However, there is no firm evidence in support of this proposition. To test this assumption, we used survival analysis and compared the incidence of generalized tonic-clonic seizures in 115 patients with childhood absence epilepsy hav...

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

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

    2009-01-01

    seizures were evaluated in 70 children with the following syndromes: childhood absence epilepsy (CAE) 37, CAE+ photoparoxysmal response (PPR) 10, juvenile absence epilepsy (JAE) 8, juvenile myoclonic epilepsy (JME) 6, and unclassified 9. Polyspikes occurred in all syndromes but were more common in JME....... They were brought out by drowsiness and sleep in fragments of generalized spike and wave (GSW). Polyspikes were more likely to occur during photic stimulation, but were not influenced by age independently. GSW was more likely to be disorganized in JME than JAE, and in JAE than CAE. Increasing age and...

  4. The involvement of limbic structures in typical and atypical absence epilepsy

    Onat, F.Y.; Luijtelaar, E.L.J.M. van; Nehlig, A.; Snead, O.C.

    2013-01-01

    Typical and atypical seizures of absence epilepsy are thought to be generated by a rhythmogenic interplay between the cortex and the thalamus. However, the question remains as to which other subcortical and extrathalamic structures are involved in the pathophysiology of typical and atypical absence

  5. Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies.

    Yalçın, Ozlem

    2012-03-01

    Idiopathic absence epilepsies (IAE), that have high prevalence particularly among children and adolescents, are complex disorders mainly caused by genetic factors. Childhood absence epilepsy and juvenile absence epilepsy are among the most common subtypes of IAEs. While the role of ion channels has been the primary focus of epilepsy research, the analysis of mutation and association in both patients with absence epilepsies and animal models revealed the involvement of GABA receptors and calcium channels, but also of novel non-ion channel proteins in inducing spike wave discharges (SWD). Functional studies on a mutated variant of these proteins also support their role in the epileptogenesis of absence seizures. Studies in animal models point to both the thalamus and cortex as the origin of SWDs: the abnormalities in the components of these circuits leading to seizure activity. This review examines the current research on mutations and susceptibility alleles determined in the genes that code for the subunits of GABA receptors (GABRG2, GABRA1, GABRB3, GABRA5, GABA(B1) and GABA(B2)), calcium channels (CACNA1A, CACNA1G, CACNA1H, CACNA1I, CACNAB4, CACNAG2 and CACNG3), and novel non-ion channel proteins, taking into account the results of functional studies on these variants. PMID:22206818

  6. Altered Intrathalamic GABAA Neurotransmission in a Mouse Model of a Human Genetic Absence Epilepsy Syndrome

    Zhou, Chengwen; Ding, Li; Deel, M. Elizabeth; Ferrick, Elizabeth A.; Emeson, Ronald B; Gallagher, Martin J.

    2014-01-01

    We previously demonstrated that heterozygous deletion of Gabra1, the mouse homolog of the human absence epilepsy gene that encodes the GABAA receptor (GABAAR) α1 subunit, causes absence seizures. We showed that cortex partially compensates for this deletion by increasing the cell surface expression of residual α1 subunit and by increasing α3 subunit expression. Absence seizures also involve two thalamic nuclei: the ventrobasal (VB) nucleus, which expresses only the α1 and α4 subtypes of GABAA...

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

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

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

    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

  9. Identifying Brain Image Level Endophenotypes in Epilepsy

    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...

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

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

    2012-01-01

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

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

    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

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

    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....

  13. Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

    Tanaka, Miyabi; Olsen, Richard W.; Medina, Marco T.; Schwartz, Emily; Alonso, Maria Elisa; Duron, Reyna M.; Castro-Ortega, Ramon; Martinez-Juarez, Iris E.; Pascual-Castroviejo, Ignacio; Machado-Salas, Jesus; Silva, Rene; Bailey, Julia N.; Bai, Dongsheng; Ochoa, Adriana; Jara-Prado, Aurelio

    2008-01-01

    Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABAA receptor (GABAR) β3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. Anot...

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

    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...

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

    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...... 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....

  16. Altered intrathalamic GABAA neurotransmission in a mouse model of a human genetic absence epilepsy syndrome.

    Zhou, Chengwen; Ding, Li; Deel, M Elizabeth; Ferrick, Elizabeth A; Emeson, Ronald B; Gallagher, Martin J

    2015-01-01

    We previously demonstrated that heterozygous deletion of Gabra1, the mouse homolog of the human absence epilepsy gene that encodes the GABAA receptor (GABAAR) α1 subunit, causes absence seizures. We showed that cortex partially compensates for this deletion by increasing the cell surface expression of residual α1 subunit and by increasing α3 subunit expression. Absence seizures also involve two thalamic nuclei: the ventrobasal (VB) nucleus, which expresses only the α1 and α4 subtypes of GABAAR α subunits, and the reticular (nRT) nucleus, which expresses only the α3 subunit subtype. Here, we found that, unlike cortex, VB exhibited significantly reduced total and synaptic α1 subunit expression. In addition, heterozygous α1 subunit deletion substantially reduced miniature inhibitory postsynaptic current (mIPSC) peak amplitudes and frequency in VB. However, there was no change in the expression of the extrasynaptic α4 or δ subunits in VB and, unlike other models of absence epilepsy, no change in tonic GABAAR currents. Although heterozygous α1 subunit knockout increased α3 subunit expression in medial thalamic nuclei, it did not alter α3 subunit expression in nRT. However, it did enlarge the presynaptic vesicular inhibitory amino acid transporter puncta and lengthen the time constant of mIPSC decay in nRT. We conclude that increased tonic GABAA currents are not necessary for absence seizures. In addition, heterozygous loss of α1 subunit disinhibits VB by substantially reducing phasic GABAergic currents and surprisingly, it also increases nRT inhibition by prolonging phasic currents. The increased inhibition in nRT likely represents a partial compensation that helps reduce absence seizures. PMID:25447232

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

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

    2009-01-01

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

  18. Epilepsy

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

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

    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.

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

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

    2015-03-01

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

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

    Karson Ayşe

    2012-09-01

    Full Text Available 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 to cognitive impairment. In order to bridge this gap, we investigated age-dependent changes in learning and memory performance, anxiety-like behavior, and locomotor activity of WAG/Rij rats (a valid model of generalized absence epilepsy using passive avoidance, Morris water maze, elevated plus maze, and locomotor activity cage. We tested 5 month-old and 13 month-old WAG/Rij rats and compared their performance to age-matched Wistar rats. Results revealed a decline in emotional and spatial memory of WAG/Rij rats compared to age-matched Wistar rats only at 13 months of age. Importantly, there were no significant differences between WAG/Rij and Wistar rats in terms of anxiety-like behavior and locomotor activity at either age. Results pointed at age-dependent learning and memory deficits in the WAG/Rij rat model of absence epilepsy.

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

    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.

  3. Epilepsy

    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, ...

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

    Cui-Ping Xu

    2013-01-01

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

  5. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

    Tanaka, Miyabi; Olsen, Richard W; Medina, Marco T; Schwartz, Emily; Alonso, Maria Elisa; Duron, Reyna M; Castro-Ortega, Ramon; Martinez-Juarez, Iris E; Pascual-Castroviejo, Ignacio; Machado-Salas, Jesus; Silva, Rene; Bailey, Julia N; Bai, Dongsheng; Ochoa, Adriana; Jara-Prado, Aurelio; Pineda, Gregorio; Macdonald, Robert L; Delgado-Escueta, Antonio V

    2008-06-01

    Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. Another heterozygous missense mutation (S15F) was present in a singleton from Honduras. An exon 2 heterozygous missense mutation (G32R) was present in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a two-generation Honduran family. All mutations were absent in 630 controls. We studied functions and possible pathogenicity by expressing mutations in HeLa cells with the use of Western blots and an in vitro translation and translocation system. Expression levels did not differ from those of controls, but all mutations showed hyperglycosylation in the in vitro translation and translocation system with canine microsomes. Functional analysis of human GABA(A) receptors (alpha 1 beta 3-v2 gamma 2S, alpha 1 beta 3-v2[P11S]gamma 2S, alpha 1 beta 3-v2[S15F]gamma 2S, and alpha 1 beta 3-v2[G32R]gamma 2S) transiently expressed in HEK293T cells with the use of rapid agonist application showed that each amino acid transversion in the beta 3-v2 subunit (P11S, S15F, and G32R) reduced GABA-evoked current density from whole cells. Mutated beta 3 subunit protein could thus cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents. PMID:18514161

  6. Epilepsi

    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....

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

    Sarkisova, Karine; van Luijtelaar, Gilles

    2011-06-01

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

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

    Dixit, Abhijit; Suri, Mohnish

    2016-04-01

    Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient. PMID:26864574

  9. Epilepsy

    ... which can led to embarrassment and frustration or bullying, teasing, or avoidance in school and other social ... may enter trials of experimental drugs and surgical interventions. More about epilepsy research NIH Patient Recruitment for ...

  10. Epilepsy

    Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions ...

  11. Epilepsy

    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

  12. Epilepsy

    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,

  13. Epilepsy

    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

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

    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 major precipitating factor: emotional stress, although absence seizures are more likely to be provoked by stress than other types of epileptic seizures. This implies that mechanisms of stress vulnerabi...

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

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

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

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

    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

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

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

    2007-01-01

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

  19. Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy

    吕建军; 张月华; 潘虹; 陈育才; 刘晓燕; 姜玉武; 包新华; 沈岩; 吴沪生; 许克铭; 吴希如

    2004-01-01

    Background Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). CAE is considered to be a genetic disease, with a possible polygenic inheritance pattern. The genes responsible for CAE have not been identified yet. The object of this study was to investigate whether or not CAE is associated with the gene encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits α5 (GABRA5) and β3 (GABRB3) in a Chinese population. Methods Five microsatellite DNA repeats, 69CA, 85CA, 155CA1, 155CA2, and A55CA1, adjoining chromosome 15q11-q13, were used as genetic markers. Both case-control study and transmission/disequilibrium tests (TDTs), as well as fluorescence-based semi-automated genotyping techniques, were used in 90 CAE patient-mother-father trios and 100 normal controls of Han ethnicity to conduct association analysis. Results The frequencies of allele 5 of 69CA, alleles 2 and 8 of 85CA, alleles 6 and 7 of 155CA1, allele 2 of 155CA2, and alleles 1 and 11 of A55CA1 were significantly higher in CAE patients than in normal controls. To prevent spurious associations arising from population admixture, we further conducted TDT tests in the 90 CAE trios. The results of TDT analysis further suggested that microsatellite DNA repeats 85CA, 155CA1, and 155CA2 were associated with CAE.Conclusions GABA type-A receptor subunit genes GABRA5 and GABRB3 may be either directly involved in the etiology of CAE in the Chinese population or in linkage disequilibrium with disease-predisposing sites.

  20. Absence seizures associated with panic attacks initially misdiagnosed as temporal lobe epilepsy: the importance of prolonged EEG monitoring in diagnosis.

    McNamara, M E

    1993-01-01

    While temporal lobe epilepsy is often considered in the differential diagnosis of patients with anxiety or panic disorders, other types of epilepsy can confound the presentation or treatment of adults with panic disorders. The cases of two patients are presented who were initially thought to have temporal lobe epilepsy producing panic attacks, but who were subsequently found to have primary generalized seizures. The clinical implications are discussed.

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

    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.

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

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

    2007-04-01

    To 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.

  3. Galactosemia and phantom absence seizures

    Zeynep Aydin-Özemir; Pinar Tektürk; Zehra Oya Uyguner; Betül Baykan

    2014-01-01

    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 unremarkab...

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

    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.

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

    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

  6. Predictors of intractable childhood epilepsy

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

  7. Juvenile myoclonic epilepsy: Under-diagnosed syndrome

    Božić Ksenija

    2011-01-01

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

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

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

    2016-08-01

    Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. The molecular diagnosis of this condition has thus far only been made in 16 Old Order Mennonite patients carrying a homozygous 7 kb founder deletion of exons 9-13 of STRADA. We performed clinical whole exome sequencing (WES) on a 4-year-old Indian male with global developmental delay, history of failure to thrive, infantile spasms, repetitive behaviors, hypotonia, low muscle mass, marked joint laxity, and dysmorphic facial features including tall forehead, long face, arched eyebrows, small chin, wide mouth, and tented upper lip. A homozygous single nucleotide duplication, c.842dupA (p.D281fs), in exon 10 of STRADA was identified. Sanger sequencing confirmed the mutation in the individual and identified both parents as carriers. In light of the molecular discoveries, the patient's clinical phenotype was considered to be a good fit for PMSE. We identified for the first time a homozygous point mutation in STRADA causing PMSE. Additional bi-allelic mutations related to PMSE thus far have not been observed in Baylor ∼6,000 consecutive clinical WES cases, supporting the rarity of this disorder. Our findings may have treatment implications for the patient since previous studies have shown rapamycin as a potential therapeutic agent for the seizures and cognitive problems in PMSE patients. © 2016 Wiley Periodicals, Inc. PMID:27170158

  9. 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.

    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

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

    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)

  11. 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

    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.

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

    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.

  13. 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

    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

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

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

    2014-01-01

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

  15. Occipital intermittent rhythmic delta activity in absence epilepsy Atividade occipital delta rítmica intermitente em epilepsia ausência

    Laura M.F.F. Guilhoto

    2006-06-01

    Full Text Available Occipital intermittent rhythmic delta activity (OIRDA is considered good prognostic factor in typical absences (TA. We report electroclinical evolution in 14 patients with TA and OIRDA, which performed video-EEG. Seven patients were female; 9 had childhood absence epilepsy and the others did not present electroclinical characteristics for syndromic classification according to ILAE's classification (1989. Pyknolepsy was referred to in 13; TA was the only seizure type in 13; one had generalized tonic-clonic seizures (GTCS and three had myoclonic jerks during TA. VPA monotherapy controlled seizures in 11, diVPA and ESM, in one each. After seizure control EEG normalized in 10 while in three, spike-wave complexes (SWC persisted, accompanied by OIRDA in one. Finally in another, seizures were not controlled and SWC and OIRDA persisted. In conclusion, we observed in this series of TA and OIRDA with onset before 10 years, pyknolepsy as common finding and few GTCS. VPA controlled seizures in most cases and EEG normalized in 76.92%. We suggest that OIRDA could be considered good prognostic factor in TA associated with SWC and of epileptiform nature leading to appropriate investigation.Atividade occipital delta rítmica intermitente (AODRI é considerada fator de bom prognóstico em crises de ausência típica (AT. Neste estudo relatamos a evolução eletroclínica de 14 pacientes com AT e AODRI que realizaram vídeo-EEG. Sete pacientes eram do sexo feminino; nove tinham epilepsia ausência da infância e os outros não apresentavam características eletroclínicas para classificação sindrômica de acordo com a classificação da ILAE (1989. Picnolepsia foi relatada em 13; AT foi o único tipo de crise em 13; um tinha crises generalizadas TCG e três, abalos mioclônicos durante AT. Monoterapia com VPA controlou as crises em 11, diVPA e ESM, em um cada. Após o controle das crises, o EEG normalizou em 10; em três, complexos de espícula-onda (CEO

  16. Genetic determinants of common epilepsies

    Møller, Rikke Steensbjerre

    2014-01-01

    BACKGROUND: The epilepsies are a clinically heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsy, probably because of relatively small sample sizes and...... insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for...

  17. Galactosemia and phantom absence seizures

    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.

  18. Galactosemia and phantom absence seizures.

    Aydin-Özemir, Zeynep; Tektürk, Pınar; Uyguner, Zehra Oya; Baykan, Betül

    2014-01-01

    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. PMID:25624930

  19. TYPICAL ABSENCES: RESULTS OF OWN INVESTIGATIONS

    K. Yu. Mukhin

    2015-06-01

    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

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

    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. PMID:27086989

  1. Altered distribution and function of A2A adenosine receptors in the brain of WAG/Rij rats with genetic absence epilepsy, before and after appearance of the disease.

    D'Alimonte, Iolanda; D'Auro, Mariagrazia; Citraro, Rita; Biagioni, Francesca; Jiang, Shucui; Nargi, Eleonora; Buccella, Silvana; Di Iorio, Patrizia; Giuliani, Patricia; Ballerini, Patrizia; Caciagli, Francesco; Russo, Emilio; De Sarro, Giovambattista; Ciccarelli, Renata

    2009-09-01

    The involvement of excitatory adenosine A(2A) receptors (A(2A)Rs), which probably contribute to the pathophysiology of convulsive seizures, has never been investigated in absence epilepsy. Here, we examined the distribution and function of A(2A)Rs in the brain of Wistar Albino Glaxo/Rijswijk (WAG/Rij) rats, a model of human absence epilepsy in which disease onset occurs 2-3 months after birth. In the cerebral areas that are mostly involved in the generation of absence seizures (somatosensory cortex, reticular and ventrobasal thalamic nuclei), A(2A)R density was lower in presymptomatic WAG/Rij rats than in control rats, as evaluated by immunohistochemistry and western blotting. Accordingly, in cortical/thalamic slices prepared from the brain of these rats, A(2A)R stimulation with the agonist 2-[4-(-2-carboxyethyl)-phenylamino]-5'-N-ethylcarboxamido-adenosine failed to modulate either cAMP formation, mitogen-activated protein kinase system, or K(+)-evoked glutamate release. In contrast, A(2A)R expression, signalling and function were significantly enhanced in brain slices from epileptic WAG/Rij rats as compared with matched control animals. Additionally, the in vivo injection of the A(2A)R agonist CGS21680, or the antagonist 5-amino-7-(2-phenylethyl)-2-(2-fuyl)-pyrazolo-(4,3-c)1,2,4-triazolo(1,5-c)-pyrimidine, in the examined brain areas of epileptic rats, increased and decreased, respectively, the number/duration of recorded spontaneous spike-wave discharges in a dose-dependent manner during a 1-5 h post-treatment period. Our results support the hypothesis that alteration of excitatory A(2A)R is involved in the pathogenesis of absence seizures and might represent a new interesting target for the therapeutic management of this disease. PMID:19723291

  2. Approaches to refractory epilepsy

    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.

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

    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

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

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

    2015-01-01

    -represented in cases overall (P = 2.17 × 10(-5)). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10(-4)). CHD2 variation was not over-represented in photoparoxysmal...... response 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 with...

  5. Epilepsy - overview

    Epilepsy is a brain disorder in which a person has repeated seizures over time. Seizures are episodes ... Epilepsy occurs when permanent changes in the brain cause it to be too excitable or irritable. As ...

  6. A primary healthcare screening tool to identify depression and anxiety disorders among people with epilepsy in Zambia.

    Mbewe, Edward K; Uys, Leana R; Nkwanyana, Ntombifikile M; Birbeck, Gretchen L

    2013-05-01

    Among the 50 million people with epilepsy (PWE) worldwide, ~15 to 60% also likely suffer from depression and/or anxiety disorders, and 80% reside in low-income regions where these comorbidities are often underrecognized and undertreated. We developed a 10-item screening tool for the detection of depression and anxiety disorders for use in Zambian primary care clinics where the baseline detection rate of depression and/or anxiety disorders among PWE is ~1%. Consenting adults (n=595) completed the screening tool, and 53.7% screened positive. The screen was validated by a psychiatric clinical officer using DMS-IV criteria. Cronbach's alpha was 0.77 overall and 0.67 and 0.57 for the depression and anxiety components, respectively. Other test characteristics included sensitivity 56.6%, specificity 68.1%, positive predictive value 67.3%, and negative predictive value 57.5%. Interrater reliability (kappa) was 0.85. The psychometric qualities of the tool are inadequate. Development of further, better quality instruments is needed though this will likely require a longer tool which the healthcare workers delivering epilepsy care services have previously deemed nonfeasible for routine use. As we work toward development and acceptability of a more optimal instrument, use of this initial screening tool which healthcare workers are willing to use may increase the identification of comorbid depression and anxiety in the low resource setting described in the study. PMID:23510742

  7. Models of experimental epilepsy

    Fatih Ekici

    2011-03-01

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

  8. Neuroimaging in epilepsy

    Roy Trishit; Pandit Alak

    2011-01-01

    Epilepsy is a common neurological disorder with diverse etiologies. Neuroimaging plays an important role in workup of patients with epilepsy. It helps to identify brain pathologies that require specific treatment; and also in formulating syndromic and etiological diagnoses so as to give patients and their relatives an accurate prognosis. Magnetic resonance imaging, specially the 3 tesla MRI is the imaging of choice because of its ability to detect small lesions like mesial temporal sclerosis,...

  9. Personality characteristics and epilepsy

    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...

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

    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

  11. Memory in children with symptomatic temporal lobe epilepsy

    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.

  12. Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

    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

    2010-01-01

    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. PMID:21109226

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

    Chartonas, Dimitrios; Bose, Ruma

    2015-12-01

    In this article, we discuss the impact of migration and acculturation processes on the cultural, personal identity, and mental health of children who immigrate to a Western, multicultural environment, and the challenges clinicians in such environments face, when confronted with non-Western idioms of distress and healing practices. We do that by presenting a challenging clinical case of an 8-year-old girl who presented with very disorganized behavior, which matches a culturally accepted construct of spirit possession, in the context of migration trauma, acculturative stress, and new sibling transition. We identify cultural conflict in school and bullying as major mediators between acculturative stress and mental distress. We also aim at identifying vulnerability, risk and protective factors, and the importance of cultural coping resources. We explore in depth the patient's cultural background and the family's belief system and culturally shaped narratives, in order to arrive at a cultural formulation, which focuses on the significance of idioms of distress in shaping psychopathology and influencing the personal and interpersonal course of trauma- and stress-related disorders. We also call attention to the finding that in children, idioms of distress may manifest themselves in a somatic manner. We argue, together with other researchers, that spirit possession deserves more interest as an idiom of distress and a culture-specific response to traumatizing events. We finally emphasize the importance of an anti-reductionist clinical stance, that is able to use different levels of understanding processes of distress and healing, and seeks to reconciliate cultural divides and integrate different explanatory frameworks and help-seeking practices. PMID:25670159

  14. Coeliac disease and epilepsy.

    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.

  15. The Music Student with Epilepsy

    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…

  16. Musicogenic epilepsy.

    Stern, John

    2015-01-01

    Musicogenic epilepsy, which is a form of reflex epilepsy, is characterized by the triggering of epileptic seizures by specific music experiences. Individuals with musicogenic epilepsy differ in the music trigger, but may have similar seizures. Typically, these seizures are focal dyscognitive and have a temporal-lobe origin with a limbic system distribution. As such, the music trigger is likely related to either an emotional or memory aspect of music perception. Investigations into musicogenic epilepsy may lead to a better understanding of seizure propagation within the brain and of neurologic aspects of the music experience. Successful treatment of medication-resistant musicogenic epilepsy has been achieved with anterior temporal-lobe resection. PMID:25726285

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

    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. PMID:23646978

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

    IsciaLopes-Cendes

    2012-08-01

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

  19. American Epilepsy Society

    ... a Doctor | Donate main search Search American Epilepsy Society CLINICAL RESOURCES FAQs GUIDELINES IOM EPILEPSY MEDICAL MARIJUANA ... RENEW VOLUNTEER FAES: FELLOW OF THE AMERICAN EPILEPSY SOCIETY MAILING LIST PURCHASE FOR PATIENTS EPILEPSY BENEFIT INTERNATIONAL ...

  20. Epilepsy Foundation

    ... Gastaut Syndrome Infantile Spasms and Tuberous Sclerosis Complex Facebook Epilepsy Foundation of America Join David Taplinger, MD, ... helping to make Hidden Truths, The Mind Unraveled art show happen! For more information and tickets to ...

  1. Epilepsy in Adults with TSC

    Full Text Available ... best quality of life possible, so they should work with the caregivers to reach a balance between ... the treatment of epilepsy in adults with TSC. Working with a knowledgeable neurologist, you should identify the ...

  2. Submikroskopiske kromosomforandringer disponerer til epilepsi

    Møller, Rikke; 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...... variants predisposing to common IGE syndromes remain elusive. Identification of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 as rare but significant risk factors for IGE has provided new insights into the complex genetic predisposition of common epilepsies....

  3. Neuroimaging in epilepsy

    Roy Trishit

    2011-01-01

    Full Text Available Epilepsy is a common neurological disorder with diverse etiologies. Neuroimaging plays an important role in workup of patients with epilepsy. It helps to identify brain pathologies that require specific treatment; and also in formulating syndromic and etiological diagnoses so as to give patients and their relatives an accurate prognosis. Magnetic resonance imaging, specially the 3 tesla MRI is the imaging of choice because of its ability to detect small lesions like mesial temporal sclerosis, cortical dysplasias, small tumors, etc that are not detected by conventional MR or CT scan of brain. Identification of these lesions often helps in managing refractory epilepsies more effectively. However, cost and non-availability of MR in large part of the country necessitate the use of CT as an alternative. CT is often the initial investigation and also useful in acute situations. Functional imagings are used for pre-surgical work-up of refractory epilepsy cases with an aim to identify the epileptogenic focus and to delineate functional areas nearing the focus.

  4. Mutations in GABAA receptor subunits associated with genetic epilepsies.

    Macdonald, Robert L; Kang, Jing-Qiong; Gallagher, Martin J

    2010-06-01

    Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). These mutations are found in both translated and untranslated gene regions and have been shown to affect the GABAA receptors by altering receptor function and/or by impairing receptor biogenesis by multiple mechanisms including reducing subunit mRNA transcription or stability, impairing subunit folding, stability, or oligomerization and by inhibiting receptor trafficking. PMID:20308251

  5. Genetic Causes of Generalized Epilepsies.

    Helbig, Ingo

    2015-06-01

    Generalized epilepsies, particularly the idiopathic or genetic generalized epilepsies (GGEs), represent some of the most common epilepsies. Clinical genetic data including family studies and twin studies provide compelling evidence for a prominent genetic impact. The first decade of the 21st century was marked by progress in understanding the basic biology of generalized epilepsies including generalized/genetic epilepsies with febrile seizures plus (GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1. Subsequently, recurrent microdeletions at 15q13.3, 16p13.11, and 15q11.2 were found to be relevant risk factors for nonfamilial GGE. Genes for epileptic encephalopathies such as SLC2A1 were rediscovered in GGE, highlighting the biological continuum between different epilepsies. Genome-wide studies examining common genetic risk factors identified common variants in SCN1A, indicating a convergence of shared pathophysiological pathways in various types of epilepsies. In the era of next-generation sequencing, however, the GGEs appear more complex than expected, and small or moderately sized studies give only a limited genetic perspective. Thus, there is a strong impetus for large collaborative investigations on an international level. PMID:26060908

  6. Acupuncture for Refractory Epilepsy: Role of Thalamus

    Shuping Chen

    2014-01-01

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

  7. Neuroimaging in Epilepsy

    Mahmoud Motamedi

    2009-01-01

    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 s...

  8. Sexual problems in people with refractory epilepsy.

    Henning, Oliver J; Nakken, Karl O; Træen, Bente; Mowinckel, Petter; Lossius, Morten

    2016-08-01

    Sexual dysfunction is an important but often neglected aspect of epilepsy. The objective of this study was to explore the prevalence and types of sexual problems in patients with epilepsy and compare the results with similar data obtained from a representative sample of the general population. At the National Centre for Epilepsy in Norway, 171 of 227 consecutive adult inpatients and outpatients with epilepsy (response rate: 75.3%) and their neurologists participated in a questionnaire study about epilepsy and sexuality. The results were compared with data available from 594 adult Norwegians who had completed the same questionnaire. Patients with epilepsy had a significantly higher prevalence of sexual problems (women: 75.3% vs. 12.0%; men: 63.3% vs. 9.6%). The most commonly reported problems (>30%) were reduced sexual desire, orgasm problems, erection problems, and vaginal dryness. The patients reported considerable dissatisfaction regarding sexual functioning. Significantly more sexual problems were found in patients of both sexes with reduced quality of life and in women with symptoms of depression. We found no significant association between sexual problems and age of epilepsy onset, type of epilepsy, or use of enzyme-inducing antiepileptic drugs. Whereas age at sexual debut did not differ between the patients with epilepsy and the general population, men with epilepsy had a lower number of partners during the last 12months, and the proportion of women with a low frequency of intercourse was higher in the group with epilepsy. In conclusion, sexual problems are significantly greater in Norwegian patients with epilepsy than in the general adult population. As no single epilepsy type or treatment could be identified as a specific predisposing factor, it seems likely that there are multiple causes underlying our results, including both organic and psychosocial factors. PMID:27371882

  9. Focal epilepsy in the Belgian shepherd

    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...... seizures. In seven dogs, seizures could not be classified. The mode of inheritance of epilepsy was simple Mendelian. CLINICAL SIGNIFICANCE: This study identified that the Belgian shepherd suffers from genetically transmitted focal epilepsy. The seizure phenomenology expressed by family members have a...

  10. Voxel-based morphometry and epilepsy.

    Yasuda, Clarissa Lin; Betting, Luiz Eduardo; Cendes, Fernando

    2010-06-01

    Voxel-based morphometry is an automated technique for MRI analyses, developed to study differences in brain morphology and frequently used to study patients with diverse disorders. In epilepsy, it has been used to investigate areas with reduction or increase of gray and white matter, in different syndromes (i.e., temporal lobe epilepsy, focal cortical dysplasia and generalized epilepsies). In temporal lobe epilepsy, voxel-based morphometry showed gray/white matter atrophy extending beyond the atrophic hippocampus. These widespread abnormalities have been associated with seizure frequency, epilepsy duration, incidence of precipitating factors, cognitive dysfunction and surgical outcome. In generalized epilepsies, gray matter abnormalities were identified mainly in the thalamus and frontal cortex, reinforcing the role of the thalamocortical network in the mechanisms of generalized seizures. PMID:20518612

  11. Parental Infertility, Fertility Treatment, and Childhood Epilepsy

    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......, 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 was obtained from pregnancy questionnaires in early pregnancy. Children developing epilepsy were identified from the Danish National Patient Register and the Danish National Prescription Registry until 2013. Data were analysed using Cox proportional hazards regression adjusted for potential...

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

    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. PMID:26953368

  13. Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

    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.

    2010-01-01

    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-mo...

  14. Imaging of intractable paediatric epilepsy

    Sanjay Prabhu

    2015-10-01

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

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

    Gupta, V. P.; Shiveta Razdan; Rajesh Sharma; Pandita, K. K.; Sushil Razdan; Sunil Kumar Raina

    2012-01-01

    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 di...

  16. The Role of Investigative Modalities in Epilepsy Work-up

    Helen Nayeri

    2009-01-01

    "nEpilepsy is a common disorder, affecting 50 million people worldwide. The prevalence of epilepsy has significant medical, social, and economic implications both for the individual and for the society. "nIn evaluating the epilepsy patient, it is helpful to be familiar with the etiologies commonly associated with this disease. Identifiable causes of partial epilepsy have been divided into 5 categories, namely neoplasms, vascular abnormalities, mesial temporal sclerosis (MTS), non-va...

  17. Psychiatric Aspects of Childhood Epilepsy

    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

  18. Hereditary epilepsy syndromes

    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

  19. Ego functions in epilepsy

    Sørensen, A S; Hansen, H; Høgenhaven, H; Bolwig, T G

    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...

  20. Neurological morbidity of severe epilepsy.

    Janz, D

    1988-01-01

    The "severity" of a disease is a relative expression and its definition will vary depending on the perspective of the observer. The patient's subjective perception of the disease, the way it is regarded socially by the community, and the doctor's objective assessment rarely coincide. In fact, they are frequently diametrically opposed. As far as the patient's personal perception of epilepsy is concerned, there has apparently been no satisfactory attempt thus far at a systematic grading of the subjective handicap, despite the growth of interest in psychological matters and the self-help movement. Similarly, social ability or disability cannot be adequately assessed on the basis of medical criteria such as frequency and type of seizures. We present a grading system which will serve as an example of an appropriate method of assessing social abilities, and which will permit the patient's occupational potential to be estimated in relation to the risk of accidents resulting from seizures. From the medical point of view, the impairment of a patient's abilities due to epilepsy is a function of the patient's responsiveness to treatment. We present a critical review of the factors which have an effect on the therapeutic prognosis: the causes of epilepsy, underlying structural lesions, the incidence of convulsive status epilepticus, various types of attacks, and the different epileptic syndromes. Taking two examples--epilepsy presenting in the form of absence and epilepsy with complex focal seizures--we show that ultimately the "severity of epilepsy" can only be defined from the medical standpoint on the basis of several factors whose value is of a predictive nature. PMID:3292232

  1. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

    Hirvasniemi, A; Lang, H; Lehesjoki, A E; Leisti, J

    1994-01-01

    A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One th...

  2. Drug-resistant epilepsy associated with cortical dysplasias

    I. E. Poverennova

    2013-12-01

    Full Text Available Epilepsy associated with malformations of the cerebral cortex is reported in the literature to account for up to 25% of the total cases of symptomatic epilepsies. It is characterized by the most severe course and often induces drug-resistance in seizures. A group of patients with resistant seizures is singled out among the total number of patients with symptomatic epilepsy caused by cerebral cortical dysgenesis. The most important risk factors for resistance are identified in dysplasias. The prognostically unfavorable clinical features of epilepsy are described. A diagnostic algorithm is proposed to identify risk groups and to prevent drug-resistant forms of epilepsy.

  3. Video game epilepsy.

    Singh R; Bhalla A; Lehl S; Sachdev A

    2001-01-01

    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 ...

  4. Childhood epilepsy and sleep

    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...

  5. Epilepsy and radiological investigations

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

  6. Incidence and prevalence of epilepsy in 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 the...

  7. Citation classics in epilepsy

    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.

  8. Genetics of complex neurological disease: Challenges and opportunities for modeling epilepsy in mice and rats

    Frankel, Wayne N.

    2009-01-01

    Epilepsy is a complex neurological disease. Currently ~20 genetic variants are known to cause Mendelian forms of human epilepsy, leaving a vast heritability undefined with future hopes resting on candidate gene resequencing and/or large scale genome-wide association studies. Rodent models for genetically complex epilepsy have been studied for many years, but only recently have strong candidate genes emerged, including Cacna1g in the GAERS rat model of absence epilepsy and Kcnj10 in the low se...

  9. Anxiety in adolescent epilepsy. A clinimetric analysis.

    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. PMID:26906494

  10. Epilepsy in Adults with TSC

    Full Text Available ... for a listing of epilepsy centers go to www.naec-epilepsy.org or call 1-888-525- ... some individuals. Links Information for Women with Epilepsy: www.epilepsy.com/info/women Information for Men with ...

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

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

    1996-01-01

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

  12. Video game epilepsy.

    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.

  13. AN AYURVEDIC INSIGHT TOWARDS EPILEPSY

    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. Significant variables associated with epilepsy

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

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

    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

  16. Neuroimaging in Epilepsy

    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. PET imaging in temporal lobe epilepsy

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

    2006-07-01

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

  18. PET imaging in temporal lobe epilepsy

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

  19. Identifying Common Fallacies in the Choice of Environmental Taxes for Agricultural Pollution Control: The Absence of Transaction Costs and the Normality of Agricultural Pollutants

    Kampas, Athanasios

    2001-01-01

    The choice of environmental taxes is one of the central themes in policy design for agricultural pollution control, which dominates both empirical and theoretical research. This paper examines two assumptions very often employed in applied research, namely the absence of transaction costs and the normality of agricultural pollutants. Our results indicate that the well-known superiority of emission taxes over input taxes may not always be valid, when transaction costs are taken into account. F...

  20. Polymicrogyria-Associated Epilepsy

    J Gordon Millichap

    2013-09-01

    Full Text Available Investigators from the Boston Children's Hospital, New York University, Brown University, and Birmingham School of Medicine, AL, studied the clinical epilepsy and imaging features of 87 patients with polymicrogyria (PMG and epilepsy, recruited through the Epilepsy Phenome/Genome Project.

  1. Neuroimaging in epilepsy

    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.

    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. PMID:17397265

  3. Musical and poetic creativity and epilepsy.

    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

    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. Animal models of epilepsy: use and limitations

    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

  6. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

    Hirose, Shinichi

    2014-01-01

    The γ-aminobutyric acid receptor type A (GABAA receptor) is a ligand-gated chloride channel that mediates major inhibitory functions in the central nervous system. GABAA receptors function mainly as pentamers containing α, β, and either γ or δ subunits. A number of antiepileptic drugs have agonistic effects on GABAA receptors. Hence, dysfunctions of GABAA receptors have been postulated to play important roles in the etiology of epilepsy. In fact, mutations or genetic variations of the genes encoding the α1, α6, β2, β3, γ2, or δ subunits (GABRA1, GABRA6, GABRB2, GABRB3, GABRG2, and GABRD, respectively) have been associated with human epilepsy, both with and without febrile seizures. Epilepsy resulting from mutations is commonly one of following, genetic (idiopathic) generalized epilepsy (e.g., juvenile myoclonic epilepsy), childhood absence epilepsy, genetic epilepsy with febrile seizures, or Dravet syndrome. Recently, mutations of GABRA1, GABRB2, and GABRB3 were associated with infantile spasms and Lennox-Gastaut syndrome. These mutations compromise hyperpolarization through GABAA receptors, which is believed to cause seizures. Interestingly, most of the insufficiencies are not caused by receptor gating abnormalities, but by complex mechanisms, including endoplasmic reticulum (ER)-associated degradation, nonsense-mediated mRNA decay, intracellular trafficking defects, and ER stress. Thus, GABAA receptor subunit mutations are now thought to participate in the pathomechanisms of epilepsy, and an improved understanding of these mutations should facilitate our understanding of epilepsy and the development of new therapies. PMID:25194483

  7. Ego functions in epilepsy

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

    1988-01-01

    Two groups of epilepsy patients (28 patients with temporal lobe epilepsy and 15 patients with primary generalized epilepsy) entered a study of personality traits related to epilepsy, based on a modification of Bellak's semistructured interview for assessment of ego strength. Two groups of subjects...... served as controls: 15 patients with a non-neurological but relapsing disorder, psoriasis, and 15 healthy volunteers. Compared with the group of healthy volunteers, a decreased adaptive level of ego functioning was found in the epilepsy groups, regardless of seizure types and EEG findings, and, to a...... 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...

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

    Jan Stephen

    2011-01-01

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

  9. Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.

    Wight, Jenny E; Nguyen, Viet-Huong; Medina, Marco T; Patterson, Christopher; Durón, Reyna M; Molina, Yolly; Lin, Yu-Chen; Martínez-Juárez, Iris E; Ochoa, Adriana; Jara-Prado, Aurelio; Tanaka, Miyabi; Bai, Dongsheng; Aftab, Sumaya; Bailey, Julia N; Delgado-Escueta, Antonio V

    2016-03-01

    Juvenile myoclonic epilepsy (JME), the most common genetic epilepsy, remains enigmatic because it is considered one disease instead of several diseases. We ascertained three large multigenerational/multiplex JME pedigrees from Honduras with differing JME subsyndromes, including Childhood Absence Epilepsy evolving to JME (CAE/JME; pedigree 1), JME with adolescent onset pyknoleptic absence (JME/pA; pedigree 2), and classic JME (cJME; pedigree 3). All phenotypes were validated, including symptomatic persons with various epilepsies, asymptomatic persons with EEG 3.5-6.0 Hz polyspike waves, and asymptomatic persons with normal EEGs. Two-point parametric linkage analyses were performed with 5185 single-nucleotide polymorphisms on individual pedigrees and pooled pedigrees using four diagnostic models based on epilepsy/EEG diagnoses. Haplotype analyses of the entire genome were also performed for each individual. In pedigree 1, haplotyping identified a 34 cM region in 2q21.2-q31.1 cosegregating with all affected members, an area close to 2q14.3 identified by linkage (Z max = 1.77; pedigree 1). In pedigree 2, linkage and haplotyping identified a 44 cM cosegregating region in 13q13.3-q31.2 (Z max = 3.50 at 13q31.1; pooled pedigrees). In pedigree 3, haplotyping identified a 6 cM cosegregating region in 17q12. Possible cosegregation was also identified in 13q14.2 and 1q32 in pedigree 3, although this could not be definitively confirmed due to the presence of uninformative markers in key individuals. Differing chromosome regions identified in specific JME subsyndromes may contain separate JME disease-causing genes, favoring the concept of JME as several distinct diseases. Whole-exome sequencing will likely identify a CAE/JME gene in 2q21.2-2q31.1, a JME/pA gene in 13q13.3-q31.2, and a cJME gene in 17q12. PMID:27066514

  10. Progressive Myoclonus Epilepsies.

    Kälviäinen, Reetta

    2015-06-01

    The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis of a PME depends on the specific disease. Lafora disease, the neuronal ceroid lipofuscinoses, and the neuronopathic form of Gaucher disease have an invariably fatal course. In contrast, Unverricht-Lundborg disease has a much slower progression, and with adequate care many patients have a normal life span. The specific diseases that cause PME are diagnosed by recognition of their age of onset, the associated clinical symptoms, the clinical course, the pattern of inheritance, and by special investigations such as enzyme measurement, skin/muscle biopsy, or gene testing. PMID:26060909

  11. [Current management of epilepsy].

    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. PMID:24018740

  12. Epilepsy in Children With ADHD: A Population-Based Study

    Davis, Shanlee M.; Katusic, Slavica K.; Barbaresi, William J.; Killian, Jill; Weaver, Amy L.; Ottman, Ruth; Wirrell, Elaine C.

    2010-01-01

    Prior studies suggest a higher incidence of symptoms of attention-deficit/hyperactivity disorder in children with epilepsy, but few have investigated epilepsy in children with attention-deficit/hyperactivity disorder. Our objective was to compare the incidence and characteristics of epilepsy among population-based, research identified cohorts of children with (N=358) and without attention-deficit/hyperactivity disorder (N=728), based on medical record review to age 20. Data abstracted include...

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

    Memarian, N; Thompson, PM; Engel, J.; Staba, RJ

    2013-01-01

    Mesial temporal lobe epilepsy (MTLE) is the most common of the surgically remediable drug-resistant epilepsies. MRI is the primary diagnostic tool to detect anatomical abnormalities and, when combined with EEG, can more accurately identify an epileptogenic lesion, which is often hippocampal sclerosis in cases of MTLE. As structural imaging technology has advanced the surgical treatment of MTLE and other lesional epilepsies, so too have the analysis techniques that are used to measure differen...

  14. Predictive factors of seizure control in childhood onset epilepsy

    Eli Shahar; Jacob Genizi

    2008-01-01

    Background: Prediction of the long-term outcomes of childhood-onset epilepsy remains crucial for the future well-being of the affected children and their families and for planning proper therapeutic and educational programs. Objective: To identify and analyze the early predictive factors of seizure control in childhood-onset epilepsies referred at the age of 1 month up to the age of 18 years to the Epilepsy Service at the Meyer Children Hospital, Rambam Medical Center, Haifa, Israel. Materia...

  15. The mean age of petit mal epilepsy

    Syeda, Afsarunnesa; Karim, Md. Rezaul

    2016-01-01

    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.

  16. Epilepsy in Adults with TSC

    Full Text Available ... an epilepsy surgery program. Dietary Therapy: The ketogenic diet is a diet that is high in fat content and low ... treating epilepsy in some individuals with epilepsy. This diet is more often used for children rather than ...

  17. Genetics Home Reference: Northern epilepsy

    ... Understand Genetics Home Health Conditions Northern epilepsy Northern epilepsy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Northern epilepsy is a genetic condition that causes recurrent seizures ( ...

  18. Epilepsy in Adults with TSC

    Full Text Available ... are often distributed throughout the brain. Devices to treat epilepsy include vagus nerve stimulation and responsive neurostimulation. Who Treats Epilepsy? A general neurologist can treat uncomplicated epilepsy ...

  19. A study of epilepsy-related psychosis

    Roy A

    2003-07-01

    Full Text Available The association of epilepsy and psychosis is studied. Among the 500 patients of epilepsy evaluated, there were 12 patients, 8 males and 4 females with epilepsy-related psychosis. Their average age was 38 years. The interval between the age of onset of epilepsy and psychotic features was 9 years. Complex partial seizures were present in 7 patients and primary generalized tonic-clonic seizure was present in 1 patient. Four patients had post-ictal psychosis, 7 had acute interictal psychosis and 1 patient had chronic psychosis. The inter-ictal and chronic psychoses were schizophreniform whereas the post-ictal psychoses were not. EEG showed a temporal focus in 7 patients with complex partial seizures and an extra-temporal focus was identified in 4 out of the other 5 patients. Imaging (CT scan/MRI revealed abnormalities in 10 patients. This study attempts to define the characteristics of psychoses occurring in epileptics.

  20. Christianity and epilepsy.

    Owczarek, K; Jędrzejczak, J

    2013-01-01

    Epileptic seizures have been known from time immemorial. Throughout the ages, however, ideas concerning the aetiology and treatment of epilepsy have changed considerably. Epilepsy is mentioned many times in the Pentateuch, where it is portrayed as a mysterious condition, whose symptoms, course and contingencies evade rational laws and explanations. In the Middle Ages, the accepted view which prevailed in social consciousness was that patients with epilepsy were possessed by Satan and other impure spirits. One common method of treatment of epileptic seizures was to submit the patient to cruel exorcisms. Patients were frequently injured in the process and some of them even died. Our understanding of epilepsy and its social consequences has improved considerably within the last century. The most significant progress as far as diagnosis and treatment of epilepsy is concerned took place in the last four decades of the twentieth century. Although we now know much more about epilepsy than we used to, this knowledge is still insufficiently popularized. PMID:23821425

  1. Epilepsy in children with subacute sclerosing panencephalitis

    Jović Nebojša J.

    2013-01-01

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

  2. Stress and childhood epilepsy

    Campen, J.S. van

    2015-01-01

    Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological mechanisms underlying the effects of stress on seizures in childhood epilepsy, we performed a variety of studies, which are described in this thesis. In part I we evaluate the extent of stress sensitivi...

  3. Epilepsy in Adults with TSC

    Full Text Available ... since the tubers are often distributed throughout the brain. Devices to treat epilepsy include vagus nerve stimulation and responsive neurostimulation. Who Treats Epilepsy? A general ...

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

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

    2015-01-01

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

  5. Epilepsy: Indian perspective

    Nandanavana Subbareddy Santhosh

    2014-01-01

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

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

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

    2016-01-01

    deletion. Our data support the role of RORB gene variants/CNVs in neurodevelopmental disorders including epilepsy, and especially in generalized epilepsies with predominant absence seizures.European Journal of Human Genetics advance online publication, 29 June 2016; doi:10.1038/ejhg.2016.80.......Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic...... pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in...

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

    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.

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

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

    2015-01-01

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

  9. Tlazolteotl, the Aztec goddess of epilepsy.

    Ladino, Lady Diana; Téllez-Zenteno, José Francisco

    2016-04-01

    Epilepsy has afflicted humanity during most of the extent of documented history. The Aztecs believed that illnesses were punishments that were sent from a furious goddess. In particular, epilepsy was considered in Aztec culture as a "sacred disease", and convulsions were traditionally associated with a deified woman who had died at childbirth. As the goddess Shiva and Apasmâra in ancient India and Saint Valentine in Germany, Tlazolteotl was considered able to bring about and send away epilepsy. We performed a comprehensive review to identify Tlazolteotl depictions and its historical context related with epilepsy. Tlazolteotl is one of the most endearing and complex goddesses of the Mesoamericans. She was the deity of the black fertile and fecund earth that gains its energy from death and in turn feeds life. Associated with purification, expiation, and regeneration, she embodied fertility and turned all garbage, physical and metaphysical, into rich life. This article reviews the most relevant artistic works related with Tlazolteotl. We also present a modern depiction of the Aztec goddess of epilepsy from the Mexican artist Eduardo Urbano Merino, displaying the supernatural view of epilepsy in America. PMID:26921600

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

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

    2015-01-01

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

  11. Exploring the Relationship between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis

    Cuccaro, Michael L.; Tuchman, Roberto F.; Hamilton, Kara L.; Wright, Harry H.; Abramson, Ruth K.; Haines, Jonathan L.; Gilbert, John R.; Pericak-Vance, Margaret

    2012-01-01

    Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster…

  12. A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2

    Lopes-Cendes, I.; Scheffer, I E.; Berkovic, S F; Rousseau, M.; Andermann, E.; Rouleau, G. A.

    2000-01-01

    Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous epilepsy phenotypes. We genotyped 41 family members, including 21 affected individuals, to localize the gene causing epilepsy in a large family segregating an autosomal dominant form of GEFS+. A genomewide search examining 197 markers identified linkage of GEFS+ to chromosome 2, on the basis of an initial positive LOD score for ma...

  13. Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

    Seppälä, Eija H.; Koskinen, Lotta L. E.; Gulløv, Christina H.; Päivi Jokinen; Peter Karlskov-Mortensen; Luciana Bergamasco; Izabella Baranowska Körberg; Sigitas Cizinauskas; Oberbauer, Anita M.; Mette Berendt; Merete Fredholm; Hannes Lohi

    2012-01-01

    Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal with or without secondary generalization, 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 epilepsi...

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

    Ram Lakhan

    2013-01-01

    Background: Epilepsy is a disorder that is commonly found in people with intellectual disability (ID). The prevalence of epilepsy increases with the severity of ID. The objective of this study was to determine if there is an association between intelligence quotient (IQ) and epilepsy in children with ID. Materials and Methods: A total of 262 children, aged 3-18 years, with ID were identified as part of a community-based rehabilitation project. These children were examined for epilepsy and dia...

  15. Use of stem cell transplantation to treat epilepsy: A Web of Science-based literature analysis

    Yin, Zhongmin; Dong, Yushu; Zhang, Jiyang; Wang, Li

    2012-01-01

    OBJECTIVE: To identify global research trends in the use of stem cell transplantation to treat epilepsy. DATA RETRIEVAL: We performed a bibliometric analysis of studies on the use of stem cell transplantation to treat epilepsy during 2002–2011, retrieved from Web of Science, using the key words epilepsy or epileptic or epilepticus or seizure and “stem cell”. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on the use of stem cell transplantation to treat epilepsy i...

  16. Epilepsi og orale manifestationer

    Jacobsen, Pernille Endrup; Haubek, Dorte; Østergaard, John Rosendahl

    2016-01-01

    Risiko for sygdom I mundhulen hos patienter med epilepsy Epilepsi er en kronisk neurologisk lidelse, der ofte vil kræve medicinsk behandling for at holde patienterne fri for anfald. Lidelsen kan have betydning for patientens psykosociale og kognitive udvikling, der indirekte kan have betydning for...

  17. Epilepsy and religion

    Khwaja Geeta

    2007-01-01

    Full Text Available This study has focused on the interplay between epilepsy and religion. A total of 100 patients in the age range of 15-84 years were included in the study. The duration of epilepsy in these patients ranged from 1-35 years. The majority (66% had generalized seizures and good to complete seizure control (77%. Regarding social/religious beliefs, 6% of the patients attributed their epilepsy to the curse of God and 14% saw their affliction as a form of punishment for bad deeds committed in the current or past life. Epilepsy was regarded as contagious by 13%. After the onset of epilepsy, 7% of the subjects became skeptics and less religious, while 29% became more religious. Only 2% reported mystic experiences. There was, however, no significant impact of the duration of epilepsy or seizure type on the pattern of religiosity. In 44 cases with symptomatic epilepsy, no definite correlation was observed between the lesion site and laterality and the religious temperament. Delay in seeking treatment and poor compliance due to false religious beliefs, ignorance, and superstition was observed in 33%. However, all religious beliefs were not maladaptive and overall, 80% cases felt that religion had helped them in coping with epilepsy.

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

    Beghi, Ettore

    2016-05-01

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

  19. Invasive Evaluations for Epilepsy Surgery: A Review of the Literature

    Enatsu, Rei; Mikuni, Nobuhiro

    2016-01-01

    Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy. This article reviews the usefulness, methods, and limitations of invasive evaluations for epilepsy surgery. Invasive evaluations include various types of intracranial electrodes such as stereotactically implanted intracranial depth electrodes (stereo-EEG), chronic subdural electrodes, and intraoperative electrocorticography. Scalp EEG is distorted by t...

  20. Epilepsy treatment and creativity.

    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". PMID:26831642

  1. ADHD in idiopathic epilepsy

    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.

  2. Epilepsy after stroke

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

    1987-01-01

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

  3. Nuclear imaging in epilepsy

    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

  4. Advances in the development of biomarkers for epilepsy.

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

    2016-07-01

    Over 50 million people worldwide have epilepsy. In nearly 30% of these cases, epilepsy remains unsatisfactorily controlled despite the availability of over 20 antiepileptic drugs. Moreover, no treatments exist to prevent the development of epilepsy in those at risk, despite an increasing understanding of the underlying molecular and cellular pathways. One of the major factors that have impeded rapid progress in these areas is the complex and multifactorial nature of epilepsy, and its heterogeneity. Therefore, the vision of developing targeted treatments for epilepsy relies upon the development of biomarkers that allow individually tailored treatment. Biomarkers for epilepsy typically fall into two broad categories: diagnostic biomarkers, which provide information on the clinical status of, and potentially the sensitivity to, specific treatments, and prognostic biomarkers, which allow prediction of future clinical features, such as the speed of progression, severity of epilepsy, development of comorbidities, or prediction of remission or cure. Prognostic biomarkers are of particular importance because they could be used to identify which patients will develop epilepsy and which might benefit from preventive treatments. Biomarker research faces several challenges; however, biomarkers could substantially improve the management of people with epilepsy and could lead to prevention in the right person at the right time, rather than just symptomatic treatment. PMID:27302363

  5. The structure of neural psychological disorders in patients with symptomatic and idiopathic epilepsy

    Azizova Rano Bakhodirovna

    2015-01-01

    Symptomatic and idiopathic forms of epilepsy have several differences in neural psychological values. The most expressed cognitive deficit in the form of cognitive disorders is characteristic for patients with symptomatic epilepsy. The absence of inter-hemisphere asymmetry of P300 wave amplitude was revealed in cases of idiopathic and symptomatic forms, indicating functional disorders.

  6. Epilepsy is Dancing.

    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. PMID:26398488

  7. Mitochondrial disease and epilepsy.

    Rahman, Shamima

    2012-05-01

    Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. Individuals with mitochondrial epilepsy are frequently prescribed multiple anticonvulsants, and the role of vitamins and other nutritional supplements and the ketogenic diet remain unproven. PMID:22283595

  8. Experimental models of epilepsy

    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.

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

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

    2015-10-01

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

  10. Mitochondrial diseases and epilepsy.

    Bindoff, Laurence A; Engelsen, Bernt A

    2012-09-01

    The mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy and ragged-red fibers (MERRF), and polymerase gamma (POLG) related disease. In addition, we review the pathogenesis and possible treatment of these disorders. PMID:22946726

  11. MRI volumetry shows increased anterior thalamic volumes in patients with absence seizures.

    Betting, Luiz Eduardo; Mory, Susana Barreto; Lopes-Cendes, Iscia; Li, Li Min; Guerreiro, Marilisa M; Guerreiro, Carlos A M; Cendes, Fernando

    2006-05-01

    The interaction between thalamus and cortex appears to be critical to the pathophysiology of idiopathic generalized epilepsies (IGEs). The objective of this study was to investigate thalamic volumes of a group of patients with IGEs using high-resolution MRI. Thalamic segmentation was performed by the same rater, who was unaware of the diagnosis. Thalamic volumes were divided into anterior half and posterior half. One hundred forty-seven patients were scanned (71 with juvenile myoclonic epilepsy, 49 with generalized tonic-clonic seizures only, and 27 with absence epilepsy). Subgroup analyses with corrections for multiple comparisons showed that, when compared with those of controls, anterior thalamic volumes were increased in patients with absence epilepsy and juvenile myoclonic epilepsy with absence seizures, but not in patients with generalized tonic-clonic seizures only and juvenile myoclonic epilepsy without absence seizures. Our results demonstrated that the anterior thalamus is structurally different in patients with IGEs and absence seizures as compared with patients with IGEs without absence seizures. PMID:16530016

  12. Genetics Home Reference: juvenile myoclonic epilepsy

    ... 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). ...

  13. Certification of deaths attributable to epilepsy

    Langan, Y.; Nashef, L; Sander, J

    2002-01-01

    Methods: All 1997 death entries mentioning epilepsy as a cause of death in those 16–50 years were examined and classified as sudden unexpected death in epilepsy (SUDEP), other epilepsy related deaths, or non-epilepsy deaths.

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

    Jonasson, Charlotte

    2011-01-01

    absence is best prevented. Sample: Fieldwork was conducted at a vocational school containing 850 students. In this particular study, 24 student interviews were used in combination with interviews from four teachers and three school managers. Design and methods: The study is an ethnographic case study 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...... the social practice of students, teachers and school managers. Evaluations of both absence from class and absence in class are important for understanding how absence behaviour can be identified and prevented....

  15. Neuropsychological advocacy and epilepsy.

    Loring, David W; Hermann, Bruce P; Cohen, Morris J

    2010-04-01

    Neuropsychologists are in a unique position to be active advocates for patients with epilepsy given their unique understanding of the behavioral and cognitive effects associated the disease, its progression, and its treatment. Neuropsychologists communicate the cognitive and behavioral consequences of epilepsy and its long-term implications to patients, family, school, and employers. In this article we review factors influencing the neuropsychological profile of patients with epilepsy, and discuss common behavioral comorbidities, as well as special issues associated with school placement and long-term planning. We also include a seizure action plan, which is designed to be both an educational tool for individuals with limited epilepsy knowledge, and a way to minimize stigma associated with an event should a seizure occur during school or work. PMID:19214828

  16. Viral Encephalitis and Epilepsy

    J Gordon Millichap

    2008-01-01

    The role of viral meningitis in the cause of epilepsy is reviewed by researchers from Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India; and University of Malaya, Kuala Lumpur, Malaysia.

  17. Managing epilepsy in pregnancy

    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 in...

  18. Cerebral palsy and epilepsy

    Knežević-Pogančev Marija

    2010-01-01

    Introduction. Cerebral palsy is the most common cause of physical disability in early childhood. Epilepsy is known to have a high association with cerebral palsy. All types of epileptic seizures can be seen in patients with cerebral palsy. Complex partial and secondary generalized ones are the most frequent seizure types. In persons with cerebral palsy and mental retardation, the diagnosis of epilepsy presents unique difficulties. Generally they are not able to describe the epileptic ev...

  19. GEM THERAPY AND EPILEPSY

    Murthy, S.R.N.; Shenoy, Raghuram

    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.

  20. [Epilepsy and Szondi test].

    Andrade, L

    1976-05-01

    After having briefly recalled the different studies of epilepsy done on the basis of the Szondi test, the author proposes to study the drive structure of three groups of epileptics (19 cases of primary generalized epilepsy, 18 cases of partial temporal lobe epilepsy, 31 cases of partial non-temporal epilepsy) with the purpose of finding possible differences in psychological drive among the three groups and, at the same time, evaluating the test's capacity for discrimination by using the statistical method. The three groups show the same type of profile generally characterized by an extreme need for acceptance and affection (h + !, C- + !) counteracted by a strong repression (hy - !, k -) resulting in agressiveness (s + !). However, statistical analysis (chi square test), the drive formula, the drive class and the EKP showed that, beyond this shared area, there are differences among the three groups. The author then attempts to sort out the meaning of these differences. Finally, based on certain passages from Szondi as well as the test results, the author puts forward an hypothesis linking the psychological drive problematic in primary generalized epilepsies to a very early disturbance in the history of the individual's psychic development, the origins of which would go back to a split in the unity between mother and child. On the other hand, drive disturbances in partial epilepsies would be considered secondary to the illness. PMID:788602

  1. Epilepsy, cognition and behavior.

    Gulati, Sheffali; Yoganathan, Sangeetha; Chakrabarty, Biswaroop

    2014-10-01

    Epilepsy is defined as two or more unprovoked seizures. Epileptic patients have intellectual disability and behavioral co-morbidities to the tune of up to 25 and 75% respectively. Various factors like underlying etiology, socioeconomic environment at home, age at onset, seizure semiology, seizure descriptors like duration, severity and frequency, therapy related adverse effects secondary to antiepileptic drugs and epilepsy surgery have been implicated for the causation of cognitive and behavioral impairment in epilepsy. Cognitive epilepsy has emerged as a specific entity. This may manifest as a transient behavioral or cognitive change, insidous onset subacute to chronic encephalopathy or more catastrophic in the form of nonconvulsive status epilepticus. Cognitive impairment seen in epileptic children include difficulties in learning, memory, problem solving as well as concept formation. Anxiety, depression and attention deficit hyperkinetic disorders are the most common psychiatric co-morbidities seen. Investigating a child with epilepsy for cognitive and behavioral impairment is difficult as these tests would require cooperation from the patient's side to a significant extent. A rational approach towards treatment would be judicious selection of antiepileptic drugs, treatment of underlying cause, appropriate management of behavioral co-morbidities including psychopharmacotherapy and a trial of immunotherapy (particularly in cognitive epilepsies), wherever appropriate. PMID:25073691

  2. National Epilepsy Surgery Support Activity

    K Radhakrishnan

    2014-01-01

    Full Text Available While there are over one million people with drug-resistant epilepsy in India, today, there are only a handful of centers equipped to undertake presurgical evaluation and epilepsy surgery. The only solution to overcome this large surgical treatment gap is to establish comprehensive epilepsy care centers across the country that are capable of evaluating and selecting the patients for epilepsy surgery with the locally available technology and in a cost-effective manner. The National Epilepsy Surgery Support Activity (NESSA aims to provide proper guidance and support in establishing epilepsy surgery programs across India and in neighboring resource-poor countries, and in sustaining them.

  3. Mutations in KCNT1 cause a spectrum of focal epilepsies

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

    2015-01-01

    Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated...... with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in...... epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI...

  4. 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.

    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. PMID:22917806

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

    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. PMID:25245133

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

    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.

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

    Colebunders, Robert; Tepage, Floribert; Rood, Ente; Mandro, Michel; Abatih, Emmanuel Nji; Musinya, Gisele; Mambandu, Germain; Kabeya, José; Komba, Michel; Levick, Bethany; Mokili, John L; Laudisoit, Anne

    2016-01-01

    Background An increased prevalence of epilepsy has been reported in many onchocerciasis endemic areas. Objective To determine the prevalence and distribution of epilepsy in an onchocerciasis endemic region in the Democratic Republic of the Congo (DRC). Design/Methods 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. Results 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. Conclusions 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. PMID:27139245

  8. Epilepsy in Adults with TSC

    Full Text Available ... of time. Epilepsy and Seizures Epilepsy is any brain disorder that causes repeated, spontaneous seizures of any ... called "fits" or convulsions) are episodes of disturbed brain function that cause changes in attention or behavior. ...

  9. Epilepsy in Adults with TSC

    Full Text Available ... brain. Devices to treat epilepsy include vagus nerve stimulation and responsive neurostimulation. Who Treats Epilepsy? A general ... imaging (MRI) of the brain throughout adolescence and early adulthood (at least until the age of 21 ...

  10. Epilepsy in Adults with TSC

    Full Text Available ... centers in a large city and/or an academic center near you (for a listing of epilepsy ... Men with TSC Many men with epilepsy will experience changes in sexual drive and performance. For example, ...

  11. 77 FR 59197 - Epilepsy Program

    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...

  12. Epilepsy in Adults with TSC

    Full Text Available ... 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 ...

  13. Epilepsy in Adults with TSC

    Full Text Available ... might benefit their individual situation. Epilepsy Surgery: Surgical approaches to treating epilepsy in individuals with TSC are ... Facebook Twitter YouTube How to Make a Donation Research Directed Donations Tributes Planned Giving/Endowments Partner Offers ...

  14. Epilepsy in Adults with TSC

    Full Text Available ... centers in a large city and/or an academic center near you (for a listing of epilepsy ... epilepsy will experience changes in sexual drive and performance. For example, many men report a decrease in ...

  15. Epilepsy in Adults with TSC

    Full Text Available ... SEGAs that are not candidates for curative surgery. Evaluation of New-Onset Seizures All individuals with new- ... diet that are more palatable for some individuals. Links Information for Women with Epilepsy: www.epilepsy.com/ ...

  16. Epilepsy in Adults with TSC

    Full Text Available ... delay. Children outgrow infantile spasms because they either go away or transition to other types of seizures. ... near you (for a listing of epilepsy centers go to www.naec-epilepsy.org or call 1- ...

  17. Epilepsy in Adults with TSC

    Full Text Available ... time. Epilepsy and Seizures Epilepsy is any brain disorder that causes repeated, spontaneous seizures of any type. ... Government Action Team TS Alliance Online Support Community Facebook Twitter YouTube How to Make a Donation Research ...

  18. Epilepsy in Adults with TSC

    Full Text Available ... to experience a return of seizures after being well controlled for long periods of time. Epilepsy and ... general neurologist can treat uncomplicated epilepsy that is well controlled on one medication. However, most people with ...

  19. Voxel-based morphometry in patients with idiopathic generalized epilepsies.

    Betting, Luiz Eduardo; Mory, Susana Barreto; Li, Li Min; Lopes-Cendes, Iscia; Guerreiro, Marilisa M; Guerreiro, Carlos A M; Cendes, Fernando

    2006-08-15

    Idiopathic generalized epilepsies (IGE) are a group of frequent age-related epilepsy syndromes. IGE are clinically characterized by generalized tonic-clonic, myoclonic and absence seizures. According to predominant seizure type and age of onset, IGE are divided in subsyndromes: childhood absence and juvenile absence epilepsy (AE), juvenile myoclonic epilepsy (JME) and generalized tonic-clonic seizures on awakening (GTCS). The limits between these subsyndromes are not well defined, supporting the existence of only one major syndrome. Visual assessment of routine magnetic resonance imaging (MRI) in patients with IGE is normal. MRI voxel-based morphometry (VBM) uses automatically segmented gray and white matter for comparisons, eliminating the investigator bias. We used VBM to study 120 individuals (47 controls, 44 with JME, 24 with AE and 15 with GTCS) to investigate the presence of subtle structural abnormalities in IGE subsyndromes. VBM was performed searching for abnormalities on gray matter concentration (GMC) between patients groups and controls. Compared to controls, JME presented increased GMC in frontobasal region and AE showed increased GMC in the superior mesiofrontal region. The GTCS group did not differ from controls. There were no areas of reduced GMC with the statistical level selected. Region of interest analysis showed increased GMC in the anterior portion of the thalamus in patients with absence seizures. Our results support subtle GMC abnormalities in patients with JME and AE when compared to controls. These findings suggest the existence of different patterns of cortical abnormalities in IGE subsyndromes. PMID:16702001

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

    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.

  1. Neuromodulation for epilepsy

    Pranshu Bhargava

    2008-01-01

    Full Text Available Epilepsy is a common disease. WHO data suggests that 1 in 20 people may have an epileptic seizure in their lifetime and at least 1 in 200 go on to develop epilepsy. Anticonvulsant drug therapy using one or more drugs works as an effective tool to suppress seizures in only 70% of the patients, the remaining 30% are either not responsive or suffer major side effects. Surgical resection then forms the next line of management in selected patients. However in some cases surgical resection may not be possible, hence arises the need for alternative therapies. Neuromodulation of the Central Nervous system is a novel technique under evaluation for Medically Intractable epilepsy. CNS stimulation for epilepsy has been a matter of extensive research. We review the Neurophysiological basis of Neuromodulation in Epilepsy and various modalities viz Vagal nerve stimulation (VNS, Transcranial magnetic stimulation (TMS and Direct cortical stimulation (DCS. Deep brain stimulation (Hippocampal, Anterior thalamic and STN and RNS are newer modalities and are also reviewed.

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

    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.

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

    Ram Lakhan

    2013-01-01

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

  4. The Effect of Lamotrigine on Epilepsy

    Hossein Ali Ebrahimi

    2012-10-01

    Full Text Available Background:Epilepsy is a common neurologic disorder affecting about 1% of the population (1. The prevalence of active epilepsy in Kerman is 7.87/1000 populations (2. In 23 countries of Asia the rate of epilepsy is the same as USA and Europe. Pharmacotherapy with antiepileptic drugs is the major treatment modality for epilepsy, this could occur as a result of decreased excitation concurrent with increased inhibition (3. Management of epilepsy differs from the treatment of other chronic diseases in which a single breakthrough event has a major negative effect on the quality of life.The past decade has brought many advances to the treatment of epilepsy, including many new pharmacological agents. Lamotrigine is one of the new antiepileptic drugs, which has been used more than two decades. Lamotrigine is effective in partial-onset and secondarily generalized tonic-clonic seizures, primary generalized seizures (i.e., absence seizures and primary generalized tonic-clonic seizures, atypical absence seizures, tonic / atonic seizures and Lennox-Gaustaut syndrome. It is sometimes effective for myoclonic seizures but it can worsen myoclonic seizures in some patients with juvenile myoclonic epilepsy or myoclonic epilepsy of infancy.One of the main advantages of lamotrigine is that it causes less cognitive impairment or overt sedation compared with other treatments (4. An anti-aging effect on animal model in a study has found that lamotrigine decreases mortality and increases lifespan.Lamotrigine has many side effects; the most important ones are allergic reactions, Introducing lamotrigine gradually is one of the keys to reduce the frequency and severity of allergic reactions. Although the incidence of cutaneous reactions to lamotrigine is high, the incidence of serious eruptions such as erythema multiform, Stevens-Johnson syndrome, and toxic epidermal necrolysis is low (5. In this study we evaluated the effects of lamotrigine on epileptic patients

  5. Positron emission tomography in epilepsy

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

  6. Comorbidity of tics and epilepsy in children and adolescents

    N. A. Ermolenko

    2013-12-01

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

  7. Knowledge, attitude, and practice of people toward epilepsy in a South Indian village

    Krishnaiah, Balaji; Alwar, Seenivasan P.; Ranganathan, Lakshmi N.

    2016-01-01

    Introduction: People living with epilepsy continue to suffer from enacted or perceived stigma that is based on myths, misconceptions, and misunderstandings that have persisted for many years. In the last decade, there has been an increase in individual literacy rate and increased access to technology in rural population. However, it is unclear if this has any effect on knowledge, attitude, and practice (KAP) attitude toward epilepsy. Objective: Our primary aim is to evaluate KAP toward epilepsy. In addition, we also estimated the prevalence of stroke and epilepsy in rural South India. Materials and Methods: Using a 14-item questionnaire, we assessed KAP toward epilepsy and identified determinants of inappropriate attitudes toward people with epilepsy and 10-item questionnaires to assess the prevalence of epilepsy and stroke among 500 randomly selected populations in a Pattaravakkam village (Tamil Nadu, India). Results: About 87.7% of the people had heard or read about epilepsy. Negative attitudes appeared to be reinforced by beliefs that epilepsy is hereditary (23.1%), kind of insanity (22.6%), or as contagious (12.0%). The knowledge about the clinical characteristics and first aid to a person during a seizure was 25.8%. About 36.5% of people think that society discriminates people with epilepsy. Moreover, our prevalence study showed that 8.7% people are suffering from epilepsy and 3.7% had stroke previously and at the day of survey, the stroke prevalence is 3.3%. Conclusion: Even with increased literacy, technology, and communication devices, the KAP of people toward epilepsy is relatively low. General public education campaigns and specific school education campaigns children should be encouraged to increase the KAP toward epilepsy. The prevalence and pattern of epilepsy and stroke is on the higher side in the village of Pattaravakkam. Future research regarding the value of targeted education in improving KAP will be worthwhile. PMID:27365954

  8. Genetic causes of congenital brain malformations in epilepsy patients

    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...... 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....

  9. IDENTIFICATION OF EPILEPSY GENES IN HUMAN AND MOUSE*

    Miriam H Meisler; Kearney, Jennifer; Ottman, Ruth; Escayg, Andrew

    2001-01-01

    The development of molecular markers and genomic resources has facilitated the isolation of genes responsible for rare monogenic epilepsies in human and mouse. Many of the identified genes encode ion channels or other components of neuronal signaling. The electrophysiological properties of mutant alleles indicate that neuronal hyperexcitability is one cellular mechanism underlying seizures. Genetic heterogeneity and allelic variability are hallmarks of human epilepsy. For example, mutations i...

  10. Gestational Age, Birth Weight, Intrauterine Growth and Risk for Epilepsy

    Sun, Yuelian; Vestergaard, Mogens; Carsten B Pedersen; Christensen, Jakob; Basso, Olga; Olsen, Jørn

    2007-01-01

    The authors evaluated the association between gestational age, birth weight, intrauterine growth and epilepsy in a population-based cohort of 1.4 million singletons born in Denmark (1979-2002). A total of 14,334 individuals were registered with epilepsy in the Danish National Hospital Register as inpatients (1979-2002) and outpatients (1995-2002). Information on gestational age and birth weight was obtained from Danish Medical Birth Registry. Children small at birth were identified through tw...

  11. Clinical aspects of juvenile myoclonic epilepsy.

    Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G A; Medina, Marco Tulio; Salas-Puig, Javier

    2013-07-01

    Juvenile myoclonic epilepsy (JME) is a recognizable, frequent epileptic syndrome. The most typical ictal phenomenon is bilateral myoclonia without loss of consciousness (M), with most patients also presenting with generalized tonic-clonic seizures (GTCSs) and some with absence seizures (ASs). The most striking features of JME are its onset around the time of puberty and the fact that seizure episodes occur after awakening from a sleep period or in the evening relaxation period and are facilitated by sleep deprivation and sudden arousal. Photic sensitivity is common in the EEG laboratory but uncommon or unrecognized in daily life. The clinical features of JME make it easy to diagnose. In recent years, awareness of JME has increased, and patients are often accurately diagnosed clinically before confirmation by EEG. The typical circumstance at diagnosis is a first GTCS episode, and one learns during the interview that the patient has had M in the morning for some time before the GTCS episode. There are only few differential diagnoses: the adolescent-onset progressive myoclonus epilepsies, or other forms of idiopathic generalized epilepsies of adolescence. With JME being so common, we propose that a first GTCS episode in a teenager should be considered as revealing JME until proven otherwise. PMID:23756488

  12. Nonpharmacological treatment of epilepsy

    V S Saxena; Nadkarni, V. V.

    2011-01-01

    Nonpharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies, e.g., yoga, Ayurveda, electroencephalography (EEG) biofeedback technique, aerobic exercise, music therapy, transcranial magnetic stimulation, acupuncture, and herbal remedies (traditional Chinese medicine). Alternative therapies, despite the term, should not be considered as an alternative to antiepileptic medication; they complement accepted drug ...

  13. 20.5.Epilepsy

    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)

  14. Vigabatrin in childhood epilepsy

    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...

  15. Spect in epilepsy

    In the Federal Republic of Germany it is assumed that about 80 000 patients suffer from a focal form of epilepsy which can not be sufficiently controlled with medication. As potential candidates for surgery, these patients undergo stepwise monitoring procedure in which the epileptic focus is located by means of increasingly invasive methods. In Erlangen the periictal SPECT is performed, whereby the perfusion tracer is injected after onset (ictal SPECT), immediately after cessation of the seizure (postictal scan) or between the seizures (interictal scan). To administer the tracer strongly in ictal or postictal state a close functional cooperation between the neurology and nuclear medicine department must be arranged. Injection inside the monitoring unit must be attuned to federal antiradiation precaution law. In temporal lobe epilepsy, different injection-times demonstrate a large area of hyperperfusion after ictal onset, which refines in the first two postictal minutes to the generating focus together with a decreased parietal blood flow pattern. Later, the entire temporal lobe epilepsy an early tracer injection within 40 seconds has to be achieved, otherwise an ictal propagation into distant brain areas, possibly contralateral, may occur. Extratemporal epilepsy is often linked to trauma or congenital malformations, and is difficult to categorize. In difficult cases with equivocal results, efforts can be undertaken by means of receptor scintigraphy with, for example, iomazenil, to localize the focus as a cold lesion caused by neuronal loss. (orig.)

  16. Mobile EEG in epilepsy

    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

  17. Dreams and epilepsy.

    Reami, D O; Silva, D F; Albuquerque, M; Campos, C J

    1991-01-01

    The relationship between dreams and epilepsy is illustrated by two patients whose awake epileptic seizures and recurrent dreams during night sleep had similar content. In both of our cases the EEG showed right anterior temporal spike discharge, suggesting a role for the temporal lobe in the association between dreams and seizures. PMID:1985830

  18. Vigabatrin in childhood epilepsy

    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 ...

  19. Personality characteristics and epilepsy

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

    1989-01-01

    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. Mitochondrial dysfunction in epilepsy

    Folbergrová, Jaroslava; Kunz, W.S.

    2012-01-01

    Roč. 12, č. 1 (2012), s. 35-40. ISSN 1567-7249 R&D Projects: GA ČR(CZ) GA309/05/2015; GA ČR GA309/08/0292 Institutional research plan: CEZ:AV0Z50110509 Keywords : epilepsy * mitochondrial dysfunction * neurodegeneration Subject RIV: FH - Neurology Impact factor: 4.025, year: 2012

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

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

  2. Canine epilepsy as a translational model?

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

    2013-04-01

    Dogs with spontaneous diseases can exhibit a striking similarity in etiology, clinical manifestation, and disease course when compared to human patients. Therefore, dogs are intensely discussed as a translational model of human disease. In particular, genetic studies in selected dog breeds serve as an excellent tool to identify epilepsy disease genes. In addition, canine epilepsy is discussed as a translational platform for drug testing. On one hand, epileptic dogs might serve as an interesting model by allowing the evaluation of drug efficacy and potency under clinical conditions with a focus on chronic seizures resistant to standard medication, preventive strategies, or status epilepticus. On the other hand, several limitations need to be considered including owner-based seizure monitoring, species differences in pharmacokinetics and drug interactions, as well as cost-intensiveness. The review gives an overview on the current state of knowledge regarding the etiology, clinical manifestation, pathology, and drug response of canine epilepsy, also pointing out the urgent need for further research on specific aspects. Moreover, the putative advantages, the disadvantages, and limitations of antiepileptic drug testing in canine epilepsy are critically discussed. PMID:23506100

  3. Preeclampsia and risk for epilepsy in offspring

    Wu, Chunsen; Sun, Yuelian; Vestergaard, Mogens;

    2008-01-01

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

  4. Calcium ion channel and epilepsy

    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

  5. Astrocyte control of synaptic NMDA receptors contributes to the progressive development of temporal lobe epilepsy

    Clasadonte, Jerome; Dong, Jinghui; Hines, Dustin J.; Haydon, Philip G.

    2013-01-01

    Temporal lobe epilepsy (TLE) is a chronic brain disorder characterized by the occurrence of spontaneous recurrent seizures. Much of our knowledge of epilepsy is based on how neurons contribute to this disorder. Here we provide a view in which glial cells (astrocytes) contribute to the progressive development of TLE. We have combined a model of epilepsy that more closely mimics the complex features of seizures in epileptic patients, with astrocyte-specific molecular genetics to identify how as...

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

    2014-01-01

    Summary Background The epilepsies are a clinically heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsy, probably because of relatively small sample sizes and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilep...

  7. Prevalence of Treated Epilepsy in Korea Based on National Health Insurance Data

    Lee, Seo-Young; Jung, Ki-Young; Lee, Il Keun; Yi, Sang Do; Cho, Yong Won; Kim, Dong Wook; Hwang, Seung-Sik; Kim, Sejin; ,

    2012-01-01

    The Korean national health security system covers the entire population and all medical facilities. We aimed to estimate epilepsy prevalence, anticonvulsant utilization pattern and the cost. We identified prevalent epilepsy patients by the prescription of anticonvulsants under the diagnostic codes suggesting seizure or epilepsy from 2007 Korean National Health Insurance databases. The information of demography, residential area, the kind of medical security service reflecting economic status,...

  8. Genetics Home Reference: Lafora progressive myoclonus epilepsy

    ... 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 ( ...

  9. Epilepsy - what to ask your doctor - child

    ... 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 ...

  10. Epilepsy - what to ask your doctor - adult

    ... this page: //medlineplus.gov/ency/patientinstructions/000221.htm Epilepsy - what to ask your doctor - adult To use ... on this page, please enable JavaScript. You have epilepsy. People with epilepsy have seizures. A seizure is ...

  11. Genetics Home Reference: pyridoxine-dependent epilepsy

    ... 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 ...

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

    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.

  13. Management of epilepsy in elderly

    Harsono Harsono

    2003-03-01

    Full Text Available Management of epilepsy in elderly requires understanding the unique biochemical and pharmacological characteristics of these patients. Management decisions must be based on accurate classification of seizures or epilepsy syndromes, a thorough neurological assessment to define etiology, and a comprehensive assessment of the patient’s health and living situation. Concomitant illnesses such as neurological, psychiatric, metabolic, or cardiac disorders will require individualization of plans and instructions. Specific problems of treatment of epilepsy in the elderly compared to childhood patients are as follows: distinctive range of causes of epilepsy, distinctive differential diagnosis, concurrent pathologies unrelated to epilepsy, pharmacokinetic and pharmacodynamic differences, and distinctive psychosocial effects. (Med J Indones 2003; 12: 40-7 Keywords:  epilepsy, elderly, management, concomitant illness, pharmacokinetic

  14. Diagnostic imaging in focal epilepsy

    Focal epilepsies account for 60% of all seizure disorders worldwide. In this review the classic and new classification system of epileptic seizures and syndromes as well as genetic forms are discussed. Magnetic resonance (MR) is the technique of choice for diagnostic imaging in focal epilepsy because of its sensitivity and high tissue contrast. The review is focused on the lack of consensus of imaging protocols and reported findings in refractory epilepsy. The most frequently encountered MRI findings in epilepsy are reported and their imaging characteristics are depicted. Diagnosis of hippocampal sclerosis and malformations of cortical development as two major causes of refractory focal epilepsy is described in details. Some promising new techniques as positron emission tomography computed tomography (PET/CT) and MR and PET/CT fusion are briefly discussed. Also the relevance of adequate imaging in focal epilepsy, some practical points in imaging interpretation and differential diagnosis are highlighted. (author)

  15. Confronting the stigma of epilepsy

    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.

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

    Aria Fallah

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

  17. Towards precision medicine in epilepsy surgery.

    Jin, Pingping; Wu, Dongyan; Li, Xiaoxuan; Ren, Liankun; Wang, Yuping

    2016-01-01

    Up to a third of all patients with epilepsy are refractory to medical therapy even in the context of the introduction of new antiepileptic drugs (AEDs) with considerable advantages in safety and tolerability over the last two decades. It has been widely accepted that epilepsy surgery is a highly effective therapeutic option in a selected subset of patients with refractory focal seizure. There is no doubt that accurate localization of the epileptogenic zone (EZ) is crucial to the success of resection surgery for intractable epilepsy. The pre-surgical evaluation requires a multimodality approach wherein each modality provides unique and complimentary information. Accurate localization of EZ still remains challenging, especially in patients with normal features on MRI. Whereas substantial progress has been made in the methods of pre-surgical assessment in recent years, which widened the applicability of surgical treatment for children and adults with refractory seizure. Advances in neuroimaging including voxel-based morphometric MRI analysis, multimodality techniques and computer-aided subtraction ictal SPECT co-registered to MRI have improved our ability to identify subtle structural and metabolic lesions causing focal seizure. Considerable observations from animal model with epilepsy and pre-surgical patients have consistently found a strong correlation between high frequency oscillations (HFOs) and epileptogenic brain tissue that suggest HFOs could be a potential biomarker of EZ. Since SEEG emphasizes the importance to study the spatiotemporal dynamics of seizure discharges, accounting for the dynamic, multidirectional spatiotemporal organization of the ictal discharges, it has greatly deep our understanding of the anatomo-electro-clinical profile of seizure. In this review, we focus on some state-of-the-art pre-surgical investigations that contribute to the precision medicine. Furthermore, advances also provide opportunity to achieve the minimal side effects and

  18. Neuroimaging of Epilepsy: Therapeutic Implications

    Kuzniecky, Ruben I.

    2005-01-01

    Summary: Neuroimaging has important applications in the diagnosis and treatment of patients with seizures and epilepsy. Having replaced computed tomography (CT) in many situations, MRI is the preferred imaging technique for patients with epilepsy. Advances in radionuclide-based techniques such as single-photon emission CT/positron emission tomography and electromagnetic source imaging with magnetoencephalography are providing new insights into the pathophysiology of epilepsy. In addition, tec...

  19. Temporal lobe epilepsy in children

    Jayanti Mani

    2008-01-01

    Full Text Available Temporal lobe epilepsy is a fairly homogenous syndrome in adults, with hippocampal sclerosis being the commonest etiology. In children, temporal lobe epilepsy is more commonly due to cortical dysplasia or tumors. The semiology and electrophysiology of temporal lobe seizures in children are distinct from adults and have age-dependent variations. The first-line treatment option in children includes antiepileptic drugs. Ketogenic diet and surgery are therapeutic options in refractory pediatric temporal lobe epilepsy.

  20. Psychiatric Aspects of Childhood Epilepsy

    Pattanayak, Raman Deep; Sagar, Rajesh

    2012-01-01

    How to Cite this Article: Pattanayak RD, Sagar R. Psychiatric Aspects of Childhood Epilepsy. Iran J Child Neurol 2012;6(2):9-18.Childhood epilepsy is a chronic, recurrent disorder of unprovoked seizures. Theonset of epilepsy in childhood has significant implications for brain growth anddevelopment. Seizures may impair the ongoing neurodevelopmental processes and compromise the child’s intellectual and cognitive functioning, leading totremendous cognitive, behavioral and psychosocial consequen...

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

    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.

  2. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

    Nabbout, R; Soufflet, C; Plouin, P; Dulac, O

    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...

  3. Epilepsie u psů

    Čechová, Aneta

    2013-01-01

    Epilepsy is one of the most common neurological disorders in dogs. It is manifested in the form of repeated seizures which arise by irritation of brain. Epilepsy can be caused by brain damage, but more often we meet with hereditary character of the disease with so-called idiopathic epilepsy. Idiopathic epilepsy can not be cured, only reduced. Therapy is for life, in the form of regular use of human anti – epileptics. In recent years the interest in this disease rises, because the...

  4. [Dietary therapy of epilepsy].

    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. PMID:24912289

  5. Rolandic epilepsy and dyslexia

    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.

  6. Burns and epilepsy.

    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. PMID:9212488

  7. Impaired Consciousness in Epilepsy

    Blumenfeld, Hal

    2012-01-01

    Consciousness is essential to normal human life. In epileptic seizures consciousness is often transiently lost making it impossible for the individual to experience or respond. This has huge consequences for safety, productivity, emotional health and quality of life. To prevent impaired consciousness in epilepsy it is necessary to understand the mechanisms leading to brain dysfunction during seizures. Normally the “consciousness system”—a specialized set of cortical-subcortical structures—mai...

  8. Dietary Therapies for Epilepsy

    Kossoff, Eric H.; Huei-Shyong Wang

    2013-01-01

    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 f...

  9. Neuroreceptor imaging in epilepsy

    The neurochemical processes that mediate seizures in humans are not fully understood. PET has contributed to our understanding of the neurochemical abnormalities of epilepsy with studies of cerebral metabolism and, more recently, regional neuroreceptor binding. We have focused on inhibitory neurotransmitter receptors that may (1) be decreased, thus facilitating seizure initiation, or (2) increase in response to seizure activity. Opiate receptors are believed to mediate anticonvulsant effects of the endogenous opioids. Accordingly, [11 C]carfentanil, a ligand selective for the mu-opiate receptor, displays increased binding in temporal neocortex ipsilateral to seizure foci in complex partial epilepsy. This finding is consistent with activation of the endogenous opiate system in response to seizure activity. [11C]diprenorphine, a ligand that labels mu-, delta- and kappa-opiate receptors with equal affinity, shows little or no change in temporal cortex. Together, these findings suggest a decrease in delta- or kappa-receptors. The development of delta- and kappa-selective receptor ligands will help to elucidate the involvement of these opiate receptors in human epilepsy. The benzodiazepine-GABA receptor complex is the most prevalent in mediating inhibitory brain processes. Use of the benzodiazepine (BZD) receptor ligand [11C]RO 15-1788 has shown decreases in BZD receptors in human epilepsy in one study, but this has not been observed in a current study. Thus, the existence of reduced inhibitory processes that might enhance seizure initiation remains uncertain at present. Future studies of receptors for excitatory transmitters will provide additional insight into alternate factors potentially responsible for the initiation of seizures

  10. Mortality and causes of death in children referred to a tertiary epilepsy center

    Grønborg, Sabine; Uldall, Peter

    2014-01-01

    BACKGROUND: Patients with epilepsy, including children, have an increased mortality rate when compared to the general population. Only few studies on causes of mortality in childhood epilepsy exist and pediatric SUDEP rate is under continuous discussion. AIM: To describe general mortality......, incidence of sudden unexpected death in epilepsy (SUDEP), causes of death and age distribution in a pediatric epilepsy patient population. METHODS: The study retrospectively examined the mortality and causes of death in 1974 patients with childhood-onset epilepsy at a tertiary epilepsy center in Denmark...... over a period of 9 years. Cases of death were identified through their unique civil registration number. Information from death certificates, autopsy reports and medical notes were collected. RESULTS: 2.2% (n = 43) of the patient cohort died during the study period. This includes 9 patients with SUDEP...

  11. Dietary Therapies for Epilepsy

    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.

  12. Nonpharmacological treatment of epilepsy

    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.

  13. [Epilepsy and Canon Law].

    Bonduelle, M

    1987-01-01

    The Canon Law (Codex Iuris Canonici), promulgated in 1917, was a classification of laws and jurisprudence which ruled the early Church, governed the ecclesiastical condition of Roman Church until its reorganisation in 1983. It forbade to be ordained or to exercise orders already received to "those who are or were epileptics either not quite in their right mind or possessed by the Evil One". All the context and in particular the paragraph which treated of bodily lacks, indicated that between these three conditions, there was juxtaposition and no confusion. The texts specified the foundations of these dispositions, not in a malefic view of epilepsy inherited from Morbus Sacer of Antiquity, but in decency and on account of risk incured by Eucharist in case of fit. Some derogations could attenuate the severity of these dispositions--as jurisprudence had taken progresses of Epileptology and therapeutics into consideration. In the new Code of Canon Law (1983) physical disabilities were removed from the text and also possessed evil and epilepsy, the only impediment being "insanity or other psychic defect" appreciation of which is done by experts. Concerning poorly controlled epilepsies, we believe that experts will be allowed to express their opinion and a new jurisprudence will make up for the silence of the law. PMID:3310183

  14. Purinergic signaling in epilepsy.

    Rassendren, François; Audinat, Etienne

    2016-09-01

    Until recently, analysis of the mechanisms underlying epilepsy was centered on neuron dysfunctions. Accordingly, most of the available pharmacological treatments aim at reducing neuronal excitation or at potentiating neuronal inhibition. These therapeutic options can lead to obvious secondary effects, and, moreover, seizures cannot be controlled by any known medication in one-third of the patients. A purely neurocentric view of brain functions and dysfunctions has been seriously questioned during the past 2 decades because of the accumulation of experimental data showing the functional importance of reciprocal interactions between glial cells and neurons. In the case of epilepsy, our current knowledge of the human disease and analysis of animal models clearly favor the involvement of astrocytes and microglial cells during the progression of the disease, including at very early stages, opening the way to the identification of new therapeutic targets. Purinergic signaling is a fundamental feature of neuron-glia interactions, and increasing evidence indicates that modifications of this pathway contribute to the functional remodeling of the epileptic brain. This Review discusses the recent experimental results indicating the roles of astrocytic and microglial P2X and P2Y receptors in epilepsy. © 2016 Wiley Periodicals, Inc. PMID:27302739

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

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

    2014-07-01

    The abilities to identify facial expression from another person's face and to attribute mental states to others refer to preserved function of the temporal lobes. In the present study, we set out to evaluate emotion recognition and social cognition in presurgical and postsurgical patients with unilateral refractory temporal lobe epilepsy (TLE). The aim of our study was to investigate the effects of TLE surgery and to identify the main risk factors for impairment in these functions. We recruited 30 patients with TLE for longitudinal data analysis (14 with right-sided and 16 with left-sided TLE) and 74 patients for cross-sectional data analysis (37 with right-sided and 37 with left-sided TLE) plus 20 healthy controls. Besides standard neuropsychological assessment, we administered an analog of the Ekman and Friesen test and the Faux Pas Test to assess emotion recognition and social cognition, respectively. Both emotion recognition and social cognition were impaired in the group of patients with TLE, irrespective of the focus side, compared with healthy controls. The performance in both tests was strongly dependent on the intelligence level. Beyond intelligence level, earlier age at epilepsy onset, longer disease duration, and history of early childhood brain injury predicted social cognition problems in patients with TLE. Epilepsy surgery within the temporal lobe seems to have neutral effect on patients' performances in both domains. However, there are a few individual patients who appear to be at risk of postoperative decline, even when seizure freedom is achieved following epilepsy surgery. PMID:24892754

  16. Understanding of Epilepsy by Children and Young People with Epilepsy

    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…

  17. Focal epilepsies in adult patients attending two epilepsy centers

    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 observed...... consecutively after 1990 and followed regularly at two epilepsy centers. We systematically collected the clinical, diagnostic, and therapeutic data using a custom-written database. We classified the patients as seizure-free or AED resistant according to the International League Against Epilepsy (ILAE) criteria...... the 729 patients with symptomatic focal epilepsies and was positively associated with electroencephalography (EEG) abnormalities, seizure type, and the presence of mesial temporal sclerosis. Among 426 patients without detectable causes, the percentage of AED resistance was significantly lower (39...

  18. Persons with Epilepsy: Between Social Inclusion and Marginalisation

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

    2016-01-01

    Background. Epilepsy is a chronic neurological disorder that can lead to complex psychosocial consequences. Epilepsy can change the social status of persons with epilepsy (PWE) and has an effect on their social inclusion as well as their perception of social inclusion. This study aims to explore subjective experiences with social inclusion of PWE in Slovenia. Methods. This study takes a qualitative approach. Eleven semistructured interviews were conducted with eleven participants. Interviews were analysed using thematic analysis. Results. Epilepsy has physical, emotional, and social consequences. Physical consequences of epilepsy are mainly tiredness and exhaustion following an epileptic episode, frequently accompanied by headaches. Emotional consequences are different forms of fear. The main social consequence identified is a negative effect on PWE's social network, which leads to (self-)isolation and social distrust. Conclusion. PWE experience of social inclusion depends on various psychosocial factors and differs from person to person. The consequences of epilepsy are shown in PWE social contacts and their sense of social inclusion and autonomy. PMID:27212802

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

    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.

  20. The Pharmacological Basis of Cannabis Therapy for Epilepsy.

    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. PMID:26787773

  1. Epilepsy audit: do we document everything?

    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.

  2. The quest for juvenile myoclonic epilepsy genes.

    Delgado-Escueta, Antonio V; Koeleman, Bobby P C; Bailey, Julia N; Medina, Marco T; Durón, Reyna M

    2013-07-01

    Introduced into a specific population, a juvenile myoclonic epilepsy (JME) mutation generates linkage disequilibrium (LD). Linkage disequilibrium is strongest when the JME mutation is of recent origin, still "hitchhiking" alleles surrounding it, as a haplotype into the next thousands of generations. Recombinations decay LD over tens of thousands of generations causing JME alleles to produce smaller genetic displacements, requiring other genes or environment to produce an epilepsy phenotype. Family-based linkage analysis captures rare epilepsy alleles and their "hitchhiking" haplotypes, transmitted as Mendelian traits, supporting the common disease/multiple rare allele model. Genome-wide association studies identify JME alleles whose linkage disequilibrium has decayed through thousands of generations and are sorting out the common disease/common allele versus rare allele models. Five Mendelian JME genes have been identified, namely, CACNB4, CASR, GABRa1, GABRD, and Myoclonin1/EFHC1. Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to JME. PMID:23756480

  3. Partial Epilepsy with Auditory Features

    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.

  4. Electroencephalography in dogs with epilepsy

    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....

  5. The Mozart Effect and Epilepsy

    J Gordon Millichap

    2011-01-01

    Researchers at Kaohsiung Medical University and other centers in Taiwan studied the long-term effect of listening to Mozart K-448 (Sonata for Two Pianos in D major) on the frequency of epileptiform discharges in children with epilepsy, and analyzed the relationship between the number of epileptiform discharges and foci of origin, epilepsy etiology, age, IQ, and gender.

  6. Headache and school absence.

    Collin, C; Hockaday, J M; Waters, W E

    1985-01-01

    The amount of time missed from school in two small town school populations was estimated by measuring absence from school and attendance at sickbay, and stated causes were analysed. School absence related to headache (expressed as percentage of pupil days missed out of possible pupil days, during two 12 week periods) in children aged 5 to 14 years, was 0.05%. This represented approximately 1% of all school absence, and was recorded (usually only once) in 3.7% of children. The duration of abse...

  7. 38 CFR 4.122 - Psychomotor epilepsy.

    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)...

  8. The social and economic consequences of epilepsy

    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....

  9. Photodynamic therapy for epilepsy

    Zusman, Edie; Sidhu, Manpreet; Coon, Valerie; Scott, Nicholas; Bisland, Stuart; Tsukamoto, Tara

    2006-02-01

    Epilepsy is surgically curable if the seizure focus can be localized and does not include areas of eloquent cortex. Because epileptic cells are indistinct from surrounding brain, resection typically includes normal tissue. Using the rat kindling model of epilepsy, we evaluated Photodynamic Therapy (PDT) as a super-selective lesioning technique. We present a series of pilot studies to evaluate: 1) Protoporphyrin IX (PpIX) fluorescence, 2) the efficacy of PDT to raise seizure thresholds, 3) the safety of PDT using behavioral studies, and 4) histologic results. Bipolar electrodes were chronically implanted into the cortex and animals received successive low-level stimulation generating seizures of increasing severity. Following 5-aminolevulinic acid (ALA) administration, fully kindled rats received electrical stimulation to induce a generalized seizure. Animals were irradiated with laser light focused onto a temporal craniectomy. Our results show: 1) an increase in PpIX fluorescence in the seizure group, 2) PDT treated animals failed to demonstrate seizure activity following repeat stimulation, 3) no statistically significant difference between treated and control animals were observed on behavioral tests, 4) histology showed pyknotic hippocampal pyramidal cells in the CA3 region without areas of obvious necrosis. In conclusion, this is the first report of heightened PpIX-mediated fluorescence in epileptic brain. The selective accumulation of PpIX with laser PDT may provide a less invasive and more precise technique for obliteration of epileptic foci. PDT warrants additional research to determine if this technique may augment or replace existing procedures for the surgical management of epilepsy.

  10. Epilepsie und psychiatrische Erkrankungen

    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.

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

    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.

  12. Epilepsy and anxiety

    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.

  13. Identification of common predictors of surgical outcomes for epilepsy surgery

    Zhang J

    2013-11-01

    Full Text Available Jing Zhang,1 Weifang Liu,1 Hui Chen,1 Hong Xia,1 Zhen Zhou,1 Shanshan Mei,2 Qingzhu Liu,2 Yunlin Li21School of Biomedical Engineering, Capital Medical University, 2Department of Functional Neurology and Neurosurgery, Beijing Haidian Hospital, Beijing, People's Republic of ChinaAbstract: Although epilepsy surgery is an effective treatment for patients with drug-resistant epilepsy, surgical outcomes vary across patient groups and studies. Identification of reliable prognostic factors for surgical outcome is important for outcome research. In this study, recent systematic reviews and meta-analyses on prediction of seizure outcome have been analyzed, and common predictors of seizure outcome or unrelated factors for temporal lobe epilepsy (TLE, lesional extratemporal lobe epilepsy (ETLE, and tuberous sclerosis complex have been identified. Clinical factors such as lesional epilepsy, abnormal magnetic resonance imaging, partial seizures, and complete resection were found to be common positive predictors, and factors such as nonlesional epilepsy, poorly defined and localized epileptic focus, generalized seizures, and incomplete resection are common negative predictors, while factors such as age at surgery and side of surgery are unrelated to seizure outcome for TLE and lesional ETLE. In addition, diagnostic neuroimaging and resection are among the most important predictors of seizure outcome. However, common predictors of seizure outcome could not be identified in nonlesional ETLE because no predictors were found to be significant in adult patients (by meta-analysis, and outcome prediction is difficult in this case. Meta-analysis of other outcomes, such as neuropsychologic outcomes, is rare due to lack of evaluation standards. Further studies on identification of reliable predictors of surgical outcomes are needed.Keywords: neuroimaging, epilepsy surgery, outcome prediction, common predictors

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

    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.

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

    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.

  16. Video electroencephalogram telemetry in temporal lobe epilepsy

    Jayanti Mani

    2014-01-01

    Temporal lobe epilepsy (TLE) is the most commonly encountered medically refractory epilepsy. It is also the substrate of refractory epilepsy that gives the most gratifying results in any epilepsy surgery program, with a minimum use of resources. Correlation of clinical behavior and the ictal patterns during ictal behavior is mandatory for success at epilepsy surgery. Video electroencephalogram (EEG) telemetry achieves this goal and hence plays a pivotal role in pre-surgical assessment. The ro...

  17. Electrophysiology in epilepsy surgery: Roles and limitations

    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.

  18. Emerging Antiepileptic Drugs for Severe Pediatric Epilepsies.

    Mudigoudar, Basanagoud; Weatherspoon, Sarah; Wheless, James W

    2016-05-01

    The medical management of the epilepsy syndromes of early childhood (eg, infantile spasms, Dravet syndrome, and Lennox-Gastaut syndrome) is challenging; and requires careful evaluation, classification, and treatment. Pharmacologic therapy continues to be the mainstay of management for these children, and as such it is important for the clinician to be familiar with the role of new antiepileptic drugs. This article reports the clinical trial data and personal experience in treating the severe epilepsies of childhood with the recently Food and Drug Administration-approved new antiepileptic drugs (vigabatrin, rufinamide, perampanel, and clobazam) and those in clinical trials (cannabidiol, stiripentol, and fenfluramine). Genetic research has also identified an increasing number of pediatric developmental and seizure disorders that are possibly treatable with targeted drug therapies, focused on correcting underlying neural dysfunction. We highlight recent genetic advances, and how they affect our treatment of some of the genetic epilepsies, and speculate on the use of targeted genetic treatment (precision medicine) in the future. PMID:27544474

  19. Neuro-pharmacological functional MRI of epilepsy

    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)

  20. Fractionated stereotactically guided radiotherapy for pharmacoresistant epilepsy

    Aim: This prospective study evaluated the efficiency of fractionated stereotactically guided radiotherapy as a treatment of pharmacoresistant temporal lobe epilepsy. Patients and Methods: Inclusion criteria were patients aged between 17 and 65 years with one-sided temporally located focus, without sufficient epilepsy control by, antiepileptic drugs or neurosurgery. Between 1997 and 1999, two groups of six patients each were treated with 21 Gy (7 times 3 Gy) and 30 Gy (15 times 2 Gy). Study end points were seizure frequency, intensity, seizure length and neuropsychological parameters. Results: All patients experienced a marked reduction in seizure frequency. The mean reduction of seizures was 37% (range 9-77%, i.e. seizures reduced from a monthly mean number of 11.75 to 7.52) at 18 months following radiation treatment and 46% (23-94%, i.e. 0.2-23 seizures per month) during the whole follow-up time. Seizure length was reduced in five out of eleven patients and intensity of seizures in seven out of eleven patients. Conclusion: Radiotherapy was identified as safe and effective for pharmacoresistant epilepsy since a very good reduction of seizure frequency was observed. It is no substitute for regular use of antiepileptic drugs, but means an appropriate alternative for patients with contraindication against neurosurgery or insufficient seizure reduction after neurosurgery. (orig.)

  1. Epilepsy care in general practice.

    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.

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

    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

  3. Managing epilepsy in pregnancy

    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.

  4. Progressive myoclonic epilepsy.

    Satishchandra, P; Sinha, S

    2010-01-01

    Progressive myoclonic epilepsy (PME) is a disease complex and is characterized by the development of relentlessly progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. It encompasses different diagnostic entities and the common causes include Lafora body disease, neuronal ceroid lipofuscinoses, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber (MERRF) syndrome, sialidoses, dentato-rubro-pallidal atrophy, storage diseases, and some of the inborn errors of metabolism, among others. Recent advances in this area have clarified molecular genetic basis, biological basis, and natural history, and also provided a rational approach to the diagnosis. Most of the large studies related to PME are from south India from a single center, National Institute of Mental Health and Neurological Sciences (NIMHANS), Bangalore. However, there are a few case reports and small series about Lafora body disease, neuronal ceroid lipofuscinoses and MERRF from India. We review the clinical and research experience of a cohort of PME patients evaluated at NIMHANS over the last two decades, especially the phenotypic, electrophysiologic, pathologic, and genetic aspects. PMID:20739785

  5. Progressive myoclonic epilepsy

    Satishchandra P

    2010-01-01

    Full Text Available Progressive myoclonic epilepsy (PME is a disease complex and is characterized by the development of relentlessly progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. It encompasses different diagnostic entities and the common causes include Lafora body disease, neuronal ceroid lipofuscinoses, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber (MERRF syndrome, sialidoses, dentato-rubro-pallidal atrophy, storage diseases, and some of the inborn errors of metabolism, among others. Recent advances in this area have clarified molecular genetic basis, biological basis, and natural history, and also provided a rational approach to the diagnosis. Most of the large studies related to PME are from south India from a single center, National Institute of Mental Health and Neurological Sciences (NIMHANS, Bangalore. However, there are a few case reports and small series about Lafora body disease, neuronal ceroid lipofuscinoses and MERRF from India. We review the clinical and research experience of a cohort of PME patients evaluated at NIMHANS over the last two decades, especially the phenotypic, electrophysiologic, pathologic, and genetic aspects.

  6. SPECT in Focal Epilepsies

    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. Epilepsy and sports.

    van Linschoten, R; Backx, F J; Mulder, O G; Meinardi, H

    1990-07-01

    Millions of healthy people participate in sport on a regular basis. Moreover, in the last decade patients with chronic disorders have been encouraged to take part in sporting activities as a part of their rehabilitation. Can epileptic patients freely participate in sport or whether they are restricted to a certain extent by their disorder? An important factor is freedom from seizures. If seizures have been controlled for over 2 years the risk of relapse is the same as the risk of a first seizure. The risk of patients drowning or falling, or their epilepsy worsening because they are engaged in sport is thought to be low. Clinical data suggest that the incidence of seizures during sports and exercise is reduced. In the cooling down period, however, seizures tend to occur more frequently. Physicians should encourage epileptic patients to participate in sporting activities to enhance their physical fitness, self-esteem, and social integration. Before giving advice about the most suitable type of sport, the physician should known the patient's medical history, have a good insight into the different types of sport and be able to judge the role and function of sport to the particular patient. With certain precautions virtually all sports are suitable for most epileptic patients and should therefore be encouraged. However, a small minority of hospitalised patients with severe epilepsy need the supervision of qualified trainers, coaches and volunteers. PMID:2197701

  8. Radiological diagnosis in epilepsy

    Results: Hippocampal sclerosis, the most frequent cause of focal epilepsy, can be detected with 90-98% sensitivity by visual analysis and quantitative signal and volume measurement of the hippocampi in high-resolution coronal T2-weighted MR images. Benign tumors, such as gangliogliomas and dysembryoplastic neuoepithelial tumors (DNT), as well as cortical dysplasias are frequently composed of cystic and solid parts, which may show calcification, but never edema. Bloodbrain-barrier disruption as seen in approximately 40% of the benign tumors are the only feature that allows to differentiate them from non-neoplastic dysplasias. In rare cases of totally calcified lesions, CT may be the only diagnostic imaging modality. Proton-density-weighted or FLAIR imaging is essential for the detection of small solid cortical lesion components, because they provide sufficient contrast with adjacent CSF. T1-weighted inversion recovery images are most sensitive for the detection of migration and gyration abnormalities. The depiction of calcified lesions and hemosiderin deposits after trauma is most efficient with T2* weighted gradient echo sequences. Conclusions: With further rapid improvent of high resolution MRI techniques, the near future will probably show that nearly 100% of focal epilepsies are caused by structural brain abnormalities. With refined imaging techniques applied, the sensitivity of neuroradiological evaluation is 90% at present. Therefore presurgical MRI plays a key role in epilespy surgery. (orig.)

  9. Structural abnormalities of the thalamus in juvenile myoclonic epilepsy.

    Mory, Susana Barreto; Betting, Luiz E; Fernandes, Paula T; Lopes-Cendes, Iscia; Guerreiro, Marilisa M; Guerreiro, Carlos A M; Cendes, Fernando; Li, Li M

    2011-08-01

    Studies have suggested that the thalamus is a key structure in the pathophysiology of juvenile myoclonic epilepsy. The objective of the present investigation was to examine the thalami of patients with juvenile myoclonic epilepsy using a combination of multiple structural neuroimaging modalities. The association between these techniques may reveal the mechanisms underlying juvenile myoclonic epilepsy and help to identify the neuroanatomical structures involved. Twenty-one patients with juvenile myoclonic epilepsy (13 women, mean age=30±9 years) and a control group of 20 healthy individuals (10 women, mean age=31±8 years) underwent MRI in a 2-T scanner. The volumetric three-dimensional sequence was used for structural investigation. Evaluation of the thalamus comprised voxel-based morphometry, automatic volumetry, and shape analysis. Comparisons were performed between patient and control groups. Voxel-based morphometry analysis identified areas of atrophy located in the anterior portion of the thalamus. Post hoc analysis of automatic volumetry did not reveal significant differences between the groups. Shape analysis disclosed differences between patients and controls in the anterior and inferior portions of the right thalamus and in the anterior portion of the left thalamus. The present investigation confirms that thalami of patients with juvenile myoclonic epilepsy are structurally abnormal with impairments located mainly in the anterior and inferior sections. PMID:21700499

  10. WONOEP appraisal: new genetic approaches to study epilepsy.

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

    2014-08-01

    New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming, and optogenetic manipulations within epileptic networks are progressively unraveling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiologic effects of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy (WONOEP 2013) in Quebec, Canada. Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and has revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knock-down approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type-specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. In addition, genetically encoded cell-type labeling is providing new means to assess the role of the nonneuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and noncoding

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

    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. PMID:17966891

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

    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...... 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......Background: The level of absence is higher in the public sector than in the private sector both internationally and in a Danish context (e.g. The Confederation of Danish Employers, 2002, Winkelmann, 1999). However, little economic research is conducted to understand determinants of absence among...

  13. Modern management of juvenile myoclonic epilepsy.

    Brodie, Martin J

    2016-06-01

    Juvenile myoclonic epilepsy (JME) is a common genetic epilepsy syndrome usually presenting in adolescence and characterized by myoclonic jerks, predominately in the arms, associated with tonic-clonic seizures and less often generalized absences. Although the evidence base for treating JME is weak, most experts regard sodium valproate as drug of first choice. The recent diktat from the European regulatory agency - recommending that sodium valproate should not be prescribed to female children, adolescents or women of childbearing potential unless other treatments were ineffective or not tolerated - has substantially changed the way JME is being managed in this population. This paper reviews the literature underpinning the pharmacological treatment of JME. Data reporting associated symptoms of frontal lobe dysfunction in some patients with JME are discussed, as is the importance of counselling on lifestyle issues as an essential component of management. Long-term studies examining pharmacological and quality-of-life outcomes are reviewed, indicating a range of different phenotypes and likely genotypes underpinning this fascinating disorder. Lastly, a practical approach to managing JME in young men and women is summarized. PMID:27082040

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

    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 6-16years), 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. PMID:26900774

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

    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. PMID:23304354

  16. Integrative analysis of gene expression associated with epilepsy in human epilepsy and animal models.

    Chen, Hengling; Xu, Guozheng; Du, Hao; Yi, Minhan; Li, Chenhong

    2016-06-01

    Epilepsy is a severe neuropsychiatric disorder, the cause of which remains to be elucidated. Genome‑wide association studies, DNA microarrays and proteomes have been widely applied to identify the candidate genes involved in epileptogenesis, and integrative analyses are often capable of extracting more detailed biological information from the data. In the present study, a total number of 1,065 genes in different animal models were collected to construct an epilepsy candidate gene database. Further analyses suggested that the response to organic substances, the intracellular signaling cascade and neurological system processes were significantly enriched biological processes, and the mitogen-activated protein kinase pathway was identified as a putative epileptogenic signaling pathway. In addition, the five key genes, growth factor receptor bound 2, amyloid β (A4) precursor protein, transforming growth factor‑β, vascular endothelial growth factor and cyclin‑dependent kinase inhibitor 1, were identified as being critical as central nodes in the protein networks. Reverse transcription‑quantitative polymerase chain reaction analysis revealed that these genes were all upregulated at the mRNA level in the epileptic loci compared with the resection margin of tissue samples from the same patients diagnosed with epilepsy. The data mining performed in the present study thus was shown to be a useful tool, which may contribute to obtaining further information on epileptic disorders and delineating the molecular mechanism of the associated genes. PMID:27081788

  17. Congenital Absence of Tibia

    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

  18. Coping and sickness absence

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

    2008-01-01

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

  19. Absence of seizures in Rasmussen encephalitis with active inflammation.

    Samanta, Debopam; Gokden, Murat; Albert, Gregory W

    2016-06-01

    Severe focal motor epilepsy is considered a clinical hallmark of Rasmussen encephalitis (RE). The authors report a 6-year-old girl with progressive right sided hemiparesis, loss of language skills, left sided hemispheric atrophy, and brain pathologic features characteristic for RE. The patient did not experience seizures over a 2year period after symptom onset and for several months during follow-up. This report expands the clinical spectrum of RE and suggests that seizures are not a universal symptom of RE. Our patient's quite remarkable neurologic deficits along with active inflammation in the absence of epilepsy supports that, at least in some individuals, unilateral hemispheric progressive inflammation can occur without active seizure activity. PMID:26775150

  20. Epilepsias parciais familiares Familial partial epilepsies

    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

  1. Individual classification of children with epilepsy using support vector machine with multiple indices of diffusion tensor imaging

    Ishmael Amarreh

    2014-01-01

    Conclusion: DTI-based SVM classification appears promising for distinguishing children with active epilepsy from either those with remitted epilepsy or controls, and the question that arises is whether it will prove useful as a prognostic index of seizure remission. While SVM can correctly identify children with active epilepsy from other groups' diagnosis, further research is needed to determine the efficacy of SVM as a prognostic tool in longitudinal clinical studies.

  2. Epilepsy in Adults with TSC

    Full Text Available ... epilepsy to discuss these medication issues with her health care providers. Additionally, some anticonvulsant medications can interact with ... hormones, seizures, and medications. Issues of Importance for Health Care Providers An important point for adults with TSC ...

  3. Epilepsy in Adults with TSC

    Full Text Available ... Brochures, Books, & Booklets Information Sheets Perspective Magazine Archives Life Stages Guides & Personal Journals TSC Research Article Summaries ... will have epilepsy at some point in their life. The majority of individuals with TSC will face ...

  4. Epilepsy in Adults with TSC

    Full Text Available ... either new-onset seizures or ongoing epilepsy. Recent studies indicate that more than 80% of individuals with ... trials and see a list of current trials/studies related to TSC. Enroll now in the Rare ...

  5. Epilepsy in Adults with TSC

    Full Text Available ... look depends on which part of the brain has the “lightning storm”. There are many underlying causes ... is critical for a woman with TSC who has epilepsy to discuss these medication issues with her ...

  6. Epilepsy in Adults with TSC

    Full Text Available ... and Seizures Epilepsy is any brain disorder that causes repeated, spontaneous seizures of any type. Seizures (sometimes ... convulsions) are episodes of disturbed brain function that cause changes in attention or behavior. They are caused ...

  7. Epilepsy in Adults with TSC

    Full Text Available ... vagus nerve stimulator, responsive neurostimulation, surgery and dietary therapies. Anti-Epileptic Medications: There are numerous choices of ... should consult with an epilepsy surgery program. Dietary Therapy: The ketogenic diet is a diet that is ...

  8. Epilepsy in Adults with TSC

    Full Text Available ... effect of one medication. Hormones play an important role in sexual function, and some men with epilepsy ... Brochures & Booklets Information Sheets Life Stages Guides & Personal Journals Perspective Magazine Archives TSC Clinics Physician Referral TSC ...

  9. Epilepsy in Adults with TSC

    Full Text Available ... History Database Tissue Donation Audio & Video Archives Brochures, Books, & Booklets Information Sheets Perspective Magazine Archives Life Stages ... Scientific Advisory Board 2015 International TSC Research Conference Text Size Get Involved EPILEPSY IN ADULTS WITH TSC ...

  10. Epilepsy in Adults with TSC

    Full Text Available ... everolimus) was approved by the Food and Drug Administration (FDA) in October 2010 for treatment of TSC- ... epilepsy to discuss these medication issues with her health care providers. Additionally, some anticonvulsant medications can interact ...

  11. Epilepsy in Adults with TSC

    Full Text Available ... be appropriate for women using epilepsy drugs that affect the rate at which the liver metabolizes estrogen. ... GreatNonprofits Member of the National Organization for Rare Disease Rare Disease Report America's Charities/Combined Federal Campaign # ...

  12. Epilepsy in Adults with TSC

    Full Text Available ... 525-4526). If you are transitioning from a pediatric neurologist to an adult neurologist then ask that ... epilepsy to discuss these medication issues with her health care providers. Additionally, some anticonvulsant medications can interact ...

  13. Epilepsy in Adults with TSC

    Full Text Available ... effect of one medication. Hormones play an important role in sexual function, and some men with epilepsy ... Tools Government Relations Overview Outreach Toolkit Government Action Team TS Alliance Online Support Community Facebook Twitter YouTube ...

  14. Epilepsy in Adults with TSC

    Full Text Available ... Epilepsy is any brain disorder that causes repeated, spontaneous seizures of any type. Seizures (sometimes called "fits" ... Rated Nonprofit by GreatNonprofits Member of the National Organization for Rare Disease Rare Disease Report America's Charities/ ...

  15. Epilepsy in Adults with TSC

    Full Text Available ... complex (TSC) face many medical issues as they age, including either new-onset seizures or ongoing epilepsy. ... will face the onset of seizures before the age of 3. However, it is not uncommon for ...

  16. Epilepsy in Adults with TSC

    Full Text Available ... Afinitor® (everolimus) was approved by the Food and Drug Administration (FDA) in October 2010 for treatment of ... pill might be appropriate for women using epilepsy drugs that affect the rate at which the liver ...

  17. Epilepsy in Adults with TSC

    Full Text Available ... centers in a large city and/or an academic center near you (for a listing of epilepsy ... onset seizures. Occasionally, the onset of seizures will result from a buildup of pressure in the brain ...

  18. Epilepsy in Adults with TSC

    Full Text Available ... should discuss with their doctors various treatment options. These might include increasing the dose of an anti- ... adults with epilepsy, so look for one of these centers in a large city and/or an ...

  19. Epilepsy in Adults with TSC

    Full Text Available ... of life. If individuals with TSC experience an increase in frequency or severity of their seizures or ... advised for women with LAM, so it is critical for a woman with TSC who has epilepsy ...

  20. Epilepsy in Adults with TSC

    Full Text Available ... epilepsy to discuss these medication issues with her health care providers. Additionally, some anticonvulsant medications can interact ... hormones, seizures, and medications. Issues of Importance for Health Care Providers An important point for adults with ...

  1. Epilepsy in Adults with TSC

    Full Text Available ... ED is a side effect of one medication. Hormones play an important role in sexual function, and some men with epilepsy have alterations in normal hormone levels. Both seizures and anti-epileptic medications can ...

  2. Epilepsy and Fine Motor Function

    J Gordon Millichap; Millichap, John J.

    2014-01-01

    Investigators at Kocaeli University, Pediatric Neurology OP Clinic, Turkey, studied the relationship between fine motor skills and seizure and treatment parameters in 44 children with rolandic epilepsy (RE) and compared to 44 healthy controls.

  3. Epilepsy in Adults with TSC

    Full Text Available ... many medical issues as they age, including either new-onset seizures or ongoing epilepsy. Recent studies indicate ... not uncommon for adults with TSC to develop new seizures or to experience a return of seizures ...

  4. Epilepsy in Adults with TSC

    Full Text Available ... seizures with 1-3 minute episodes of altered thinking, consciousness, or behaviors. Complex partial seizure is a ... advised for women with LAM, so it is critical for a woman with TSC who has epilepsy ...

  5. Epilepsy in Adults with TSC

    Full Text Available ... SEGAs that are not candidates for curative surgery. Evaluation of New-Onset Seizures All individuals with new- ... epilepsy will experience changes in sexual drive and performance. For example, many men report a decrease in ...

  6. Epilepsy in Adults with TSC

    Full Text Available ... have epilepsy is to achieve the best seizure control possible while maintaining the best quality of life. ... and ED. In fact, when seizures are under control, people seem to have improved sexual desire and ...

  7. Epilepsy in Adults with TSC

    Full Text Available ... epilepsy will experience changes in sexual drive and performance. For example, many men report a decrease in ... people seem to have improved sexual desire and performance. Men experiencing ED should visit a urologist to ...

  8. Epilepsy in Adults with TSC

    Full Text Available ... fits" or convulsions) are episodes of disturbed brain function that cause changes in attention or behavior. They ... medication. Hormones play an important role in sexual function, and some men with epilepsy have alterations in ...

  9. Epilepsy in Dante's poetry.

    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". PMID:26907926

  10. Presurgical evaluation of epilepsy

    Manas Panigrahi

    2008-01-01

    Full Text Available The objective of the multimodality presurgical evaluation in patients with refractory epilepsy is to establish sufficient concordance among the various investigations. There should be maximum overlap in the epileptogenic zone, the irritative zone, the ictal onset zone, the functional deficit zone and the symptomatogenic zone. The ictal and interictal electroencephalogram measures the localization of epileptiform discharges, which should be concordant with structural abnormalities noted on MRI brain and functional abnormalities in the form of a zone of hypometabolism on fluorodeoxyglucose positron emission tomography, interictal single photon emission computerized tomography (SPECT or hyperperfusion of the epileptogenic zone on ictal SPECT for a good surgical outcome. There should be no conflicting data from any of these studies, neuropsychological evaluation or seizure semiology.

  11. Stigma experience of people with epilepsy in Mexico and views of health care providers.

    Espínola-Nadurille, Mariana; Crail-Melendez, Daniel; Sánchez-Guzmán, Maria Alejandra

    2014-03-01

    Epilepsy is a neurological disorder with neurobiological, cognitive, psychological, and social consequences. Epilepsy stigma is a social determinant of ill health that affects the quality of life of people who suffer from epilepsy and that renders a poor social prognosis even worse than the clinical one. From a phenomenological approach, between January and July 2011, we explored the experience of epilepsy stigma through 25 in-depth qualitative interviews with 10 persons with temporal lobe epilepsy (PWE) (we avoided terms such as "epileptics" or "epileptic patients" because they can be labeling and stigmatizing), 10 carers (CEs) of PWE who attended the epilepsy clinic of the Institute of Neurology and Neurosurgery of Mexico, and 5 physicians specialized in epilepsy. The objective of the study was to identify the following: perceptions that could indicate any form of discrimination due to having epilepsy, reactions of people in front of a person having seizures, and social functioning of PWE since epilepsy onset, particularly their interpersonal relationships and participation in educational or working activities. Through the health providers' narratives, we explored the mainstream care practices, their perspectives on epilepsy, and their views about how the disease should be addressed. Thematic guidelines were elaborated for each type of participant. All information was processed with the use of the computer-assisted data analysis, Atlas.ti5. We made a codification of broad themes that corresponded to the main topics of the interview guidelines and then proceeded to finer categorization to elaborate the analytical categories. Epilepsy was attached to a powerful stereotype that includes notions of contamination, danger, sin, divine punishment, supernatural forces, and madness. Internalized, interpersonal, and institutional stigma prevents PWE from participating in school and employment and reduces their opportunities to establish peer and couple relationships

  12. NEW ASPECTS OF THE PATHOGENESIS OF EPILEPSY

    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.

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

    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. Epilepsy, Antiepileptic Drugs, and Aggression: An Evidence-Based Review.

    Brodie, Martin J; Besag, Frank; Ettinger, Alan B; Mula, Marco; Gobbi, Gabriella; Comai, Stefano; Aldenkamp, Albert P; Steinhoff, Bernhard J

    2016-07-01

    Antiepileptic drugs (AEDs) have many benefits but also many side effects, including aggression, agitation, and irritability, in some patients with epilepsy. This article offers a comprehensive summary of current understanding of aggressive behaviors in patients with epilepsy, including an evidence-based review of aggression during AED treatment. Aggression is seen in a minority of people with epilepsy. It is rarely seizure related but is interictal, sometimes occurring as part of complex psychiatric and behavioral comorbidities, and it is sometimes associated with AED treatment. We review the common neurotransmitter systems and brain regions implicated in both epilepsy and aggression, including the GABA, glutamate, serotonin, dopamine, and noradrenaline systems and the hippocampus, amygdala, prefrontal cortex, anterior cingulate cortex, and temporal lobes. Few controlled clinical studies have used behavioral measures to specifically examine aggression with AEDs, and most evidence comes from adverse event reporting from clinical and observational studies. A systematic approach was used to identify relevant publications, and we present a comprehensive, evidence-based summary of available data surrounding aggression-related behaviors with each of the currently available AEDs in both adults and in children/adolescents with epilepsy. A psychiatric history and history of a propensity toward aggression/anger should routinely be sought from patients, family members, and carers; its presence does not preclude the use of any specific AEDs, but those most likely to be implicated in these behaviors should be used with caution in such cases. PMID:27255267

  15. A health literacy assessment of the epilepsy.com website.

    Elliott, John O; Shneker, Bassel F

    2009-07-01

    Current healthcare guidelines identify low health literacy as a major barrier to optimal health communication. Health literacy is defined as the degree to which individuals can obtain, process and understand basic health information and services needed to make appropriate health decisions. An estimated 90 million people in the U.S. have marginal health literacy. The Institute of Medicine and the U.S. Department of Education recommend that health related information be written at the 6th-8th grade level to address low health literacy. Epidemiological studies demonstrate that persons with epilepsy have significantly lower educational attainment and lower incomes placing them at risk for low health literacy and limited Internet access. While Internet users tend to have higher educational attainment, previous research indicates even good readers prefer simpler rather than more complex medical information. Health educational content that could be printed and given to patients addresses an important need in clinical epilepsy care. Previous reviews of health websites found they exceed recommended readability levels. Two online programs were used to assess the reading level of 1327 web pages on the www.epilepsy.com website using established readability formulas. Based on the Flesch Reading Ease assessment, only 3% of epilepsy.com web pages are written for a 6th grade reading level or below. If 8th grade level or below is used as the standard, only 15% are adequate. Recommendations and examples are provided for improving the readability of epilepsy-specific health education content. PMID:19419887

  16. Telemedicine for Epilepsy Support in Resource-poor Settings

    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.

  17. Epilepsy, Antiepileptic Drugs, and Aggression: An Evidence-Based Review

    Besag, Frank; Ettinger, Alan B.; Mula, Marco; Gobbi, Gabriella; Comai, Stefano; Aldenkamp, Albert P.; Steinhoff, Bernhard J.

    2016-01-01

    Antiepileptic drugs (AEDs) have many benefits but also many side effects, including aggression, agitation, and irritability, in some patients with epilepsy. This article offers a comprehensive summary of current understanding of aggressive behaviors in patients with epilepsy, including an evidence-based review of aggression during AED treatment. Aggression is seen in a minority of people with epilepsy. It is rarely seizure related but is interictal, sometimes occurring as part of complex psychiatric and behavioral comorbidities, and it is sometimes associated with AED treatment. We review the common neurotransmitter systems and brain regions implicated in both epilepsy and aggression, including the GABA, glutamate, serotonin, dopamine, and noradrenaline systems and the hippocampus, amygdala, prefrontal cortex, anterior cingulate cortex, and temporal lobes. Few controlled clinical studies have used behavioral measures to specifically examine aggression with AEDs, and most evidence comes from adverse event reporting from clinical and observational studies. A systematic approach was used to identify relevant publications, and we present a comprehensive, evidence-based summary of available data surrounding aggression-related behaviors with each of the currently available AEDs in both adults and in children/adolescents with epilepsy. A psychiatric history and history of a propensity toward aggression/anger should routinely be sought from patients, family members, and carers; its presence does not preclude the use of any specific AEDs, but those most likely to be implicated in these behaviors should be used with caution in such cases. PMID:27255267

  18. Standards for epidemiologic studies and surveillance of epilepsy.

    Thurman, David J; Beghi, Ettore; Begley, Charles E; Berg, Anne T; Buchhalter, Jeffrey R; Ding, Ding; Hesdorffer, Dale C; Hauser, W Allen; Kazis, Lewis; Kobau, Rosemarie; Kroner, Barbara; Labiner, David; Liow, Kore; Logroscino, Giancarlo; Medina, Marco T; Newton, Charles R; Parko, Karen; Paschal, Angelia; Preux, Pierre-Marie; Sander, Josemir W; Selassie, Anbesaw; Theodore, William; Tomson, Torbjörn; Wiebe, Samuel

    2011-09-01

    Worldwide, about 65 million people are estimated to have epilepsy. Epidemiologic studies are necessary to define the full public health burden of epilepsy; to set public health and health care priorities; to provide information needed for prevention, early detection, and treatment; to identify education and service needs; and to promote effective health care and support programs for people with epilepsy. However, different definitions and epidemiologic methods complicate the tasks of these studies and their interpretations and comparisons. The purpose of this document is to promote consistency in definitions and methods in an effort to enhance future population-based epidemiologic studies, facilitate comparison between populations, and encourage the collection of data useful for the promotion of public health. We discuss: (1) conceptual and operational definitions of epilepsy, (2) data resources and recommended data elements, and (3) methods and analyses appropriate for epidemiologic studies or the surveillance of epilepsy. Variations in these are considered, taking into account differing resource availability and needs among countries and differing purposes among studies. PMID:21899536

  19. SPECT-PET in Epilepsy and Clinical Approach in Evaluation.

    Ergün, Eser Lay; Saygi, Serap; Yalnizoglu, Dilek; Oguz, Kader Karli; Erbas, Belkis

    2016-07-01

    In epilepsy, a detailed history, blood chemistry, routine electroencephalography, and brain MRI are important for the diagnosis of seizure type or epilepsy syndrome for the decision of appropriate drug treatment. Although antiepileptic drugs are mostly successful for controlling epileptic seizures, 20%-30% patients are resistant to medical treatment and continue to have seizures. In this intractable patient group, surgical resection is the primarily preferred treatment option. This particular group of patients should be referred to the epilepsy center for detailed investigation and further treatment. When the results of electroencephalography, MRI, and clinical status are discordant or there is no structural lesion on MRI, ictal-periictal SPECT, and interictal PET play key roles for lateralization or localization of epileptic region and guidance for the subsequent subdural electrode placement in intractable epilepsy. SPECT and PET show the functional status of the brain. SPECT and PET play important roles in the evaluation of epilepsy sydromes in childhood by showing abnormal brain regions. Most of the experience has been gained with (18)FDG-PET, in this respect. (11)C-flumazenil-PET usually deliniates the seizure focus more smaller than (18)FDG-PET and is sensitive in identifying medial temporal sclerosis. (11)C-alpha-methyl-l-tryptophan is helpful in the differentiation of epileptogenic and nonepileptogenic regions in children especially in tuberous sclerosis and multifocal cortical dysplasia for the evaluation of surgery. Finally, when there is concordance among these detailed investigations, resective surgery or palliative procedures can be discussed individually. PMID:27237440

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

    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: The...... incidences of the spectrum of non-organic non-affective psychosis, non-affective psychosis and schizophrenia were significantly increased both for men and women, even after exclusion of people diagnosed as suffering from a learning disability or substance misuse. CONCLUSION: This study supports the notion of...

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

    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. PMID:7574460

  2. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

    Svenstrup, Kirsten; Møller, R S; Christensen, Jacob;

    2011-01-01

    or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...... population of patients with HSP, but can be found in patients with complex HSP. Epilepsy might be more common in SPG6 than in other forms of HSP because of a genetic risk factor closely linked to NIPA1....

  3. Advances on the genetics of Mendelian idiopathic epilepsies.

    Baulac, Stéphanie; Baulac, Michel

    2010-12-01

    Genetic factors play an increasingly recognized role in idiopathic epilepsies. Since 1995, positional cloning strategies in multigenerational families with autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies. To date, all genes with the exception of LGI1, encode neuronal ion channel or neurotransmitter receptor subunits. Molecular approaches have revealed great genetic heterogeneity, with most genes remaining to be identified. One of the major challenges is now to understand phenotype-genotype correlations. This review focuses on the current knowledge on the molecular basis of these rare mendelian autosomal dominant forms of idiopathic epilepsies. PMID:20832659

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

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

    2012-01-01

    Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal with or without secondary generalization, or a...... mutation. It would establish the affected breed as a novel therapeutic model, help to develop a DNA test for breeding purposes and introduce a novel candidate gene for human idiopathic epilepsies.......Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal with or without secondary generalization, 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...

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

    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.

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

    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. PMID:26747083

  7. The Ketogenic Diet Improves Recently Worsened Focal Epilepsy

    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…

  8. Emerging surgical therapies in the treatment of pediatric epilepsy

    Karsy, Michael; Guan, Jian; Ducis, Katrina; Bollo, Robert J.

    2016-01-01

    In the approximately 1% of children affected by epilepsy, pharmacoresistance and early age of seizure onset are strongly correlated with poor cognitive outcomes, depression, anxiety, developmental delay, and impaired activities of daily living. These children often require multiple surgical procedures, including invasive diagnostic procedures with intracranial electrodes to identify the seizure-onset zone. The recent development of minimally invasive surgical techniques, including stereotacti...

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

    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...

  10. Predictive factors of seizure control in childhood onset epilepsy

    Eli Shahar

    2008-01-01

    Full Text Available Background: Prediction of the long-term outcomes of childhood-onset epilepsy remains crucial for the future well-being of the affected children and their families and for planning proper therapeutic and educational programs. Objective: To identify and analyze the early predictive factors of seizure control in childhood-onset epilepsies referred at the age of 1 month up to the age of 18 years to the Epilepsy Service at the Meyer Children Hospital, Rambam Medical Center, Haifa, Israel. Materials and Methods: In this study, children who were newly diagnosed with epileptic disorders and treated with antiepileptic drug therapy - who became either completely controlled for at least twelve months or those remaining intractable - were included. Partially responding children were excluded from the analysis. The etiology was segregated into either symptomatic or nonsymptomatic epilepsy, referred to as idiopathic epilepsy. Results: Overall, 74 children (mean age: 4.27 ± 4 years at the first seizure were found eligible for analysis followed for a mean period of 4.5 years. Fifty-three (72% children became seizure-free for a mean period of 20 months on antiepileptic drug (AED therapy and 21 (28% remained uncontrolled. Sixty out of 74 children (81% had idiopathic epilepsy and 14 (19% had symptomatic epilepsy. In those with idiopathic epilepsy, 46 (77% children gained complete seizure control in comparison to 7 out of 14 (50% children in the symptomatic group ( P < 0.01. Thirty-nine out of 47 (83% children who had normal cognition became seizure-free, and 14 (52% out of 27 mentally retarded children also became seizure-free ( P < 0.01. The outcome of seizure control was not affected by age at onset and seizure type itself during the presentation. Conclusion: The present study reveals that the single most predictive factor of a favorable seizure control is preserved cognitive function in accordance with idiopathic epilepsy. However, a fairly high number of

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

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

    2008-01-01

    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...... 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...

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

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

    2015-01-01

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

  13. Past absence as a predictor of present absence

    Løkke Møller, Ann-Kristina Løkke

    2014-01-01

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

  14. Epilepsy Surgery for Individuals with TSC

    ... of epilepsy surgery in patients with tuberous sclerosis. Neurology 62(3):479-81 Kagawa K, Chugani DC, ... for epilepsy surgery in patients with tuberous sclerosis. Neurology 64(9):1651-4 Moshel YA, Elliott R, ...

  15. Vagus Nerve Stimulation for Treating Epilepsy

    ... may help treat epilepsy. The American Academy of Neurology (AAN) is the world’s largest association of neurologists ... in people with epilepsy. ©2013 American Academy of Neurology www.aan.com CAN VNS BE ADJUSTED TO ...

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

    de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah;

    2016-01-01

    , microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non...

  17. A study of epilepsy-related psychosis

    Roy A; Rajesh S; Iby N; Jose J; Sarma G

    2003-01-01

    The association of epilepsy and psychosis is studied. Among the 500 patients of epilepsy evaluated, there were 12 patients, 8 males and 4 females with epilepsy-related psychosis. Their average age was 38 years. The interval between the age of onset of epilepsy and psychotic features was 9 years. Complex partial seizures were present in 7 patients and primary generalized tonic-clonic seizure was present in 1 patient. Four patients had post-ictal psychosis, 7 had acute interictal psychosis and ...

  18. Novel Animal Models of Pediatric Epilepsy

    Auvin, Stéphane; Pineda, Eduardo; Shin, Don; Gressens, Pierre; Mazarati, Andrey

    2012-01-01

    When mimicking epileptic processes in a laboratory setting, it is important to understand the differences between experimental models of seizures and epilepsy. Because human epilepsy is defined by the appearance of multiple spontaneous recurrent seizures, the induction of a single acute seizure without recurrence does not constitute an adequate epilepsy model. Animal models of epilepsy might be useful for various tasks. They allow for the investigation of pathophysiological mechanisms of the ...

  19. History of Neuropsychology Through Epilepsy Eyes

    Loring, David W.

    2010-01-01

    In the 19th century, Hughlings Jackson relied on clinical history, seizure semiology, and the neurologic examination as methods for seizure localization to inform the first epilepsy surgeries. In the 20th century, psychological and neuropsychological tests were first employed as both diagnostic and prognostic measures. The contemporary practice of epilepsy evaluation and management includes neuropsychology as a critical component of epilepsy care and research, and epilepsy and neuropsychology...

  20. Epilepsy in children with cerebral palsy

    J Akhundian

    2013-01-01

    Epilepsy occurs in 15-60% of children with cerebral palsy (CP). However, its clinical course is not well defined. This retrospective study reviews the prevalence, nature and prognosis of epilepsy in cerebral palsy. 53 of 133 children with cerebral palsy seen in the neuropediatric clinic in Mashhad emam Reza hospital between 1999 and 2001 had epilepsy. A control group of 70 epileptic children with normal neurodevelopment status was seen during the same period. Epilepsy most commonly affected p...

  1. Epilepsy in children with cerebral palsy

    Bruck Isac; Antoniuk Sérgio Antônio; Spessatto Adriane; Bem Ricardo Schmitt de; Hausberger Romeu; Pacheco Carlos Gustavo

    2001-01-01

    OBJECTIVE: To describe the prevalence and characteristics of epilepsy in patients with cerebral palsy in a tertiary center. METHODS: a total of 100 consecutive patients with cerebral palsy were retrospectively studied. Criteria for inclusion were follow-up period for at least 2 years. Types and incidence of epilepsy were correlated with the different forms of cerebral palsy. Other factors associated with epilepsy such as age of first seizure, neonatal seizures and family history of epilepsy w...

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

    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

  3. Is Interictal EEG Correlated with the Seizure Type in Idiopathic (Genetic Generalized Epilepsies?

    Ali Akbar ASADI-POOYA

    2012-06-01

    Full Text Available How to Cite this Article: Asadi-pooya AA, Emami M. Is Interictal EEG Correlated with the Seizure Type in Idiopathic (Genetic Generalized Epilepsies? Iran J Child Neurol 2012;6(2: 25-28. Objective We investigated the correlation between different interictal EEG abnormalities observed in patients with idiopathic (genetic generalized epilepsies (IGEs and their seizure types. Material & Methods In this cross-sectional study, all patients with the diagnosis of IGE, were recruited in the outpatient epilepsy clinic at Shiraz University of Medical Sciences, Iran, from 2008 through 2010. Demographic variables and relevant clinical and EEG variables were summarized descriptively. Statistical analyses were performed using independent samples T-test, Chi square and Fisher's Exact tests to determine potentially significant differences. Results Three-hundred thirty-six patients were diagnosed ashaving IGE. Interictal EEG findings in patients with generalized tonic-clonic seizure (GTCS compared to patients without GTCS were not different. Abnormal EEG findings in patients with myoclonic seizures compared to patients without these were not different either. However, normal EEGs were more frequently observed in patients with history of myoclonic seizures (P = 0.0001. EEG findings in patients with absences compared to patients without absences were not different. Conclusion Interictal EEG cannot differentiate the seizure types and therefore different syndromes of IGEs. Polyspikes, 3-Hz generalized spike-wave (GSW complexes and 3.5 - 6 Hz GSW complexes, alone or in combinations, could be observed in various seizure types and syndromes of IGE. The key element in making the correct diagnosis is a detailed clinical history. References Panayiotopoulos CP. Idiopathic generalized epilepsies. In: Panayiotopoulos CP, editor. The epilepsies: seizures, syndromes and management. Oxford: Bladon Medical Publishing 2005. p. 271-348. Lagerlund TD, Cascino GD, Cicora KM

  4. Vascular anomalies associated with epilepsy - case report

    Epilepsy is a common neurological disorder in which the individual has recurrent seizures. These seizures occur when there is an imbalance in the electrical activity of the brain. The malfunction may be in a small area of the brain or spread to the entire brain. Epilepsy usually begins in childhood or adolescence. About 2.3 million people have seizures or epilepsy. (author)

  5. Epilepsy in prisons: a diagnostic survey.

    Gunn, J; Fenton, G

    1969-11-01

    A previous study has suggested that epilepsy is commoner in prisons than in the general population. We devised a standard definition of "epilepsy" and then interviewed a representative sample of the "epileptics" in prisons. The results confirmed the initial conclusion, and showed the point prevalence of epilepsy in prison and Borstals to be at least 7.1/1,000 men. PMID:5386266

  6. Epilepsy surgery: Recommendations for India

    Chandra P

    2010-01-01

    Full Text Available The following article recommends guidelines for epilepsy surgery for India. This article reviews the indications, the various surgical options available and the outcome of surgery for drug resistant epilepsy based on current evidence. Epilepsy surgery is a well-established option for patients who have been diagnosed to have drug resistant epilepsy (DRE (on at least two appropriate, adequate anti-epileptic drugs (AEDs (either in monotherapy or in combination with continuing seizures, where the presurgical work-up has shown concordance of structural imaging (magnetic resonance imaging and electrical mapping data (electroencephalography (EEG, video EEG. There may be a requirement of functional imaging techniques in a certain number of DRE like positron emission tomography (PET, single photon emission tomography, (SPECT. Invasive monitoring should be restricted to a few when all noninvasive investigations are inconclusive, there is a dual pathology or there is a discordance of noninvasive data. The types of surgery could be curative (resective surgeries: amygdalo hippocampectomy, lesionectomy and multilobar resections; functional surgeries: hemispherotomy and palliative (multiple subpial transaction, corpus callosotomy, vagal nerve stimulation. Epilepsy surgery in indicated cases has a success range from 50 to 86% in achieving seizure freedom as compared with < 5% success rate with AEDs only in persons with DRE. Centers performing surgery should be categorized into Level I and Level II.

  7. The genetics of the epilepsies.

    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. PMID:26008807

  8. Evidence of Absence software

    Dalthorp, Daniel; Huso, Manuela M. P.; Dail, David; Kenyon, Jessica

    2014-01-01

    Evidence of Absence software (EoA) is a user-friendly application used for estimating bird and bat fatalities at wind farms and designing search protocols. The software is particularly useful in addressing whether the number of fatalities has exceeded a given threshold and what search parameters are needed to give assurance that thresholds were not exceeded. The software is applicable even when zero carcasses have been found in searches. Depending on the effectiveness of the searches, such an absence of evidence of mortality may or may not be strong evidence that few fatalities occurred. Under a search protocol in which carcasses are detected with nearly 100 percent certainty, finding zero carcasses would be convincing evidence that overall mortality rate was near zero. By contrast, with a less effective search protocol with low probability of detecting a carcass, finding zero carcasses does not rule out the possibility that large numbers of animals were killed but not detected in the searches. EoA uses information about the search process and scavenging rates to estimate detection probabilities to determine a maximum credible number of fatalities, even when zero or few carcasses are observed.

  9. Epilepsy and driving

    Moetamedi M

    2000-09-01

    Full Text Available Epilepsy is a disease with high prevalence, which interferes driving and may lead to car accident; This case-control study has been done on 100 epileptic patients and 100 persons as control group, who had history of driving. We gathered our patients with face to face interview and registering their information in special forms which were prepared for this study. There were three times more accidents among epileptic cases comparing with control group and this difference was more considerable in men and in patients under 35 years old. The cause of accident were not seizure attack in more than 60% of the patients and these ordinary accidents were also more in case group. Epileptic patients with history of car accidents during driving had poor drug compliance comparing with the epileptics without history of an accident so drug compliance may be valuable in predicting accident in these patients. We have also found poor drug compliance in whom seizure attacks caused accident for them. 58% of the epileptics had not consulted their physician about driving. 43.3% of seizures during driving were of generalized type and none of the patients had inform police about their disease during getting driving license.

  10. Photosensitivity and epilepsy.

    Verrotti, Alberto; Trotta, Daniela; Salladini, Carmela; di Corcia, Giovanna; Chiarelli, Francesco

    2004-08-01

    Photosensitive epilepsy is a well-known condition characterized by seizures in patients who show photoparoxysmal responses on electroencephalography (EEG) elicited by intermittent photic stimulation. Photoparoxysmal responses can be defined as epileptiform EEG responses to intermittent photic stimulation or to other visual stimuli of everyday life and are frequently found in nonepileptic children. The modern technologic environment has led to a dramatic increase in exposure to potential trigger stimuli; nowadays, television and video games are among the most common triggers in daily life. There is ample evidence for genetic transmission of photoparoxysmal responses; systematic family studies have provided data for an autosomal dominant mode of inheritance with age-dependent penetrance for photosensitivity. The age of maximum penetrance is between 5 and 15 years. The prognosis for control of seizures induced by visual stimulation is generally very good. The large majority of patients do not need anticonvulsant therapy, but, when needed, the drug of choice is valproate. Stimulus avoidance and stimulus modification can be an effective treatment in some patients and can sometimes be combined with antiepileptic drug treatment. PMID:15605465

  11. Generic Single-Channel Detection of Absence Seizures

    Petersen, Eline B.; Duun-Henriksen, Jonas; Mazzaretto, Andrea; Kjær, Troels W.; Thomsen, Carsten E.; Sørensen, Helge Bjarup Dissing

    2011-01-01

    A long-term EEG-monitoring system, which automatically marks seizure events, is useful for diagnosing and treating epilepsy. A generic method utilizing the low interand intra-patient variabilities in EEG-characteristics during absence seizures is proposed. This paper investigates if the spike...... obtained for the derivation F7-FP1. Using this channel a sensitivity of 99.1 %, positive predictive value of 94.8 %, mean detection latency of 3.7 s, and false detection rate value of 0.5/h was obtained. The topographical visualization of the results clearly shows that the frontal, midline, and parietal...

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

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

    2016-04-01

    Epilepsy represents the third most common neurological disorders in the elderly after cerebrovascular disorders and dementias. The incidence of new-onset epilepsy peaks in this age group. The most peculiar aetiologies of late-onset epilepsy are stroke, dementia, and brain tumours. However, aetiology remains unknown in about half of the patients. Diagnosis of epilepsy may be challenging due to the frequent absence of ocular witnesses and the high prevalence of seizure-mimics (i.e. transient ischemic attacks, syncope, transient global amnesia or vertigo) in the elderly. The diagnostic difficulties are even greater when patients have cognitive impairment or cardiac diseases. The management of late-onset epilepsy deserves special considerations. The elderly can reach seizure control with low antiepileptic drugs (AEDs) doses, and seizure-freedom is possible in the vast majority of patients. Pharmacological management should take into account pharmacokinetics and pharmacodynamics of AEDs and the frequent occurrence of comorbidities and polytherapy in this age group. Evidences from double-blind and open-label studies indicate lamotrigine, levetiracetam and controlled-release carbamazepine as first line treatment in late-onset epilepsy. PMID:26896787

  13. Caregiver Burden in Epilepsy: Determinants and Impact

    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.

  14. The Causal Effects of Father Absence

    McLanahan, Sara; TACH, LAURA; Schneider, Daniel

    2013-01-01

    The literature on father absence is frequently criticized for its use of cross-sectional data and methods that fail to take account of possible omitted variable bias and reverse causality. We review studies that have responded to this critique by employing a variety of innovative research designs to identify the causal effect of father absence, including studies using lagged dependent variable models, growth curve models, individual fixed effects models, sibling fixed effects models, natural ...

  15. Alzheimer’s disease and epilepsy: insight from animal models

    Scharfman, Helen E.

    2012-01-01

    Alzheimer’s disease (AD) and epilepsy are separated in the medical community, but seizures occur in some patients with AD, and AD is a risk factor for epilepsy. Furthermore, memory impairment is common in patients with epilepsy. The relationship between AD and epilepsy remains an important question because ideas for therapeutic approaches could be shared between AD and epilepsy research laboratories if AD and epilepsy were related. Here we focus on one of the many types of epilepsy, temporal ...

  16. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

    Jorge, Benjamin S.; Campbell, Courtney M.; Miller, Alison R.; Rutter, Elizabeth D.; Gurnett, Christina A; Vanoye, Carlos G; George, Alfred L.; Kearney, Jennifer A.

    2011-01-01

    Mutations in voltage-gated ion channels are responsible for several types of epilepsy. Genetic epilepsies often exhibit variable severity in individuals with the same mutation, which may be due to variation in genetic modifiers. The Scn2aQ54 transgenic mouse model has a sodium channel mutation and exhibits epilepsy with strain-dependent severity. We previously mapped modifier loci that influence Scn2aQ54 phenotype severity and identified Kcnv2, encoding the voltage-gated potassium channel sub...

  17. Combined detection of depression and anxiety in epilepsy patients using the Neurological Disorders Depression Inventory for Epilepsy and the World Health Organization well-being index

    Hansen, Christian Pilebæk; Amiri, Moshgan

    2015-01-01

    PURPOSE: To validate the Danish version of the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), and compare it with the World Health Organization index for psychological well-being (WHO-5) as screening tests for depression and anxiety in epilepsy patients. METHODS: Epilepsy...... outpatients filled out NDDI-E and WHO-5. A Mini International Neuropsychiatric Interview (MINI) as gold standard for psychiatric diagnoses was carried out with every patient. RESULTS: We included 124 epilepsy patients. According to MINI, 5% had depression without anxiety, 6% anxiety without depression, and 6...... detection of anxiety WHO-5 was better than NDDI-E. With a score below 50, WHO-5 as screening for anxiety had a sensitivity of 0.80, a specificity of 0.92, PPV 0.57, and NPV 0.97. When combining NDDI-E>13 and WHO-5<50, 95% of patients with depression and/or anxiety are identified, and in addition there are...

  18. Current Topics in Epilepsy Surgery.

    Usui, Naotaka

    2016-05-15

    This article reviews the current topics in the field of epilepsy surgery. Each type of epilepsy is associated with a different set of questions and goals. In mesial temporal lobe epilepsy (MTLE) with hippocampal sclerosis (HS), postoperative seizure outcome is satisfactory. A recent meta-analysis revealed superior seizure outcome after anterior temporal lobectomy compared with selective amygdalohippocampectomy; in terms of cognitive outcome; however, amygdalohippocampectomy may be beneficial. In temporal lobe epilepsy with normal magnetic resonance imaging (MRI), postoperative seizure outcome is not as favorable as it is in MTLE with HS; further improvement of seizure outcome in these cases is necessary. Focal cortical dysplasia is the most common substrate in intractable neocortical epilepsy, especially in children, as well as in MRI-invisible neocortical epilepsy. Postoperative seizure-free outcome is approximately 60-70%; further diagnostic and therapeutic improvement is required. Regarding diagnostic methodology, an important topic currently under discussion is wideband electroencephalogram (EEG) analysis. Although high-frequency oscillations and ictal direct current shifts are considered important markers of epileptogenic zones, the clinical significance of these findings should be clarified further. Regarding alternatives to surgery, neuromodulation therapy can be an option for patients who are not amenable to resective surgery. In addition to vagus nerve stimulation, intracranial stimulation such as responsive neurostimulation or anterior thalamic stimulation is reported to have a modest seizure suppression effect. Postoperative management such as rehabilitation and antiepileptic drug (AED) management is important. It has been reported that postoperative rehabilitation improves postoperative employment status. Pre- and post-operative comprehensive care is mandatory for postoperative improvement of quality of life. PMID:26984452

  19. Epilepsy in patients with Angelman syndrome

    Fiumara Agata

    2010-04-01

    Full Text Available Abstract Angelman syndrome (AS is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly. The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others

  20. Novel medications for epilepsy.

    Fattore, Cinzia; Perucca, Emilio

    2011-11-12

    Despite the introduction of many second-generation antiepileptic drugs (AEDs) in the last 2 decades, the proportion of individuals with pharmacoresistant epilepsy has not been reduced substantially compared with the late 1960s. All currently available AEDs also have limitations in terms of adverse effects and susceptibility to be involved in clinically important drug-drug interactions. Therefore, the search for potentially more effective and better tolerated agents is continuing. This article reviews the pharmacological and clinical profile of the latest compounds to receive marketing authorization. Since the beginning of 2008, three novel AEDs, lacosamide, eslicarbazepine acetate and retigabine (also known as ezogabine), have become commercially available in Europe, with lacosamide and retigabine also being licensed in the US. All three agents are indicated for the adjunctive treatment of focal seizures in adults. Eslicarbazepine acetate is a produg for eslicarbazepine, which acts by blocking voltage-dependent sodium channels. Lacosamide enhances the slow inactivation phase of voltage-dependent sodium channels, and retigabine potentiates neuronal M-currents by opening Kv 7.2-7.5 potassium channels. All three agents, which are well absorbed from the gastrointestinal tract, exhibit linear pharmacokinetics. Lacosamide is also available as an intravenous formulation intended as replacement therapy for patients temporarily unable to take oral medications. All three drugs are eliminated partly unchanged in urine and partly by biotransformation through glucuronide conjugation (eslicarbazepine, retigabine), N-acetylation (retigabine) and oxidative demethylation (lacosamide). The half-life is in the order of 8-20 hours for eslicarbazepine, 12-16 hours for lacosamide and 6-10 hours for retigabine. Based on the limited information available to date, the ability of these agents to cause pharmacokinetic drug interactions appears to be relatively modest, although

  1. Rate and complications of adult epilepsy surgery in North America: Analysis of multiple databases.

    Rolston, John D; Englot, Dario J; Knowlton, Robert C; Chang, Edward F

    2016-08-01

    Epilepsy surgery is under-utilized, but recent studies reach conflicting conclusions regarding whether epilepsy surgery rates are currently declining, increasing, or remaining steady. However, data in these prior studies are biased toward high-volume epilepsy centers, or originate from sources that do not disaggregate various procedure types. All major epilepsy surgery procedures were extracted from the Centers for Medicare and Medicaid Services Part B National Summary Data File and the American College of Surgeons National Surgical Quality Improvement Program. Procedure rates, trends, and complications were analyzed, and patient-level predictors of postoperative adverse events were identified. Between 2000-2013, 6200 cases of epilepsy surgery were identified. Temporal lobectomy was the most common procedure (59% of cases), and most did not utilize electrocorticography (63-64%). Neither temporal nor extratemporal lobe epilepsy surgery rates changed significantly during the study period, suggesting no change in utilization. Adverse events, including major and minor complications, occurred in 15.3% of temporal lobectomies and 55.6% of hemispherectomies. Our findings suggest stagnant rates of both temporal and extratemporal lobe epilepsy surgery across U.S. surgical centers over the past decade. This finding contrasts with prior reports suggesting a recent dramatic decline in temporal lobectomy rates at high-volume epilepsy centers. We also observed higher rates of adverse events when both low- and high-volume centers were examined together, as compared to reports from high-volume centers alone. This is consistent with the presence of a volume-outcome relationship in epilepsy surgery. PMID:27259069

  2. Epilepsy, cognition, and neuropsychiatry (Epilepsy, Brain, and Mind, part 2)

    Korczyn, A.D.; Schachter, S.C.; Brodie, M.J.; Dalal, S.S.; Engel Jr., J.; Guekht, A.; Hecimovic, H.; Jerbi, K.; Kanner, A.M.; Landmark, C.J.; Mareš, Pavel; Marusič, P.; Meletti, S.; Mula, M.; Patsalos, P. N.; Reuber, M.; Ryvlin, P.; Štillová, K.; Tuchman, R.; Rektor, I.

    2013-01-01

    Roč. 28, č. 2 (2013), s. 283-302. ISSN 1525-5050 R&D Projects: GA MŠk(CZ) LC554; GA ČR(CZ) GAP304/10/1274 Institutional support: RVO:67985823 Keywords : epilepsy * psychiatry * clinical studies * experimental models Subject RIV: FH - Neurology Impact factor: 2.061, year: 2013

  3. Frequency of Obstructive Sleep Apnea Syndrome Among Patients with Epilepsy Attending a Tertiary Neurology Clinic

    Mohammed Al-Abri

    2015-01-01

    Full Text Available Objectives: Epilepsy is a common neurological disorder with a median lifetime prevalence of 14 per 1000 subjects. Sleep disorders could influence epileptic seizure. The most common sleep disorder is obstructive sleep apnea syndrome (OSAS which occurs in 2% of adult women and 4% of adult men in the general population. The aim of this study is to estimate the frequency of OSAS among patients with epilepsy and to study the seizure characteristics among those patients with co-morbid OSAS.  Methods: Patients with a confirmed diagnosis of epilepsy who attended the Sultan Qaboos University Hospital neurology clinic were recruited for the study between June 2011 and April 2012. Patients were screened for OSAS by direct interview using the validated Arabic version of the Berlin questionnaire. Patients identified as high-risk underwent polysomnography.  Results: A total of 100 patients with epilepsy (55 men and 45 women were screened for OSAS. Generalized and focal seizure was found in 67% of male and 27% of female patients. Six percent of the participants had epilepsy of undetermined type. Only 9% of the sample was found to have high risk of OSAS based on the Berlin questionnaire. No significant correlation was found between risk of OSAS, type of epilepsy, and anti-epileptic drugs.  Conclusion: The risk of OSAS was marginally greater in patients with epilepsy compared to the general population with the overall prevalence of 9%.

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

    Muijzer Anna

    2012-01-01

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

  5. Opportunities for improving animal welfare in rodent models of epilepsy and seizures

    Lidster, K.; Jefferys, JG; I. Blümcke; Crunelli, V.; Flecknell, P; Frenguelli, BG; Gray, WP; Kaminski, R.; Pitkänen, A.; Ragan, I; Shah, M.; Simonato, M; Trevelyan, A; Volk, H; Walker, M.

    2015-01-01

    Animal models of epilepsy and seizures, mostly involving mice and rats, are used to understand the pathophysiology of the different forms of epilepsy and their comorbidities, to identify biomarkers, and to discover new antiepileptic drugs and treatments for comorbidities. Such models represent an important area for application of the 3Rs (replacement, reduction and refinement of animal use). This report provides background information and recommendations aimed at minimising pain, suffering an...

  6. Quantifying interictal metabolic activity in human temporal lobe epilepsy

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

  7. ECG changes in epilepsy patients

    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...

  8. Epilepsy in Adults with TSC

    Full Text Available ... see if it is a treatment that might benefit their individual situation. Epilepsy Surgery: Surgical approaches to ... to the individual’s quality of life, such as physical or language ... program. Dietary Therapy: The ketogenic diet is a diet that is ...

  9. Epilepsy in Adults with TSC

    Full Text Available ... have epilepsy is to achieve the best seizure control possible while maintaining the best quality of life. If individuals with TSC experience an ... be the advocate to achieve the best seizure control possible while also optimizing the ... quality of life. Health care providers should remember that ...

  10. Positron emission tomography in epilepsy

    Epilepsy is characterized by paroxysmal alterations in behavior and psychological functions, associated with increased neural discharge that is detectable by EEG. In between these paroxysmal events patients may appear superficially normal, but may have neurological signs and neurpsychological deficits. The neurological signs are sometimes correlated with radiologically detectable lesions, but there is little correlation between the CT abnormalities and the EEG focus, and CT abnormalities are rarely found in ''primary'' or ''idiopathic'' forms of epilepsy. Thus, seizure foci documented by ictal EEG can occur in regions that appear normal on CT. Since brain abnormalities implicated in epilepsy are more clearly reflected in measures of neural activity than in measures of anatomy, PET has particular potential for the study of epileptic pathophysiology. It provides the ability to measure local alterations in brain blood flow and metabolism, which are highly coupled with neural activity, and this makes possible the characterization of metabolic changes associated with epilepsy. Thus PET has the potential for contributing to the localization of epileptic activity as well as to the understanding of its pathophysiology

  11. Epilepsy in Adults with TSC

    Full Text Available ... for women using epilepsy drugs that affect the rate at which the liver metabolizes estrogen. The dosage for emergency contraception (morning after pill) will also depend on the type of anticonvulsant medication a woman takes. The use of barrier methods such as a diaphragm, sponges, ...

  12. Neuropsychological Aspects of Epilepsy Surgery

    Alpherts, W.C.J. (Willem Cornelis Johan)

    2003-01-01

    Only a small number of patients with epilepsy undergo a neurosurgical operation in which the area from which epileptic neurons generate seizures is removed. From a neuropsychological perspective several different assessments and outcomes are being looked at. Chapter 2 deals with research on the Wada

  13. Epilepsy in Adults with TSC

    Full Text Available ... centers in a large city and/or an academic center near you (for a listing of epilepsy ... due to the presence of a subependymal giant cell astrocytoma (SEGA), a ... MN 55416 Phone: 888-525-6232 952-525-4526 Minneapolis, MN ...

  14. Epilepsy in Adults with TSC

    Full Text Available ... and almost one-third of men with epilepsy report difficulty achieving and maintaining an erection, known as erectile dysfunction (ED). In many cases, ED may result as a seizure medication side effect but other medical issues may cause ED. However, this reaction to ...

  15. Sleep Disorders, Epilepsy, and Autism

    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…

  16. Epilepsy in Adults with TSC

    ... are under control, people seem to have improved sexual desire and performance. Men experiencing ED should visit a urologist to get help determining a cause and getting treatment. In addition, men ... role in sexual function, and some men with epilepsy have alterations ...

  17. Epilepsy in Adults with TSC

    Full Text Available ... are under control, people seem to have improved sexual desire and performance. Men experiencing ED should visit a urologist to get help determining a cause and getting treatment. In addition, men ... role in sexual function, and some men with epilepsy have alterations ...

  18. Epilepsy in Adults with TSC

    Full Text Available ... a lowered rate of efficacy, leading to unintended pregnancy. A higher dosage estrogen pill might be appropriate for women using epilepsy drugs that affect the rate at which the liver metabolizes estrogen. The dosage for emergency contraception (morning after pill) will also depend on ...

  19. Emerging surgical therapies in the treatment of pediatric epilepsy.

    Karsy, Michael; Guan, Jian; Ducis, Katrina; Bollo, Robert J

    2016-04-01

    In the approximately 1% of children affected by epilepsy, pharmacoresistance and early age of seizure onset are strongly correlated with poor cognitive outcomes, depression, anxiety, developmental delay, and impaired activities of daily living. These children often require multiple surgical procedures, including invasive diagnostic procedures with intracranial electrodes to identify the seizure-onset zone. The recent development of minimally invasive surgical techniques, including stereotactic electroencephalography (SEEG) and MRI-guided laser interstitial thermal therapy (MRgLITT), and new applications of neurostimulation, such as responsive neurostimulation (RNS), are quickly changing the landscape of the surgical management of pediatric epilepsy. In this review, the authors discuss these various technologies, their current applications, and limitations in the treatment of pediatric drug-resistant epilepsy, as well as areas for future research. The development of minimally invasive diagnostic and ablative surgical techniques together with new paradigms in neurostimulation hold vast potential to improve the efficacy and reduce the morbidity of the surgical management of children with drug-resistant epilepsy. PMID:27186523

  20. Emerging surgical therapies in the treatment of pediatric epilepsy

    Karsy, Michael; Guan, Jian; Ducis, Katrina

    2016-01-01

    In the approximately 1% of children affected by epilepsy, pharmacoresistance and early age of seizure onset are strongly correlated with poor cognitive outcomes, depression, anxiety, developmental delay, and impaired activities of daily living. These children often require multiple surgical procedures, including invasive diagnostic procedures with intracranial electrodes to identify the seizure-onset zone. The recent development of minimally invasive surgical techniques, including stereotactic electroencephalography (SEEG) and MRI-guided laser interstitial thermal therapy (MRgLITT), and new applications of neurostimulation, such as responsive neurostimulation (RNS), are quickly changing the landscape of the surgical management of pediatric epilepsy. In this review, the authors discuss these various technologies, their current applications, and limitations in the treatment of pediatric drug-resistant epilepsy, as well as areas for future research. The development of minimally invasive diagnostic and ablative surgical techniques together with new paradigms in neurostimulation hold vast potential to improve the efficacy and reduce the morbidity of the surgical management of children with drug-resistant epilepsy.

  1. Chronic temporal lobe epilepsy: a neurodevelopmental or progressively dementing disease?

    Helmstaedter, C; Elger, C E

    2009-10-01

    dementing decline in chronic TLE patients. During childhood, and even more so during the decade following puberty, the critical phases for establishing episodic memory deficits appear. This increases the risk of premature 'dementia' later on, even in the absence of an accelerated decline. Material specific verbal memory impairment in left TLE is a characteristic of the mature brain and seems to disappear at an older age. The findings suggest that increased attention is to be paid to the time of epilepsy onset and thereafter. Early control of epilepsy is demanded to counteract developmental hindrance and damage at a younger age. PMID:19635728

  2. Sleep and Epilepsy: Strange Bedfellows No More.

    St Louis, Erik K

    2011-09-01

    Ancient philosophers and theologians believed that altered consciousness freed the mind to prophesy the future, equating sleep with seizures. Only recently has the bidirectional influences of epilepsy and sleep upon one another received more substantive analysis. This article reviews the complex and increasingly recognized interrelationships between sleep and epilepsy. NREM sleep differentially activates interictal epileptiform discharges during slow wave (N3) sleep, while ictal seizure events occur more frequently during light NREM stages N1 and N2. The most commonly encountered types of sleep-related epilepsies (those with preferential occurrence during sleep or following arousal) include frontal and temporal lobe partial epilepsies in adults, and benign epilepsy of childhood with centrotemporal spikes (benign rolandic epilepsy) and juvenile myoclonic epilepsy in children and adolescents. Comorbid sleep disorders are frequent in patients with epilepsy, particularly obstructive sleep apnea in refractory epilepsy patients which may aggravate seizure burden, while treatment with nasal continuous positive airway pressure often improves seizure frequency. Distinguishing nocturnal events such as NREM parasomnias (confusional arousals, sleep walking, and night terrors), REM parasomnias including REM sleep behavior disorder, and nocturnal seizures if frequently difficult and benefits from careful history taking and video-EEG-polysomnography in selected cases. Differentiating nocturnal seizures from primary sleep disorders is essential for determining appropriate therapy, and recognizing co-existent sleep disorders in patients with epilepsy may improve their seizure burden and quality of life. PMID:23539488

  3. Current management and surgical outcomes of medically intractable epilepsy.

    Ramey, Wyatt L; Martirosyan, Nikolay L; Lieu, Corinne M; Hasham, Hasnain A; Lemole, G Michael; Weinand, Martin E

    2013-12-01

    Epilepsy is one of the most common neurologic disorders in the world. While anti-epileptic drugs (AEDs) are the mainstay of treatment in most cases, as many as one-third of patients will have a refractory form of disease indicating the need for a neurosurgical evaluation. Ever since the first half of the twentieth century, surgery has been a major treatment option for epilepsy, but the last 10-15 years in particular has seen several major advances. As shown in relatively recent studies, resection is more effective for medically intractable epilepsy (MIE) than AED treatment alone, which is why most clinicians now endorse a neurosurgical consultation after approximately two failed regimens of AEDs, ultimately leading to decreased healthcare costs and increased quality of life. Temporal lobe epilepsy (TLE) is the most common form of MIE and comprises about 80% of epilepsy surgeries with the majority of patients gaining complete seizure-freedom. As the number of procedures and different approaches continues to grow, temporal lobectomy remains consistently focused on resection of mesial structures such as the amygdala, hippocampus, and parahippocampal gyrus while preserving as much of the neocortex as possible resulting in optimum seizure control with minimal neurological deficits. MIE originating outside the temporal lobe is also effectively treated with resection. Though not as successful as TLE surgery because of their frequent proximity to eloquent brain structures and more diffuse pathology, epileptogenic foci located extratemporally also benefit from resection. Favorable seizure outcome in each of these procedures has heavily relied on pre-operative imaging, especially since the massive surge in MRI technology just over 20 years ago. However, in the absence of visible lesions on MRI, recent improvements in secondary imaging modalities such as fluorodeoxyglucose positron emission computed tomography (FDG-PET) and single-photon emission computed tomography (SPECT

  4. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Lemke, Johannes R; Lal, Dennis; Reinthaler, Eva M;

    2013-01-01

    Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic...

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

    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

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

    ... 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 ...

  7. Long-Term Social Outcomes in Childhood Epilepsy

    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.

  8. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

    ... myoclonic epilepsy spinal muscular atrophy with progressive myoclonic epilepsy Enable Javascript to view the expand/collapse boxes. ... All Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

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

    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

    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 conse...

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

    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 conse...

  11. The comorbidity of the epilepsies and the impact of mortality in people with epilepsy.

    Gaitatzis, A.

    2005-01-01

    The thesis describes the epidemiology of selected somatic and psychiatric conditions in epilepsy and the health care demands of people with epilepsy, and presents broad estimates of life expectancy in people with epilepsy in the community in comparison to people without epilepsy. A cross-sectional study was conducted extracting data from the General Practice Research Database for the period 1995-1998. Psychiatric disorders occurred twice as often and the risk of groups of most somatic disorde...

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

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

    2016-01-01

    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. PMID:25012388

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

    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

  14. [Neuropsychology, plasticity and childhood epilepsy].

    Lassonde, Maryse; Sauerwein, Hannelore C

    2007-11-01

    Epilepsy is one of the most frequent childhood disorders. While most cases are well controlled, approximately 30-50% are resistant to medical treatment. In these cases, neurosurgery may be an option. Since 1979, our team at the Sainte-Justine Hospital in Montreal has studied the impact of epilepsy on the psycho-motor and cognitive development of the affected children. The aim of a first series of studies was to explore the extent and limits of cerebral plasticity by investigating the neuropsychological sequelae of early versus late callosotomy and hemispherectomy. In keeping with the plasticity hypothesis, the results revealed that the children who were operated before puberty showed fewer deficits than those operated during adolescence or adulthood. However, the compensatory mechanisms available to them appeared to be limited with respect to the nature and complexity of the information they can process. For instance, young children having undergone section of the corpus callosum resembled individuals born without a corpus callosum (callosal agenesis) in that there did not show the typical disconnection deficits seen in adult ''split-brain'' patients. However, they exhibited deficits on tasks requiring interhemispheric integration of motor and visuo-motor information. By the same token, hemispherectomy patients were still able to make visual judgements in their ''blind'' visual field but they were found to be impaired on a variety of visual and auditory tasks (localization of a sound sources in space) requiring the participation of both hemispheres. In a second series of studies, carried out in collaboration with a Parisian team, we intended to describe the neuropsychological profile of focal epilepsies, specifically frontal and temporal epilepsy. Contrary to the common belief that childhood epilepsy would result in diffuse impairments, we were able to demonstrate that children manifest the same localized deficits as adult patients. In studies presently underway in

  15. Lamotriginbehandling af 92 patienter med intraktabel epilepsi

    Karlsborg, M; Gram, L; Dam, M

    1996-01-01

    The efficacy of treatment with lamotrigine (LTG) was evaluated in 92 patients with refractory epileptic seizures (46 women and 46 men aged 14-80 years, median 32 years). Seventy-one patients had partial epilepsy and 21 had primary generalized epilepsy. Patients were treated from zero to four (most...... frequently two) other antiepileptic drugs (AEDs). Maintenance dose of LTG was 50-800 mg daily (median 300 mg). Fifteen percent of the patients became seizure-free (13% of patients with partial epilepsy, 24% with primary generalized epilepsy). Thirty-eight percent of patients experienced at least 50...... patients, either because of adverse events or lack of effect. We conclude, that LTG is effective in reducing seizure frequency in patients with therapyresistant primary generalized epilepsy or partial epilepsy. Toxicity appears to be limited....

  16. Complex single gene disorders and epilepsy.

    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.

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

    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.

  18. Psychotic illness in patients with epilepsy

    Kanemoto, Kousuke; Tadokoro, Yukari; Oshima, Tomohiro

    2012-01-01

    Apart from the rather rare ictal psychotic events, such as non-convulsive status epilepticus, modern epileptic psychoses have been categorized into three main types; chronic and acute interictal psychoses (IIPs) and postictal psychosis (PIP). Together, they comprise 95% of psychoses in patients with epilepsy (PWE). Four major questions, that is, “Is psychosis in PWE a direct consequence of epilepsy or schizophrenia induced by epilepsy?”, “Is psychosis in PWE homogeneous or heterogeneous?”, “D...

  19. International Veterinary Epilepsy Task Force consensus proposal

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

    2015-01-01

    initial drug is unsatisfactory, and 4) when treatment changes should be considered. In this consensus proposal, an overview is given on the aim of AED treatment, when to start long-term treatment in canine epilepsy and which veterinary AEDs are currently in use for dogs. The consensus proposal for drug...... management of canine idiopathic epilepsy. Furthermore, for the management of structural epilepsy AEDs are inevitable in addition to treating the underlying cause, if possible....

  20. Epilepsy Genes : Excitement Traced to Ion Channels

    Kaneko, Sunao; Wada, Kazumaru; Okada, Motohiro; Kawata, Yuko

    1999-01-01

    Epilepsy is a neurological disorder characterized by recurring seizures. It is physiologicallycharacterized by abnormal, excessive and self-terminating discharges from neurons. Epilepsy affects morethan 0.5 % of the world's population and has a large genetic component. The most common human geneticepilepsies display a complex pattern of inheritance and the identity of the susceptibility genes is largelyunknown. This article reviews recent progress made in molecular genetics of epilepsy, inclu...

  1. Epilepsy Genetics—Past, Present, and Future

    Poduri, Annapurna; Lowenstein, Daniel

    2011-01-01

    Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight important recent discoveries that have expanded the field beyond the realm of channels and neurotransmitters and that have challenged the notion that single genes produce single diso...

  2. Immunoglobulin treatment in human and experimental epilepsy.

    van Engelen, B. G. M.; Renier, W O; Weemaes, C.M.R.

    1994-01-01

    The relationship between human immunoglobulin administration, and human and experimental epilepsy was investigated by reviewing the literature as well as the authors' clinical and experimental studies. The focus was: 1) the possible efficacy of IVIg; 2) the possibility that IVIg significantly increases CSF IgG and could reach the brain, and 3) the interaction between the IVIg preparation and epilepsy. There is still no formal proof of efficacy of IVIg treatment in epilepsy. However, the clini...

  3. Endocrine abnormalities in human temporal lobe epilepsy.

    Gallagher, B. B.

    1987-01-01

    Patients with temporal lobe epilepsy secrete ACTH at higher rates and in greater amounts than normal subjects. Temporal lobectomy restores ACTH secretion to normal amounts and rates. The ACTH secretion in temporal lobe epilepsy is independent of anticonvulsant drug effect and seizure frequency. Electrical stimulation of medial temporal lobe structures in patients with temporal lobe epilepsy affected ACTH secretion in a manner consistent with the hypothesis that ACTH secretion is regulated by ...

  4. Brain SPECT imaging in temporal lobe epilepsy

    Temporal lobe epilepsy is diagnosed by clinical symptoms and signs and by localization of an epileptogenic focus. A brain SPECT study of two patients with temporal lobe epilepsy, using 99mTc-HMPAO, was used to demonstrate a perfusion abnormality in the temporal lobe, while brain CT and MRI were non-contributory. The electroencephalogram, though abnormal, did not localize the diseased area. The potential role of the SPECT study in diagnosis and localization of temporal lobe epilepsy is discussed. (orig.)

  5. CONIPLENIENTARY AND ALTERNATIVE MEDICINE (CANI) IN EPILEPSY

    Aulina, Susi

    2015-01-01

    Epilepsy is a difficult illness to control up to 35% of patients with Epilepsy do not respond fully to science based medical treatment which ln the developed countries include at least 20 drugs. Surgery is highly effective and save for selected patients but it still underused, even in high-income countries. Many people with epilepsy may not be candidates for surgery because a single site of origin of their seizures cannot be localized or exists within eloquent regions of the corte...

  6. PET i prekirurgisk evaluering av epilepsi

    2010-01-01

    PET in presurgical evaluation of epilepsy. Background: Today, at Rikshospitalet PET medical center, FDG is used as a tracer in the PET investigations during the presurgical evaluation of patients with epilepsy. The purpose of this paper is to see if FGD-PET gives additional information compared with EEG and MR. Another purpose was to find out whether there is a need for new ligands, and which ones. Material and methods: All epilepsy order forms to FDG-PET at Rikshopitalet, during 2007...

  7. Magnetic Resonance Imaging in Pediatric Epilepsy

    R. Barikbin; A. Hekmatnia; R Basiratnia; M. Farghadani; M. Mottaghi

    2008-01-01

    Epilepsy is a common neurological affliction of children. It carries an estimated annual incidence of up to one per 1,000, and a prevalence of up to 5 per 1,000 children. Children suffering from epilepsy have a significantly increased mortality rate. The major causes of death are the underlying cause of the epilepsy itself, associated neurological compromise, injuries, and status epilepticus."nNeuroimaging techniques have advanced the diagnosis, management, and understanding the pathophy...

  8. Symptomatic Epilepsies due to Cerebrovascular Diseases

    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 prese...

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

    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. PMID:25934584

  10. Multimodal neuroimaging in presurgical evaluation of childhood epilepsy

    Jung, Da Eun; Lee, Joon-Soo

    2010-01-01

    In pre-surgical evaluation of pediatric epilepsy, the combined use of multiple imaging modalities for precise localization of the epileptogenic focus is a worthwhile endeavor. Advanced neuroimaging by high field Magnetic resonance imaging (MRI), diffusion tensor images, and MR spectroscopy have the potential to identify subtle lesions. 18F-FDG positron emission tomography and single photon emission tomography provide visualization of metabolic alterations of the brain in the ictal and interic...

  11. Diagnostic, treatment, and surgical imaging in epilepsy.

    Nagae, Lidia Mayumi; Lall, Neil; Dahmoush, Hisham; Nyberg, Eric; Mirsky, David; Drees, Cornelia; Honce, Justin M

    2016-01-01

    Dedicated epilepsy centers are growing in hospitals throughout the USA and abroad, with a continuously increasing role of imaging in multidisciplinary meetings. Imaging is paramount in diagnosis, treatment, and surgical decision-making in lesional and nonlesional epileptic disease. Besides being up-to-date with technical developments in imaging that may make an impact in patient care, familiarity with clinical and surgical aspects of epilepsy is fundamental to better understanding of patient management. The present article intends to revisit diagnostic, therapeutic, and surgical imaging in epilepsy. Finally, with the increase in frequency of epilepsy management-related procedures and their hardware, MRI safety issues are discussed. PMID:27317207

  12. Structural magnetic resonance imaging in epilepsy

    Deblaere, Karel [Ghent University Hospital, Department of Neuroradiology, Ghent (Belgium); Ghent University Hospital, MR Department - 1K12, Ghent (Belgium); Achten, Eric [Ghent University Hospital, Department of Neuroradiology, Ghent (Belgium)

    2008-01-15

    Because of its sensitivity and high tissue contrast, magnetic resonance imaging (MRI) is the technique of choice for structural imaging in epilepsy. In this review the effect of using optimised scanning protocols and the use of high field MR systems on detection sensitivity is discussed. Also, the clinical relevance of adequate imaging in patients with focal epilepsy is highlighted. The most frequently encountered MRI findings in epilepsy are reported and their imaging characteristics depicted. Imaging focus will be on the diagnosis of hippocampal sclerosis and malformations of cortical development, two major causes of medically intractable focal epilepsy. (orig.)

  13. MR imaging findings in patients with epilepsy

    We retrospectively examined the MR imaging (MRI) findings in 144 patients with epilepsy (31 with temporal lobe epilepsy and 113 with other epilepsies). 110 cases (76.4%) showed abnormal findings such as spotty lesions in white matter, hippocampal atrophy and/or signal change, ventricular dilatation and/or deformity, developmental lesions, brain tumors and so on. Hippocampal atrophy and/or signal change was shown in 74.1% of temporal lobe epilepsy, a remarkably high percentage (p<0.01) compared with the other types of epilepsies (18.1%). This finding means that hippocampal lesions may play a large part in the cause of temporal lobe epilepsy. Investigation of the relationship between clinical term and abnormal findings revealed that the longer the clinical term, the large the number of hippocampal lesions, regardless of whether it is temporal lobe epilepsy or not. Thus hippocampal lesions may occur as a result of hypoxia accompanied with seizure. Therefore we recommend horizontal and/or vertical sections of hippocampus in MR imaging of all patients with epilepsy. Even though MR finding may reflect some secondary lesions, MRI will shed some light on the proper understanding of epilepsy. (author)

  14. Structural magnetic resonance imaging in epilepsy

    Because of its sensitivity and high tissue contrast, magnetic resonance imaging (MRI) is the technique of choice for structural imaging in epilepsy. In this review the effect of using optimised scanning protocols and the use of high field MR systems on detection sensitivity is discussed. Also, the clinical relevance of adequate imaging in patients with focal epilepsy is highlighted. The most frequently encountered MRI findings in epilepsy are reported and their imaging characteristics depicted. Imaging focus will be on the diagnosis of hippocampal sclerosis and malformations of cortical development, two major causes of medically intractable focal epilepsy. (orig.)

  15. Temporal Lobe Epilepsy in Children

    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.

  16. [Primary reading epilepsy. 11 cases].

    Vercelletto, P; Cler, J M; Friol, M

    1985-01-01

    Eleven cases of primary reading epilepsy are reported. They confirm Bickford's description. These patients were otherwise normal. A family history of seizures was present in 6 cases. The first seizure occurred between 12 and 25 years. After a variable period of reading all patients developed a tightness and jerking in throat and jaw muscles. In 4 cases, occasionally, speaking could cause jaw or throat jerks. Whilst reading out loud or silently (exclusively in reading aloud in 1 patient) bilateral discharges were recorded in EEG, sometimes on the left hemisphere. The mechanisms are discussed. Seizures in primary reading epilepsy are facilitated by saccadic eye movements, impulse language muscles and mental concentration. The role of higher integrating systems of language is emphasized. Therapy is discussed. PMID:4048729

  17. Epilepsy, hormones, and antiepileptic drugs

    2010-01-01

    LIST OF PAPERS 1) Svalheim S, Taubøll E, Bjørnenak T, Røste LS, Mørland T, Sætre ER, Gjerstad L. Do women with epilepsy have increased frequency of menstrual disturbances? Seizure 2003; 12:529-533. doi:10.1016/S1059-1311(03)00195-X 2) Svalheim S, Taubøll E, Bjørnenak T, Røste LS, Mørland T, Sætre ER, Gjerstad L. Onset of epilepsy and menarche--is there any relationship? Seizure 2006; 15:571-575. doi:10.1016/j.seizure.2006.07.003 3) Svalheim S, Taubøll E, Surdova K, Ormel L, Dahl...

  18. Surgical strategies for pediatric epilepsy

    Guan, Jian; Karsy, Michael; Ducis, Katrina

    2016-01-01

    Pediatric epilepsy is a debilitating condition that impacts millions of patients throughout the world. Approximately 20–30% of children with recurrent seizures have drug-resistant epilepsy (DRE). For these patients, surgery offers the possibility of not just seizure freedom but significantly improved neurocognitive and behavioral outcomes. The spectrum of surgical options is vast, ranging from outpatient procedures such as vagus nerve stimulation to radical interventions including hemispherectomy. The thread connecting all of these interventions is a common goal—seizure freedom, an outcome that can be achieved safely and durably in a large proportion of patients. In this review, we discuss many of the most commonly performed surgical interventions and describe the indications, complications, and outcomes specific to each.

  19. Clinical Genetic Testing in Epilepsy

    Mefford, Heather C.

    2015-01-01

    New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; therefore, it is important to understand the types of tests available and the types of mutations that can be detected. Making a genetic diagnosis improves overall patient care by enhancing prognosis and recurrence risk counseling and informing treatmen...

  20. Physiological factors in childhood epilepsy.

    LeWinn, E B

    1980-08-01

    The identification and correction of adverse physiological changes that lead to seizures in children can improve the effectiveness of current therapeutic practices in epilepsy. It is proposed that various circadian rhythms (respiration, hormones, water balance, electrolytes, intracranial pressure, blood pressure), meteorological phenomena (barometric presure, ambient environmental temperature, relative humidity), and developmental processes can profoundly influence the precipitation or prevention of seizures through their physiological effects. PMID:7190490

  1. PSEUDOSEIZURES AND EPILEPSY IN NEUROCYSTICERCOSIS

    Ibañez-Valdés L de F.; Foyaca-Sibat H

    2003-01-01

    We studied 32 rural patients from the poorest regions in South Africa, diagnosed as epilepsy due to neurocysticercosis presenting pseudoseizures. We found that the common clinical characteristics of this series and its psychological profile such as: duration of events, history of sexual abuse in females, absent of focal neurological signs, vocalization in the middle of the seizures, and lack of post-ictal symptoms were very useful for its differential diagnosis, and the possible difference be...

  2. Seizures and epilepsy in cats

    Moore SA

    2014-01-01

    Sarah A Moore Department of Veterinary Clinical Sciences, The Ohio State University, Columbus, OH, USA Abstract: Seizures are a common presenting complaint in cats, although causes and options for the treatment of seizures in this species have been historically poorly described in the veterinary literature. Seizure manifestation in cats may be different than what is typically seen in dogs, but the underlying causes of seizure activity are the same. These include primary epilepsies, structura...

  3. Idiopathic epilepsy and school achievement.

    Sturniolo, M G; Galletti, F

    1994-01-01

    Forty one children (20 boys, 21 girls) aged 6-10.8 years (mean age 8.6 years) who were affected with idiopathic epilepsy underwent neuropsychological (Wechsler Intelligence Scale for Children, Bender test) and behavioural assessment (Personality Inventory for Children; this was also used in a matched control group). Further information was obtained by teachers' reports. School underachievement occurred in 25 children (61%). Statistical analysis showed no influence of sex, social background, a...

  4. Idiopathic epilepsy and school achievement.

    Sturniolo, M G; Galletti, F

    1994-05-01

    Forty one children (20 boys, 21 girls) aged 6-10.8 years (mean age 8.6 years) who were affected with idiopathic epilepsy underwent neuropsychological (Wechsler Intelligence Scale for Children, Bender test) and behavioural assessment (Personality Inventory for Children; this was also used in a matched control group). Further information was obtained by teachers' reports. School underachievement occurred in 25 children (61%). Statistical analysis showed no influence of sex, social background, age of onset, seizure type, duration of illness, features seen on electroencephalography, and treatment. School failure was due to poor performance in almost all academic fields, and was associated with higher visuomotor impairment; children showing good school performance had a higher mean IQ and less visuomotor impairment. The behaviour of children with epilepsy who had a good academic performance did not differ from that of their healthy peers. Emotional maladjustment (social skill impairment, depression, poor motivation, and low self esteem) was associated with poor school performance. Such problems, that may complicate the course of idiopathic epilepsy and require an appropriate educational programme, should be carefully considered by the clinician. PMID:8017966

  5. Perceptions of epilepsy among first-year medical students at Mulago Hospital in Kampala, Uganda.

    Bigelow, Jeffrey; Berrett, Sawyer; Kimuli, Ivan; Katabira, Elly

    2015-10-01

    Epilepsy is associated with stigma throughout the world, which leads to poor treatment of people with epilepsy (PWE). In Uganda, there are more than 75,000 PWE and a large treatment gap. This study evaluated the knowledge, attitudes, and practices regarding epilepsy among first-year medical students at Mulago Hospital. A 22-question survey was developed based on the previous studies of Birbeck et al.'s regarding the stigma of epilepsy in Zambia. This was administered to first-year medical students (96 respondents) at Mulago Hospital in Uganda. More than 80% said that they would not allow their children to marry PWE. Most respondents believed that epilepsy was a mental illness, and many believed that PWE cannot have normal intelligence. Students reported that there was a negative perception and negative treatment of PWE in the community. Some students believed that epilepsy was caused by supernatural causes and was contagious. These misperceptions must be identified and corrected among medical students and other healthcare providers to allow for fair treatment of PWE; this should be incorporated into medical school curriculums in Uganda. PMID:26253598

  6. Interval analysis of interictal EEG: pathology of the alpha rhythm in focal epilepsy

    Pyrzowski, Jan; Siemiński, Mariusz; Sarnowska, Anna; Jedrzejczak, Joanna; Nyka, Walenty M.

    2015-11-01

    The contemporary use of interictal scalp electroencephalography (EEG) in the context of focal epilepsy workup relies on the visual identification of interictal epileptiform discharges. The high-specificity performance of this marker comes, however, at a cost of only moderate sensitivity. Zero-crossing interval analysis is an alternative to Fourier analysis for the assessment of the rhythmic component of EEG signals. We applied this method to standard EEG recordings of 78 patients divided into 4 subgroups: temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), psychogenic nonepileptic seizures (PNES) and nonepileptic patients with headache. Interval-analysis based markers were capable of effectively discriminating patients with epilepsy from those in control subgroups (AUC~0.8) with diagnostic sensitivity potentially exceeding that of visual analysis. The identified putative epilepsy-specific markers were sensitive to the properties of the alpha rhythm and displayed weak or non-significant dependences on the number of antiepileptic drugs (AEDs) taken by the patients. Significant AED-related effects were concentrated in the theta interval range and an associated marker allowed for identification of patients on AED polytherapy (AUC~0.9). Interval analysis may thus, in perspective, increase the diagnostic yield of interictal scalp EEG. Our findings point to the possible existence of alpha rhythm abnormalities in patients with epilepsy.

  7. PET evaluation of refractory epilepsy in children and adolescents

    In many cases of intractable epilepsy, the focus is difficult to localize. In this paper positron emission tomography (PET) and MR imaging are compared for accuracy in identifying seizure foci. Cerebral glucose utilization was measured using conventional fluorodeoxyglucose technique in 29 children with epilepsy. All subjects also underwent MR imaging and were evaluated clinically and electrophysiologically. The authors evaluated 34 regions of interest (ROIs) within eight tomographic sections for rCMRglu metabolism. In 17 of 29 patients, MR imaging yielded normal results; PET results were abnormal in 12 of these patients, 11 of whom went on to surgery. The five patients in whom both PET and MR imaging results were normal did not go to surgery, and no definitive diagnoses were made

  8. Genetic animal models of malformations of cortical development and epilepsy.

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  9. Sleep and Epilepsy: Strange Bedfellows No More

    St. Louis, Erik K

    2011-01-01

    Ancient philosophers and theologians believed that altered consciousness freed the mind to prophesy the future, equating sleep with seizures. Only recently has the bidirectional influences of epilepsy and sleep upon one another received more substantive analysis. This article reviews the complex and increasingly recognized interrelationships between sleep and epilepsy. NREM sleep differentially activates interictal epileptiform discharges during slow wave (N3) sleep, while i...

  10. Effect of Seizure Clustering on Epilepsy Outcome

    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.

  11. Pragmatic Communication Deficits in Children with Epilepsy

    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…

  12. Living with Epilepsy--Not around It

    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…

  13. Epilepsy and Intellectual and Developmental Disabilities

    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…

  14. Relation of Cognitive Proficiency to Epilepsy Focus

    J Gordon Millichap

    2012-01-01

    Investigators at Children’s Memorial Hospital/Northwestern University School of Medicine Epilepsy Center, Chicago, and Kangbuk Samsung Hospital, Seoul, Korea examined the relationship of cognitive proficiency (CP) to general intellectual ability (GA) and seizure focus by retrospective chart review of 90 children (aged 6-18 years) with epilepsy, video-EEG recording, MRI, and neuropsychological testing (WISC-IV).

  15. Profiling cytokines in temporal lobe epilepsy

    Kan, A.A.

    2012-01-01

    Temporal lobe epilepsy (TLE) is one of the most common types of partial epilepsy. Because about 30% of the TLE patients poorly respond to medication, identification of new drug targets to treat TLE is imperative. This requires detailed knowledge of the pathophysiology of TLE . The aim of this thesis

  16. Drug Resistance Proteins and Refractory Epilepsy

    J Gordon Millichap

    2002-01-01

    Expression of multi-drug resistance gene-1 P-glycoprotein (MDR1) and multidrug resistance-associated protein 1 (MRP1) in refractory epilepsy was studied at the Epilepsy Research Group, Institutes of Neurology and Child Health, University College, London, and Radcliffe Infirmary, Oxford, UK.

  17. Sensory modulation disorders in childhood epilepsy

    van Campen, Jolien S; Jansen, Floor E; Kleinrensink, Nienke J; Joëls, Marian; Braun, Kees Pj; Bruining, Hilgo

    2015-01-01

    BACKGROUND: Altered sensory sensitivity is generally linked to seizure-susceptibility in childhood epilepsy but may also be associated to the highly prevalent problems in behavioral adaptation. This association is further suggested by the frequent overlap of childhood epilepsy with autism spectrum d

  18. Sleep Disorders in Children with Epilepsy

    J Gordon Millichap

    2006-01-01

    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.

  19. Monocarboxylate transporters in temporal lobe epilepsy

    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...

  20. Pharmacotherapy of epilepsy: newly approved and developmental agents.

    Stephen, Linda J; Brodie, Martin J

    2011-02-01

    This article discusses seven newly available antiepileptic drugs (AEDs) and agents in phase III development. Lacosamide, licensed as an adjunctive treatment for partial-onset seizures, primarily acts by enhancing sodium channel slow inactivation. At daily doses of 200-600 mg, the drug significantly reduced partial-onset seizures in adults with refractory epilepsy. The most common adverse effects are CNS related. Rufinamide, available as adjunctive treatment for seizures associated with Lennox-Gastaut syndrome, has an unclear mechanism of action, although it does block voltage-dependent sodium channels. Coadministration of valproic acid significantly increases rufinamide circulating concentrations. The drug has been shown to have efficacy for partial-onset, primary generalized tonic-clonic, tonic-atonic, absence and atypical absence seizures. Adverse effects are mainly somnolence, nausea and vomiting. Eslicarbazepine acetate, a carbamazepine analogue, was recently licensed as adjunctive treatment for partial-onset seizures. Eslicarbazepine acetate acts at voltage-gated sodium channels, although the precise mechanism of action is unclear. The drug had efficacy for partial-onset seizures in three randomized, double-blind, placebo-controlled studies, using 400, 800 or 1200 mg/day. Adverse effects include dizziness and somnolence. Retigabine (ezogabine) exerts its anticonvulsant effect through the opening of neuronal voltage-gated potassium channels. Following significant seizure reduction rates at dosages of 600, 900 and 1200 mg/day, license applications have been submitted for its use as adjunctive treatment for patients with partial-onset seizures. Dose-related adverse effects include somnolence, confusion and dizziness. Brivaracetam is the n-propyl analogue of levetiracetam. Mixed results have been obtained in phase III studies in patients with partial-onset seizures, and further trials in children, patients with photosensitive epilepsy and patients with partial

  1. Mutations in DEPDC5 cause Familial Focal Epilepsywith Variable Foci and are a common cause of familial non-lesional focal epilepsy

    Pandolfo, Massimo; Dibbens, Leanne; De Vries, Boukje; Donatello, Simona; Heron, Sarah; Hodgson, Bree; Chintawar, Satyan; Crompton, Douglas; Hughes, James; Bellows, Susannah; Klein, Karl Martin; Callenbach, Petra; Corbett, Mark; Gardner, Alison; Kivity, Sarah; Iona, Xenia; Regan, Brigid; Weller, Claudia; Crimmins, Denis; O'Brien, Terence; Guerrero-López, Rosa; Mulley, John; Dubeau, Francois; Licchetta, Laura; Bisulli, Francesca; Cossette, Patrick; Thomas, Paul; Gecz, Jozef; Serratosa, Jose; Brouwer, Oebele; Andermann, Frederick; Andermann, Eva; Van Den Maagdenberg, Arn; Berkovic, Samuel; Scheffer, Ingrid

    2013-01-01

    OBJECTIVE: To identify the genetic cause of autosomal dominant Familial Focal Epilepsy with Variable Foci (FFEVF), to investigate the prevalence of mutations in the FFEVF causative gene in familial cases of non-lesional focal epilepsy, to study the expression in the brain and the subcellular localiz

  2. Obtaining genetic testing in pediatric epilepsy.

    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. PMID:26345167

  3. International veterinary epilepsy task force consensus proposal

    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...... paroxysmal events can be challenging. Criteria that can be used to make this differentiation are presented in detail and discussed. Criteria for the diagnosis of idiopathic epilepsy (IE) are described in a three-tier system. Tier I confidence level for the diagnosis of IE is based on a history of two or more...... diagnosis of IE is based on the factors listed in tier I and unremarkable fasting and post-prandial bile acids, magnetic resonance imaging (MRI) of the brain (based on an epilepsy-specific brain MRI protocol) and cerebrospinal fluid (CSF) analysis. Tier III confidence level for the diagnosis of IE is based...

  4. Danish experience with paediatric epilepsy surgery

    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 in...... majority 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...

  5. Anxiety disorders in people with epilepsy.

    Brandt, Christian; Mula, Marco

    2016-06-01

    Anxiety disorders are frequent, though probably underdiagnosed, comorbidities in epilepsy. Epilepsy and anxiety may share common neurobiological correlates as shown in animal models and suggested by studies demonstrating anxiety disorders before the manifestation of epilepsy. Comorbid anxiety disorders have a major impact on the affected patients' quality of life and may increase the risk for suicidality. Successful treatment of the epilepsy may alleviate anxiety symptoms. Treatment of anxiety is based on selective serotonin reuptake inhibitors, benzodiazepines (although only as second-line choices), and psychotherapy. Specific AEDs (especially pregabalin) have been shown to have anxiolytic properties. This paper is aimed at reviewing anxiety disorders in patients with epilepsy discussing current scientific evidence about pathophysiology, clinical aspects, and treatment strategies. PMID:27116536

  6. SM-10ANTI-EPILEPTIC DRUGS AND CORTICAL IRRITABILITY IN PATIENTS WITH TUMORAL EPILEPSIES

    Warren, Paula; Szaflarski, Jerzy; Nabors, Louis

    2014-01-01

    Tumor-associated seizures and epilepsy in patients with primary malignant brain tumors constitute a major healthcare challenge. Seizures and antiepileptic drugs (AEDs) used in their management significantly impact patients' quality of life; there is a dearth of information regarding the actual effects of AEDs on cortical irritability, as measured by electroencephalograms (EEGs). Herein, we investigated the effects of various AEDs on the presence or absence of epileptiform discharges (EDs) in ...

  7. Management of Epilepsy and Pregnancy

    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.

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

    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…

  9. Issues for Women with Epilepsy.

    Vélez-Ruiz, Naymeé J; Pennell, Page B

    2016-05-01

    Epilepsy and antiepileptic drugs affect the menstrual cycle, aspects of contraception, reproductive health, pregnancy, and menopause through alteration of sex steroid hormone pathways. Sex steroid hormones often have an effect on seizure frequency and may alter the level of some antiepileptic drugs. Approximately one-third of women experience an increase in perimenstrual and/or periovulatory seizure frequency. Some women experience an increase in seizure frequency during pregnancy. Balancing maternal seizure control and the risk of congenital malformations associated with fetal antiepileptic drug exposure may be challenging. Some antiepileptic drugs are associated with cognitive and behavioral teratogenesis and should be avoided if possible during pregnancy. PMID:27086987

  10. Epilepsy emergencies: diagnosis and management.

    Foreman, Brandon; Hirsch, Lawrence J

    2012-02-01

    Seizures and status epilepticus are epilepsy emergencies with high morbidity and mortality. Early treatment is crucial, and the identification of an underlying etiology informs both continued treatment and prognosis. Many patients have underdiagnosed nonconvulsive seizures or nonconvulsive status epilepticus, particularly the comatose or critically ill. Timely EEG can be useful for diagnosis, management, optimizing treatment response, and determining prognosis in these patients. Refractory conditions can be quite complicated with limited evidence-based guidance, but treatment should not be restricted by nihilism even in the most prolonged cases, especially if there is not widespread irreversible brain injury. PMID:22284053

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

    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. PMID:26588588

  12. VNS in drug resistant epilepsy: preliminary report on a small group of patients

    Iero Luisa

    2010-04-01

    Full Text Available Abstract Background In 1997 Vagus Nerve Stimulation (VNS received approval from the US Food and Drug Administration (FDA as an adjunctive therapy in the treatment of medically intractable partial epilepsy in people aged 12 years and older who are ineligible for resective epilepsy surgery. Although the exact mechanisms of action are unknown, the use of VNS with children has increased, including those younger than 12 years of age, or those with generalized epilepsy. Methods We describe the outcome for the first group of nine patients, aged 8-28 years, who had pharmaco-resistant epilepsy and were treated with VNS. During the follow up, we gradually and slowly increased the parameters of the stimulation in order to assess the efficacy of VNS even at parameters which would usually be considered "non-therapeutic", along with possible side effects and changes in quality of life. Results At the last follow, up 1 patient was "seizures free", 3 were "very good responders", 3 were "good responders" and 2 were "non responders". We obtained an initial seizure reduction with low stimulation parameters, the highest current reached being 2.00 mA. This observation supports the possibility that, for younger patients, lower stimulation intensities than those commonly used in clinical practice for adults can be therapeutic. We also wanted to underline the reduction in seizure frequency (~91,7% and the reduction in seizure duration (> 50% in the patients affected by drug-resistant absence epilepsy. Adverse effects were mild, tolerable and, in most of cases, easily resolved by adjusting the stimulation parameters. Hoarseness of voice was the most frequent side effect. The improvements in the quality of life are relevant and seem to be independent of the VNS effect in controlling seizures. Conclusions Our small experience seems to confirm the efficacy and safety of VNS in drug resistant partial and generalized epilepsy in developing age groups.

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

    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.

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

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

    2007-01-01

    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......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...

  15. Psychiatric Comorbidity, Social Aspects and Quality of Life in a Population-Based Cohort of Expecting Fathers with Epilepsy.

    Simone Frizell Reiter

    Full Text Available To investigate psychiatric disorders, adverse social aspects and quality of life in men with epilepsy during partner's pregnancy.We used data from the Norwegian Mother and Child Cohort Study, including 76,335 men with pregnant partners. Men with epilepsy were compared to men without epilepsy, and to men with non-neurological chronic diseases.Expecting fathers in 658 pregnancies (mean age 31.8 years reported a history of epilepsy, 36.9% using antiepileptic drugs (AEDs at the onset of pregnancy. Symptoms of anxiety or depression were increased in epilepsy (7.0% and 3.9%, respectively vs. non-epilepsy (4.6% and 2.5%, respectively, p = 0.004 and 0.023, and so were new onset symptoms of depression (2.0% vs. 1.0%, p < 0.031 and anxiety (4.3% vs. 2.3%, p = 0.023. Low self-esteem (2.5% and low satisfaction with life (1.7% were more frequent among fathers with epilepsy compared to fathers without epilepsy (1.3% and 0.7%, respectively, p = 0.01 and 0.010. Adverse social aspects and life events were associated with epilepsy vs. both reference groups. Self-reported diagnoses of ADHD (2.2% and bipolar disorder (1.8% were more common in epilepsy vs. non-epilepsy (0.4% and 0.3%, respectively, p = 0.002 and 0.003 and non-neurological chronic disorders (0.5% and 0.5%, respectively, p = 0.004 and 0.018. A screening tool for ADHD symptoms revealed a higher rate compared to self-reported ADHD (9.5% vs. 2.2%, p < 0.001.Expecting fathers with epilepsy are at high risk of depression and anxiety, adverse socioeconomic aspects, low self-esteem, and low satisfaction with life. Focus on mental health in fathers with epilepsy during and after pregnancy is important. The use of screening tools can be particularly useful to identify those at risk.

  16. Invasive Evaluations for Epilepsy Surgery: A Review of the Literature.

    Enatsu, Rei; Mikuni, Nobuhiro

    2016-05-15

    Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy. This article reviews the usefulness, methods, and limitations of invasive evaluations for epilepsy surgery. Invasive evaluations include various types of intracranial electrodes such as stereotactically implanted intracranial depth electrodes (stereo-EEG), chronic subdural electrodes, and intraoperative electrocorticography. Scalp EEG is distorted by the skull, meninges, and skin. On the other hand, intracranial electrodes provide spatial information with higher resolution than scalp electrodes, thereby enabling further delineation of epileptogenic zones and mapping of functional areas with electrical stimulation. In addition, intracranial electrodes record a wide frequency range of electrical activity, which is not possible with scalp electrodes. The very slow potentials in ictal recordings, known as ictal direct current (DC) shifts and ictal/interictal high frequency oscillations, such as ripples (100-200 Hz) and fast ripples (200-500 Hz), have been correlated with the ictal onset zone and are a sensitive and specific marker for epileptogenicity. Furthermore, several studies reported that the electrical stimulation of epileptogenic zones elicited enhanced cortical evoked potentials, abnormal delayed or repetitive responses, and fast ripples. These responses may assist in the delineation of the epileptogenic cortex as a potential new marker. There are definite risks of complications associated with the use of intracranial electrodes. However, when an invasive evaluation is selected based on careful consideration of the risks and benefits, it provides useful information for establishing a strategy for epilepsy surgery. PMID:26948700

  17. Are There Any Specific EEG Findings in Autoimmune Epilepsies?

    Baysal-Kirac, Leyla; Tuzun, Erdem; Altindag, Ebru; Ekizoglu, Esme; Kinay, Demet; Bilgic, Basar; Tekturk, Pinar; Baykan, Betul

    2016-07-01

    This study evaluated the EEG findings of patients whose seizures were associated with a possible autoimmune etiology. Our aim was to find clues to distinguish patients with antineuronal antibodies (Ab) through EEG studies. We reviewed our database and identified antineuronal Ab positive epilepsy patients with or without autoimmune encephalitis. These patients had Abs to N-methyl-d-aspartate receptor (NMDAR) (n = 5), glycine receptor (GLY-R) (n = 5), contactin-associated protein-like 2 (CASPR-2) (n = 4), uncharacterized voltage-gated potassium channel complex (VGKC) antigens (n = 2), glutamic acid decarboxylase (GAD) (n = 2), Hu (n = 1), and amphiphysin (n = 1). The control group consisted of 21 seronegative epilepsy or encephalopathy patients with similar clinical features. EEG findings were compared between the groups in a blindfolded design. We did not find any significant difference in EEG findings between antineuronal Ab positive epilepsy patients and seronegative control group. It was remarkable that four seropositive but none of the seronegative patients presented with nonconvulsive status epilepticus (NCSE) or focal motor status epilepticus. Continuous theta and delta rhythms were observed in 5 (71%) seropositive patients with autoimmune encephalitis and 2 (25%) seronegative patients. Eight (40 %) seropositive patients showed a frontal intermittent rhythmic delta activity (FIRDA) pattern as opposed to 5 (24%) seronegative patients. Two patients with NMDAR Ab positivity showed rhythmic delta waves superimposed with beta frequency activity resembling "delta brush" pattern. EEG seems as a limited diagnostic tool in differentiating epilepsy and/or encephalopathy patients with a possible autoimmune etiology from those without. However, antineuronal Abs associated with encephalitis should be considered in the etiology of status epilepticus forms. A possible autoimmune etiology for seizures may be considered in the presence of continuous slow waves, FIRDA, and

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

    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.

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

    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.

  20. Isolated absence of right pulmonary artery

    Absence of right pulmonary artery (RPA) is a rare congenital abnormality with variable presentation. The diagnosis is often missed in infants The aim of this study was to describe infantile presentation of isolated absence of RPA along with a brief review of the literature. The details of five patients diagnosed with isolated absence of RPA from April 2007 to October 2009 were reviewed retrospectively 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. 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