Analysis of hormone-dependent pathology in female patients with juvenile myoclonic epilepsy

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D. V. Anisimova

2017-01-01

Full Text Available Objective: to study the characteristics of manifestations of hormonal abnormalities in women with juvenile myoclonic epilepsy (JME and to comparatively analyze identified syndromes.Patients and methods. Hormonal disorders were analyzed in 48 reproductive-aged women with JME, who had received antiepileptic drug (AED mono- and bitherapy during one or more years.Results. 66.7% of the patients were found to have ovarian hormonal dysfunction manifesting itself as the development of polycystic ovary syndrome, hypogonadism, isolated hyperandrogenism, and hypoprogesteronemia. Clinically detected syndromes frequently appeared as menstrual irregularity in 29% of the patients. Comparative analysis of hormone-dependent syndromes showed that there were no differences in the clinical features of JME, but the earliest age at onset in isolated hyperandrogenism, and no patients with menstrual irregularity in the presence of isolated hypoprogesteronemia. The use of different AEDs had no impact on the incidence of hormonal abnormalities, which requires further investigation and its inclusion of a greater number of patients receiving various AEDs. 

Altered glucose metabolism in juvenile myoclonic epilepsy: a PET study with statistical parametric mapping

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Lim, G. C.; Kim, J. H.; Kang, J. G.; Kim, J. S.; Yeo, J. S.; Lee, S. A.; Moon, D. H

2004-01-01

Juvenile myoclonic epilepsy (JME) is a hereditary, age-dependent epilepsy syndrome, characterized by myoclonic jerks on awakening and generalized tonic-clonic seizures. Although there have been considerable studies on the mechanism to elucidate pathogenesis of JME, the accurate pathogenesis of JME remains obscure. The aim of this study was to investigate alterations of cerebral glucose metabolism in patients with JME. We studied 16 JME patients (Mean age: 22 yrs, M/F: 9/7) with brain FDG-PET and simultaneous EEG recording. On the basis of the number of generalized spike-and-wave (GSW) discharges on the 30 min EEG recording after the injection of FDG (370MBq), we classified patients into two groups (patients in group A had 10 or more GSW and group B. 9 or less). We applied the automated and objective technique of statistical parametric mapping (SPM) to the analysis of FDG-PET to determine the significant hyper- and hypometabolic regions compared with those of 19 age matched normal control subjects. We found significant hypermetabolic regions in bilateral thalamus and central portion of upper brainstem in 16 patients with JME at a statistical threshold of uncorrected P < 0.05. These changes were also shown in group A (n=8), but not in group B (n=8). Additionally, we found significant hypometabolism in bilateral, widespread cortical regions in 16 patients with JME at a threshold of uncorrected P < 0.01. Similar hypometabolic patterns were also observed in both group A and group B, being more prominent in group A. This study provides evidence for the key role of the thalamus and brainstem reticular activating system in generating spontaneous GSW discharge, which is considered as a fundamental pathogenesis underlying JME. This study also suggests that patients with JME might suffer from subtle abnormalities of cognitive and executive cortical functions

Altered glucose metabolism in juvenile myoclonic epilepsy: a PET study with statistical parametric mapping

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Lim, G. C.; Kim, J. H.; Kang, J. G.; Kim, J. S.; Yeo, J. S.; Lee, S. A.; Moon, D. H [Asan Medical Center, Seoul (Korea, Republic of)

2004-07-01

Juvenile myoclonic epilepsy (JME) is a hereditary, age-dependent epilepsy syndrome, characterized by myoclonic jerks on awakening and generalized tonic-clonic seizures. Although there have been considerable studies on the mechanism to elucidate pathogenesis of JME, the accurate pathogenesis of JME remains obscure. The aim of this study was to investigate alterations of cerebral glucose metabolism in patients with JME. We studied 16 JME patients (Mean age: 22 yrs, M/F: 9/7) with brain FDG-PET and simultaneous EEG recording. On the basis of the number of generalized spike-and-wave (GSW) discharges on the 30 min EEG recording after the injection of FDG (370MBq), we classified patients into two groups (patients in group A had 10 or more GSW and group B. 9 or less). We applied the automated and objective technique of statistical parametric mapping (SPM) to the analysis of FDG-PET to determine the significant hyper- and hypometabolic regions compared with those of 19 age matched normal control subjects. We found significant hypermetabolic regions in bilateral thalamus and central portion of upper brainstem in 16 patients with JME at a statistical threshold of uncorrected P < 0.05. These changes were also shown in group A (n=8), but not in group B (n=8). Additionally, we found significant hypometabolism in bilateral, widespread cortical regions in 16 patients with JME at a threshold of uncorrected P < 0.01. Similar hypometabolic patterns were also observed in both group A and group B, being more prominent in group A. This study provides evidence for the key role of the thalamus and brainstem reticular activating system in generating spontaneous GSW discharge, which is considered as a fundamental pathogenesis underlying JME. This study also suggests that patients with JME might suffer from subtle abnormalities of cognitive and executive cortical functions.

Late onset myoclonic epilepsy in Down syndrome and dementia

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Annapia Verri

2012-09-01

Full Text Available Specific forms of epilepsy may be found at various ages in Down Syndrome (DS and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS. We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR. MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008 demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009 showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject.

Frontal lobe epilepsy may present as myoclonic seizures.

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Cho, Yong Won; Yi, Sang Doe; Motamedi, Gholam K

2010-04-01

We describe a patient with seizures arising from right anterior-inferior frontal lobe presenting as myoclonic epilepsy. A 19-year-old man had experienced frequent paroxysmal bilateral myoclonic jerks involving his upper arms, shoulders, neck, and upper trunk since the age of 10. His baseline EEG showed intermittent right frontal spikes, and his ictal EEG showed rhythmic sharp theta discharges in the same area. MRI revealed cortical dysplasia in the right inferior frontal gyrus, and ictal-interictal SPECT analysis by SPM showed increased signal abnormality in this region. Diffusion tensor imaging (DTI) showed defects in fasciculi in the same area. These findings suggest that frontal lobe epilepsy should be considered in some patients with myoclonic seizures. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Heterogeneity of anatomic regions by MR volumetry in juvenile myoclonic epilepsy.

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Swartz, B E; Spitz, J; Vu, A L; Mandelkern, M; Su, M L

2016-10-01

To investigate brain volumes in patients with well-characterized juvenile myoclonic epilepsy (JME). We studied the MRI images of seventeen subjects with EEG and clinically defined JME and seventeen age- and sex-matched controls using voxel-based morphometry (VBM) and automated and manual volumetry. We found no significant group differences in the cortical volumes by automated techniques for all regions or for the whole brain. However, we found a larger pulvinar nucleus in JME using VBM with small volume correction and a larger thalamus with manual volumetry (P = 0.001; corrected two-tailed t-test). By analysing the individual subjects, we determined that considerable heterogeneity exists even in this highly selected group. Histograms of all JME and matched control regions' volumes showed more subjects with JME had smaller hippocampi and larger thalami (P < 0.05; chi-square). Subjects in whom the first seizure was absence were more likely to have smaller hippocampi than their matched control, while those without absences showed no differences (P < 0.05, chi-square). There is ample evidence for frontal cortical thalamic network changes in JME, but subcortical structural differences were more distinct in this group. Given the heterogeneity of brain volumes in the clinical population, further advancement in the field will require the examination of stringent genetically controlled populations. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus

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Nijs, Laurence de; Lakaye, Bernard; Coumans, Bernard; Leon, Christine; Ikeda, Takashi; Delgado-Escueta, Antonio V.; Grisar, Thierry; Chanas, Grazyna

2006-01-01

A novel gene, EFHC1, mutated in juvenile myoclonic epilepsy (JME) encodes a protein with three DM10 domains of unknown function and one putative EF-hand motif. To study the properties of EFHC1, we expressed EGFP-tagged protein in various cell lines. In interphase cells, the fusion protein was present in the cytoplasm and in the nucleus with specific accumulation at the centrosome. During mitosis EGFP-EFHC1 colocalized with the mitotic spindle, especially at spindle poles and with the midbody during cytokinesis. Using a specific antibody, we demonstrated the same distribution of the endogenous protein. Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

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Palmer, Samantha; Towne, Meghan C; Pearl, Phillip L; Pelletier, Renee C; Genetti, Casie A; Shi, Jiahai; Beggs, Alan H; Agrawal, Pankaj B; Brownstein, Catherine A

2016-11-01

Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants in the SLC6A1 gene. Epilepsy with myoclonic-atonic seizures is often refractory to antiepileptic drugs, and the ketogenic diet is known for treating medically intractable seizures, although the mechanism of action is largely unknown. We report a novel SLC6A1 variant in a patient with epilepsy with myoclonic-atonic seizures, analyze its effects, and suggest a mechanism of action for the ketogenic diet. We describe a ten-year-old girl with epilepsy with myoclonic-atonic seizures and a de novo SLC6A1 mutation who responded well to the ketogenic diet. She carried a c.491G>A mutation predicted to cause p.Cys164Tyr amino acid change, which was identified using whole exome sequencing and confirmed by Sanger sequencing. High-resolution structural modeling was used to analyze the likely effects of the mutation. The SLC6A1 gene encodes a transporter that removes gamma-aminobutyric acid from the synaptic cleft. Mutations in SLC6A1 are known to disrupt the gamma-aminobutyric acid transporter protein 1, affecting gamma-aminobutyric acid levels and causing seizures. The p.Cys164Tyr variant found in our study has not been previously reported, expanding on the variants linked to epilepsy with myoclonic-atonic seizures. A 10-year-old girl with a novel SLC6A1 mutation and epilepsy with myoclonic-atonic seizures had an excellent clinical response to the ketogenic diet. An effect of the diet on gamma-aminobutyric acid reuptake mediated by gamma-aminobutyric acid transporter protein 1 is suggested. A personalized approach to epilepsy with myoclonic-atonic seizures patients carrying SLC6A1 mutation and a relationship between epilepsy with myoclonic-atonic seizures due to SLC6A1 mutations, GABAergic drugs, and the ketogenic diet warrants further exploration. Copyright © 2016 Elsevier Inc. All rights reserved.

Myoclonic epilepsy in Down syndrome and Alzheimer disease.

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Aller-Alvarez, J S; Menéndez-González, M; Ribacoba-Montero, R; Salvado, M; Vega, V; Suárez-Moro, R; Sueiras, M; Toledo, M; Salas-Puig, J; Álvarez-Sabin, J

2017-03-01

Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges. We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed. In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam. The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Personality traits related to juvenile myoclonic epilepsy: MRI reveals prefrontal abnormalities through a voxel-based morphometry study.

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de Araújo Filho, Gerardo Maria; Jackowski, Andrea Parolin; Lin, Katia; Guaranha, Mirian S B; Guilhoto, Laura M F F; da Silva, Henrique Hattori; Caboclo, Luís Otávio Sales Ferreira; Júnior, Henrique Carrete; Bressan, Rodrigo Affonseca; Yacubian, Elza Márcia T

2009-06-01

Studies involving juvenile myoclonic epilepsy (JME) patients have demonstrated an elevated prevalence of cluster B personality disorders (PD) characterized as emotional instability, immaturity, unsteadiness, lack of discipline, and rapid mood changes. We aimed to verify a possible correlation between structural brain abnormalities in magnetic resonance image (MRI) and the PD in JME using voxel-based morphometry (VBM). Sixteen JME patients with cluster B PD, 38 JME patients without psychiatric disorders, and 30 healthy controls were submitted to a psychiatric evaluation through SCID I and II and to a MRI scan. Significant reduction in thalami and increase in mesiofrontal and frontobasal regions' volumes were observed mainly in JME patients with PD. Structural alterations of the orbitofrontal cortex (OFC), involved in regulation of mood reactivity, impulsivity, and social behavior, were also observed. This study supports the hypothesis of frontobasal involvement in the pathophysiology of cluster B PD related to JME.

Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study

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Chengqing Zhong

2018-01-01

Full Text Available The aim of this study was to investigate the structural and functional connectivity (FC of juvenile myoclonic epilepsy (JME using resting state functional magnetic resonance imaging (rs-fMRI. High-resolution T1-weighted magnetic resonance imaging (MRI and rs-fMRI data were collected in 25 patients with JME and in 24 control subjects. A FC analysis was subsequently performed, with seeding at the regions that demonstrated between-group differences in gray matter volume (GMV. Then, the observed structural and FCs were associated with the clinical manifestations. The decreased GMV regions were found in the bilateral anterior cerebellum, the right orbital superior frontal gyrus, the left middle temporal gyrus, the left putamen, the right hippocampus, the bilateral caudate, and the right thalamus. The changed FCs were mainly observed in the motor-related areas and the cognitive-related areas. The significant findings of this study revealed an important role for the cerebellum in motor control and cognitive regulation in JME patients, which also have an effect on the activity of the occipital lobe. In addition, the changed FCs were related to the clinical features of JME patients. The current observations may contribute to the understanding of the pathogenesis of JME.

Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone.

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Anastasopoulou, Stavroula; Kurth, Florian; Luders, Eileen; Savic, Ivanka

2017-01-01

The definition of two well-studied genetic generalized epilepsy syndromes (GGE) - juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures alone (GTCS) - suggests the absence of structural cerebral abnormalities. Nevertheless, there are various reports of such abnormalities (especially in JME), where effects mainly occur within thalamus and mesial prefrontal regions. This raises the question of whether JME is particularly linked to midline structure abnormalities, which may also involve the corpus callosum. We studied callosal morphology in a well-matched sample of 22 JME patients, 15 GTCS patients, and 42 controls (CTL) for all of whom we obtained T1-weighted data on a 3T MRI scanner. More specifically, we measured callosal thickness at 100 equidistant points across the callosal surface, and subsequently compared the three groups (JME, GTCS, and CTL) against each other. Significant differences between JME patients and controls were observed within the callosal genu, anterior midbody, and isthmus, with thinner regions in JME patients. There were no significant differences between GTCS patients and controls, and also not between JME patients and GTCS patients. The present outcomes point to callosal abnormalities in JME patients suggesting an impairment of interhemisperic communication between prefrontal, motor, parietal and temporal cortices. These findings further support the notion that structural aberrations are present and differentiated across GGE syndromes, with significant callosal deviations from normality in JME. Copyright © 2016 Elsevier B.V. All rights reserved.

Structural Brain Abnormalities in Juvenile Myoclonic Epilepsy Patients: Volumetry and Voxel-Based Morphometry

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Tae, Woo Suk; Hong, Seung Bong; Joo, Eun Yun

2006-01-01

We aimed to find structural brain abnormalities in juvenile myoclonic epilepsy (JME) patients. The volumes of the cerebrum, hippocampus and frontal lobe and the area of the corpus callosum's subdivisions were all semiautomatically measured, and then optimized voxel-based morphometry (VBM) was performed in 19 JME patients and 19 age/gender matched normal controls. The rostrum and rostral body of the corpus callosum and the left hippocampus were significantly smaller than those of the normal controls, whereas the volume of the JME's left frontal lobe was significantly larger than that of the controls. The area of the rostral body had a significant positive correlation with the age of seizure onset (r=0.56, p=0.012), and the volume of the right frontal lobe had a significant negative correlation with the duration of disease (r=-0.51, p=0.025). On the VBM, the gray matter concentration of the prefrontal lobe (bilateral gyri rectus, anterior orbital gyri, left anterior middle frontal gyrus and right anterior superior frontal gyrus) was decreased in the JME group (corrected p<0.05). The JME patients showed complex structural abnormalities in the corpus callosum, frontal lobe and hippocampus, and also a decreased gray matter concentration of the prefrontal region, which all suggests there is an abnormal neural network in the JME brain

Structural Brain Abnormalities in Juvenile Myoclonic Epilepsy Patients: Volumetry and Voxel-Based Morphometry

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Tae, Woo Suk; Hong, Seung Bong [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Joo, Eun Yun [Ewha Womans University, Seoul (Korea, Republic of)

2006-09-15

We aimed to find structural brain abnormalities in juvenile myoclonic epilepsy (JME) patients. The volumes of the cerebrum, hippocampus and frontal lobe and the area of the corpus callosum's subdivisions were all semiautomatically measured, and then optimized voxel-based morphometry (VBM) was performed in 19 JME patients and 19 age/gender matched normal controls. The rostrum and rostral body of the corpus callosum and the left hippocampus were significantly smaller than those of the normal controls, whereas the volume of the JME's left frontal lobe was significantly larger than that of the controls. The area of the rostral body had a significant positive correlation with the age of seizure onset (r=0.56, p=0.012), and the volume of the right frontal lobe had a significant negative correlation with the duration of disease (r=-0.51, p=0.025). On the VBM, the gray matter concentration of the prefrontal lobe (bilateral gyri rectus, anterior orbital gyri, left anterior middle frontal gyrus and right anterior superior frontal gyrus) was decreased in the JME group (corrected p<0.05). The JME patients showed complex structural abnormalities in the corpus callosum, frontal lobe and hippocampus, and also a decreased gray matter concentration of the prefrontal region, which all suggests there is an abnormal neural network in the JME brain.

Proton spectroscopy of the thalamus in a homogeneous sample of patients with easy-to-control juvenile myoclonic epilepsy

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Leite, Claudia da Costa; Valente, Kette Dualibi Ramos; Fiore, Lia Arno; Otaduy, Maria Concepcion Garcia, E-mail: claudia.leite@hc.fm.usp.br [Universidade de Sao Paulo (FM/USP), Sao Paulo, SP (Brazil). Faculdade de Medicina

2017-09-15

Objective: Juvenile myoclonic epilepsy (JME) is a subtype of genetically determined generalized epilepsy that does not present abnormalities on conventional magnetic resonance imaging. The aim of this study was to identify metabolic alterations in the thalamus in a clinically homogeneous sample of patients with easy-to-control JME, using short-echo time proton magnetic resonance spectroscopy (MRS). Materials and Methods: We performed single-voxel (2 cm × 2 cm × 2 cm), short-echo time (TE = 35 ms) proton MRS of the thalamus in 21 patients with JME and in 14 healthy age-matched controls. We quantified N-acetylaspartate (NAA), total NAA, creatine (Cr), choline, and myo-inositol (MI), as well as the sum of glutamate and glutamine signals, all scaled to internal water content, and we calculated metabolite ratios using Cr as a reference. Values of p < 0.05 were considered significant. Results: The MI level and the MI/Cr ratio were significantly lower in the thalami of patients diagnosed with JME than in those of the controls. Other metabolites and their ratios did not differ significantly between the two groups. Conclusion: In our sample of 21 JME patients, we identified lower levels of MI in the thalamus. No significant abnormalities were observed in the concentrations or ratios of other metabolites. (author)

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review

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Dominique Endres

2018-05-01

Full Text Available Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative. Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear.Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy.Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review.

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Endres, Dominique; Altenmüller, Dirk-M; Feige, Bernd; Maier, Simon J; Nickel, Kathrin; Hellwig, Sabine; Rausch, Jördis; Ziegler, Christiane; Domschke, Katharina; Doerr, John P; Egger, Karl; Tebartz van Elst, Ludger

2018-01-01

Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear. Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam) also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy. Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the framework of

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

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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

Progressive myoclonic epilepsies

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

2014-01-01

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

Impact of family support on psychiatric disorders and seizure control in patients with juvenile myoclonic epilepsy.

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Jayalakshmi, Sita; Padmaja, Gaddamanugu; Vooturi, Sudhindra; Bogaraju, Anand; Surath, Mohandas

2014-08-01

Psychiatric disorders (PDs) are frequently observed in patients with juvenile myoclonic epilepsy (JME). In this study, we aimed to assess factors associated with PDs in patients with JME. Retrospective analysis of data of 90 consecutive patients with JME was performed. Assessment of DSM-IV Axis I clinical disorders was done using Structured Clinical Interview for Axis I. Diagnosis of PDs is made when the score exceeds the threshold provided by the DSM-IV. We also applied the Global Assessment of Functioning (GAF) scale which is part of the multiaxial evaluation of the DSM-IV (Axis-V). Using seizure frequency score at presentation, we classified subjects into controlled and uncontrolled groups. In the current cohort, 29 (32.2%) patients were diagnosed with PDs. Fewer patients with PDs had family support (48.3% vs. 83.6%; p=0.001). Lifetime prevalence of PDs was higher among patients with current PDs (96.6% vs. 18.0%; pseizure control (7.8% vs. 73.1%; pseizure control. Patients with lack of family support had poor seizure control (0% vs. 36.9%; pseizure control and higher incidence of PDs in patients with JME. Lack of family support increases neither the odds of PDs nor seizure control. Copyright © 2014 Elsevier Inc. All rights reserved.

Provocative and inhibitory effects of a video-EEG neuropsychologic protocol in juvenile myoclonic epilepsy.

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Guaranha, Mirian Salvadori Bittar; da Silva Sousa, Patrícia; de Araújo-Filho, Gerardo Maria; Lin, Katia; Guilhoto, Laura Maria Figueiredo Ferreira; Caboclo, Luís Otávio Sales Ferreira; Yacubian, Elza Márcia Targas

2009-11-01

Studies suggest that higher cognitive functions could precipitate seizures in juvenile myoclonic epilepsy (JME). The present study aimed to analyze the effects of higher mental activity on epileptiform discharges and seizures in patients with JME and compare them to those of habitual methods of activation. Seventy-six patients with JME (41 female) underwent a video-EEG (electroencephalography) neuropsychologic protocol (VNPP) and habitual methods of activation for 4-6 h. Twenty-nine of the 76 (38.2%) presented provocative effect, and inhibition was seen in 28 of 31 (90.3%). A mixed effect was observed in 11 (35.5%), and 30 patients (39.5%) suffered no effect of VNPP. Action-programming tasks were more effective than thinking in provoking epileptiform discharges (23.7% and 11.0% of patients, respectively, p = 0.03). Inhibitory effect was observed equally in the various categories of tasks, except in mental calculation, which had a higher inhibitory rate. Habitual methods of activation were more effective than VNPP in provoking discharges. Anxiety disorders were diagnosed in 24 of 58 patients (41.4%); anxious patients had greater discharge indexes and no significant inhibitory effect on VNPP. Praxis exerted the most remarkable provocative effect, in accordance with the motor circuitry hyperexcitability hypothesis in JME. Inhibitory effect, which had no such task specificity, might be mediated by a widespread cortical-thalamic pathway, possibly involving the parietal cortex. The frequent inhibitory effect found under cortical activation conditions, influenced by the presence of anxiety, supports nonpharmacologic therapeutic interventions in JME.

Hyperconnectivity in juvenile myoclonic epilepsy: A network analysis

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K. Caeyenberghs, PhD

2015-01-01

Conclusions: Our findings suggest that structural changes in JME patients are distributed at a network level, beyond the frontal lobes. The identified subnetwork includes key structures in spike wave generation, along with primary motor areas, which may contribute to myoclonic jerks. We conclude that analyzing the affected subnetworks may provide new insights into understanding seizure generation, as well as the cognitive deficits observed in JME patients.

Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study.

Science.gov (United States)

de Araújo Filho, Gerardo Maria; Lin, Katia; Lin, Jaime; Peruchi, Mirella M; Caboclo, Luís Otávio S F; Guaranha, Mirian S B; Guilhoto, Laura M F F; Carrete, Henrique; Yacubian, Elza Márcia T

2009-05-01

Personality traits characterized by emotional instability and immaturity, unsteadiness, lack of discipline, hedonism, frequent and rapid mood changes, and indifference toward one's disease have been associated with patients who have juvenile myoclonic epilepsy (JME). Literature data demonstrate worse seizure control and more psychosocial dysfunctions among patients with JME who have those traits. In this controlled study we performed a correlation analysis of psychiatric scores with magnetic resonance spectroscopy (MRS) values across JME patients, aiming to verify the existence of a possible relation between frontal lobe dysfunction and the prevalence of personality disorders (PDs) in JME. Sixteen JME patients with cluster B PDs, 41 JME patients without any psychiatric disorder, and 30 healthy controls were submitted to a psychiatric evaluation and to a quantitative multivoxel MRS of thalamus; insula; cingulate gyrus; striatum; and frontal, parietal, and occipital lobes. Groups were homogeneous according to age, gender, and manual dominance. Psychiatric evaluation was performed through the Scheduled Clinical Interview for DSM-IV, Axis I and II (SCID I and II, respectively). A significant reduction of N-acetyl-aspartate over creatinine (NAA/Cr) ratio was observed mainly in the left frontal lobe in the JME and PD group. In addition, a significant increase in the glutamate-glutamine over creatinine GLX/Cr ratio was also observed in this referred region in the same group. These data support the hypothesis that PDs in JME could represent neuronal dysfunction and possibly a more severe form of this epileptic syndrome.

Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report.

Science.gov (United States)

Lv, Yudan; Zhang, Nan; Liu, Chang; Shi, Mingchao; Sun, Li

2018-04-01

Progressive myoclonic epilepsy (PME) is rare epilepsy syndrome. Although EEG is a useful neurophysiological technique in the evaluation of epilepsy, few EEG abnormalities have been described in PME. So, how to use EEG hints to establish the suspected diagnosis of PME as soon as possible should be addressed. We presented a case with refractory myoclonic seizures, and progressive neurological deterioration, diagnosed as PME and neuronal ceroid lipofuscinosis disease by gene testing. The patient manifested with a significant regression in her speech ability and motor balance. The mini-mental state examination showed poor scores of 15/30. The magnetic resonance imaging showed diffused atrophy. Her EEG showed slow background with continuous occipital small spikes and photosensitivity. The following genetic testing with mutation in CLN6 confirmed the diagnosis and excluded the occipital epilepsy. Our case showed rare manifestations and special EEG features of PME, which may be confused with occipital epilepsy or photosensitive epilepsy. Thus, if the continuous occipital spikes and photosensitivity were presented in a patient with refractory seizures and developmental regression, PME should be considered.

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Science.gov (United States)

Poulat, Anne-Lise; Ville, Dorothée; de Bellescize, Julitta; André-Obadia, Nathalie; Cacciagli, Pierre; Milh, Mathieu; Villard, Laurent; Lesca, Gaetan

2015-03-01

Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures. Patients presented with isolated bilateral or focal myoclonia, which could evolve to long-lasting attacks without loss of consciousness, with a peculiar reflex component, and were associated with generalized tonic-clonic seizures. This entity was named "familial infantile myoclonic epilepsy" (FIME). More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic deafness, and DOORS syndrome. We report on the electro-clinical features of two brothers, born to first-cousin parents, affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography, lasting a few minutes to several hours, without loss of consciousness, which frequently evolved to generalized myoclonus or myoclonic status. Reflex myoclonia were noticed in one patient. Neurological outcome was marked by moderate intellectual disability. Despite the high frequency of seizures, repeated EEG recordings showed normal background rhythm and rare interictal spikes and waves. We found a homozygous missense mutation, c.457G>A/p.Glu153Lys, in the two affected brothers. This observation combined with recent data from the literature, suggest that mutations in TBCD24 cause a pathological continuum, with FIME at the "benign" end and severe drug-refractory epileptic encephalopathy on the severe end. Early-onset myoclonic epilepsy with focal and generalized myoclonic seizures is a common characteristic of this continuum. Copyright © 2015 Elsevier B.V. All rights reserved.

Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

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Sarvi Sharifi

2012-08-01

Full Text Available Background: Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch familial cortical myoclonic tremor with epilepsy case and review the literature on this syndrome.Methods: Neuropathological investigations were performed for a third case of the Dutch pedigree. In addition, we searched the literature for pedigrees meeting the criteria for benign familial myoclonic tremor and epilepsy.Results: Our third Dutch case showed cerebellar Purkinje cell changes and a normal cerebral cortex. The pedigrees described show phenotypical differences, cerebellar symptoms and cerebellar atrophy to a variable degree. Japanese pedigrees with linkage to chromosome 8q have been reported with milder disease features than members of Italian pedigrees with linkage to chromosome 2p. French pedigrees (5p possibly show even more severe and progressive disease, including cognitive changes and cerebellar features.Discussion: Currently, familial cortical myoclonic tremor is not listed by the International League Against Epilepsy, although it can be differentiated from other epileptic syndromes. Genetic heterogeneity and phenotypical differences between pedigrees exist. Cerebellar changes seem to be part of the syndrome in at least a number of pedigrees.

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

DEFF Research Database (Denmark)

Häusler, M; Kluger, G; Nikanorova, M

2011-01-01

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

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

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Domańska Martyna

2015-06-01

Full Text Available Introduction. Myoclonic epilepsy with ragged red fibers (MERRF is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed.

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

DEFF Research Database (Denmark)

Mosbech, Mai-Britt; Olsen, Anne S B; Neess, Ditte

2014-01-01

between genes involved in SL metabolism and epilepsy. METHODS: We used quantitative real-time PCR, Western blotting, and enzymatic assays to determine the mRNA, protein, and activity levels of ceramide synthase 2 (CERS2) in fiibroblasts isolated from parental control subjects and from a patient diagnosed...... with progressive myoclonic epilepsy (PME). Mass spectrometry and fluorescence microscopy were used to examine the effects of reduced CERS2 activity on cellular lipid composition and plasma membrane functions. RESULTS: We identify a novel 27 kb heterozygous deletion including the CERS2 gene in a proband diagnosed...... with PME. Compared to parental controls, levels of CERS2 mRNA, protein, and activity were reduced by ˜50% in fibroblasts isolated from this proband, resulting in significantly reduced levels of ceramides and sphingomyelins containing the very long-chain fatty acids C24:0 and C26:0. The change in SL...

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Science.gov (United States)

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

2014-02-04

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

Effect of valproate on the sleep microstructure of juvenile myoclonic epilepsy patients - a cross-sectional CAP based study.

Science.gov (United States)

Nayak, Chetan S; Sinha, Sanjib; Nagappa, Madhu; Kandavel, Thennarasu; Taly, Arun B

2016-01-01

Studies looking at the effect of anti-epileptic medications on sleep microstructure of patients with epilepsy are almost non-existent. The aim of this study was to compare sleep microstructural characteristics of drug-naïve juvenile myoclonic epilepsy (JME) patients with those on valproate (VPA) monotherapy. Three age- (p = 0.287) and gender- (p = 0.766) matched groups (N = 20 in each group): (1) drug-naïve JME (mean age: 21.2 ± 4.06 years; M : F = 9:11); (2) JME on VPA (mean age: 21.85 ± 4.28 years; M : F = 11:9); (3) healthy controls (mean age: 23.2 ± 3.82 years; M : F = 9:11) underwent overnight polysomnography. Scoring and analysis of arousals American Sleep Disorders Association (ASDA, 2002), cyclic alternating pattern (CAP) (Terzano et al., 2002) parameters were performed. Comparison of arousal and CAP parameters was performed using one-way ANOVA, followed by pairwise comparisons using Fisher's LSD test (p ≤ 0.05). Rapid eye movement (REM) arousal indices were higher in JME patients (Group 1 [p = 0.002] and Group 2 [p <0.001]), whereas the overall and NREM arousal indices were comparable between the three groups. CAP rate was higher in JME patients as compared to controls (p <0.001). Duration of phase A and its subtypes (p <0.001) was reduced in drug-naïve patients as compared to VPA group and controls. Finally, percentage of phase A1 (p = 0.003) was decreased and A3 (p = 0.045) was increased in drug-naïve patients as compared to VPA group and controls. We found significant alterations in REM arousal indices and several CAP parameters in JME patients. However, many of these alterations were not seen in the valproate group. This might indicate that anti-epileptic medications such as valproate may beneficially modulate arousal instability in JME patients, and hence promote sleep quality and continuity. Copyright © 2015 Elsevier B.V. All rights reserved.

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

NARCIS (Netherlands)

van den Ende, Tom; Sharifi, Sarvi; van der Salm, Sandra M. A.; van Rootselaar, Anne-Fleur

2018-01-01

Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological

Genetic and bibliographic information: Acp1 [GenLibi

Lifescience Database Archive (English)

Full Text Available Acp1 acid phosphatase 1, soluble rat Myoclonic Epilepsy, Juvenile (MeSH) Nervous Sy...stem Diseases (C10) > Central Nervous System Diseases (C10.228) > Brain Diseases (C10.228.140) > Epilepsy (C...10.228.140.490) > Epilepsies, Myoclonic (C10.228.140.490.250) > Myoclonic Epilepsy, Juvenile (C10.228.140.490.250.670) 05A0446636 ...

Genetic and bibliographic information: CLCN2 [GenLibi

Lifescience Database Archive (English)

Full Text Available CLCN2 chloride channel 2 human Myoclonic Epilepsy, Juvenile (MeSH) Nervous System D...iseases (C10) > Central Nervous System Diseases (C10.228) > Brain Diseases (C10.228.140) > Epilepsy (C10.228....140.490) > Epilepsies, Myoclonic (C10.228.140.490.250) > Myoclonic Epilepsy, Juvenile (C10.228.140.490.250.670) 05A0446636 ...

Genetic and bibliographic information: GABRD [GenLibi

Lifescience Database Archive (English)

Full Text Available GABRD gamma-aminobutyric acid (GABA) A receptor, delta human Myoclonic Epilepsy, Ju...venile (MeSH) Nervous System Diseases (C10) > Central Nervous System Diseases (C10.228) > Brain Diseases (C10.228.140) > Epilepsy... (C10.228.140.490) > Epilepsies, Myoclonic (C10.228.140.490.250) > Myoclonic Epilepsy, Juvenile (C10.228.140.490.250.670) 05A0446636 ...

Genetic and bibliographic information: GABRA1 [GenLibi

Lifescience Database Archive (English)

Full Text Available GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 human Myoclonic Epilepsy,... Juvenile (MeSH) Nervous System Diseases (C10) > Central Nervous System Diseases (C10.228) > Brain Diseases (C10.228.140) > Epilepsy... (C10.228.140.490) > Epilepsies, Myoclonic (C10.228.140.490.250) > Myoclonic Epilepsy, Juvenile (C10.228.140.490.250.670) 05A0446636 ...

Myoclonic epilepsy of late onset in trisomy 21 Epilepsia mioclônica de início tardio na trissomia 21

Directory of Open Access Journals (Sweden)

Lm. Li

1995-12-01

Full Text Available We report the case of a patient with trisomy 21 (T21 with late onset epilepsy. The electro-clinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.Pacientes com trissomia do cromossoma 21 (T21, com o passar dos anos, são propensos a desenvolver crises epilépticas parciais concomitantes ao aparecimento de degeneração cerebral do tipo Alzheimer. Pacientes com T21 e demência parecem ter risco maior de apresentarem crises epilépticas que outros pacientes com degeneração cerebral do tipo Alzheimer. O caso relatado é de um paciente com T21 com epilepsia de início tardio. A história clínica consiste de crises mioclônicas ao despertar, ocasionais crises generalizadas tônico-clônicas, demência e ponta onda generalisada no EEG. Demência do tipo Alzheimer familial é ligada ao cromossoma 21, bem como epilepsia mioclônica progressiva (tipo Unverricht-Lundborg. Isto sugere que este caso possa representar um tipo distinto de epilepsia mioclônica progressiva, ligado ao cromossoma 21.

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

DEFF Research Database (Denmark)

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

2009-01-01

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

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy.

Science.gov (United States)

Iannetti, Paola; Parisi, Pasquale; Spalice, Alberto; Ruggieri, Martino; Zara, Federico

2009-07-01

We report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome, a channelopathy caused by abnormalities in the voltage-gated sodium channel neuronal type alpha1 subunit (SCN1A) gene at 2q24. Both girls had pharmacoresistant epilepsy and developmental delay. Mutation analysis for the SCN1A gene revealed a missense mutation in exon 2 in the 4-year-old girl. Verapamil was co-administered in both children with a prompt response in controlling status epilepticus, myoclonic jerks, and partial and generalized seizures. The therapeutic effect lasted 13 months in the 14-year-old girl, while it is still present after a 20-month follow-up period in the 4-year-old girl who, in addition, has experienced improvement in motor and language development. The verapamil vVg-CCB, which crosses the blood-brain barrier (BBB): (a) inhibits the P-glycoprotein, an active efflux transporter protein expressed in normal tissue, including the brain, which is believed to contribute to the in situ phenomenon of multidrug resistance; and (b) may regulate membrane depolarization induced by abnormal sodium channels functions by modulating the abnormal Ca++ influxes into neurons with subsequent cell resting. This is the first report on long-lasting verapamil therapy in SMEI. The functional consequences of such in vivo modulating effects on Ca++ channels could contribute to rational targeting for future molecular therapeutic approaches in pharmacoresistant epileptic channelopathies.

Validity and reliability of the Portuguese-Brazilian version of the Quality of Life in Epilepsy Inventory-89.

Science.gov (United States)

Azevedo, Auro Mauro; Alonso, Neide Barreira; Vidal-Dourado, Marcos; Noffs, Maria Helena da Silva; Pascalicchio, Tatiana Frascarelli; Caboclo, Luís Otávio Sales Ferreira; Ciconelli, Rozana Mesquita; Sakamoto, Américo Ceiki; Yacubian, Elza Márcia Targas

2009-03-01

The purpose of this article was to report the translation of the Quality of Life in Epilepsy Inventory-89 (QOLIE-89) into a Portuguese-Brazilian version and evaluate its reliability and validity. This study involved 105 outpatients: 54 patients with refractory temporal lobe epilepsy (TLE) with mesial temporal sclerosis (MTS) and 51 with juvenile myoclonic epilepsy (JME). Reliability and test-retest reliability were assessed. Relationships between QOLIE-89 domains and other questionnaires (Nottingham Health Profile, Beck Depression Inventory, Adverse Event Profile, Neuropsychological Evaluation), and external measures such as demographic and clinical variables were analyzed to examine construct validity. Internal consistency (Cronbach's alpha=0.73-0.92) and test-retest reliability (intraclass correlation coefficient=0.60-0.84) for individual domains were acceptable. For construct validity, we verified high correlations between the QOLIE-89 and the Nottingham Health Profile, Beck Depression Inventory, Adverse Event Profile, and Neuropsychological Evaluation. For clinical characteristics, the patients with juvenile myoclonic epilepsy had better quality-of-life scores on 11 of 17 QOLIE-89 subscales compared with patients with temporal lobe epilepsy (P<0.05). These results support the reliability and validity of the Portuguese-Brazilian translation of QOLIE-89.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families ... for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy ... Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences ...

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

Science.gov (United States)

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

2014-04-01

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

The ketogenic diet in two paediatric patients with refractory myoclonic status epilepticus.

Science.gov (United States)

Caraballo, Roberto Horacio; Valenzuela, Gabriela Reyes; Armeno, Marisa; Fortini, Sebastian; Mestre, Graciela; Cresta, Araceli

2015-12-01

We describe two patients with refractory myoclonic status epilepticus treated with the ketogenic diet. Between May 1, 2014 and January 1, 2015, two patients who met the diagnostic criteria for refractory myoclonic status epilepticus, seen at our department, were placed on the ketogenic diet and followed for a minimum of six months. One patient with myoclonic epilepsy of unknown aetiology had a 75-90% seizure reduction, and the other with progressive encephalopathy associated with myoclonic epilepsy had a 50% seizure reduction. Both patients retained good tolerability for the diet. At the last control, one patient had isolated myoclonias and EEG showed occasional generalized spike-and-polyspike waves; the patient is now successfully attending kindergarten. The quality of life of the second patient improved significantly. In both cases, the number of antiepileptic drugs was reduced. The ketogenic diet is an effective and well-tolerated treatment option for patients with refractory myoclonic status epilepticus and should be considered earlier in the course of treatment.

Disease: H00808 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available epsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized to...:K04865] (FIME) TBC1D24 [HSA:57465] [KO:K21841] ... EEG monitoring ... The International League Against Epilepsy

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

DEFF Research Database (Denmark)

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

. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. SME is considered to be the most severe phenotype within the spectrum of GEFS+. SME is a malignant epileptic...... and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end Patients and methods 87 infants representing GEFS+ were analyzed by bidirectional sequencing of all exons of the SCN1A, SCN2A, GABRG2 or SCN1B genes. Additionally, MLPA analysis of SCN1A was performed. Results...... to the SMEI phenotype represent de novo incidences....

Guidelines for imaging infants and children with recent-onset epilepsy

International Nuclear Information System (INIS)

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

2009-01-01

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

Guidelines for imaging infants and children with recent-onset epilepsy

Energy Technology Data Exchange (ETDEWEB)

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

2009-07-01

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

Transcranial Alternating Current Stimulation: A potential risk for genetic generalized epilepsy patients (Study Case

Directory of Open Access Journals (Sweden)

Daniel San Juan Orta

2016-11-01

Full Text Available Transcranial alternating current stimulation (tACS is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to three antiepileptic’s drugs characterized by four myoclonic and 20 absence seizures monthly. She received tACS at 1mA@3Hz pulse train during 60 minutes over Fp1-Fp2 (10-20 EEG international system position during 4 consecutive days using an Endeavor™ IOM Systems device® (Natus Medical Incorporated, Middleton, WI, USA. At the one-month follow-up, she reported a 75% increase in seizures frequency (only myoclonic and tonic-clonic events and developed a 24h myoclonic status epilepticus that resolved with oral clonazepam and intravenous valproate. At the two-month follow-up, the patient reported a 15-day seizure-free period.

Transcranial Alternating Current Stimulation: A Potential Risk for Genetic Generalized Epilepsy Patients (Study Case)

Science.gov (United States)

San-Juan, Daniel; Sarmiento, Carlos Ignacio; Hernandez-Ruiz, Axel; Elizondo-Zepeda, Ernesto; Santos-Vázquez, Gabriel; Reyes-Acevedo, Gerardo; Zúñiga-Gazcón, Héctor; Zamora-Jarquín, Carol Marina

2016-01-01

Transcranial alternating current stimulation (tACS) is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to 3 antiepileptic’s drugs characterized by 4 myoclonic and 20 absence seizures monthly. She received tACS at 1 mA at 3 Hz pulse train during 60 min over Fp1–Fp2 (10–20 EEG international system position) during 4 consecutive days using an Endeavor™ IOM Systems device® (Natus Medical Incorporated, Middleton, WI, USA). At the 1-month follow-up, she reported a 75% increase in seizures frequency (only myoclonic and tonic–clonic events) and developed a 24-h myoclonic status epilepticus that resolved with oral clonazepam and intravenous valproate. At the 2-month follow-up, the patient reported a 15-day seizure-free period. PMID:27965623

Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures.

Science.gov (United States)

Sirsi, Deepa; Dolce, Alison; Greenberg, Benjamin M; Thodeson, Drew

2016-01-01

There is expanding knowledge about the phenotypic variability of patients with voltage gated potassium channel complex (VGKC) antibody mediated neurologic disorders. The phenotypes are diverse and involve disorders of the central and peripheral nervous systems. The central nervous system manifestations described in the literature include limbic encephalitis, status epilepticus, and acute encephalitis. We report a 4.5 year-old boy who presented with intractable Myoclonic Astatic Epilepsy (MAE) or Doose syndrome and positive VGKC antibodies in serum. Treatment with steroids led to resolution of seizures and electrographic normalization. This case widens the spectrum of etiologies for MAE to include autoimmunity, in particular VGKC auto-antibodies and CNS inflammation, as a primary or contributing factor. There is an evolving understanding of voltage gated potassium channel complex mediated autoimmunity in children and the role of inflammation and autoimmunity in MAE and other intractable pediatric epilepsy syndromes remains to be fully defined. A high index of suspicion is required for diagnosis and appropriate management of antibody mediated epilepsy syndromes.

Genetics of Severe Early Onset Epilepsies

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2017-08-24

Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

NARCIS (Netherlands)

van Rootselaar, AF; Maurits, NM; Koelman, JHTM; van der Hoeven, JH; Bour, LJ; Leenders, KL; Brown, P; Tijssen, MAJ

Familial cortical myoclonic tremor with epilepsy (FCMTE) is characterized by a distal kinetic tremor, infrequent epileptic attacks, and autosomal dominant inheritance. The tremor is thought to originate from the motor cortex. In our patient group, a premovement cortical spike Could not be

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

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Carvill, Gemma L.; McMahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; Møller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

2015-01-01

GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ∼4% of unsolved MAE cases. PMID:25865495

Sleep and Epilepsy: Strange Bedfellows No More.

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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.

Epilepsy: The Role of the Super Family of Voltage Gated Ion Channels

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2011-02-22

Zara ...and  F.   Zara .  2006.  Familial  occurrence  of  febrile   seizures  and  epilepsy  in  severe  myoclonic  epilepsy  of...Bianchi,  and  F.   Zara .  2003.  Spectrum  of  SCN1A   mutations  in  severe  myoclonic  epilepsy  of

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

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Nabbout, Rima; Depienne, Christel; Chipaux, Mathilde; Girard, Benoit; Souville, Isabelle; Trouillard, Oriane; Dulac, Olivier; Chelly, Jamel; Afenjar, Alexandra; Héron, Delphine; Leguern, Eric; Beldjord, Cherif; Bienvenu, Thierry; Bahi-Buisson, Nadia

2009-11-01

Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25-30% patients with SMEI/DS are negative for SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS. Twenty-eight patients with early onset SMEI/DS before 6 months negative for SCN1A mutational screening were selected and screened for mutations in the ARX gene in males (n=14) or the CDKL5 gene in females (n=14). No mutations in either gene were found except one intronic variation of uncertain pathogenicity in the CDKL5 gene. All patients started seizures at mean age of 3.48 months. Thirteen patients had familial history of epilepsy or febrile seizures. Patients evolved toward refractory epilepsy with generalized tonic clonic seizures (18/28) and myoclonia (23/28) and severe neurological impairment with autistic features (13/28), ataxia (14/28) and spasticity (5/28). No patient ever exhibited infantile spasms, dystonia, or Rett-like features. Our results illustrate that mutation screening of ARX and CDKL5 is not effective in patients selected on the basis of clinical signs associated to early onset SMEI/DS. In addition, they might reflect that other phenotypic features associated with CDKL5 mutations (Rett-like features, infantile spasm) or ARX mutations (dystonia, spasticity) are more distinctive. 2009 Elsevier B.V. All rights reserved.

High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience.

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Simard-Tremblay, Elisabeth; Berry, Patricia; Owens, Aaron; Cook, William Byron; Sittner, Haley R; Mazzanti, Marta; Huber, Jennifer; Warner, Molly; Shurtleff, Hillary; Saneto, Russell P

2015-02-01

To determine the efficacy of the Modified Atkins Diet (MAD) and Ketogenic Diet (KD) in seizure control within a population of myoclonic-astatic epilepsy (MAE) patients. This was a retrospective, single center study evaluating the seizure control by high fat diets. Seizure diaries kept by the parents performed seizure counts. All patients met the clinical criteria for MAE. Nine patients met the clinical criteria. We found that both the MAD and KD were efficacious in complete seizure control and allowed other medications to be stopped in seven patients. Two patients had greater than 90% seizure control without medications, one on the KD and the other on the MAD. Seizure freedom has ranged from 13 to 36 months, and during this time four patients have been fully weaned off of diet management. One patient was found to have a mutation in SLC2A1. Our results suggest that strictly defined MAE patients respond to the MAD with prolonged seizure control. Some patients may require the KD for seizure freedom, suggesting a common pathway of increased requirement for fats. Once controlled, those fully responsive to the Diet(s) could be weaned off traditional seizure medications and in many, subsequently off the MAD or KD. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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

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

2010-09-10

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

Influence of history of head trauma and epilepsy on delinquents in a juvenile classification home.

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Miura, Hideki; Fujiki, Masumi; Shibata, Arihiro; Ishikawa, Kenji

2005-12-01

Juvenile delinquents often show poor impulse control and cognitive abnormalities, which may be related to disturbances in brain development due to head trauma and/or epilepsy. The aim of the present study was to examine the influence of head trauma and/or epilepsy on delinquent behavior. We examined 1,336 juvenile delinquents (1,151 males and 185 females) who had been admitted to the Nagoya Juvenile Classification Home, Aichi, Japan. Among them, 52 subjects with a history of epilepsy, convulsion or loss of consciousness, head injury requiring neurological assessment and/or treatment, or neurosurgical operation (head trauma/epilepsy group), were examined by electroencephalography and compared to subjects without these histories (control group) with respect to types of crime, history of amphetamine use, psychiatric treatment, child abuse, and family history. Among the 52 subjects, 43 (82.7%) showed abnormal findings. The head trauma/epilepsy group had significantly higher rates of psychiatric treatment (Phistory of drug abuse (Pdelinquents who had a history of head trauma and/or epilepsy showed a high prevalence of electroencephalograph abnormality, and higher rates of psychiatric treatment and family history of drug abuse, and were more likely to be sent to juvenile training school by the family court.

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

Directory of Open Access Journals (Sweden)

S A Balarabe

2016-01-01

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

A study of idiopathic generalised epilepsy in an Irish population.

LENUS (Irish Health Repository)

Mullins, G M

2012-02-03

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

Psychiatric comorbidity in patients with two prototypes of focal versus generalized epilepsy syndromes.

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Filho, Gerardo Maria de Araújo; Mazetto, Lenon; da Silva, Joyce Macedo; Caboclo, Luís Otávio Sales Ferreira; Yacubian, Elza Márcia Targas

2011-06-01

The frequency of psychiatric disorders (PD) in a homogeneous series of patients with temporal lobe epilepsy with mesial temporal sclerosis (TLE-MTS) compared to patients with juvenile myoclonic epilepsy (JME) was evaluated, aiming to determine the frequency of PD and possible differences in psychiatric diagnoses between these two epileptic syndromes. Data from 248 patients with refractory TLE-MTS and from 124 JME patients were reviewed and compared. There was a high prevalence of PD in both groups of epilepsy patients, present in 100 TLE-MTS (41%) and in 58 JME patients (46.7%). Mood (23.7%), anxiety (13.7%) and psychotic (11.6%) disorders were the most frequent diagnoses in TLE-MTS group, while mood and anxiety disorders (25% and 21%, respectively) were the most common PD among JME. Psychoses were significantly associated with TLE-MTS (p=0.01). These observations are concordant with our previous study, reforcing the existence of a possible anatomic correlation of PD and brain structures involved in both epilepsy syndromes. Copyright © 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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

DEFF Research Database (Denmark)

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

2016-01-01

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

Praxis induction. Definition, relation to epilepsy syndromes, nosological and prognostic significance. A focused review.

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Yacubian, Elza Márcia; Wolf, Peter

2014-04-01

There is increasing awareness that reflex epileptic mechanisms provide unique insight into ictogenesis in human epilepsies. Several of the described triggers have in common that they imply complex visuomotor coordination and decision-making; they are today regarded as variations of one principle, i.e. praxis induction (PI). This focused review considers PI from the aspects of history and delineation, clinical and electroencephalographic presentation, syndromatic relations, prevalence, mechanisms of ictogenesis and nosological implications, treatment and prognosis. We reviewed a series of published articles and case reports on PI in order to clarify clinical and electroencephalographic findings, treatment and outcome. Findings of both induction and inhibition by the same stimuli suggest widening the reflex epilepsy concept into a broader one of epilepsies with exogenous modification of ictogenesis. PI is closely related to juvenile myoclonic epilepsy (JME) where hyperexcitability and hyperconnectivity of the entire network of visuomotor coordination seem to provide the precondition for eliciting reflex myocloni in the musculature active in the precipitating task. The conclusions on ictogenesis derived from PI support the concept of JME as a system disorder of the brain. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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

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

2012-02-01

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

Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy

Directory of Open Access Journals (Sweden)

Yin-Hsuan Chien

2012-05-01

Full Text Available Epileptic encephalopathy with suppression-burst in electroencephalography (EEG can evolve into a few types of epileptic syndromes. We present here an unusual case of early myoclonic encephalopathy that evolved into migrating partial seizures in infancy. A female neonate initially had erratic myoclonus movements, hiccups, and a suppression-burst pattern in EEG that was compatible with early myoclonic encephalopathy. The seizures were controlled with dextromethorphan (20 mg/kg, and a suppression-burst pattern in EEG was reverted to relatively normal background activity. However, at 72 days of age, alternating focal tonic seizures, compatible with migrating partial seizures in infancy, were demonstrated by the 24-hour EEG recording. The seizures responded poorly to dextromethorphan. To our knowledge, this is the first reported case of early myoclonic encephalopathy evolving into migrating partial seizure in infancy. Whether it represents another age-dependent epilepsy evolution needs more clinical observation.

Visually-evoked pattern and photomyoclonic responses in video game and television epilepsy: case reports.

Science.gov (United States)

Anyanwu, E; Watson, N A

1996-01-01

This research paper reports a case study of two male photosensitive epileptic patients, aged 14 and 16 years old respectively, whose epileptic seizures were often triggered by the flickers from television and video games respectively. The 14-year old patient had no family history of epilepsy, while the 16 year old had a family history of epilepsy. A comprehensive electroencephalogram (EEG), including hyperventilation, intermittent photic stimulation (IPS) and pattern stimulation were carried out on them and EEG abnormalities including photoparoxysmal responses (PPR) and generalized myoclonic responses were evoked. A thorough analysis of the EEG morphology of the myclonic responses and the clinical manifestations showed evidence of two separate entitles of seizures namely: visually evoked pattern-myoclonic responses (PTMR) and visually evoked photomyoclonic responses (PMR). PTMR was independent of flash rate and occurred before a PPR and at the same time as the flash rate, while PMR occurred after the PPR and was dependent on flash rate. These findings suggest that "Video Game" epilepsy is probably a pattern sensitive epilepsy, electronic screen being the source of the triggering patterns; hence, the morphology and the family histories and the myoclonic phenomena differ from those of pure photosensitive epilepsy.

Genetics Home Reference: juvenile myoclonic epilepsy

Science.gov (United States)

... a protein that also plays a role in neuron activity, although its function is not completely understood. The EFHC1 protein is ... destruction of cells. EFHC1 gene mutations reduce the function of ... number of neurons and disrupts the calcium balance. Together, these effects ...

Gain-of-function HCN2 variants in genetic epilepsy.

Science.gov (United States)

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

2018-02-01

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

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

Directory of Open Access Journals (Sweden)

Sanjib Sinha

2013-01-01

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

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

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

2014-02-01

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

GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.

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Libor Velíšek

Full Text Available Idiopathic generalized epilepsy (IGE syndromes represent about 30% of all epilepsies. They have strong, but elusive, genetic components and sex-specific seizure expression. Multiple linkage and population association studies have connected the bromodomain-containing gene BRD2 to forms of IGE. In mice, a null mutation at the homologous Brd2 locus results in embryonic lethality while heterozygous Brd2+/- mice are viable and overtly normal. However, using the flurothyl model, we now show, that compared to the Brd2+/+ littermates, Brd2+/- males have a decreased clonic, and females a decreased tonic-clonic, seizure threshold. Additionally, long-term EEG/video recordings captured spontaneous seizures in three out of five recorded Brd2+/- female mice. Anatomical analysis of specific regions of the brain further revealed significant differences in Brd2+/- vs +/+ mice. Specifically, there were decreases in the numbers of GABAergic (parvalbumin- or GAD67-immunopositive neurons along the basal ganglia pathway, i.e., in the neocortex and striatum of Brd2+/- mice, compared to Brd2+/+ mice. There were also fewer GABAergic neurons in the substantia nigra reticulata (SNR, yet there was a minor, possibly compensatory increase in the GABA producing enzyme GAD67 in these SNR cells. Further, GAD67 expression in the superior colliculus and ventral medial thalamic nucleus, the main SNR outputs, was significantly decreased in Brd2+/- mice, further supporting GABA downregulation. Our data show that the non-channel-encoding, developmentally critical Brd2 gene is associated with i sex-specific increases in seizure susceptibility, ii the development of spontaneous seizures, and iii seizure-related anatomical changes in the GABA system, supporting BRD2's involvement in human IGE.

Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis.

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Balan, Shabeesh; Radhab, Saradalekshmi Koramannil; Radha, Koramannil; Sathyan, Sanish; Vijai, Joseph; Banerjee, Moinak; Radhakrishnan, Kurupath

2013-09-10

The human major vault protein (MVP) has been implicated in the development of drug resistance in cancer cells. Over expression of MVP has also been reported in brain tissue samples from antiepileptic drug (AED)-resistant human focal epilepsies. To investigate the relationship between single nucleotide polymorphisms (SNPs) involving the MVP gene and AED-resistance, we compared the distribution of three SNPs in the MVP gene, rs4788187, rs3815824 and rs3815823, among 220 patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) (prototype of AED-resistant epilepsy syndrome), 201 patients with juvenile myoclonic epilepsy (JME) (prototype of AED-responsive epilepsy syndrome) and 213 ethnically matched non-epilepsy controls. All the patients and controls were residents of the South Indian state of Kerala for more than three generations. We did not find any significant difference in allele and genotypic frequencies of the studied SNPs between AED-resistant and AED-responsive cohorts, and between AED-resistant and AED-responsive cohorts independently and pooled together when compared with the controls. We conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied. Our results suggest the need for further research into the link between MVP and AED-resistance. Copyright © 2013 Elsevier B.V. All rights reserved.

Glycogen Phosphomonoester Distribution in Mouse Models of the Progressive Myoclonic Epilepsy, Lafora Disease*

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DePaoli-Roach, Anna A.; Contreras, Christopher J.; Segvich, Dyann M.; Heiss, Christian; Ishihara, Mayumi; Azadi, Parastoo; Roach, Peter J.

2015-01-01

Glycogen is a branched polymer of glucose that acts as an energy reserve in many cell types. Glycogen contains trace amounts of covalent phosphate, in the range of 1 phosphate per 500–2000 glucose residues depending on the source. The function, if any, is unknown, but in at least one genetic disease, the progressive myoclonic epilepsy Lafora disease, excessive phosphorylation of glycogen has been implicated in the pathology by disturbing glycogen structure. Some 90% of Lafora cases are attributed to mutations of the EPM2A or EPM2B genes, and mice with either gene disrupted accumulate hyperphosphorylated glycogen. It is, therefore, of importance to understand the chemistry of glycogen phosphorylation. Rabbit skeletal muscle glycogen contained covalent phosphate as monoesters of C2, C3, and C6 carbons of glucose residues based on analyses of phospho-oligosaccharides by NMR. Furthermore, using a sensitive assay for glucose 6-P in hydrolysates of glycogen coupled with measurement of total phosphate, we determined the proportion of C6 phosphorylation in rabbit muscle glycogen to be ∼20%. C6 phosphorylation also accounted for ∼20% of the covalent phosphate in wild type mouse muscle glycogen. Glycogen phosphorylation in Epm2a−/− and Epm2b−/− mice was increased 8- and 4-fold compared with wild type mice, but the proportion of C6 phosphorylation remained unchanged at ∼20%. Therefore, our results suggest that C2, C3, and/or C6 phosphate could all contribute to abnormal glycogen structure or to Lafora disease. PMID:25416783

Epilepsy and violence: case series concerning physical trauma in children of persons with epilepsy

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Gauffin H

2014-11-01

Full Text Available Helena Gauffin1,2 Anne-Marie Landtblom1–4 1Department of Neurology, Linköping University, Linköping, Sweden; 2Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden; 3Neurology Unit, Department of Medical Specialist, General Hospital, Department of Medicine and Health Sciences, IMM, County Council, Linköping University, Motala, Sweden; 4Department of Neuroscience, Uppsala University, Uppsala, Sweden Abstract: Historically, epilepsy has been associated with violence, but more recent studies have emphasized genetic and psychosocial factors as more important. The case series presented here aim to highlight the difficult situation the affected children are in. We report on three cases when children have been traumatized and, in one case, even been killed by their parent who was diagnosed with epilepsy. In the first case, we describe a woman with juvenile myoclonic epilepsy who was sentenced to forensic psychiatry care for killing her child. She lived under difficult psychosocial circumstances and a suicide attempt contributed to what happened. The second case describes a man with post-traumatic seizures who was sentenced for child abuse. Ictal or postictal violence was considered in these two cases but a causal link between the violence and epilepsy has not been established. In the third case, we describe a woman with focal epilepsy and psychogenic non-epileptic seizures (PNESs. Her child was hurt and frightened in relation to violent seizures, which were regarded as PNESs. This case series demonstrates that children of parents with epilepsy can be in a vulnerable situation. No causality has been established between the seizures and these events, so consequently other factors such as psychosocial stress, low cognitive function, and a suicide attempt must also be considered as important. When a child is hurt by a parent with epilepsy the patient must be closely examined to determine the role of the seizures

Cortical and subcortical brain alterations in Juvenile Absence Epilepsy

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Manuela Tondelli

2016-01-01

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

Validity and reliability of the Portuguese version of the quality of life in epilepsy inventory (QOLIE-31) for Brazil.

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da Silva, Tatiana Indelicato; Ciconelli, Rozana Mesquita; Alonso, Neide Barreira; Azevedo, Auro Mauro; Westphal-Guitti, Ana Carolina; Pascalicchio, Tatiana Frascarelli; Marques, Carolina Mattos; Caboclo, Luís Otávio Sales Ferreira; Cramer, Joyce A; Sakamoto, Américo Ceiki; Yacubian, Elza Márcia Targas

2007-03-01

We report the cultural adaptation and psychometric properties of the Quality of Life in Epilepsy-31 Inventory (QOLIE-31) for the Portuguese language and Brazilian culture. This study involved 150 outpatients: 50 presurgical patients with refractory temporal lobe epilepsy (TLE) related to mesial temporal sclerosis (MTS), 50 patients with juvenile myoclonic epilepsy (JME), and 50 seizure-free patients with TLE. They completed the QOLIE-31, Nottingham Health Profile (NHP), Beck Depression Inventory (BDI), and Adverse Events Profile (AEP) and underwent a neuropsychological evaluation (NE). Internal consistency reliability, interrater and test-retest reliability, and construct validity were assessed. QOLIE-31 mean scores were 33.1 (Social Function), 68.9 (Overall Quality of Life), 56.5 (Seizure Worry), 64.1 (Emotional Well-Being), 63.7 (Energy/Fatigue), 38.9 (Cognitive Function), and 49.7 (Medication Effects). Internal consistency was high (Cronbach's alpha), as were the associations between QOLIE-31 and the BDI, NHP, AEP, and NE. The Portuguese/Brazilian version of the QOLIE-31 inventory showed good reliability, validity, and construct validity.

Complex single gene disorders and epilepsy.

LENUS (Irish Health Repository)

Merwick, Aine

2012-09-01

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

Self‑perceived seizure precipitants among patients with epilepsy in ...

African Journals Online (AJOL)

2014-03-25

Mar 25, 2014 ... triggers especially idiopathic generalized epilepsy with myoclonic seizures ... with complex interactions so that it can be difficult for both patients and ... for Social Sciences (SPSS) computer software (version 18). Frequency ...

Severe myoclonic epilepsy of infancy (Dravet syndrome: Clinical and genetic features of nine Turkish patients

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Meral Özmen

2011-01-01

Full Text Available Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A cause severe myoclonic epilepsy of infancy (SMEI. To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions : Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.

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

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M. Yu. Bobylova

2015-01-01

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

Levetiracetam (Keppra: Evidence-Based Polypharmacy in Two Patients With Epilepsy

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Tolou-Ghamari

2016-04-01

Full Text Available Introduction Epilepsy is a prolonged disorder characterized by repeated violent epileptic seizures. Its managements depend on proper classification of the seizure category and the epileptic pattern. Levetiracetam (Keppra® has been approved as monotherapy or for adjunctive management of partial onset seizures, juvenile myoclonic epilepsy, and idiopathic generalized epilepsy. Case reporting of levetiracetam polypharmacy shows adverse effects linked to evidence-based clinical and laboratory data in two patients with epilepsy. Case reporting of levetiracetam polypharmacy, based on evidence-based clinical and laboratory data was of interest that investigated. Case Presentation Two cases were studied, one patient was a 32-year-old male and the other was a 14-year-old female. The key words relevant to search topics were surveyed using PubMed (United States national library of medicine. Articles related to the levetiracetam prescription in epileptic patients were selected and considered separately. Pharmacotherapy based on levetiracetam, primidone, phenytoin, and topiramate in a 32-year-old epileptic male showed a decrease in white blood cell count (3400 cells/mcL, red blood cell count (4.4 mil/mm3 hemoglobin (11.8 g/dL and hematocrit (36.7%. The drug regimen for the 14-year-old epileptic female was a levetiracetam polypharmacy in combination with primidone and sodium-valproate simultaneously. In this patient, there was a decrease in hemoglobin (10.4 g/dL and hematocrit (34%. An increase in lymphocyte (84% was also observed. Conclusions Administration of AEDs in general and levetiracetam in particular should be based on attention to pharmacokinetic behavior in terms of monotherapy or polypharmacy.

Quality of life and burden in caregivers of patients with epilepsy.

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Westphal-Guitti, Ana Carolina; Alonso, Neide Barreira; Migliorini, Rosa Cristina Vaz Pedroso; da Silva, Tatiana Indelicato; Azevedo, Auro Mauro; Caboclo, Luís Otávio Sales Ferreira; Sakamoto, Américo Ceiki; Yacubian, Elza Márcia Targas

2007-12-01

The purpose of this study was to compare quality of life and burden in 100 caregivers of adolescent and adult patients with epilepsy that started in adolescence. We invited caregivers of 50 patients with temporal lobe epilepsy (TLE) related to mesial temporal sclerosis and caregivers of 50 patients with juvenile myoclonic epilepsy (JME) to participate. After the caregivers answered a sociodemographic questionnaire, they answered the Brazilian version of the Burden Interview (BI) Scale and we assessed their quality of life using the 36-Item Short-Form Health Survey (SF-36). The mean ages of patients were 25.4 and 36.4 years and epilepsy duration was 14 and 25.6 years in the JME and TLE groups, respectively. We found a mild to moderate burden on caregivers in both groups, with a BI average score of 25.5 for JME and 30.7 for TLE. Caregivers in the JME group had lower scores in all domains of the SF-36 and reported higher burden. Low scores were also seen in three domains for the TLE group. These results suggest that caregivers of patients with both epileptic syndromes experience interference in their lives. When we compared the two groups, we found no difference between caregiver data on SF-36 and BI. Quality of life was significantly compromised in caregivers of patients with JME and TLE, and the two groups were burdened to a similar degree (mild to moderate). Nurses can carry out psychoeducative programs with the objective of diagnosing the impact of epilepsy in the family, decreasing burden, and improving quality of life for caregivers.

The C-terminal domain of Brd2 is important for chromatin interaction and regulation of transcription and alternative splicing

Czech Academy of Sciences Publication Activity Database

Hnilicová, Jarmila; Hozeifi, S.; Stejskalová, E.; Dušková, E.; Poser, I.; Humpolíčková, J.; Hof, M.; Staněk, D.

2013-01-01

Roč. 24, č. 22 (2013), s. 3557-3568 ISSN 1059-1524 R&D Projects: GA ČR(CZ) GBP305/12/G034 Institutional support: RVO:61388971 Keywords : DOUBLE-BROMODOMAIN PROTEIN * JUVENILE MYOCLONIC EPILEPSY * LIVING CELLS Subject RIV: EE - Microbiology, Virology Impact factor: 4.548, year: 2013

Angelman syndrome, cause of epilepsy in infants

International Nuclear Information System (INIS)

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

2014-01-01

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

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

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Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J Lloyd; Lesca, Gaetan; Mancardi, Maria M; Poulat, Anne L; Repetto, Gabriela M; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E; Bosch, Friedrich; Brockmann, Knut; Cross, J Helen; Doummar, Diane; Félix, Temis M; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; Kayserili, Hulia; Kini, Usha; Lees, Melissa M; Meenakshi, Girish; Mewasingh, Leena; Pagnamenta, Alistair T; Peluso, Silvio; Mey, Antje; Rice, Gregory M; Rosenfeld, Jill A; Taylor, Jenny C; Troester, Matthew M; Stanley, Christine M; Ville, Dorothee; Walkiewicz, Magdalena; Falace, Antonio; Fassio, Anna; Lemke, Johannes R; Biskup, Saskia; Tardif, Jessica; Ajeawung, Norbert F; Tolun, Aslihan; Corbett, Mark; Gecz, Jozef; Afawi, Zaid; Howell, Katherine B; Oliver, Karen L; Berkovic, Samuel F; Scheffer, Ingrid E; de Falco, Fabrizio A; Oliver, Peter L; Striano, Pasquale; Zara, Federico; Campeau, Phillipe M; Sisodiya, S M

2016-07-05

To evaluate the phenotypic spectrum associated with mutations in TBC1D24. We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsiveness, and physical examination. In silico evaluation revealed 7 different highly conserved motifs, with the most common pathogenic mutation located in the first. Neuronal outgrowth assays showed that some TBC1D24 mutations, associated with the most severe TBC1D24-associated disorders, are not necessarily the most disruptive to this gene function. TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. There is no distinct correlation with mutation type or location yet, but patterns are emerging. Given the phenotypic breadth observed, TBC1D24 mutation screening is indicated in a wide variety of epilepsies. A TBC1D24 consortium was formed to develop further research on this gene and its associated phenotypes. © 2016 American Academy of Neurology.

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

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

2016-01-01

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

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

Science.gov (United States)

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

2014-02-01

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

EEG recording after sleep deprivation in a series of patients with juvenile myoclonic epilepsy Registros eletrencefalográficos após privação de sono em uma série de pacientes com epilepsia mioclônica juvenil

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Nise Alessandra de Carvalho Sousa

2005-06-01

Full Text Available Seizures in Juvenile Myoclonic Epilepsy (JME are dependent on the sleep-wake cycle and precipitant factors, among which sleep deprivation (SD is one of the most important. Still an under diagnosed syndrome, misinterpretation of the EEGs contributes to diagnostic delay. Despite this, a quantitative EEG investigation of SD effects has not been performed. We investigated the effect of SD on EEGs in 41 patients, aged 16-50 yr. (mean 25.4, who had not yet had syndromic diagnosis after a mean delay of 8.2 yr. Two EEG recordings separated by a 48-hour interval were taken at 7 a.m. preceded by a period of 6 hours of sleep (routine EEG and after SD (sleep-deprived EEG. The same protocol was followed and included a rest wakefulness recording, photic stimulation, hyperventilation and a post-hyperventilation period. The EEGs were analyzed as to the effect of SD on the number, duration, morphology, localization and predominance of abnormalities in the different stages. A discharge index (DI was calculated. Out of the 41 patients, 4 presented both normal EEG recordings. In 37 (90.2% there were epileptiform discharges (ED. The number of patients with ED ascended from 26 (70.3% in the routine EEG to 32 (86.5% in the sleep-deprived exam. The presence of generalized spike-wave and multispike-wave increased from 20 (54.1% and 13 (35.1% in the first EEG to 29 (78.4% and 19 (51.4% in the second, respectively (pNa epilepsia mioclônica juvenil (EMJ, uma síndrome epiléptica ainda subdiagnosticada, as crises são dependentes do ciclo vigília-sono e de fatores precipitantes, entre os quais a privação de sono (PS é um dos mais importantes. A interpretação inadequada dos EEGs contribui para atraso no diagnóstico. Ainda não foi realizada investigação quantitativa sobre os efeitos da PS. Avaliamos o efeito da PS nos EEGs de 41 pacientes entre 16 e 50 anos (média 25,4 com EMJ em dois registros eletrencefalográficos, separados por intervalo de 48 horas. Os

Multiplex families with epilepsy

Science.gov (United States)

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

2016-01-01

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

Predictors of intractable childhood epilepsy

International Nuclear Information System (INIS)

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

2008-01-01

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

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

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Topaloglu, Haluk; Melki, Judith

2016-09-01

A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as "spinal muscular atrophy associated with progressive myoclonic epilepsy" (SMA-PME), has been described in childhood and is inherited as an autosomal recessive trait. SMA-PME is caused by mutation in the ASAH1 gene encoding acid ceramidase. Ceramide and the metabolites participate in various cellular events as lipid mediators. The catabolism of ceramide in mammals occurs in lysosomes through the activity of ceramidase. Three different ceramidases (acid, neutral and alkaline) have been identified and appear to play distinct roles in sphingolipid metabolism. The enzymatic activity of acid ceramidase is deficient in two rare inherited disorders; Farber disease and SMA-PME. Farber disease is a very rare and severe autosomal recessive condition with a distinct clinical phenotype. The marked difference in disease manifestations may explain why Farber and SMA-PME diseases were not previously suspected to be allelic conditions. The precise molecular mechanism underlying the phenotypic differences remains to be clarified. Recently, a condition with mutation in CERS1, the gene encoding ceramide synthase 1, has been identified as a novel form of PME. This finding underlies the essential role of enzymes regulating either the synthesis (CERS1) or degradation (ASAH1) of ceramide, and the link between defects in ceramide metabolism and PME.

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

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

2016-12-01

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

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance.

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Shabeesh Balan

Full Text Available Epilepsy constitutes a heterogeneous group of disorders that is characterized by recurrent unprovoked seizures due to widely different etiologies. Multidrug resistance remains a major issue in clinical epileptology, where one third of patients with epilepsy continue to have seizures. Role of efflux transporters in multidrug resistant epilepsy has been attributed to drug-resistant epilepsy although, with discrepant observation in genetic studies. These discrepancies could be attributed to variety of factors such as variable definition of the anti-epileptic drug (AED-resistance, variable epilepsy phenotypes and ethnicities among the studies. In the present study we inquired the role of multidrug transporters ABCB1 and ABCG2 variants in determining AED-resistance and susceptibility to epilepsy in three well-characterized cohorts comprising of mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS (prototype for AED-resistant epilepsy; juvenile myoclonic epilepsy (JME (prototype for AED-responsive epilepsy; and healthy non-epileptic controls, in 738 subjects of Malayalam speaking south Indian ancestry. ABCB1 and ABCG2 variants were not found to be associated with drug resistance when AED-resistant and AED-responsive cohorts were compared. However, a significant association was observed between ABCB1 (C3435T rs1045642 and risk of having epilepsy (MTLE-HS and JME pooled cohort; genotypic p-value = 0.0002; allelic p-value = 0.004. This association was seen persistent with MTLE-HS (genotypic p-value = 0.0008; allelic p-value = 0.004 and also with JME (genotypic p-value = 0.01; allelic p-value = 0.05 cohort individually. In-silico functional prediction indicated that ABCB1 rs1045642 has a deleterious impact on protein coding function and in splicing regulation. We conclude that the ABCB1 and ABCG2 variants do not confer to AED-resistance in the study population. However, ABCB1 rs1045642 increases vulnerability to epilepsy with greater tendency

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

OpenAIRE

M. Yu. Bobylova; M. B. Mironov; M. O. Abramov; A. V. Kulikov; M. V. Kazakova; L. Yu. Glukhova; E. I. Barletova; K. Yu. Mukhin

2015-01-01

The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG) pattern, the type of seizures, and the variant of the course of epilepsy. This paper describes a case of synaptic RAS GTP-ase-activating protein 1 (SYNGAP1) gene mutation in a 9-year-old female patient with eyelid myoclonic ep...

[Sexual disorders in epilepsy. Results of a multidisciplinary evaluation].

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Silva, H C; Carvalho, M J; Jorge, C L; Cunha Neto, M B; Goes, P M; Yacubian, E M

1999-09-01

Eleven epileptic men who complained of epilepsy and sexual dysfunction were submitted to a multidisciplinary evaluation. Mean age was 27 years (20-34), mean epilepsy duration was 19 years (0.5-32) and the mean seizure frequency was two by week (0-7). Ten patients had partial seizures and one other had myoclonic epilepsy. Ten patients were treated with antiepileptic drugs (phenytoin--1, carbamazepine--8, clonazepam--3, clobazam--2, valproic acid--3, vigabatrin--1). As defined in the DSM III-R, the complaints were: erectile disorder (9), hypoactive sexual desire disorder (4), frotteurism (4), inhibited orgasm (3), premature ejaculation (3), fetishism (2), voyeurism (2), exhibitionism (2), pedophilia (1) and sexual aversion disorder (1). Two patients showed hypogonadotropic hypogonadism on endocrinologic screening. Urological evaluation disclosed organic erectile dysfunction in other two. One patient had a diagnosis of psychogenic sexual disorder. In six patients a conclusive etiologic diagnosis was not reached. This report shows the multifactorial nature of sexual disorder in epilepsy and underlies the need of a multidisciplinar evaluation.

Disease: H01822 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01822 Epilepsy with myoclonic absence Epilepsy with myoclonic absences (EMA) is c... the long-term prognosis is poor. Nervous system disease; Epilepsy ... Valproate...sies. ICD-10: G40.3 MeSH: D004831 PMID:15737698 ... AUTHORS ... Bureau M, Tassinari CA ... TITLE ... Epilepsy with

3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.

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Sanna Suoranta

Full Text Available Progressive myoclonic epilepsy type 1 (EPM1 is an autosomal recessively inherited neurodegenerative disorder characterized by young onset age, myoclonus and tonic-clonic epileptic seizures. At the time of diagnosis, the visual assessment of the brain MRI is usually normal, with no major changes found later. Therefore, we utilized texture analysis (TA to characterize and classify the underlying properties of the affected brain tissue by means of 3D texture features. Sixteen genetically verified patients with EPM1 and 16 healthy controls were included in the study. TA was performed upon 3D volumes of interest that were placed bilaterally in the thalamus, amygdala, hippocampus, caudate nucleus and putamen. Compared to the healthy controls, EPM1 patients had significant textural differences especially in the thalamus and right putamen. The most significantly differing texture features included parameters that measure the complexity and heterogeneity of the tissue, such as the co-occurrence matrix-based entropy and angular second moment, and also the run-length matrix-based parameters of gray-level non-uniformity, short run emphasis and long run emphasis. This study demonstrates the usability of 3D TA for extracting additional information from MR images. Textural alterations which suggest complex, coarse and heterogeneous appearance were found bilaterally in the thalamus, supporting the previous literature on thalamic pathology in EPM1. The observed putamenal involvement is a novel finding. Our results encourage further studies on the clinical applications, feasibility, reproducibility and reliability of 3D TA.

The gamma-aminobutyric acid uptake inhibitor, tiagabine, is anticonvulsant in two animal models of reflex epilepsy.

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Smith, S E; Parvez, N S; Chapman, A G; Meldrum, B S

1995-02-06

The effects of i.p. administration of the gamma-aminobutyric acid (GABA) uptake inhibitors R(-)N-(4,4-di(3-methylthien-2-yl)-but-3-enyl) nipecotic acid hydrochloride (tiagabine; molecular weight 412.0), (1-(2-(((diphenylmethylene)-amino)oxy)ethyl)-1,2,5,6-tetrahydro-3- pyridinecarboxylic acid hydrochloride (NNC-711; molecular weight 386.9), and (+/-)-nipecotic acid (molecular weight 128.2) are compared with those of carbamazepine (molecular weight 236.3) on sound-induced seizures and locomotor performance in genetically epilepsy-prone (GEP) rats. The ED50 value against clonic seizures (in mumol kg-1 at the time of maximal anticonvulsant effect) for tiagabine was 23 (0.5 h), and for NNC-711 was 72 (1 h), and for carbamazepine was 98 (2 h). (+/-)-Nipecotic acid (0.4-15.6 mmol kg-1) was not anticonvulsant. High doses of NNC-711 (207-310 mumol kg-1) and of (+/-)-nipecotic acid (39-78 mmol kg-1) induced ataxia and myoclonic seizures 0.25-1 h. Tiagabine and carbamazepine did not induce myoclonic seizures and had similar therapeutic indices (locomotor deficit ED50/anticonvulsant ED50) ranging from 0.4 to 1.9. In Papio papio, we observed a reduction in photically induced myoclonic seizures with tiagabine (2.4 mumol kg-1 i.v.) accompanied with neurological impairment. Tiagabine has comparable anticonvulsant action to carbamazepine in rats and has anticonvulsant effects in non-human primates supporting the potential use of inhibitors of GABA uptake as therapy for epilepsy.

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

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Coppola, Antonietta; Caccavale, Carmela; Santulli, Lia; Balestrini, Simona; Cagnetti, Claudia; Licchetta, Laura; Esposito, Marcello; Bisulli, Francesca; Tinuper, Paolo; Provinciali, Leandro; Minetti, Carlo; Zara, Federico; Striano, Pasquale; Striano, Salvatore

2016-03-01

The objective of this report was to assess the psychiatric comorbidity in a group of patients affected by autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME). Reliable and validated psychodiagnostic scales including the BDI (Beck Depression Inventory), STAI-Y1 and 2 (State-Trait Anxiety Inventory - Y; 1 and 2), MMPI-2 (Minnesota Multiphasic Personality Inventory - 2), and QoLIE-31 (Quality of Life in Epilepsy Inventory - 31) were administered to 20 patients with ADCME, 20 patients with juvenile myoclonic epilepsy (JME), and 20 healthy controls. There was a higher prevalence of mood disorders in patients with ADCME compared to patients with JME and healthy controls, particularly depression (p=0.035 and p=0.017, respectively) and state anxiety (p=0.024 and p=0.019, respectively). Trait anxiety was not different from JME (p=0.102) but higher than healthy controls (p=0.017). The myoclonus score positively correlated with both state (rho: 0.58, p=0.042) and trait anxiety (rho: 0.65, p=0.011). These psychiatric features were also often associated with pathological traits of personality: paranoid (OR: 25.7, p=0.003), psychasthenia (OR: 7.0, p=0.023), schizophrenia (OR: 8.5, p=0.011), and hypomania (OR: 5.5, p=0.022). Finally, in patients with ADCME, decreased quality of life correlated with these psychiatric symptoms. Patients with ADCME show a significant psychiatric burden that impairs their quality of life. A comprehensive psychiatric evaluation should be offered at the time of diagnosis to detect these comorbidities and to treat them. Copyright © 2016 Elsevier Inc. All rights reserved.

Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia.

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Lim, Kheng Seang; Ng, Ching Ching; Chan, Chung Kin; Foo, Wee Shean; Low, Joyce Siew Yong; Tan, Chong Tin

2017-02-01

Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia. In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016. In our epilepsy cohort (n=2100), 18.7% were diagnosed to have GGE. Of those, 28.6% >(N=112) had family history of epilepsy with a mean age of seizure onset of 16.5 years old, and 42.0% had myoclonic seizures (N=47). The lifetime prevalence of epilepsy among first-degree relative of those with GGE and positive family history was 15.0%. Analysis according to ethnicity showed that Malaysian Chinese had the lowest percentage of GGE among those with epilepsy (12.3%), as compared with Indian and Malay (25.3% and 21.3%, pChinese (27.5%) ethnic groups. Consanguineous marriage was noted in 5 Indian families with positive family history (9.6%). There was ethnic variation in the prevalence of GGE, whereby the Malaysian Chinese had the lowest percentage of GGE as compared with Indian and Malay. A substantial proportion of GGE had positive family history among the three ethnics groups. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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

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Guo Bin

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

Epilepsy in adults with mitochondrial disease: A cohort study.

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Whittaker, Roger G; Devine, Helen E; Gorman, Grainne S; Schaefer, Andrew M; Horvath, Rita; Ng, Yi; Nesbitt, Victoria; Lax, Nichola Z; McFarland, Robert; Cunningham, Mark O; Taylor, Robert W; Turnbull, Douglass M

2015-12-01

The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease. We prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne between January 1, 2005 and January 1, 2008. We then followed this cohort over a 7-year period, recording primary outcome measures of occurrence of first seizure, status epilepticus, stroke-like episode, and death. Overall prevalence of epilepsy in the cohort was 23.1%. Mean age of epilepsy onset was 29.4 years. Prevalence varied widely between genotypes, with several genotypes having no cases of epilepsy, a prevalence of 34.9% in the most common genotype (m.3243A>G mutation), and 92.3% in the m.8344A>G mutation. Among the cohort as a whole, focal seizures, with or without progression to bilateral convulsive seizures, was the most common seizure type. Conversely, all of the patients with the m.8344A>G mutation and epilepsy experienced myoclonic seizures. Patients with the m.3243A>G mutation remain at high risk of developing stroke-like episodes (1.16% per year). However, although the standardized mortality ratio for the entire cohort was high (2.86), this ratio did not differ significantly between patients with epilepsy (2.96) and those without (2.83). Epilepsy is a common manifestation of mitochondrial disease. It develops early in the disease and, in the case of the m.3243A>G mutation, often presents in the context of a stroke-like episode or status epilepticus. However, epilepsy does not itself appear to contribute to the increased mortality in mitochondrial disease. © 2015 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

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Vanni, Nicola; Fruscione, Floriana; Ferlazzo, Edoardo; Striano, Pasquale; Robbiano, Angela; Traverso, Monica; Sander, Thomas; Falace, Antonio; Gazzerro, Elisabetta; Bramanti, Placido; Bielawski, Jacek; Fassio, Anna; Minetti, Carlo; Genton, Pierre; Zara, Federico

2014-08-01

Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders. We identified a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, in 4 siblings affected by a progressive disorder with myoclonic epilepsy and dementia. CerS1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides. We demonstrated that the mutation decreases C18-ceramide levels. In addition, we showed that downregulation of CerS1 in a neuroblastoma cell line triggers ER stress response and induces proapoptotic pathways. This study demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans. © 2014 American Neurological Association.

TYPICAL ABSENCES: RESULTS OF OWN INVESTIGATIONS

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K. Yu. Mukhin

2015-01-01

seizures was observed in 15.7 % of the patients. No one case – without effect. The greatest success in relieving seizures was seen in juvenile myoclonic epilepsy; childhood absence epilepsy was intermediate; the lowest percentage of remission was noted in juvenile absence epilepsy. The most effective drugs were valproic acid and ethosuximide used both alone and in combination. Lamotrigine, topiramate, and levetiracetam were used as part of combination therapy. 

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

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

2008-11-01

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

Distinct white matter abnormalities in different idiopathic generalized epilepsy syndromes.

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Liu, Min; Concha, Luis; Beaulieu, Christian; Gross, Donald W

2011-12-01

By definition idiopathic generalized epilepsy (IGE) is not associated with structural abnormalities on conventional magnetic resonance imaging (MRI). However, recent quantitative studies suggest white and gray matter alterations in IGE. The purpose of this study was to investigate whether there are white and/or gray matter structural differences between controls and two subsets of IGE, namely juvenile myoclonic epilepsy (JME) and IGE with generalized tonic-clonic seizures only (IGE-GTC). We assessed white matter integrity and gray matter volume using diffusion tensor tractography-based analysis of fractional anisotropy and voxel-based morphometry, respectively, in 25 patients with IGE, all of whom had experienced generalized tonic-clonic convulsions. Specifically, 15 patients with JME and 10 patients with IGE-GTC were compared to two groups of similarly matched controls separately. Correlations between total lifetime generalized tonic-clonic seizures and fractional anisotropy were investigated for both groups. Tractography revealed lower fractional anisotropy in specific tracts including the crus of the fornix, body of corpus callosum, uncinate fasciculi, superior longitudinal fasciculi, anterior limb of internal capsule, and corticospinal tracts in JME with respect to controls, whereas there were no fractional anisotropy differences in IGE-GTC. No correlation was found between fractional anisotropy and total lifetime generalized tonic-clonic seizures for either JME or IGE-GTC. Although false discovery rate-corrected voxel-based morphometry (VBM) showed no gray matter volume differences between patient and control groups, spatial extent cluster-corrected VBM analysis suggested a trend of gray matter volume reduction in frontal and central regions in both patient groups, more lateral in JME and more medial in IGE-GTC. The findings support the idea that the clinical syndromes of JME and IGE-GTC have unique anatomic substrates. The fact that the primary clinical

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

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

2005-06-01

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

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

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

2016-05-01

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

When should MERRF (myoclonus epilepsy associated with ragged-red fibers be the diagnosis?

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Paulo José Lorenzoni

2014-10-01

Full Text Available Myoclonic epilepsy associated with ragged red fibers (MERRF is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments.

EFFICACY OF RUFINAMIDE IN THE TREATMENT OF DRUG-RESISTANT FOCAL EPILEPSIES IN PAEDIATRIC PRACTICE

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I. O. Shchederkina

2016-01-01

Full Text Available Among drug-resistant epilepsies, epileptic syndromes, characterized by combination of several types of seizures, are considered to be the most difficult in terms of treatment. Lennox–Gastaut syndrome is one of them. It manifests with polymorphic seizures (tonic axial, myatonic, atypical absence seizures, status epilepticus of minor motor seizures, myoclonic, generalized convulsive, and focal seizures. This is a heterogeneous disease, represented by a complex of clinical and electroencephalographic manifestations with various etiology. Current review is devoted to a novel antiepileptic drug rufinamide, which has a new mechanism of action. The drug has been registered in Russia in 2015. The authors also describe their own experience of rufinamide usage in the treatment of drug-resistant focal epilepsy as a part of multicomponent therapy for polymorphic seizures. One patient achieved clinical remission for 16 months; the second one had more than 50 % decrease in seizures frequency with a remission of drop-attacks.

Interrelationship of sleep and juvenile myoclonic epilepsy (JME): a sleep questionnaire-, EEG-, and polysomnography (PSG)-based prospective case-control study.

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Ramachandraiah, C T; Sinha, S; Taly, A B; Rao, S; Satishchandra, P

2012-11-01

We studied the effects of 'epilepsy on sleep and its architecture' and 'sleep on the occurrence and distribution of interictal epileptiform discharges (ED)' using 'sleep questionnaires', 'EEG', and 'PSG' in patients with JME. Forty patients with JME [20 on valproate (Group I - 20.8±4.0 years; M: F=9:11) and 20 drug-naïve (Group II - 24.4±6.7 years; M: F=9:11)] and 20 controls (M: F=9:11; age: 23.5±4.7 years) underwent assessment with Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), overnight PSG, and scalp-EEG. Epileptiform discharges (EDs) were quantified in different sleep stages. The 'ED Index' was derived as number of EDs/min per stage. Statistical Package for the Social Sciences (SPSS) vs. 11 was used for statistical analysis. A 'p' EEG revealed EDs in 22/40 (Group I: 7 and Group II: 15) patients. Thirty-five patients had EDs in various sleep stages during PSG (Group I: 17 and Group II: 18): N1 - Group I: 9 and Group II: 14, N2 - Group I: 14 and Group II: 14, N3 - Group I: 14 and Group II: 10, and REM - Group I: 9 and Group II: 11. The ED Index was higher during N2/N3 in Group I and N1/REM in Group II. The epileptiform discharges were frequently associated with arousals in N1/REM and K-complexes in N2. There was no other significant difference between Groups I and II. In conclusion, there was poor sleep quality in patients with JME compared to controls, especially those on valproate who had altered sleep architecture. Epileptiform activity was observed more often in sleep than wakefulness. Sleep stages had variable effect on epileptiform discharges with light sleep having a facilitatory effect in the drug-naïve group and slow wave sleep having a facilitatory effect in the valproate group. Copyright © 2012 Elsevier Inc. All rights reserved.

Vertebral Artery Dissection Associated with Generalized Convulsive Seizures: A Case Report

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Faisal Mohammad Amin

2013-07-01

Full Text Available A 46-year-old male with juvenile myoclonic epilepsy was admitted to the neurological department for convulsive seizures just after lamotrigine was discontinued. On admission he was awake but had a right-sided hemiparesis with Babinski sign and ataxic finger-nose test on the left side. An MR scan showed a left-sided pontine infarction, an infarct in the left cerebellar hemisphere and a right vertebral artery dissection (VAD. The patient was treated with heparin and an oral anticoagulant for 6 months. Recovery of neurologic function was excellent. In patients with symptoms of disturbances of posterior circulation after epileptic seizures, VAD should be considered.

A Mouse Model that Recapitulates Cardinal Features of the 15q13.3 Microdeletion Syndrome Including Schizophrenia- and Epilepsy-Related Alterations

DEFF Research Database (Denmark)

Fejgin, Kim; Nielsen, Jacob; Birknow, Michelle R.

2014-01-01

to develop myoclonic and absence-like seizures but decreased propensity for clonic and tonic seizures. Furthermore, they had impaired long-term spatial reference memory and a decreased theta frequency in hippocampus and prefrontal cortex. Electroencephalogram characterization revealed auditory processing......Background: Genome-wide scans have uncovered rare copy number variants conferring high risk of psychiatric disorders. The 15q13.3 microdeletion is associated with a considerably increased risk of idiopathic generalized epilepsy, intellectual disability, and schizophrenia. Methods: A 15q13.......3 microdeletion mouse model (Df[h15q13]/) was generated by hemizygous deletion of the orthologous region and characterized with focus on schizophrenia- and epilepsy-relevant parameters. Results: Df(h15q13)/ mice showed marked changes in neuronal excitability in acute seizure assays, with increased propensity...

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Science.gov (United States)

Paciorkowski, Alex R.; Traylor, Ryan N.; Rosenfeld, Jill A.; Hoover, Jacqueline M.; Harris, Catharine J.; Winter, Susan; Lacassie, Yves; Bialer, Martin; Lamb, Allen N.; Schultz, Roger A.; Berry-Kravis, Elizabeth; Porter, Brenda E.; Falk, Marni; Venkat, Anu; Vanzo, Rena J.; Cohen, Julie S.; Fatemi, Ali; Dobyns, William B.; Shaffer, Lisa G.; Ballif, Blake C.; Marsh, Eric D.

2013-01-01

MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported patient with MEF2C deletion at 5q14.3. We detail the neurobehavioral phenotype, epilepsy, and abnormal movements, and compare our subjects with those previously reported in the literature. We also investigate Mef2c expression in the developing mouse forebrain. A spectrum of neurofunctional deficits emerges, with hyperkinesis a consistent finding. Epilepsy varied from absent to severe, and included intractable myoclonic seizures and infantile spasms. Subjects with partial MEF2C deletion were statistically less likely to have epilepsy. Finally, we confirm that Mef2c is present both in dorsal primary neuroblasts and ventral gamma-aminobutyric acid(GABA)ergic interneurons in the forebrain of the developing mouse. Given interactions with several key neurodevelopmental genes such as ARX, FMR1, MECP2, and TBR1, it appears that MEF2C plays a role in several developmental stages of both dorsal and ventral neuronal cell types. PMID:23389741

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

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Jun-Sang Sunwoo

2010-10-01

Full Text Available Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.

Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study.

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Aguglia, U; Le Piane, E; Gambardella, A; Messina, D; Russo, C; Sirchia, S M; Porta, G; Quattrone, A

1999-09-01

We have described a clinical EEG and molecular genetic study of a 9-year-old boy with inv-dup(15) syndrome in whom seizures were induced by emotionally gratifying stimuli. The reflex seizures began 5-20 s after the onset of repeated cheek-kissing from his mother or after viewing of pleasant or funny events. They were characterized by bilateral discharges involving mainly the temporal regions and evolving into myoclonic absence-like seizures. Nonemotional stimuli, such as a pinch, sucking or rubbing his cheeks, or the sound of the kiss alone, failed to provoke seizures. The seizures were resistant to antiepileptic (AED) treatments. Molecular genetic investigations revealed a correct methylation pattern of the chromosomes 15, and three copies (two maternal and one paternal) of the segment 15q11-q13, including the GABRb3 gene. We hypothesize that an overexpression of cerebral gamma-aminobutyric acid (GABA)-mediated inhibition accounts for the severe epilepsy that we observed in this patient.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Science.gov (United States)

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

2016-11-01

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

Smoking prevalence and seizure control in Chinese males with epilepsy.

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Gao, Hui; Sander, Josemir W; Du, Xudong; Chen, Jiani; Zhu, Cairong; Zhou, Dong

2017-08-01

Smoking has a negative effect on most diseases, yet it is under-investigated in people with epilepsy; thus its role is not clear in the general population with epilepsy. We performed a retrospective pilot study on males with epilepsy to determine the smoking rate and its relationship with seizure control using univariate analysis to calculate odds ratios (ORs) and also used a multi-variate logistic regression model. The smoking rate in our sample of 278 individuals was 25.5%, which is lower than the general Chinese population smoking rate among males of 52.1%. We used two classifications: the first classified epilepsy as generalized, or by presumed topographic origin (temporal, frontal, parietal and occipital). The second classified the dominant seizure type of an individual as generalized tonic clonic seizure (GTCS), myoclonic seizure (MS), complex partial seizure (CPS), simple partial seizure (SPS), and secondary GTCS (sGTCS). The univariable analysis of satisfactory seizure control profile and smoking rate in both classifications showed a trend towards a beneficial effect of smoking although most were not statistically significant. Considering medication is an important confounding factor that would largely influence seizure control, we also conducted multi-variable analysis for both classifications with drug numbers and dosage. The result of our model also suggested that smoking is a protective factor. Our findings seem to suggest that smoking could have a potential role in seizure control although confounders need exploration particularly in view of the potential long term health effects. Replication in a much larger sample is needed as well as case control studies to elucidate this issue. Copyright © 2017 Elsevier Inc. All rights reserved.

Unconsciousness, automatisms, and myoclonic jerks with diffuse rhythmic 9-Hz discharges.

Science.gov (United States)

Nadel, A; Waddell, G; Volow, M; Escueta, A V

1975-09-01

A 25-year-old man presented with seizures characterized by unconsciousness, automatic behavior, and myoclonic jerks lasting 0.5 to 8 sec. Videotape analysis of 300 simultaneously recorded electroencephalographic and clinical attacks revealed 8- to 9-Hz 150 to 200 muV sharp waves beginning in both medial temporal areas during eyelid flutters. When discharges spread diffusely on both sides and lasted 2 to 3 sec, 20 degrees forward flexion of the head, unconsciousness, pupil dilation, and staring became evident. Asymmetrical myoclonic jerks invariably appeared. When paroxysms were greater than 3 sec, automatisms and tonic posturing occurred. The electroencephalographic and clinical seizures appeared during the awake and relaxed states, i.e., with normal alpha rhythm. They were suppressed during physical and mental activities and during sleep, i.e., in the absence of alpha rhythm. Our studies suggest that these seizures associated with diffuse electroencephalographic alpha-like activities are subcortical in origin and should be tested in their responsivity to alpha suppressants and inducers.

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

Science.gov (United States)

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

2013-10-01

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

Myoclonic encephalopathy after exposure to trichloroethylene.

Science.gov (United States)

Sanz, Pere; Nogué, Santiago; Vilchez, Daniel; Salvadó, Elisa; Casal, Amparo; Logroscino, Giancarlo

2008-12-01

Trichloroethylene is a widely-used industrial solvent that is absorbed through the digestive or respiratory tracts or cutaneously. It has a selective tropism for the cardiovascular and central nervous systems and may cause death due to cardiac arrest or neurological sequelae. We present the case of a 25-yr-old women who was exposed to trichloroethylene in the workplace for 18 months and who developed a disabling myoclonic encephalopathy. Non-toxicological causes were excluded. Although the exposure ceased, the disease progressed with thalamic and cerebellar involvement. The patient, who had only a partial response to symptomatic treatment, suffered severe limitations in the activities of daily living and was registered as permanently disabled due to a work-related disability.

Disease: H00810 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available ogressive myoclonic epilepsy (PME) is a syndrome complex characterized by progressive myoclonus, cognitive i...lla P, Genton P ... TITLE ... Description of a family with a novel progressive myoclonus epilepsy and cognitive

Definition and classification of epilepsy. Classification of epileptic seizures 2016

Directory of Open Access Journals (Sweden)

K. Yu. Mukhin

2017-01-01

Full Text Available Epilepsy is one of the most common neurological diseases, especially in childhood and adolescence. The incidence varies from 15 to 113 cases per 100 000 population with the maximum among children under 1 year old. The prevalence of epilepsy is high, ranging from 5 to 8 cases (in some regions – 10 cases per 1000 children under 15 years old. Classification of the disease has great importance for diagnosis, treatment and prognosis. The article presents a novel strategy for classification of epileptic seizures, developed in 2016. It contains a number of brand new concepts, including a very important one, saying that some seizures, previously considered as generalized or focal only, can be, in fact, both focal and generalized. They include tonic, atonic, myoclonic seizures and epileptic spasms. The term “secondarily generalized seizure” is replace by the term “bilateral tonic-clonic seizure” (as soon as it is not a separate type of epileptic seizures, and the term reflects the spread of discharge from any area of cerebral cortex and evolution of any types of focal seizures. International League Against Epilepsy recommends to abandon the term “pseudo-epileptic seizures” and replace it by the term “psychogenic non-epileptic seizures”. If a doctor is not sure that seizures have epileptic nature, the term “paroxysmal event” should be used without specifying the disease. The conception of childhood epileptic encephalopathies, developed within this novel classification project, is one of the most significant achievements, since in this case not only the seizures, but even epileptiform activity can induce severe disorders of higher mental functions. In addition to detailed description of the new strategy for classification of epileptic seizures, the article contains a comprehensive review of the existing principles of epilepsy and epileptic seizures classification.

Dravet syndrome

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Incorpora Gemma

2009-09-01

Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

Science.gov (United States)

Cohen, Rony; Basel-Vanagaite, Lina; Goldberg-Stern, Hadassah; Halevy, Ayelet; Shuper, Avinoam; Feingold-Zadok, Michal; Behar, Doron M; Straussberg, Rachel

2014-11-01

To characterize a new subset of early myoclonic encephalopathy usually associated with metabolic etiologies with a new genetic entity. We describe two siblings with early myoclonic encephalopathy born to consanguineous parents of Arab Muslim origin from Israel. We used homozygosity mapping and candidate gene sequencing to reveal the genetic basis of the myoclonic syndrome. We found a rare missense mutation in the gene encoding one of the two mitochondrial glutamate/H symporters, SLC25A22. The phenotype of early myoclonic encephalopathy was first linked to the same mutation in 2005 in patients of the same ethnicity as our family. Owing to the devastating nature of this encephalopathy, we focus attention on its clinical history, epileptic semiology, distinct electroencephalography features, and genetic basis. We provide the evidence that an integrated diagnostic strategy combining homozygosity mapping with candidate gene sequencing is efficient in consanguineous families with highly heterogeneous autosomal recessive diseases. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Idiopathic epileptic syndromes and cognition.

Science.gov (United States)

Hommet, Caroline; Sauerwein, Hannelore C; De Toffol, Bertrand; Lassonde, Maryse

2006-01-01

Epilepsy is frequently associated with cognitive impairments which result from various interacting factors. The present paper deals with the contribution of neuropsychology to the characterization of the type of epilepsy and the possible mechanisms underlying idiopathic epileptic syndromes. The non-lesional, so-called idiopathic epilepsies, constitute an interesting model for assessing the relationship between epileptiform EEG discharges and cognition. Among the idiopathic generalized epilepsies, disorders of social integration and personality have been frequently reported in juvenile myoclonic epilepsy (JME). Since similar disturbances are observed in frontal-lobe-lesioned patients, impairments in other frontal lobe functions (e.g. executive functions) might be expected in JME. This gives rise to speculation about the possible underlying pathophysiological mechanisms in JME. With regard to partial idiopathic epilepsies, benign childhood epilepsy with centrotemporal spikes (BCECTS) may provide a useful model for the study of the relationship between epileptiform EEG discharges in the peri-sylvian region and language functions. Furthermore, the description of mild cognitive dysfunctions in BCECTS, and their persistence into adulthood, can provide information about compensatory mechanisms and may allow for the generation of remedial strategies. Thus, 'lesional' neuropsychology has given way to 'dynamic' neuropsychology based on specific postulates. By using the cognitive profile to specify the mechanism underlying the behavioral disturbances observed in different types of epilepsy, neuropsychology may eventually contribute to a revision of the present classification of epileptic syndromes. In addition, the neuropsychological data may help predict the extent and limits of functional recovery and cerebral plasticity.

Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients.

Science.gov (United States)

Manni, Raffaele; De Icco, Roberto; Cremascoli, Riccardo; Ferrera, Giulia; Furia, Francesca; Zambrelli, Elena; Canevini, Maria Paola; Terzaghi, Michele

2016-08-01

It has been debated in the literature whether patients with idiopathic generalized epilepsy (IGE) have a distinctive, evening-oriented chronotype. The few questionnaire-based studies that are available in the literature have conflicting results. The aim of our study was to define chronotype in patients with IGE by determining dim light melatonin onset (DLMO). Twenty adults diagnosed with IGE (grand mal on awakening [GM] in 7 cases and juvenile myoclonic epilepsy in 13 cases) were investigated by means of a face-to-face semistructured sleep interview, Morningness-Eveningness Questionnaire (MEQ), Pittsburgh Sleep Quality Index (PSQI) questionnaire, and a melatonin salivary test with DLMO determination. Eighteen healthy subjects (HC) and 28 patients affected with cryptogenic focal epilepsy (FE) served as controls. The mean MEQ score was significantly lower in patients with IGE than that in patients with FE (49.1±5.9 versus 56.1±8.7 P<0.01) but not significantly lower than that in HC (49.1±5.9 versus 49.3±8.6). Midsleep on free days corrected for sleep duration did not differ significantly between the three subject groups (04:59±01:21h, 04:37±01:17h, 04:29±00:52h). The mean DLMO time in patients with IGE (22:13±01:34h) occurred 49min later than that in HC (21.24±1h), and the melatonin surge within the 30-minute time interval after DLMO in patients with IGE was significantly lower than that in HC (1.51±2.7 versus 3.8±3.6pg/mL P=0.045). Subjective measures of chronotype do not indicate a definite evening-oriented chronotype in patients with IGE. However, the data concerning endogenous melatonin secretion indicate that patients with IGE tend to have a late circadian phase. Further studies are warranted in order to better define the late pattern of endogenous melatonin secretion in patients with IGE and to ascertain the role of this pattern in influencing behavioral chronotype in these subjects. Copyright © 2016. Published by Elsevier Inc.

Disease: H00577 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available syndrome (H01460), Lennox-Gastaut syndrome (H01813), Dravet syndrome (H01818), Epilepsy with myoclonic-astat...ileptic encephalopathy (H00606), and other symptomatic generalized epilepsies. Congenital disorder; Epilepsy... ... Other symptomatic generalized epilepsies include Epilepsy, hearing loss, an...and Hypomagnesemia, seizures, and mental retardation (HOMGSMR). The International League Against Epilepsy (I...tional League Against ... Epilepsy. ... JOURNAL ... Epilepsia 30:389-99 (1989) DOI:10.1111/j.1528-1157.1989.tb05316

Imaging seizure activity: a combined EEG/EMG-fMRI study in reading epilepsy.

Science.gov (United States)

Salek-Haddadi, Afraim; Mayer, Thomas; Hamandi, Khalid; Symms, Mark; Josephs, Oliver; Fluegel, Dominique; Woermann, Friedrich; Richardson, Mark P; Noppeney, Uta; Wolf, Peter; Koepp, Matthias J

2009-02-01

To characterize the spatial relationship between activations related to language-induced seizure activity, language processing, and motor control in patients with reading epilepsy. We recorded and simultaneously monitored several physiological parameters [voice-recording, electromyography (EMG), electrocardiography (ECG), electroencephalography (EEG)] during blood oxygen level-dependent (BOLD) functional magnetic resonance imaging (fMRI) in nine patients with reading epilepsy. Individually tailored language paradigms were used to induce and record habitual seizures inside the MRI scanner. Voxel-based morphometry (VBM) was used for structural brain analysis. Reading-induced seizures occurred in six out of nine patients. One patient experienced abundant orofacial reflex myocloni during silent reading in association with bilateral frontal or generalized epileptiform discharges. In a further five patients, symptoms were only elicited while reading aloud with self-indicated events. Consistent activation patterns in response to reading-induced myoclonic seizures were observed within left motor and premotor areas in five of these six patients, in the left striatum (n = 4), in mesiotemporal/limbic areas (n = 4), in Brodmann area 47 (n = 3), and thalamus (n = 2). These BOLD activations were overlapping or adjacent to areas physiologically activated during language and facial motor tasks. No subtle structural abnormalities common to all patients were identified using VBM, but one patient had a left temporal ischemic lesion. Based on the findings, we hypothesize that reflex seizures occur in reading epilepsy when a critical mass of neurons are activated through a provoking stimulus within corticoreticular and corticocortical circuitry subserving normal functions.

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

DEFF Research Database (Denmark)

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

2015-01-01

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

Disease: H01818 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available t, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 y...a K, Maekawa K ... TITLE ... Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy

Disease: H01995 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available undborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessive...tatin B in progressive myoclonus epilepsy (EPM1) ... JOURNAL ... Science 271:1731-4 (1996) DOI:10.1126/science.271.5256.1731 ...

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Science.gov (United States)

Leshinsky-Silver, Esther; Shuvalov, Ruslan; Inbar, Shani; Cohen, Sarit; Lev, Dorit; Lerman-Sagie, Tally

2011-04-01

An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.

Disease: H00783 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00783 Febrile seizures, including: Febrile convulsions; Generalized epilepsy with... febrile seizure plus (GEFS+); Dravet syndrome/ Severe myoclonic epilepsy in infancy [DS:H01818] Febrile sei... represent the most common form of childhood seizures. Generalized epilepsy with ...febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy...Weber YG, Lerche H ... TITLE ... Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy

SCN1A-related Dravet syndrome : Vaccinations and seizure precipitants in disease course and diagnosis

NARCIS (Netherlands)

Verbeek, N.E.

2015-01-01

Febrile seizures are well known adverse events following childhood vaccinations. If a seizure following vaccination is the first of an evolving epilepsy syndrome, the vaccination might be misinterpreted as the primary cause of the epilepsy. Dravet syndrome (formerly known as severe myoclonic

Clinical features of tuberous sclerosis complex in children with epilepsy

Directory of Open Access Journals (Sweden)

Dong LI

2014-12-01

Full Text Available Objective To explore the clinical features of tuberous sclerosis complex (TSC in children with epilepsy.  Methods The clinical data of 36 TSC children complicated with epilepsy were analyzed retrospectively.  Results All children had epilepsy as first symptom: 23 cases of seizures happened on age less than one year old (63.89%, 8 cases on age 1-3 years old (22.22%, and 5 cases on age more than 3 years old (13.89% . Main attack types were as follows: 12 cases with focal seizures (33.33% , 5 cases with generalized seizures (13.89% , 7 cases with spasms (19.44% and 12 cases (33.33% with mixed seizures. Mental retardation was found in 19 cases (67.86%. Among 30 cases who received brain MRI examination, all had subependymal nodules, 26 cases (86.67% were complicated with cortical and subcortical nodules, 2 cases (6.67% with subependymal giant cell astrocytoma (SEGA, one case (3.33% with pachygyria. EEG examination showed interictal epileptiform discharges in 34 cases (94.44% , including multifocal discharges in 12 patients (35.29% , generalized discharges in 8 patients (23.53% , focal discharges and hypsarrhythmia in 7 patients (20.59% respectively. Seizures were monitored in 8 patients, and the types included spasms in 4 cases, focal seizures in 3 cases, and myoclonic seizures in one case. Seventeen cases (47.22% took one single antiepileptic drug, 12 cases (33.33% took two drugs, and 7 cases (19.44% took three drugs, while one of them underwent surgical treatment. After 0.50-10 year follow-up, seizures free happened in 7 cases (19.44%, improved in 16 cases (44.44%, and invalid in 13 cases (36.11%.  Conclusions Epilepsy is the most common nervous system performance in children TSC, and most seizures begin to happen in infants. The main types of onset are partial seizures and spasms. Most of the patients get improved with antiepileptic drugs. doi: 10.3969/j.issn.1672-6731.2014.12.011

Add-on perampanel in Lance-Adams syndrome.

Science.gov (United States)

Steinhoff, Bernhard J; Bacher, Matthias; Kurth, Christoph; Staack, Anke M; Kornmeier, Reinhold

2016-01-01

Perampanel (PER) is the first-in-class selective, noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist that has been licensed and marketed as antiepileptic drug (AED) indicated for patients with partial-onset and primary generalized tonic-clonic seizures. A positive effect was reported in some patients with epileptic myoclonic jerks in idiopathic generalized epilepsy and in progressive myoclonic epilepsy. We treated a male patient with posthypoxic nonepileptic myoclonus (Lance-Adams syndrome) with add-on PER and achieved an almost complete cessation of jerks. This effect was reproducible and, therefore, we suggest that it might be worth trying PER in comparable cases.

Reflex epileptic mechanisms in humans: Lessons about natural ictogenesis.

Science.gov (United States)

Wolf, Peter

2017-06-01

The definition of reflex epileptic seizures is that specific seizure types can be triggered by certain sensory or cognitive stimuli. Simple triggers are sensory (most often visual, more rarely tactile or proprioceptive; simple audiogenic triggers in humans are practically nonexistent) and act within seconds, whereas complex triggers like praxis, reading and talking, and music are mostly cognitive and work within minutes. The constant relation between a qualitatively, often even quantitatively, well-defined stimulus and a specific epileptic response provides unique possibilities to investigate seizure generation in natural human epilepsies. For several reflex epileptic mechanisms (REMs), this has been done. Reflex epileptic mechanisms have been reported less often in focal lesional epilepsies than in idiopathic "generalized" epilepsies (IGEs) which are primarily genetically determined. The key syndrome of IGE is juvenile myoclonic epilepsy (JME), where more than half of the patients present reflex epileptic traits (photosensitivity, eye closure sensitivity, praxis induction, and language-induced orofacial reflex myocloni). Findings with multimodal investigations of cerebral function concur to indicate that ictogenic mechanisms in IGEs largely (ab)use preexisting functional anatomic networks (CNS subsystems) normally serving highly complex physiological functions (e.g., deliberate complex actions and linguistic communication) which supports the concept of system epilepsy. Whereas REMs in IGEs, thus, are primarily function-related, in focal epilepsies, they are primarily localization-related. This article is part of a Special Issue entitled "Genetic and Reflex Epilepsies, Audiogenic Seizures and Strains: From Experimental Models to the Clinic". Copyright © 2015 Elsevier Inc. All rights reserved.

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

DEFF Research Database (Denmark)

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

2011-01-01

region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes...

Epileptic negative drop attacks in atypical benign partial epilepsy: a neurophysiological study.

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Hirano, Yoshiko; Oguni, Hirokazu; Osawa, Makiko

2009-03-01

We conducted a computer-assisted polygraphic analysis of drop attacks in a child with atypical benign partial epilepsy (ABPE) to investigate neurophysiological characteristics. The patient was a six-year two-month-old girl, who had started to have focal motor seizures, later combined with daily epileptic negative myoclonus (ENM) and drop attacks, causing multiple injuries. We studied episodes of ENM and drop attacks using video-polygraphic and computer-assisted back-averaging analysis. A total of 12 ENM episodes, seven involving the left arm (ENMlt) and five involving both arms (ENMbil), and five drop attacks were captured for analysis. All episodes were time-locked to spike-and-wave complexes (SWC) arising from both centro-temporo-parietal (CTP) areas. The latency between the onset of SWC and ENMlt, ENMbil, and drop attacks reached 68 ms, 42 ms, and 8 ms, respectively. The height of the spike as well as the slow-wave component of SWC for drop attacks were significantly larger than that for both ENMlt and ENMbil (p negative myoclonus involving not only upper proximal but also axial muscles, causing the body to fall. Thus, drop attacks in ABPE are considered to be epileptic negative drop attacks arising from bilateral CTP foci and differ from drop attacks of a generalized origin seen in Lennox-Gastaut syndrome and myoclonic-astatic epilepsy.

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

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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.

Effect of lamotrigine on cerebral blood flow in patients with idiopathic generalised epilepsy

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Joo, Eun Yeon [Ewha Womans University, Department of Neurology, College of Medicine, Seoul (Korea); Hong, Seung Bong; Tae, Woo Suk; Han, Sun Jung; Seo, Dae Won [Sungkyunkwan University School of Medicine, Department of Neurology, Samsung Medical Center and Center for Clinical Medicine, SBRI, Gangnam-Gu, Seoul (Korea); Lee, Kyung-Han [Sungkyunkwan University School of Medicine, Department of Nuclear Medicine, Samsung Medical Center and Center for Clinical Medicine, SBRI, Gangnam-Gu, Seoul (Korea); Lee, Mann Hyung [Catholic University of Daegu, College of Pharmacy, Gyeongbuk (Korea)

2006-06-15

The purpose of this study was to investigate the effects of the new anti-epileptic drug, lamotrigine, on cerebral blood flow by performing {sup 99m}Tc-ethylcysteinate dimer (ECD) single-photon emission computed tomography (SPECT) before and after medication in patients with drug-naive idiopathic generalised epilepsy. Interictal {sup 99m}Tc-ECD brain SPECT was performed before drug treatment started and then repeated after lamotrigine medication for 4-5 months in 30 patients with generalised epilepsy (M/F=14/16, 19.3{+-}3.4 years). Seizure types were generalised tonic-clonic seizure in 23 patients and myoclonic seizures in seven. The mean lamotrigine dose used was 214.1{+-}29.1 mg/day. For SPM analysis, all SPECT images were spatially normalised to the standard SPECT template and then smoothed using a 12-mm full-width at half-maximum Gaussian kernel. The paired t test was used to compare pre- and post-lamotrigine SPECT images. SPM analysis of pre- and post-lamotrigine brain SPECT images showed decreased perfusion in bilateral dorsomedial nuclei of thalami, bilateral uncus, right amygdala, left subcallosal gyrus, right superior and inferior frontal gyri, right precentral gyrus, bilateral superior and inferior temporal gyri and brainstem (pons, medulla) after lamotrigine medication at a false discovery rate-corrected p<0.05. No brain region showed increased perfusion after lamotrigine administration. (orig.)

Ketogenic Diet in Epileptic Encephalopathies

OpenAIRE

Sharma, Suvasini; Tripathi, Manjari

2013-01-01

The ketogenic diet is a medically supervised high-fat, low-carbohydrate diet that has been found useful in patients with refractory epilepsy. It has been shown to be effective in treating multiple seizure types and epilepsy syndromes. In this paper, we review the use of the ketogenic diet in epileptic encephalopathies such as Ohtahara syndrome, West syndrome, Dravet syndrome, epilepsy with myoclonic atonic seizures, and Lennox-Gastaut syndrome.

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

OpenAIRE

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

2014-01-01

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

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

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Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'Arrigo, Stefano; Verrotti, Alberto

2016-01-01

Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2. © 2015 Wiley Periodicals, Inc.

Toxocariasis and epilepsy: systematic review and meta-analysis.

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Graziella Quattrocchi

Full Text Available OBJECTIVE: Human toxocariasis is a zoonotic infection caused by the larval stages of Toxocara canis (T. canis and less frequently Toxocara cati (T. cati. A relationship between toxocariasis and epilepsy has been hypothesized. We conducted a systematic review and a meta-analysis of available data to evaluate the strength of association between epilepsy and Toxocara spp. seropositivity and to propose some guidelines for future surveys. DATA SOURCES: Electronic databases, the database from the Institute of Neuroepidemiology and Tropical Neurology of the University of Limoges (http://www-ient.unilim.fr/ and the reference lists of all relevant papers and books were screened up to October 2011. METHODS: We performed a systematic review of literature on toxocariasis (the exposure and epilepsy (the outcome. Two authors independently assessed eligibility and study quality and extracted data. A common odds ratio (OR was estimated using a random-effects meta-analysis model of aggregated published data. RESULTS: Seven case-control studies met the inclusion criteria, for a total of 1867 participants (850 cases and 1017 controls. The percentage of seropositivity (presence of anti-Toxocara spp. antibodies was higher among people with epilepsy (PWE in all the included studies even if the association between epilepsy and Toxocara spp. seropositivity was statistically significant in only 4 studies, with crude ORs ranging 2.04-2.85. Another study bordered statistical significance, while in 2 of the included studies no significant association was found. A significant (p < 0.001 common OR of 1.92 [95% confidence interval (CI 1.50-2.44] was estimated. Similar results were found when meta-analysis was restricted to the studies considering an exclusively juvenile population and to surveys using Western Blot as confirmatory or diagnostic serological assay. CONCLUSION: Our results support the existence of a positive association between Toxocara spp. seropositivity and

A Native Haitian Woman with Unverricht-Lundborg Disease

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Maliheh Mohamadpour

2017-12-01

Full Text Available Unverricht-Lundborg disease (ULD is an autosomal recessive progressive myoclonic epilepsy. The prevalence is highest in specific European countries and North Africa. Affected individuals have myoclonic and tonic-clonic seizures and a variable degree of ataxia and cognitive impairment. We report a native Haitian woman with ULD who was wheelchair bound due to nearly continuous myoclonic seizures exacerbated by activity and emotional distress. The seizures and their dramatic increase with volitional activity were recorded during video electroencephalography monitoring. Rational antiepileptic drug therapy controlled the seizures well enough for the patient to achieve a level of independence she had not experienced in over 25 years.

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

Science.gov (United States)

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

1994-09-01

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

Large-scale structural alteration of brain in epileptic children with SCN1A mutation

OpenAIRE

Lee, Yun-Jeong; Yum, Mi-Sun; Kim, Min-Jee; Shim, Woo-Hyun; Yoon, Hee Mang; Yoo, Il Han; Lee, Jiwon; Lim, Byung Chan; Kim, Ki Joong; Ko, Tae-Sung

2017-01-01

Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic chil...

Epilepsy in patients with Angelman syndrome

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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

Epilepsi

DEFF Research Database (Denmark)

Sabers, Anne; Kjær, Troels W

2014-01-01

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

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

Science.gov (United States)

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

2016-04-01

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

Epilepsy

Science.gov (United States)

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

Epilepsy

Science.gov (United States)

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

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

Science.gov (United States)

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

2016-10-01

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

Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding

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Rajendra Singh Jain

2016-01-01

Full Text Available Lafora body disease (LBD is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies in the neurons, heart, skeletal muscle, liver, and sweat gland duct cells. Electroencephalogram (EEG findings in LBD may include multiple spikes and wave discharges, photosensitivity, multifocal epileptiform discharges, and progressive slowing in background activity. Periodicity in epileptiform discharges has not been frequently depicted in LBD. We herein report an unusual case of LBD who showed generalized periodic epileptiform discharges in EEG.

Brivaracetam: a rational drug discovery success story

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Rogawski, M A

2008-01-01

Levetiracetam, the α-ethyl analogue of the nootropic piracetam, is a widely used antiepileptic drug (AED) that provides protection against partial seizures and is also effective in the treatment of primary generalized seizure syndromes including juvenile myoclonic epilepsy. Levetiracetam was discovered in 1992 through screening in audiogenic seizure susceptible mice and, 3 years later, was reported to exhibit saturable, stereospecific binding in brain to a ∼90 kDa protein, later identified as the ubiquitous synaptic vesicle glycoprotein SV2A. A large-scale screening effort to optimize binding affinity identified the 4-n-propyl analogue, brivaracetam, as having greater potency and a broadened spectrum of activity in animal seizure models. Recent phase II clinical trials demonstrating that brivaracetam is efficacious and well tolerated in the treatment of partial onset seizures have validated the strategy of the discovery programme. Brivaracetam is among the first clinically effective AEDs to be discovered by optimization of pharmacodynamic activity at a molecular target. PMID:18552880

Expression profile and distribution of Efhc1 gene transcript during rodent brain development.

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Conte, Fábio F; Ribeiro, Patrícia A O; Marchesini, Rafael B; Pascoal, Vinícius D B; Silva, Joelcimar M; Oliveira, Amanda R; Gilioli, Rovílson; Sbragia, Lourenço; Bittencourt, Jackson C; Lopes-Cendes, Iscia

2009-09-01

One of the putative causative genes for juvenile myoclonic epilepsy (JME) is EFHC1. We report here the expression profile and distribution of Efhc1 messenger RNA (mRNA) during mouse and rat brain development. Real-time polymerase chain reaction revealed that there is no difference in the expression of Efhc1 mRNA between right and left hemispheres in both species. In addition, the highest levels of Efhc1 mRNA were found at intra-uterine stages in mouse and in adulthood in rat. In common, there was a progressive decrease in Efhc1 expression from 1-day-old neonates to 14-day-old animals in both species. In situ hybridization studies showed that rat and mouse Efhc1 mRNAs are expressed in ependymal cells of ventricle walls. Our findings suggest that Efhc1 expression is more important during initial phases of brain development and that at this stage it could be involved in key developmental mechanisms underlying JME.

Research of the serum level of neuron-specific enolase in children with various types of seizure

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WANG Chun

2012-10-01

Full Text Available Objective To explore the relevance between the level changes of serum neuron-specific enolase (NSE and neuronal damage in various seizure types of children with epilepsy. Methods According to the classification criteria of seizure types formulated by International League Against Epilepsy (ILAE in 1981, 190 children with epilepsy were enrolled including tonic-clonic seizure group (41 cases, tonic seizure group (34 cases, clonic seizure group (22 cases, myoclonic seizure group (12 cases, atonic seizure group (17 cases, absence seizure group (22 cases, simple partial seizure group (21 cases and complex partial seizure group (21 cases, and 64 healthy children were enrolled as control group. The long-range vedio-electroencephalogram (VEEG was operated and the blood samples were collected from these cases within 72 h after their seizures. Results The serum NSE levels of epileptic children were significantly higher than control group (P = 0.000. Among these seizure groups, serum NSE in myoclonic seizure group [(32.42 ± 6.62 ng/ml] was significantly higher than the other types, except for tonic-clonic seizure group (P = 0.062. There was no significant difference among the other types (P > 0.05, for all. According to rank correlation analysis, there was positive corrlation between serum NSE levels and VEEG abnormal intensity (rs = 0.613, P = 0.000. Conclusion The serum NSE were markedly increased in children with epilepsy after seizures, suggesting that a certain degree of neuronal damage may result from seizures; the higher NSE levels were, the more serious neuronal damage caused by epileptiform discharges was. The serum NSE levels in myoclonic seizure group and tonic-clonic seizure group were significantly higher than other seizure types, indicating the two kinds of seizures may result in greater neuronal damage.

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

Science.gov (United States)

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

2013-10-01

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

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Science.gov (United States)

Elia, M; Falco, M; Ferri, R; Spalletta, A; Bottitta, M; Calabrese, G; Carotenuto, M; Musumeci, S A; Lo Giudice, M; Fichera, M

2008-09-23

To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations. Eight boys (age range 3-16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis. We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep. This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.

Hereditary epilepsy syndromes

NARCIS (Netherlands)

Callenbach, PMC; Brouwer, OF

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

Epilepsy

Science.gov (United States)

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

Epilepsy: Indian perspective

Directory of Open Access Journals (Sweden)

Nandanavana Subbareddy Santhosh

2014-01-01

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

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

Science.gov (United States)

Shorvon, Simon

2014-03-01

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

Lafora disease: from genotype to phenotype* Rashmi Parihar ...

Indian Academy of Sciences (India)

S.Ganesh

The progressive myoclonic epilepsy of Lafora, or Lafora disease, is a neurodegenerative .... interact with a number of proteins, a possible disease modifying role for these interacting proteins are .... substrates are low (Mittal et al. 2015). Laforin ..... Roemer MI. 1990 Public and private sectors in health system development.

Epilepsia mioclônica progressiva: aspectos clínicos, poligráficos e histopatológicos de um caso Progressive myoclonic epilepsy: clinical, polygraphic and histopathological aspects. A case report

Directory of Open Access Journals (Sweden)

Wilson Luiz Sanvito

1973-06-01

Full Text Available É relatado um caso caracterizado clinicamente por crises mioclônicas, crises convulsivas do tipo grande mal e rebaixamento mental progressivo. O estudo histo-patológico revelou a presença de corpúsculos intracitoplasmáticos no sistema nervoso central, com as características dos corpúsculos de Lafora. São feitas considerações clínicas, poligráficas, histopatológicas e etiopatogênicas a propósito da epilepsia mioclônica progressiva.A case with myoclonic jerks, grand mal convulsions and progressive mental retardation is reported. The patient died after 4 years and 10 months of disease, and a sister began with similar simptomatology at this time. By histopathological study there were found intracitoplasmatic bodies in the cerebral cortex, basal ganglia, cerebelum and myocardium. Some considerations are made about clinical, polygraphic histological and etiopathogenic aspects.

Epilepsy

Science.gov (United States)

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

Epilepsy and driving

Directory of Open Access Journals (Sweden)

Matej Mavrič

2015-05-01

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

Unique Genetic Loci Identified for Emotional Behavior in Control and Chronic Stress Conditions

Science.gov (United States)

2014-10-21

schedule of one to two mild to moderate physiological and psychological stres- sors daily 5 days a week. Stressors included novel overnight home cage...1/ epilepsy , progressive myoclonic 2B (Nhlrc1/EPM2B). Knockout of this gene results in episodic memory deficits assessed by the object recognition

Prevention of Status Epilepticus in Dravet Syndrome: Nationwide Survey in Japan

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2008-11-01

Full Text Available Child neurologists and epileptologists at various university centers in Japan were surveyed by questionnaire to identify the most effective strategies for management of and prophylaxis against status epilepticus (SE in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome, especially when associated with fever.

Epilepsie aktuell

DEFF Research Database (Denmark)

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

2016-01-01

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

Opercular myoclonic-anarthric status epilepticus: A report of two cases

Directory of Open Access Journals (Sweden)

Janapareddy Vijaya Bhaskara Rao

2013-01-01

Full Text Available Opercular myoclonic-anarthric status epilepticus (OMASE is an uncommon disorder of diverse etiology. This condition is characterized by fluctuating cortical dysarthria associated with epileptic myoclonus involving glossopharyngeal musculature bilaterally. We report two cases of OMASE of vascular etiology in adults. In both patients, ictally clonic expression was consistent with epilepsia partialis continua and bilateral, symmetrical involvement of soft palate in one patient and tongue, lips, chin and inferior jaw in both patients due to bilateral projections of the inferior corticonuclear pathways. The inferior rolandic area of dominant and high frontal region in non-dominant hemispheres were involved by an epileptogenic lesion of vascular etiology, which was confirmed by magnetic resonance imaging of brain and single photon emission computerized tomography. Carotid Doppler study showed thrombosis of internal carotid artery in both patients, suggestive of an embolic origin. Early recognition of OMASE is important for early management of carotid occlusive disease.

TBC1D24 genotype–phenotype correlation

Science.gov (United States)

Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J.; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J. Lloyd; Lesca, Gaetan; Mancardi, Maria M.; Poulat, Anne L.; Repetto, Gabriela M.; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E.; Bosch, Friedrich; Brockmann, Knut; Cross, J. Helen; Doummar, Diane; Félix, Temis M.; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; Kayserili, Hulia; Kini, Usha; Lees, Melissa M.; Meenakshi, Girish; Mewasingh, Leena; Pagnamenta, Alistair T.; Peluso, Silvio; Mey, Antje; Rice, Gregory M.; Rosenfeld, Jill A.; Taylor, Jenny C.; Troester, Matthew M.; Stanley, Christine M.; Ville, Dorothee; Walkiewicz, Magdalena; Falace, Antonio; Fassio, Anna; Lemke, Johannes R.; Biskup, Saskia; Tardif, Jessica; Ajeawung, Norbert F.; Tolun, Aslihan; Corbett, Mark; Gecz, Jozef; Afawi, Zaid; Howell, Katherine B.; Oliver, Karen L.; Berkovic, Samuel F.; Scheffer, Ingrid E.; de Falco, Fabrizio A.; Oliver, Peter L.; Striano, Pasquale; Zara, Federico

2016-01-01

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). Results: Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsiveness, and physical examination. In silico evaluation revealed 7 different highly conserved motifs, with the most common pathogenic mutation located in the first. Neuronal outgrowth assays showed that some TBC1D24 mutations, associated with the most severe TBC1D24-associated disorders, are not necessarily the most disruptive to this gene function. Conclusions: TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. There is no distinct correlation with mutation type or location yet, but patterns are emerging. Given the phenotypic breadth observed, TBC1D24 mutation screening is indicated in a wide variety of epilepsies. A TBC1D24 consortium was formed to develop further research on this gene and its associated phenotypes. PMID:27281533

American Epilepsy Society

Science.gov (United States)

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

Pharmacogenomics in epilepsy.

Science.gov (United States)

Balestrini, Simona; Sisodiya, Sanjay M

2018-02-22

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

Stigma of epilepsy.

Science.gov (United States)

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

2008-09-01

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

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

Science.gov (United States)

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

2017-03-01

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

Mortality in epilepsy.

Science.gov (United States)

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

2007-05-01

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

Epilepsi

DEFF Research Database (Denmark)

Sabers, Anne; Kjær, Troels W

2014-01-01

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

Lafora disease: epidemiology, pathophysiology and management.

LENUS (Irish Health Repository)

Monaghan, Thomas S

2010-07-01

Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin. The condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.

Magnetoencephalography Reveals a Widespread Increase in Network Connectivity in Idiopathic/Genetic Generalized Epilepsy.

Directory of Open Access Journals (Sweden)

Adham Elshahabi

Full Text Available Idiopathic/genetic generalized epilepsy (IGE/GGE is characterized by seizures, which start and rapidly engage widely distributed networks, and result in symptoms such as absences, generalized myoclonic and primary generalized tonic-clonic seizures. Although routine magnetic resonance imaging is apparently normal, many studies have reported structural alterations in IGE/GGE patients using diffusion tensor imaging and voxel-based morphometry. Changes have also been reported in functional networks during generalized spike wave discharges. However, network function in the resting-state without epileptiforme discharges has been less well studied. We hypothesize that resting-state networks are more representative of the underlying pathophysiology and abnormal network synchrony. We studied functional network connectivity derived from whole-brain magnetoencephalography recordings in thirteen IGE/GGE and nineteen healthy controls. Using graph theoretical network analysis, we found a widespread increase in connectivity in patients compared to controls. These changes were most pronounced in the motor network, the mesio-frontal and temporal cortex. We did not, however, find any significant difference between the normalized clustering coefficients, indicating preserved gross network architecture. Our findings suggest that increased resting state connectivity could be an important factor for seizure spread and/or generation in IGE/GGE, and could serve as a biomarker for the disease.

Genetic determinants of common epilepsies

DEFF Research Database (Denmark)

2014-01-01

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

Epilepsy: Is there hope?

Directory of Open Access Journals (Sweden)

Carlos A. M. Guerreiro

2016-01-01

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

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

Science.gov (United States)

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

2014-08-01

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

Current status of epilepsy treatment and efficacy of standard phenobarbital therapy in rural areas of Northern China.

Science.gov (United States)

Yu, Jinbei; Luo, Nan; Wang, Zan; Lin, Weihong

2017-08-01

To investigate the current status of epilepsy treatment and the efficacy and adverse effects of phenobarbital therapy in rural areas of Northern China. A total of 2192 patients diagnosed with convulsive epilepsy were recruited from seven different rural regions in Jilin Province, China to investigate the current status of epilepsy treatment, and 1379 of them were enrolled in a standard phenobarbital therapy trial. Patients were selected according to strict inclusion and exclusion criteria, and medical records for all patients were collected and analyzed before the standard treatment was started. Patients were followed up monthly, and efficacy in 1218 patients was analyzed at 1, 3, 6 and 12 months of treatment. More patients had the initial seizure in juveniles than in adults, and 40.72% of the 2192 patients were not receiving any treatment before the treatment trial. The efficacy of phenobarbital increased and adverse effects decreased within the treatment period. Among the 349 patients who were followed up for 12 months from the beginning of the phenobarbital treatment, seizures were decreased by more than 75% in 71.3% of patients using a low-to-medium dose of phenobarbital. Major adverse effects of phenobarbital included mild exhaustion, drowsiness, dizziness and headache. Standardized long-term and regular administration of phenobarbital at a low-to-medium dose can be used as an effective, economic and safe treatment against epilepsy in rural areas.

Ego functions in epilepsy

DEFF Research Database (Denmark)

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

1988-01-01

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

Imaging of the epilepsies

Energy Technology Data Exchange (ETDEWEB)

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

2005-03-01

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

Imaging of the epilepsies

International Nuclear Information System (INIS)

Urbach, H.

2005-01-01

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

Christianity and epilepsy.

Science.gov (United States)

Owczarek, K; Jędrzejczak, J

2013-01-01

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

[Current management of epilepsy].

Science.gov (United States)

Mizobuchi, Masahiro

2013-09-01

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

Epilepsy after stroke

DEFF Research Database (Denmark)

Olsen, T S; Høgenhaven, H; Thage, O

1987-01-01

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

Epilepsy and Mood Disorders

Directory of Open Access Journals (Sweden)

Sermin Kesebir

2012-03-01

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

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

International Nuclear Information System (INIS)

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

2004-01-01

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

[Epilepsy: incidens, prevalens and causes].

Science.gov (United States)

Forsgren, Lars; Sundelin, Heléne; Sveinsson, Olafur

2018-05-21

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

MERRF Classification: Implications for Diagnosis and Clinical Trials.

Science.gov (United States)

Finsterer, Josef; Zarrouk-Mahjoub, Sinda; Shoffner, John M

2018-03-01

Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome and to assess the strength of evidence of gene-disease associations. Standardized approaches are used to clarify the definition of MERRF, which is essential for patient diagnosis, patient classification, and clinical trial design. Systematic literature and database search with application of standardized assessment of gene-disease relationships using modified Smith criteria and of variants reported to be associated with MERRF using modified Yarham criteria. Review of available evidence supports a gene-disease association for two MT-tRNAs and for POLG. Using modified Smith criteria, definitive evidence of a MERRF gene-disease association is identified for MT-TK. Strong gene-disease evidence is present for MT-TL1 and POLG. Functional assays that directly associate variants with oxidative phosphorylation impairment were critical to mtDNA variant classification. In silico analysis was of limited utility to the assessment of individual MT-tRNA variants. With the use of contemporary classification criteria, several mtDNA variants previously reported as pathogenic or possibly pathogenic are reclassified as neutral variants. MERRF is primarily an MT-TK disease, with pathogenic variants in this gene accounting for ~90% of MERRF patients. Although MERRF is phenotypically and genotypically heterogeneous, myoclonic epilepsy is the clinical feature that distinguishes MERRF from other categories of mitochondrial disorders. Given its low frequency in mitochondrial disorders, myoclonic epilepsy is not explained simply by an impairment of cellular energetics. Although MERRF phenocopies can occur in other genes, additional data are needed to establish a MERRF disease-gene association. This approach to MERRF emphasizes standardized classification rather than clinical

Epilepsy - children

Science.gov (United States)

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

[Genetic system for maintaining the mitochondrial human genome in yeast Yarrowia lipolytica].

Science.gov (United States)

Isakova, E P; Deryabina, Yu I; Velyakova, A V; Biryukova, J K; Teplova, V V; Shevelev, A B

2016-01-01

For the first time, the possibility of maintaining an intact human mitochondrial genome in a heterologous system in the mitochondria of yeast Yarrowia lipolytica is shown. A method for introducing directional changes into the structure of the mitochondrial human genome replicating in Y. lipolytica by an artificially induced ability of yeast mitochondria for homologous recombination is proposed. A method of introducing and using phenotypic selection markers for the presence or absence of defects in genes tRNA-Lys and tRNA-Leu of the mitochondrial genome is developed. The proposed system can be used to correct harmful mutations of the human mitochondrial genome associated with mitochondrial diseases and for preparative amplification of intact mitochondrial DNA with an adjusted sequence in yeast cells. The applicability of the new system for the correction of mutations in the genes of Lys- and Leu-specific tRNAs of the human mitochondrial genome associated with serious and widespread human mitochondrial diseases such as myoclonic epilepsy with lactic acidosis (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) is shown.

Post-epilepsy stroke: A review.

Science.gov (United States)

Jin, Jing; Chen, Rong; Xiao, Zheng

2016-01-01

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

Juvenile angiofibroma

Science.gov (United States)

Nasal tumor; Angiofibroma - juvenile; Benign nasal tumor; Juvenile nasal angiofibroma; JNA ... Juvenile angiofibroma is not very common. It is most often found in adolescent boys. The tumor contains many blood ...

Infections, inflammation and epilepsy

Science.gov (United States)

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

2016-01-01

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

Epilepsy: Asia versus Africa.

Science.gov (United States)

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

2014-09-01

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

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

LENUS (Irish Health Repository)

Varley, J

2011-11-17

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

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

LENUS (Irish Health Repository)

Varley, J

2012-02-01

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

Patients as friends -awkward or advantageous? | Moosa | South ...

African Journals Online (AJOL)

Rural General Practitioners often find themselves in a small community having patients as friends. This can lead to difficulty in the relationship. This is a reflection on family friends where I missed the youngest child's diagnosis of myoclonic epilepsy in the social context and which led to a crisis in the relationship. This led me ...

Targeting Epilepsy

Science.gov (United States)

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

Positron emission tomography in epilepsy

International Nuclear Information System (INIS)

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

1989-01-01

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

Approaches to refractory epilepsy

Directory of Open Access Journals (Sweden)

Jerome Engel

2014-01-01

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

77 FR 59197 - Epilepsy Program

Science.gov (United States)

2012-09-26

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

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

Science.gov (United States)

Uusimaa, Johanna; Gowda, Vasantha; McShane, Anthony; Smith, Conrad; Evans, Julie; Shrier, Annie; Narasimhan, Manisha; O'Rourke, Anthony; Rajabally, Yusuf; Hedderly, Tammy; Cowan, Frances; Fratter, Carl; Poulton, Joanna

2013-06-01

To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective, population-based study. Blood samples were analyzed for the three most common POLG mutations. If any of the three tested mutations were found, all the exons and the exon-intron boundaries of the POLG gene were sequenced. In addition, we retrospectively reviewed the notes of patients presenting with intractable epilepsy in which we had found POLG mutations. All available clinical data were collected by questionnaire and by reviewing the medical records. We analyzed 213 blood DNA samples from patients fulfilling the inclusion criteria of the prospective study. Among these, five patients (2.3%) were found with one of the three common POLG mutations as homozygous or compound heterozygous states. In addition, three patients were retrospectively identified. Seven of the eight patients had either raised cerebrospinal fluid (CSF) lactate (n = 3) or brain magnetic resonance imaging (MRI) changes (n = 4) at presentation with intractable epilepsy. Three patients later developed liver dysfunction, progressing to fatal liver failure in two without previous treatment with sodium valproate (VPA). Furthermore, it is worth mentioning that one patient presented first with an autism spectrum disorder before seizures emerged. Mutations in POLG are an important cause of early and juvenile onset nonsyndromic intractable epilepsy with highly variable associated manifestations including autistic features. This study emphasizes that genetic testing for POLG mutations in patients with nonsyndromic intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions

Epilepsy is Dancing.

Science.gov (United States)

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

2015-10-01

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

Genetics Home Reference: myoclonic epilepsy myopathy sensory ataxia

Science.gov (United States)

... Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 ...

Pediatric epilepsy: The Indian experience.

Science.gov (United States)

Gadgil, Pradnya; Udani, Vrajesh

2011-10-01

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

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

Science.gov (United States)

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

2017-09-01

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

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

Science.gov (United States)

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

2016-07-01

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

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

Directory of Open Access Journals (Sweden)

Eman Al-Hashemi

2016-01-01

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

Nuclear imaging in epilepsy

International Nuclear Information System (INIS)

Chun, Kyung Ah

2007-01-01

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

Nuclear imaging in epilepsy

Energy Technology Data Exchange (ETDEWEB)

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

2007-04-15

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

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

NARCIS (Netherlands)

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

2015-01-01

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

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

Science.gov (United States)

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

2015-11-01

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

Epilepsy and vaccinations: Italian guidelines.

Science.gov (United States)

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

2013-10-01

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

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

Science.gov (United States)

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

2018-05-05

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

Recent advances in epilepsy genetics.

Science.gov (United States)

Orsini, Alessandro; Zara, Federico; Striano, Pasquale

2018-02-22

In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

[Sleep disorders in epilepsy].

Science.gov (United States)

Kotova, O V; Akarachkova, E S

2014-01-01

The review of the literature on sleep disorders in epilepsy over the last two decades is presented. Paroxysmal phenomena of epileptic origin, nonepileptic paroxysms, antiepileptic drugs, polypragmasia and comorbid depression may affect sleep in epilepsy.Shortening of sleep time may cause seizures, hallucinations and depression because sleep plays an important role in the regulation of excitatory and inhibitory processes in the brain both in healthy people and in patients with epilepsy. According to the literature data, drugs (short treatment courses of hypnotics) or nonpharmacological methods should be used for treatment insomnia inpatients with epilepsy.

[Building epilepsy care network in Japan].

Science.gov (United States)

Otsuki, Taisuke

2012-01-01

Number of epilepsy patient in Japan officially surveyed by our government in 2008 is 219,000, which is only 0.17% of the total population and less than one third of the prevalence rate reported in Western countries. Number of epilepsy surgery per year in Japan is also low and less than half of other countries such as US, UK and Korea. These numbers may suggest that epilepsy care in Japan is not sufficient to cover all hidden medical needs of people with epilepsy at present. To solve this issue, our research group funded by the government have started to build an epilepsy care network among primary care physicians, secondary care neurology specialists and tertiary care epilepsy centers by utilizing a web site: Epilepsy Care Network-Japan (http://www.ecn-japan.com/) from July 2012. We are also proposing an epilepsy care algorithm suitable for our complex medical community consisted with various neurology specialists such as pediatric and adult neurologists, neurosurgeons and psychiatrists. Building Epilepsy Care Network in Japan may facilitate better medical and social support for people with epilepsy in Japan.

Listening to Epilepsy.

Science.gov (United States)

Brunquell, Phillip J.

1994-01-01

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

Epilepsy treatment and creativity.

Science.gov (United States)

Zubkov, Sarah; Friedman, Daniel

2016-04-01

Creativity can be defined as the ability to understand, develop, and express, in a systematic fashion, novel orderly relationships. It is sometimes difficult to separate cognitive skills requisite for the creative process from the drive that generates unique new ideas and associations. Epilepsy itself may affect the creative process. The treatment of epilepsy and its comorbidities, by altering or disrupting the same neural networks through antiseizure drugs (ASDs), treatment of epilepsy comorbidities, ablative surgery, or neurostimulation may also affect creativity. In this review, we discuss the potential mechanisms by which treatment can influence the creative process and review the literature on the consequences of therapy on different aspects of creativity in people with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". Copyright © 2016 Elsevier Inc. All rights reserved.

Management of epilepsy in elderly

Directory of Open Access Journals (Sweden)

Harsono Harsono

2003-03-01

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

Epilepsy in Adults with TSC

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

Personality characteristics and epilepsy

DEFF Research Database (Denmark)

Sørensen, A S; Hansen, H; Andersen, R

1989-01-01

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

Managing Epilepsy in Pregnancy

LENUS (Irish Health Repository)

O Dwyer, V

2017-02-01

Epilepsy is one of the commonest medical conditions affecting women of childbearing age1. In the most recent triennial report into maternal deaths in Ireland and the UK, two thirds of women who died had a medical condition. In this report, 14 maternal deaths during pregnancy and up to 42 days postpartum were attributable to epilepsy or seizures; a rate of 0.4 per 100,000 maternities. In 12 of these women’ the cause was sudden unexplained death in epilepsy. Thus, epilepsy remains a high-risk condition in pregnancy. The gold standard of care is a multidisciplinary approach involving obstetricians, a neurologist and an epilepsy nurse specialist2. Like other units in Ireland this multidisciplinary service is currently provided in the National Maternity Hospital’s maternal medicine clinic, in conjunction with neurology services in Beaumont Hospital.

Epilepsy and homicide

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Pandya NS

2013-05-01

Full Text Available Neil S Pandya,1 Mirna Vrbancic,2 Lady Diana Ladino,3,4 José F Téllez-Zenteno31Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 2Department of Clinical Health Psychology, Royal University Hospital, Saskatoon, Saskatchewan, Canada; 3Division of Neurology, Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 4Department of Neurology, College of Medicine, University of Antioquia, Medellin, ColombiaPurpose: We report the rare case of a patient with intractable epilepsy and escalating aggression, resulting in murder, who had complete resolution of her seizures and explosive behavior following a right temporal lobectomy.Patients and methods: We searched the available literature from 1880 to 2013 for cases of epilepsy being used as a court defense for murder and collected information regarding the final sentencing outcomes. We selected 15 papers with a total of 50 homicides.Results: We describe the case of a 47-year-old woman with drug-resistant right temporal epilepsy who developed increasing emotional lability, outbursts of anger and escalating violent behavior culminating in a violent murder. The patient was imprisoned while awaiting trial. In the interim, she underwent a successful temporal lobectomy with full resolution of seizures, interictal rage and aggressive behaviors. After the surgery, her charges were downgraded and she was transferred to a psychiatric facility.Conclusion: The aggressive behavior associated with epilepsy has been described in the literature for over a century. A link between epilepsy and aggression has been disproportionally emphasized. These patients share some common characteristics: they are usually young men with a long history of epilepsy and lower than average intelligence. The violent act is postictal, sudden-onset, more likely to occur after a cluster of seizures and is usually related with alcohol abuse.Keywords: aggression, crime, epilepsy

Epilepsy in Dostoevsky.

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Iniesta, Ivan

2013-01-01

Fyodor M. Dostoevsky (Moscow, 1821-Saint Petersburg, 1881) suffered epilepsy throughout his whole literary career. The aim here is to understand his condition in light of his novels, correspondence, and his contemporaries' accounts as well as through the eyes of later generations of neurologists. From Murin (The landlady, 1847) to Smerdyakov (The brothers Karamazov, 1880), Dostoevsky portrayed up to six characters with epilepsy in his literature. The first symptoms of the disease presented in early adulthood, but he was only diagnosed with epilepsy a decade later. In 1863 he went abroad seeking expert advice from the famous neurologists Romberg and Trousseau. Dostoevsky made an intelligent use of epilepsy in his literature (of his experiential auras or dreamy states particularly) and through it found a way to freedom from perpetual military servitude. His case offers an insight into the natural history of epilepsy (a cryptogenic localization related one of either fronto-medial or temporal lobe origin using contemporary medical terms), thus inspiring later generations of writers and neurologists. Furthermore, it illustrates the good use of an ordinary neurological disorder by an extraordinary writer who transformed adversity into opportunity. © 2013 Elsevier B.V. All rights reserved.

Revised version of quality guidelines for presurgical epilepsy evaluation and surgical epilepsy therapy issued by the Austrian, German, and Swiss working group on presurgical epilepsy diagnosis and operative epilepsy treatment.

Science.gov (United States)

Rosenow, Felix; Bast, Thomas; Czech, Thomas; Feucht, Martha; Hans, Volkmar H; Helmstaedter, Christoph; Huppertz, Hans-Jürgen; Noachtar, Soheyl; Oltmanns, Frank; Polster, Tilman; Seeck, Margitta; Trinka, Eugen; Wagner, Kathrin; Strzelczyk, Adam

2016-08-01

The definition of minimal standards remains pivotal as a basis for a high standard of care and as a basis for staff allocation or reimbursement. Only limited publications are available regarding the required staffing or methodologic expertise in epilepsy centers. The executive board of the working group (WG) on presurgical epilepsy diagnosis and operative epilepsy treatment published the first guidelines in 2000 for Austria, Germany, and Switzerland. In 2014, revised guidelines were published and the WG decided to publish an unaltered English translation in this report. Because epilepsy surgery is an elective procedure, quality standards are particularly high. As detailed in the first edition of these guidelines, quality control relates to seven different domains: (1) establishing centers with a sufficient number of sufficiently and specifically trained personnel, (2) minimum technical standards and equipment, (3) continuous medical education of employees, (4) surveillance by trained personnel during video electroencephalography (EEG) monitoring (VEM), (5) systematic acquisition of clinical and outcome data, (6) the minimum number of preoperative evaluations and epilepsy surgery procedures, and (7) the cooperation of epilepsy centers. These standards required the certification of the different professions involved and minimum numbers of procedures. In the subsequent decade, quite a number of colleagues were certified by the trinational WG; therefore, the executive board of the WG decided in 2013 to make these standards obligatory. This revised version is particularly relevant given that the German procedure classification explicitly refers to the guidelines of the WG with regard to noninvasive/invasive preoperative video-EEG monitoring and invasive intraoperative diagnostics in epilepsy. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

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

Science.gov (United States)

Yuen, Eunice S M; Sims, John R

2014-06-01

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

Computer tomographic examinations in epilepsy

International Nuclear Information System (INIS)

De Villiers, J.F.K.

1984-01-01

Epileptic patients that was examined at the Universitas Hospital (Bloemfontein) by means of computerized tomography for the period July 1978 - December 1980, are divided into two groups: a) Patients with general epilepsy of convulsions - 507; b) Patients with vocal or partial epilepsy - 111. The method of examination and the results for both general and vocal epilepsy are discussed. A degenerative state was found in 35% of the positive computer tomographic examinations in general epilepsy and 22% of the positive examinations for vocal epilepsy. The purpose of the article was to explain the circumstances that can be expected when a epileptic patient is examined by means of computerized tomography

Coeliac disease and epilepsy.

LENUS (Irish Health Repository)

Cronin, C C

2012-02-03

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

Epilepsy and Mitochondrial Dysfunction

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Russell P. Saneto DO, PhD

2017-10-01

Full Text Available Epilepsy is a common manifestation of mitochondrial disease. In a large cohort of children and adolescents with mitochondrial disease (n = 180, over 48% of patients developed seizures. The majority (68% of patients were younger than 3 years and medically intractable (90%. The electroencephalographic pattern of multiregional epileptiform discharges over the left and right hemisphere with background slowing occurred in 62%. The epilepsy syndrome, infantile spasms, was seen in 17%. Polymerase γ mutations were the most common genetic etiology of seizures, representing Alpers-Huttenlocher syndrome (14%. The severity of disease in those patients with epilepsy was significant, as 13% of patients experienced early death. Simply the loss of energy production cannot explain the development of seizures or all patients with mitochondrial dysfunction would have epilepsy. Until the various aspects of mitochondrial physiology that are involved in proper brain development are understood, epilepsy and its treatment will remain unsatisfactory.

Rationale for treating epilepsy in children

NARCIS (Netherlands)

Guerrini, R; Arzimanoglou, A; Brouwer, O

2002-01-01

Growing evidence indicates that the effects of antiepileptic drugs on childhood epilepsies are partly linked to the specific type of epilepsy or epilepsy syndrome. Most (but not all) types of epilepsy can be classified into categories that are conceptually meaningful. It is likewise logical to set

Comorbidities associated with epilepsy and headaches

Directory of Open Access Journals (Sweden)

Thalles P. Ferreira

2012-04-01

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

The extratemporal lobe epilepsies in the epilepsy monitoring unit

Science.gov (United States)

Dash, Deepa; Tripathi, Manjari

2014-01-01

Extratemporal lobe epilepsies (ETLE) are characterized by the epileptogenic foci outside the temporal lobe. They have a wide spectrum of semiological presentation depending upon the site of origin. They can arise from frontal, parietal, occipital lobes and from hypothalamic hamartoma. We discuss in this review the semiology of different types of ETLE encountered in the epilepsy monitoring unit. PMID:24791090

38 CFR 4.122 - Psychomotor epilepsy.

Science.gov (United States)

2010-07-01

... of a chronic mental disorder associated with psychomotor epilepsy, like those of the seizures, are... Psychomotor epilepsy. The term psychomotor epilepsy refers to a condition that is characterized by seizures... psychomotor epilepsy vary from patient to patient and in the same patient from seizure to seizure. (b) A...

Art and epilepsy surgery.

Science.gov (United States)

Ladino, Lady Diana; Hunter, Gary; Téllez-Zenteno, José Francisco

2013-10-01

The impact of health and disease has led many artists to depict these themes for thousands of years. Specifically, epilepsy has been the subject of many famous works, likely because of the dramatic and misunderstood nature of the clinical presentation. It often evokes religious and even mythical processes. Epilepsy surgical treatment has revolutionized the care of selected patients and is a relatively recent advance. Epilepsy surgery has been depicted in very few artistic works. The first portrait showing a potential surgical treatment for patients with epilepsy was painted in the 12th century. During the Renaissance, Bosch famously provided artistic commentary on traditional beliefs in "The stone of madness". Several of these works demonstrate a surgeon extracting a stone from a patient's head, at one time believed to be the source of all "folly", including epileptic seizures, psychosis, intellectual disability, depression, and a variety of other illnesses. There are some contemporary art pieces including themes around epilepsy surgery, all of them depicting ancient Inca Empire procedures such as trepanning. This article reviews the most relevant artistic works related with epilepsy surgery and also its historical context at the time the work was produced. We also present a painting from the Mexican artist Eduardo Urbano Merino that represents the patient's journey through refractory epilepsy, investigations, and ultimately recovery. Through this work, the artist intends to communicate hope and reassurance to patients going through this difficult process. © 2013.

Introduction-Pediatric epilepsy surgery techniques.

Science.gov (United States)

Rydenhag, Bertil; Cukiert, Arthur

2017-04-01

This supplement includes the proceedings from the Pediatric Epilepsy Surgery Techniques Meeting held in Gothenburg (July 4-5, 2014), which focused on presentations and discussions regarding specific surgical technical issues in pediatric epilepsy surgery. Pediatric epilepsy neurosurgeons from all over the world were present and active in very fruitful and live presentations and discussions. These articles represent a synopsis of the areas and subjects dealt with there. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Understanding of Epilepsy by Children and Young People with Epilepsy

Science.gov (United States)

Lewis, Ann; Parsons, Sarah

2008-01-01

There is a striking dearth of studies focusing sensitively and in depth on the mainstream educational experiences of children with epilepsy, as viewed by those children themselves. The one-year project (2006-7) reported here addresses that gap. Children's perceptions about mainstream teachers' understanding of epilepsy and school-based needs are…

Diagnostic imaging in focal epilepsy

International Nuclear Information System (INIS)

Zlatareva, D.

2013-01-01

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

Juvenile rheumatoid arthritis

Science.gov (United States)

... joints. This form of JIA may turn into rheumatoid arthritis. It may involve 5 or more large and ... no known prevention for JIA. Alternative Names Juvenile rheumatoid arthritis (JRA); Juvenile chronic polyarthritis; Still disease; Juvenile spondyloarthritis ...

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

DEFF Research Database (Denmark)

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

2015-01-01

the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human...... neurologists and neuroscientists, practitioners, neuropharmacologists and neuropathologists. This has led to an unfortunate situation where different veterinary publications and textbook chapters on epilepsy merely reflect individual author preferences with respect to terminology, which can be confusing...... to the readers and influence the definition and diagnosis of epilepsy in first line practice and research studies.In this document the International Veterinary Epilepsy Task Force (IVETF) discusses current understanding of canine epilepsy and presents our 2015 proposal for terminology and classification...

Rational management of epilepsy.

Science.gov (United States)

Viswanathan, Venkataraman

2014-09-01

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

ADHD in idiopathic epilepsy

Directory of Open Access Journals (Sweden)

Marcos H. C. Duran

2014-01-01

Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

[Epilepsy, cognition and ketogenic diet].

Science.gov (United States)

Garcia-Penas, J J

2018-03-01

Most individuals with epilepsy will respond to pharmacologic treatment; however, approximately 20-30% will develop medically refractory epilepsy. Cognitive side effects of antiepileptic drugs are common and can negatively affect tolerability, compliance, and long-term retention of the treatment. Ketogenic diet is an effective and well-tolerated treatment for these children with refractory epilepsy without any negative effect on cognition or behavior. To review the current state of experimental and clinical data concerning the neuroprotective and cognitive effects of the ketogenic diet in both humans and animals. In different animal models, with or without epilepsy, the ketogenic diet seems to have neuroprotective and mood-stabilizing effects. In the observational studies in pediatric epilepsy, improvements during treatment with the ketogenic diet are reported in behavior and cognitive function, particularly with respect to attention, alertness, activity level, socialization, and sleep quality. One randomized controlled trial in patients with pediatric refractory epilepsy showed a mood and cognitive activation during ketogenic diet treatment. Ketogenic diet shows a positive impact on behavioral and cognitive functioning in children and adolescents with refractory epilepsy. More specifically, an improvement is observed in mood, sustained attention, and social interaction.

Intrathecal immunoglobulin synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic').

Science.gov (United States)

Fauser, S; Soellner, C; Bien, C G; Tumani, H

2017-09-01

To compare the frequency of intrathecal immunoglobulin (Ig) synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic'). Patients with epileptic (n = 301) and non-epileptic (n = 10) seizures were retrospectively screened for autochthonous intrathecal Ig synthesis and oligoclonal bands (OCBs) in the cerebrospinal fluid. Intrathecal IgG/OCBs were detected in 8% of patients with epilepsies of unknown etiology, 5% of patients with first seizures of unknown cause and 0-4% of patients with epilepsy due to brain tumors, cerebrovascular disease or other etiologies. Intrathecal IgG/OCBs were not seen in patients with psychogenic seizures. Identical OCBs in serum and cerebrospinal fluid were more common in all patient groups (10-40% depending on underlying etiology). Intrathecal IgG synthesis/OCBs were observed slightly more frequently in patients with 'cryptogenic' epilepsy and with first seizures of unknown etiology than in other patient groups. However, this remained an infrequent finding and thus we could not confirm humoral immunity as a leading disease mechanism in patients with epilepsy in general or with unknown etiology in particular. © 2017 EAN.

Confronting the stigma of epilepsy

Directory of Open Access Journals (Sweden)

Sanjeev V Thomas

2011-01-01

Full Text Available Stigma and resultant psychosocial issues are major hurdles that people with epilepsy confront in their daily life. People with epilepsy, particularly women, living in economically weak countries are often ill equipped to handle the stigma that they experience at multiple levels. This paper offers a systematic review of the research on stigma from sociology and social psychology and details how stigma linked to epilepsy or similar conditions can result in stereotyping, prejudice and discrimination. We also briefly discuss the strategies that are most commonly utilized to mitigate stigma. Neurologists and other health care providers, social workers, support groups and policy makers working with epilepsy need to have a deep understanding of the social and cultural perceptions of epilepsy and the related stigma. It is necessary that societies establish unique determinants of stigma and set up appropriate strategies to mitigate stigma and facilitate the complete inclusion of people with epilepsy as well as mitigating any existing discrimination.

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

Science.gov (United States)

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

2011-01-01

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

Epilepsy

Energy Technology Data Exchange (ETDEWEB)

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

1991-04-01

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

Epilepsy

International Nuclear Information System (INIS)

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

1991-01-01

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

Photoacoustic Imaging of Epilepsy

Science.gov (United States)

2014-04-01

using simulation and phantom experiments; (4) To test and validate the PAT system using a well established animal model of temporal lobe epilepsy ...and evaluation (3) Software Development (4) Animal experiments (5) Rat Model of Temporal Lobe Epilepsy (6) Analysis of the images from the in vivo...details please see the progress report of the third year of the project. 5. Rat Model of Temporal Lobe Epilepsy (Task 6) During months 37-48 of this

[Tropical causes of epilepsy].

Science.gov (United States)

Carod-Artal, F J

Eighty-five percent of all epileptics live in tropical regions. Prenatal risk factors, traumatic brain injuries and different parasitic infestations of the central nervous system (CNS) are the reasons behind the high prevalence of epilepsy. This work reviews the main parasitic infestations causing epilepsy in the tropics. Neurocysticercosis is the main cause of focal epilepsy in early adulthood in endemic areas (30-50%). All the phases of cysticerci (viable, transitional and calcified) are associated with epileptic seizures. Anti-cysticercus treatment helps get rid of cysticerci faster and reduces the risk of recurrence of seizures in patients with viable cysts. Symptomatic epilepsy can be the first manifestation of neuroschistosomiasis in patients without any systemic symptoms. The pseudotumoral form can trigger seizures secondary to the presence of granulomas and oedemas in the cerebral cortex. The eggs of Schistosoma japonicum are smaller, reach the CNS more easily and trigger epileptic seizures more frequently. Toxocariasis and sparganosis are other parasitic infestations that can give rise to symptomatic seizures. The risk factors for suffering chronic epilepsy after cerebral malaria are a positive familial history of epilepsy and a history of episodes of fever and cerebral malaria that began with coma or which progressed with multiple, prolonged epileptic seizures. About 20% of patients with cerebral infarction secondary to Chagas disease present late vascular epilepsy as a complication. Very few studies have been conducted to examine the prognosis, risk of recurrence and modification of the natural course of seizures associated with tropical parasitic infestations, except for the case of neurocysticercosis.

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

Science.gov (United States)

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

2012-09-01

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

Determinants of felt stigma in epilepsy.

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Aydemir, N; Kaya, B; Yıldız, G; Öztura, I; Baklan, B

2016-05-01

The present study aimed to determine the level of felt stigma, overprotection, concealment, and concerns related to epilepsy in different life domains by using culturally-specific scales for Turkish individuals with epilepsy. Also, it aimed to detect relations among the study variables and to determine the variables which predict felt stigma. For this purpose, felt stigma scale, overprotection scale, concealment of epilepsy scale, and concerns of epilepsy scale were administered to two hundred adult persons with epilepsy (PWE). The results showed that almost half of the participants reported felt stigma, overprotection, concealment of epilepsy, concerns related to future occupation, and concerns related to social life. Almost all the study variables show correlations with each other. Concealment of epilepsy, concerns related to social life, and concerns related to future occupation were found as the predictors of felt stigma. Copyright © 2016 Elsevier Inc. All rights reserved.

Rebaudioside A inhibits pentylenetetrazol-induced convulsions in rats

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Yigit Uyanikgil

2016-09-01

Full Text Available The safety of patients with epilepsy consuming sweetening agents, which is becoming increasingly prevalent for various reasons, is a topic that should be emphasized as sensitively as it is for other diseases. Patients with epilepsy consume sweetening agents for different reasons such being diabetic or overweight. They can occasionally be exposed to sweetening agents unrestrainedly through consuming convenience food, primarily beverages. This study aimed to investigate the effects of rebaudioside A (Reb-A, which is a steviol glycoside produced from the herb Stevia rebaudiana (Bertoni, on epileptic seizures and convulsions induced by pentylenetetrazole (PTZ. Forty-eight male rats were used. Twenty-four rats were administered 35 mg/kg PTZ to trigger epileptiform activity; the remaining 24 rats were administered 70 mg/kg PTZ to trigger the convulsion model. The epileptiform activity was evaluated by spike percentage, whereas convulsion was evaluated by Racine's Convulsion Scale and the onset time of the first myoclonic jerk. Statistical analysis revealed a statistically significant decrease in the Racine's Convulsion Scale score and increase in the latency of first myoclonic jerk in a dose-dependent manner for the rat groups in which PTZ epilepsy had been induced and Reb-A had been administered. For the groups that were administered Reb-A, the spike decrease was apparent in a dose-dependent manner, based on the spike percentage calculation. These results indicated that Reb-A has positive effects on PTZ-induced convulsions.

Epilepsy.

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Rotenberg, Alexander

2013-01-01

Noninvasive brain stimulation, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), are emerging as realistic tools for seizure control. Numerous open-label trials and a few recent randomized controlled trials suggest the capacity of both techniques to suppress seizures. Additionally, specialized TMS protocols aimed to map cortical function and to measure cortical excitability may have realistic roles as diagnostic tools in epilepsy. As the prevalence of drug-resistant epilepsy has not changed in recent years, TMS and tDCS offer noninvasive and nonpharmacological options to improve control of intractable seizures. © 2013 Elsevier B.V. All rights reserved.

Understanding Death in Children With Epilepsy.

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Donner, Elizabeth J; Camfield, Peter; Brooks, Linda; Buchhalter, Jeffrey; Camfield, Carol; Loddenkemper, Tobias; Wirrell, Elaine

2017-05-01

Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurological disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP). SUDEP is relatively uncommon in childhood, but the risk increases if epilepsy persists into adulthood. Although the direct cause of SUDEP remains unknown, most often death follows a generalized convulsive seizure and the risk of SUDEP is strongly related to drug-resistant epilepsy and frequent generalized tonic-clonic seizures. The most effective SUDEP prevention strategy is to reduce the frequency of seizures, although a number of seizure detection devices are under development and in the future may prove to be useful for seizure detection for those at particularly high risk. There are distinct benefits for health care professionals to discuss mortality with the family soon after the diagnosis of epilepsy. An individual approach is appropriate. When a child with epilepsy dies, particularly if the death was unexpected, family grief may be profound. Physicians and other health care professionals have a critical role in supporting families that lose a child to epilepsy. This review will provide health care providers with information needed to discuss the risk of death in children with epilepsy and support families following a loss. Copyright © 2017 Elsevier Inc. All rights reserved.

The current treatment options for epilepsy

International Nuclear Information System (INIS)

Sykora, P.; Svecova, L.

2014-01-01

Epilepsy is the most prevalent chronic brain disease manifesting with epileptic seizures. Epilepsy itself is not one nosological entity, it rather includes several diseases with various etiology, clinics, course and therapy. Antiepileptic therapy aims seizure freedom without affecting psychical and physical functions. The therapy is in first line pharmacological. The choice of antiepileptic drug depends not only on the seizure phenomenology, but also on the respective type of epilepsy syndrome. Most patients achieve seizure freedom or at least significant seizure frequency reduction. In 20-30% of the patients is the pharmacotherapy ineffective. In these cases of refractory epilepsy therapeutical options include epilepsy surgery, vagal stimulation or ketogenic diet. Despite recent advances in the diagnostics and therapy, epilepsy remains a serious medical and social issue. (author)

History of Neuropsychology Through Epilepsy Eyes

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Loring, David W.

2010-01-01

In the 19th century, Hughlings Jackson relied on clinical history, seizure semiology, and the neurologic examination as methods for seizure localization to inform the first epilepsy surgeries. In the 20th century, psychological and neuropsychological tests were first employed as both diagnostic and prognostic measures. The contemporary practice of epilepsy evaluation and management includes neuropsychology as a critical component of epilepsy care and research, and epilepsy and neuropsychology have enjoyed a very special and synergistic relationship. This paper reviews how epilepsy has shaped the practice of neuropsychology as a clinical service by asking critical questions that only neuropsychologists were in a position to answer, and how clinical care of epilepsy patients has been significantly improved based on neuropsychology's unique contributions. PMID:20395259

The causes of epilepsy: changing concepts of etiology of epilepsy over the past 150 years.

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Shorvon, Simon D

2011-06-01

This paper provides a survey of the changing concepts of the etiology of epilepsy from 1860 to 2010, focusing on the first two 50-year periods and outlining more briefly major developments in the past 50 years. Among the concepts reviewed in the first 100 years are: the division between predisposing and exciting causes, idiopathic and genuine epilepsy, organic epilepsy, the concept of "cause" being equivalent to "causal mechanism," Russell Reynolds etiological classification, the neurological taint and theories of degeneration, the self-perpetuating nature of seizures, reflex theories of etiology, autointoxication, heredity and eugenics, epilepsy due to brain disorders, the role of EEG and of hippocampal sclerosis, psychological theories of causation, and the multifactorial view of epilepsy etiology. In the past 50 years, the major advances in studying causation in epilepsy have been: clinical biochemistry, neuroimaging, molecular genetics, studies of mechanisms of epilepsy, better statistical methodologies and classification. A number of general observations can be made: the identification of "cause" is not as simple as it might at first appear; progress in the study of causation has been often erratic and travelled up many cul-de-sacs; theories of causation are heavily influenced by societal influences and fashion, and is also heavily dependent on applied methodologies; the recently explored possibility that the underlying inherited mechanisms of epilepsy are shared with other neuropsychiatric conditions is in effect a reinvention of the concept of the neurological trait, and this has ethical and social implications. Considering and classifying cause in terms of causal mechanism, as was suggested by Hughlings Jackson, is an ultimate goal. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Validation of the PedsQL Epilepsy Module: A pediatric epilepsy-specific health-related quality of life measure.

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Modi, Avani C; Junger, Katherine F; Mara, Constance A; Kellermann, Tanja; Barrett, Lauren; Wagner, Janelle; Mucci, Grace A; Bailey, Laurie; Almane, Dace; Guilfoyle, Shanna M; Urso, Lauryn; Hater, Brooke; Hustzi, Heather; Smith, Gigi; Herrmann, Bruce; Perry, M Scott; Zupanc, Mary; Varni, James W

2017-11-01

To validate a brief and reliable epilepsy-specific, health-related quality of life (HRQOL) measure in children with various seizure types, treatments, and demographic characteristics. This national validation study was conducted across five epilepsy centers in the United States. Youth 5-18 years and caregivers of youth 2-18 years diagnosed with epilepsy completed the PedsQL Epilepsy Module and additional questionnaires to establish reliability and validity of the epilepsy-specific HRQOL instrument. Demographic and medical data were collected through chart reviews. Factor analysis was conducted, and internal consistency (Cronbach's alphas), test-retest reliability, and construct validity were assessed. Questionnaires were analyzed from 430 children with epilepsy (M age = 9.9 years; range 2-18 years; 46% female; 62% white: non-Hispanic; 76% monotherapy, 54% active seizures) and their caregivers. The final PedsQL Epilepsy Module is a 29-item measure with five subscales (i.e., Impact, Cognitive, Sleep, Executive Functioning, and Mood/Behavior) with parallel child and caregiver reports. Internal consistency coefficients ranged from 0.70-0.94. Construct validity and convergence was demonstrated in several ways, including strong relationships with seizure outcomes, antiepileptic drug (AED) side effects, and well-established measures of executive, cognitive, and emotional/behavioral functioning. The PedsQL Epilepsy Module is a reliable measure of HRQOL with strong evidence of its validity across the epilepsy spectrum in both clinical and research settings. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Why epilepsy challenges social life.

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Steiger, Bettina K; Jokeit, Hennric

2017-01-01

Social bonds are at the center of our daily living and are an essential determinant of our quality of life. In people with epilepsy, numerous factors can impede cognitive and affective functions necessary for smooth social interactions. Psychological and psychiatric complications are common in epilepsy and may hinder the processing of social information. In addition, neuropsychological deficits such as slowed processing speed, memory loss or attentional difficulties may interfere with enjoyable reciprocity of social interactions. We consider societal, psychological, and neuropsychological aspects of social life with particular emphasis on socio-cognitive functions in temporal lobe epilepsy. Deficits in emotion recognition and theory of mind, two main aspects of social cognition, are frequently observed in individuals with mesial temporal lobe epilepsy. Results from behavioural studies targeting these functions will be presented with a focus on their relevance for patients' daily life. Furthermore, we will broach the issue of pitfalls in current diagnostic tools and potential directions for future research. By giving a broad overview of individual and interpersonal determinants of social functioning in epilepsy, we hope to provide a basis for future research to establish social cognition as a key component in the comprehensive assessment and care of those with epilepsy. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Uncertainties from a worldwide survey on antiepileptic drug withdrawal after seizure remission.

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Bartolini, Luca; Majidi, Shahram; Koubeissi, Mohamad Z

2018-04-01

We sought to determine differences in practice for discontinuation of antiepileptic drugs (AEDs) after seizure remission and stimulate the planning and conduction of withdrawal trials. We utilized a worldwide electronic survey that included questions about AED discontinuation for 3 paradigmatic cases in remission: (1) focal epilepsy of unknown etiology, (2) temporal lobe epilepsy after surgery, and (3) juvenile myoclonic epilepsy. We analyzed 466 complete questionnaires from 53 countries, including the United States. Statistical analysis included χ 2 and multivariate logistic regression. Case 1: responders in practice for <10 years were less likely to taper AEDs: odds ratio (OR) (95% confidence interval [CI]) 0.52 (0.32-0.85), p = 0.02. The likelihood of stopping AEDs was higher among doctors treating children: OR (95% CI): 11.41 (2.51-40.13), p = 0.002. Doctors treating children were also more likely to stop after 2 years or less of remission: OR (95% CI): 6.91 (2.62-19.31), p = 0.002, and the same was observed for US physicians: OR (95% CI): 1.61 (1.01-2.57), p = 0.0049. Case 2: responders treating children were more likely to taper after 1 year or less of postoperative remission, with the goal of discontinuing all medications: OR (95% CI): 1.91 (1.09-3.12), p = 0.015, and so were US-based responders: OR (95% CI): 1.73 (1.21-2.41), p = 0.003. Case 3: epileptologists were less likely to withdraw the medication: OR (95% CI): 0.56 (0.39-0.82), p = 0.003, and so were those in practice for 10 or more years: OR (95% CI): 0.54 (0.31-0.95), p = 0.025. We observed several differences in practice for AED withdrawal after seizure remission that highlight global uncertainty. Trials of AED discontinuation are needed to provide evidence-based guidance.

Musical and poetic creativity and epilepsy.

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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

Temporal plus epilepsy: Anatomo-electroclinical subtypes

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Andrade-Machado, René; Benjumea-Cuartas, Vanessa

2016-01-01

Background: Mesial temporal lobe epilepsy (TLE) is a remediable epileptic syndrome. About 40% of patients continue to have seizures after standard temporal lobectomy. It has been suggested that some of these patients could actually suffer from a more complex epileptogenic network. Because a few papers have been dedicated to this topic, we decided to write an article updating this theme. Methods: We performed a literature search using the following terminology: “temporal plus epilepsy and networks,” “temporal plus epilepsy,” “orbito-temporal epilepsy,” “temporo-insular epilepsy,” “temporo-parieto-occipital (TPO) epilepsy,” “parieto-temporal epilepsy,” “intracortical evoked potential and temporal plus epilepsy,” “temporal lobe connectivity and epilepsy,” “intracortical evoked potential and epilepsy surgery,” “role of extratemporal structures in TLE,” “surgical failure after temporal lobectomy,” “Diffusion tensor imaging (DTI) and temporal epilepsy,” and “positron emission tomography (PET) in temporal plus lobe epilepsy” in the existing PubMed databases. We searched only English and Spanish literature. Only papers that fit with the above-mentioned descriptors were included as part of the evidence. Other articles were used to reference some aspects of the temporal plus epilepsy. Results: A total of 48 papers from 2334 were revised. The most frequently reported auras in these groups of patients are gustatory hallucinations, vestibular illusions, laryngeal and throat constriction, atypical distribution of somatosensory symptoms (perioral and hands, bilaterally hands paresthesias, trunk and other). The most common signs are tonic posturing, hemifacial twist, and frequent bilateral clonic movements. Interictal electroencephalographic (EEG) patterns exhibit regional and frequently bilateral spikes and/or slow waves. The first ictal electrographic change is mostly regional. It is important to note that the evidence is

Genetics Home Reference: pyridoxine-dependent epilepsy

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

Epilepsy Surgery for Individuals with TSC

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... Privacy Policy Sitemap Learn Engage Donate About TSC Epilepsy Surgery for Individuals with TSC In this video ... Aria Fallah, MD, discusses the surgical treatment of epilepsy in children with tuberous sclerosis complex. Epilepsy is ...

Epilepsy

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

1993-12-31

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

[Modern aspects of epilepsy treatment].

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

2003-01-01

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

Conceptualizing juvenile prostitution as child maltreatment: findings from the National Juvenile Prostitution Study.

Science.gov (United States)

Mitchell, Kimberly J; Finkelhor, David; Wolak, Janis

2010-02-01

Two studies were conducted to identify the incidence (Study 1) and characteristics (Study 2) of juvenile prostitution cases known to law enforcement agencies in the United States. Study 1 revealed a national estimate of 1,450 arrests or detentions (95% confidence interval [CI]: 1,287-1,614) in cases involving juvenile prostitution during a 1-year period. In Study 2, exploratory data were collected from a subsample of 138 cases from police records in 2005. The cases are broadly categorized into three main types: (a) third-party exploiters, (b) solo prostitution, and (c) conventional child sexual abuse (CSA) with payment. Cases were classified into three initial categories based on police orientation toward the juvenile: (a) juveniles as victims (53%), (b) juveniles as delinquents (31%), and (c) juvenile as both victims and delinquents (16%). When examining the status of the juveniles by case type, the authors found that all the juveniles in CSA with payment cases were treated as victims, 66% in third-party exploiters cases, and 11% in solo cases. Findings indicate law enforcement responses to juvenile prostitution are influential in determining whether such youth are viewed as victims of commercial sexual exploitation or as delinquents.

Epilepsy, language, and social skills.

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Caplan, Rochelle

2017-10-04

Language and social skills are essential for intrapersonal and interpersonal functioning and quality of life. Since epilepsy impacts these important domains of individuals' functioning, understanding the psychosocial and biological factors involved in the relationship among epilepsy, language, and social skills has important theoretical and clinical implications. This review first describes the psychosocial and biological factors involved in the association between language and social behavior in children and in adults and their relevance for epilepsy. It reviews the findings of studies of social skills and the few studies conducted on the inter-relationship of language and social skills in pediatric and adult epilepsy. The paper concludes with suggested future research and clinical directions that will enhance early identification and treatment of epilepsy patients at risk for impaired language and social skills. Copyright © 2017 Elsevier Inc. All rights reserved.

Cognition in epilepsy: current clinical issues of interest.

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Witt, Juri-Alexander; Helmstaedter, Christoph

2017-04-01

This review provides an update and summary of recent neuropsychological findings in epilepsy focusing on three major clinical topics among the many developments in the field. We will critically outline the current state with regard to cognition in new-onset epilepsies, social cognition in epilepsy, and the long-term outcome of epilepsy surgery and the cognitive outcomes of superselective surgical procedures. Current studies indicate that neuropsychological impairments are prevalent already at the onset of epilepsy and even before, social cognition (i.e., emotion recognition and theory of mind) is impaired in different epilepsy populations, the long-term outcome of epilepsy surgery is mostly characterized by a stable or even improved cognitive status, and superselective epilepsy surgeries are associated with a promising neuropsychological outcome. The high prevalence of cognitive deficits around epilepsy onset challenges the assumption that epilepsy is the major cause of cognitive problems and calls for early neuropsychological diagnostics. Social cognition seems to be a relevant domain that is not yet routinely considered in epilepsy. The cognitive long-term outcome of epilepsy surgery is mostly positive. Stereotactic thermocoagulation and gamma knife surgery appear to be cognitively safe procedures.

Familial risk of epilepsy: a population-based study

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

2014-01-01

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

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

Science.gov (United States)

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

2017-12-01

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

Genetics Home Reference: myoclonic epilepsy with ragged-red fibers

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... sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition ... that use oxygen to convert the energy from food into a form cells can use through a ...

A dyadic model of living with epilepsy based on the perspectives of adults with epilepsy and their support persons

Science.gov (United States)

Walker, Elizabeth Reisinger; Barmon, Christina; McGee, Robin E.; Engelhard, George; Sterk, Claire E.; DiIorio, Colleen; Thompson, Nancy J.

2015-01-01

Epilepsy is a chronic condition that significantly affects the lives of individuals with epilepsy and their support persons, though few studies have examined the experiences of both individuals. To examine these experiences and explore the interpersonal relationships between dyad members, we conducted in-depth interviews with 22 people with epilepsy and 16 support persons. Data analysis was guided by a grounded theory perspective. We developed a model that shows how epilepsy impacts the lives of both people with epilepsy and support persons and how the experiences of people with epilepsy and supporters influence one another. The core model elements were seizure and treatment factors, relationship characteristics, self-management, seizure control, support provided, illness intrusiveness, and quality of life. People with epilepsy moved through the model in five trajectories depending on seizure control, relationship type, and gender. Support providers followed four trajectories based on seizure control, perception of burden, and support for themselves. People with epilepsy and their primary support providers have varied experiences in how epilepsy affects their lives. This model could serve as a basis for future research and intervention efforts focused on ways to reduce illness intrusiveness and improve quality of life for people with epilepsy and their supporters. PMID:26515151

[Economic aspects of epilepsy].

Science.gov (United States)

Argumosa, A; Herranz, J L

2000-06-01

The economic magnitude of epilepsy is determined by its effect on the employment status of the patients, the cost of drug treatment for them and the healthcare system and the repercussion worldwide. Studies of the cost of the disease show that it has economic importance due to the sum of the direct and indirect costs caused by it. In the case of epilepsy, the results of studies in various countries led to the creation of a Commission on Economic Aspects of Epilepsy. The lack of epidemiological studies regarding epilepsy in Spain may explain the lack of publications on this subject in our country. The percentage of the total cost due to antiepileptic drugs is considerable and will probably increase in the future. The pharmaco-economic evaluation made by cost-benefit, cost-effectiveness, cost-usefulness analysis and studies to minimize costs should serve to use healthcare resources in the most effective manner and justify the rational use of the new antiepileptic drugs. The economic impact of epilepsy is added to the repercussion of the disease itself on the patient and his family. The different distribution of costs in children and adults with epilepsy suggest the need for intervention at an early age to try to reduce the long term economic and personal repercussions. The pharmaco-economic evaluation of the new antiepileptic drugs will make it clear whether their considerable cost is worth paying for their greater effectivity.

Parental Infertility, Fertility Treatment, and Childhood Epilepsy

DEFF Research Database (Denmark)

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

2016-01-01

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

MR imaging findings in patients with epilepsy

International Nuclear Information System (INIS)

Honghan, Gong; Hiraishi, Kumiko; Matsuoka, Takae

1994-01-01

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

Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion.

Science.gov (United States)

Ito, Yuji; Natsume, Jun; Kidokoro, Hiroyuki; Ishihara, Naoko; Azuma, Yoshiteru; Tsuji, Takeshi; Okumura, Akihisa; Kubota, Tetsuo; Ando, Naoki; Saitoh, Shinji; Miura, Kiyokuni; Negoro, Tamiko; Watanabe, Kazuyoshi; Kojima, Seiji

2015-08-01

The aim of this study was to clarify characteristics of post-encephalopathic epilepsy (PEE) in children after acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), paying particular attention to precise diagnosis of seizure types. Among 262 children with acute encephalopathy/encephalitis registered in a database of the Tokai Pediatric Neurology Society between 2005 and 2012, 44 were diagnosed with AESD according to the clinical course and magnetic resonance imaging (MRI) findings and were included in this study. Medical records were reviewed to investigate clinical data, MRI findings, neurologic outcomes, and presence or absence of PEE. Seizure types of PEE were determined by both clinical observation by pediatric neurologists and ictal video-electroencephalography (EEG) recordings. Of the 44 patients after AESD, 10 (23%) had PEE. The period between the onset of encephalopathy and PEE ranged from 2 to 39 months (median 8.5 months). Cognitive impairment was more severe in patients with PEE than in those without. Biphasic seizures and status epilepticus during the acute phase of encephalopathy did not influence the risk of PEE. The most common seizure type of PEE on clinical observation was focal seizures (n = 5), followed by epileptic spasms (n = 4), myoclonic seizures (n = 3), and tonic seizures (n = 2). In six patients with PEE, seizures were induced by sudden unexpected sounds. Seizure types confirmed by ictal video-EEG recordings were epileptic spasms and focal seizures with frontal onset, and all focal seizures were startle seizures induced by sudden acoustic stimulation. Intractable daily seizures remain in six patients with PEE. We demonstrate seizure characteristics of PEE in children after AESD. Epileptic spasms and startle focal seizures are common seizure types. The specific seizure types may be determined by the pattern of diffuse subcortical white matter injury in AESD and age-dependent reorganization of the brain

Epilepsy after Febrile Seizures

DEFF Research Database (Denmark)

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

2016-01-01

to evaluate genetic associations of different febrile seizure subtypes. Results Histories of febrile seizures were validated in 1051 twins in 900 pairs. The febrile seizure type was classified as simple, complex, or febrile status epilepticus. There were 61% simple, 12% complex, and 7% febrile status...... epilepticus. There were 78 twins who developed epilepsy. The highest rate of epilepsy (22.2%) occurred in the febrile status epilepticus group. Concordance was highest in simple group. Conclusion A twin with febrile status epilepticus is at the highest risk of developing epilepsy, but simple febrile seizures...

The social and economic consequences of epilepsy

DEFF Research Database (Denmark)

Jennum, Poul; Gyllenborg, Jesper; Kjellberg, Jakob

2011-01-01

Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy.......Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy....

Personality characteristics and epilepsy

DEFF Research Database (Denmark)

Sørensen, A S; Hansen, H; Andersen, R

1989-01-01

Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served...

Psychiatric Comorbidity in Epilepsy

NARCIS (Netherlands)

Swinkels, Wilhelmina Adriana Maria

2006-01-01

Het proefschrift beschrijft de relatie tussen epilepsie en psychiatrische stoornissen. Voor het onderzoek werden zowel klinische als poliklinische patiënten met epilepsie onderzocht op het voorkomen van DSM as I klinische stoornissen en as II persoonlijkheidsstoornissen. De resultaten werden

Stress and childhood epilepsy

NARCIS (Netherlands)

Campen, J.S. van

2015-01-01

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

Computed tomography of late-onset epilepsy

International Nuclear Information System (INIS)

Kim, Young Sik; Im, Jae Yung; Joo, Yang Goo; Park, Sam Kyoon

1982-01-01

Epilepsy can be divided into idiopathic epilepsy and symptomatic epilepsy according to the existence of underlying organic brain disease. It has been said that the incidence of the symptomatic epilepsy caused by underlying organic brain disease is higher in late-onset epilepsy after the age of 20 than in childhood-onset epilepsy. CT is very sensitive and non-invasive method for detection of organic brain disease. 168 cases of late-onset epilepsy after the age of of 20 were studied by CT in recent 2 years were analyzed. The results were as follows: 1. The 3rd decade was the most frequent age group, and the ratio of male to female was 2.5 : 1. 2. Structural abnormality on brain CT was demonstrated in 51.8% of the patient. 3. The older onset of age was, the higher the ratio of abnormal CT findings, except 5th decade which showed less CT abnormality than 4th decade. 4. The most frequent history related to epilepsy was trauma. 63.1% of patients had no relevant history: and they showed CT findings of brain tumor, atrophy and infraction in decreasing order of frequency. 5. Abnormal CT findings was demonstrated in 49.2% of normal neurologic examination and in 46.4% of normal EEG study. 6. The most frequent lesion of abnormal CT scan in late-onset epilepsy was 30 cases (18.4%) of brain atrophy. The next frequent lesion was 18 cases (10.7%) of brain tumor. Infarction, parasites and calcification were other frequent lesions

Long-term outcome of medically treated epilepsy.

Science.gov (United States)

Sillanpää, M; Schmidt, D

2017-01-01

To review the long-term outcome of epilepsy in population-based studies. Analysis of population-based studies. About two of three patients with new-onset epilepsy will, in the long run, enter five-year terminal remission. Chances for remission are best for those with idiopathic or cryptogenic epilepsy. It is unclear whether the seizure outcome has improved over the last several decades. Social outcome, however, may have become better because of the improved level of knowledge on and public attitudes toward people with epilepsy, and possibly fewer prejudices at home, daycare, school, military and labor market. While we still do not have a cure for epilepsy for all patients, relief of the medical and social consequences is available for many and hope is on the horizon for people with epilepsy. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Epilepsy care in general practice.

LENUS (Irish Health Repository)

Varley, J

2009-06-01

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

Juvenile Arthritis

Science.gov (United States)

Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but ... of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting ...

The representation of epilepsy in popular music.

Science.gov (United States)

Baxendale, Sallie

2008-01-01

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

Spectrum of neurosurgeon's role in epilepsy surgery

Directory of Open Access Journals (Sweden)

Eun-ik Son

2016-06-01

Full Text Available It is well known that there is high quality evidence of epilepsy surgery as an effective and safe option for patients with drug refractory epilepsy by advanced imaging technology and computerized electrophysiological facilities during recent three decades. However, it still remains debate regarding necessities of epilepsy surgery in terms of less satisfactory surgical outcome, especially in non-lesional neocortical epilepsies. This review is for the role of epileptic neurosurgeon rather than the role of epilepsy surgery, namely, the necessity of neurosurgeon's positive participation starting from the first visit of epilepsy patients followed by pertaining process by stages and its degree of contribution. All experienced epilepsy centers also need innovative or challenging trial absolutely through this kind of standpoint, because all of the present protocols and techniques are coming from the past. In any event, the interdepartmental and interpersonal cooperation is inevitable especially for improving patient's quality of life. Serious neurosurgical considerations are needed for patients with intractable epilepsies, especially in referred cases from other center for the purpose of double check, and incongruent cases with contrary opinions by epileptologist.

Behandling af rolandisk epilepsi

DEFF Research Database (Denmark)

Miranda, Maria Jose; Ahmad, Banoo Bakir

2017-01-01

Recent literature indicates, that rolandic epilepsy/epilepsy of childhood with centrotemporal spikes may not be as benign as previously assumed. This study investigates the existing evidence, which describes the treatment effects on seizure frequency as well as improvement of cognition in childre...

What Is Juvenile Arthritis?

Science.gov (United States)

... Initiative Breadcrumb Home Health Topics English Español Juvenile Arthritis Basics In-Depth Download Download EPUB Download PDF What is it? Points To Remember About Juvenile Arthritis Juvenile arthritis is the term used to describe ...

Psychiatric Aspects of Childhood Epilepsy

OpenAIRE

Raman Deep PATTANAYAK; Rajesh SAGAR

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...

Caring for transgender patients with epilepsy.

Science.gov (United States)

Johnson, Emily L; Kaplan, Peter W

2017-10-01

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

Neurocysticercosis as an infectious acquired epilepsy worldwide.

Science.gov (United States)

Reddy, Doodipala Samba; Volkmer, Randy

2017-11-01

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

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

Science.gov (United States)

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

2017-01-01

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

Epilepsi og orale manifestationer

DEFF Research Database (Denmark)

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...

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

Science.gov (United States)

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

2013-01-01

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

Danish experience with paediatric epilepsy surgery

DEFF Research Database (Denmark)

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

2015-01-01

INTRODUCTION: Epilepsy surgery is increasingly used to treat children with medically intractable epilepsy. This study investigates the aetiology and seizure outcome in Danish children operated between 1996 and 2010. METHODS: Retrospectively collected data on structural magnetic resonance imaging...... of children who undergo epilepsy surgery have a good, worthwhile seizure outcome. The seizure outcome for Danish children corresponds to that of other epilepsy surgery centres. The clinical criteria for selection of patients changed over time. FUNDING: none. TRIAL REGISTRATION: The Danish Data Protection...... (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...

Danish experience with paediatric epilepsy surgery

DEFF Research Database (Denmark)

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

2015-01-01

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

Sensory modulation disorders in childhood epilepsy.

Science.gov (United States)

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

2015-01-01

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 disorder (ASD) and attention deficit hyperactivity disorder (ADHD), conditions in which altered behavioral responses to sensory stimuli have been firmly established. A continuum of sensory processing defects due to imbalanced neuronal inhibition and excitation across these disorders has been hypothesizedthat may lead to common symptoms of inadequate modulation of behavioral responses to sensory stimuli. Here, we investigated the prevalence of sensory modulation disorders among children with epilepsy and their relation with symptomatology of neurodevelopmental disorders. We used the Sensory Profile questionnaire to assess behavioral responses to sensory stimuli and categorize sensory modulation disorders in children with active epilepsy (aged 4-17 years). We related these outcomes to epilepsy characteristics and tested their association with comorbid symptoms of ASD (Social Responsiveness Scale) and ADHD (Strengths and Difficulties Questionnaire). Sensory modulation disorders were reported in 49 % of the 158 children. Children with epilepsy reported increased behavioral responses associated with sensory "sensitivity," "sensory avoidance," and "poor registration" but not "sensory seeking." Comorbidity of ASD and ADHD was associated with more severe sensory modulation problems, although 27 % of typically developing children with epilepsy also reported a sensory modulation disorder. Sensory modulation disorders are an under-recognized problem in children with epilepsy. The extent of the modulation difficulties indicates a substantial burden on daily functioning and may explain an important part of the behavioral distress associated with childhood epilepsy.

Complementary and alternative approaches used by parents of children with epilepsy on epilepsy management.

Science.gov (United States)

Işler, Ayşegül; Turan, Fatma Dilek; Gözüm, Sebahat; Oncel, Selma

2014-03-01

The aim of this study was to determine the complementary and alternative approaches used by parents of children with epilepsy on epilepsy management. This descriptive study included a total of 304 parents of children with epilepsy aged between 0 and 18years evaluated at the Pediatric Neurology Clinic of Akdeniz University Hospital in Turkey between January and May 2013. Data were collected by using a questionnaire developed by the researchers. It was determined that all the parents use complementary and alternative approaches for their children with epilepsy, and the most common approaches are praying (99.3%); keeping their children away from the effects of smoking (79.8%); feeding their children walnuts (79.6%), butter (59.2%), and bone marrow (58.6%); providing their children with good quality sleep (58.6%); and enabling their children to play games (51%). The approaches commonly applied during seizures include praying (96.2%), comforting their children in their arms and showing affection (55.6%), waiting for seizures to finish at home (45.7%), and laying children on their side (41.1%). Of parents, 98% stated that alternative approaches enable them to control their child's seizures, 100% said that alternative approaches have no adverse effect, and 98.4% stated that they will continue to use these approaches. The children's approaches to cope with epilepsy included looking after pets (72.7%), listening to music (70.1%), watching television (64.5%), playing games (55.3%), praying (51%), and spending time with friends (48.7%). Most of the approaches used by parents and children with epilepsy for the management of illness are determined to consist of complementary approaches that may contribute to management of epilepsy. Knowing the approaches of parents and children with epilepsy that could adversely affect disease management is important for educating parents and children to avoid these potentially harmful interventions. Copyright © 2013 Elsevier Inc. All rights

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

Science.gov (United States)

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

2017-09-01

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

Neuropsychological Research Approaches in the Epilepsies ...

African Journals Online (AJOL)

The contributions of electro-encephalography to neurology and neurosurgery have tended to overshadow its value for the neuropsychologist as a tool for the study of instability of brain function in relation to the epilepsies and the borderlands of epilepsy. Studies of criminal behaviour have shown a high incidence of epilepsy ...

Self-esteem, behavior, and concerns surrounding epilepsy in siblings of children with epilepsy.

Science.gov (United States)

Mims, J

1997-04-01

Researchers document the emotional impact of epilepsy on the child with seizures. Minimal data are available examining the effects of epilepsy on the siblings of children with seizures. Twenty children whose siblings had either frequent seizures or infrequent seizures were matched by age, gender, and birth order to control subjects with no chronic illness. These three groups were compared. Self-esteem, behavioral and social functioning, and family stress were measured by the Piers-Harris Self-Concept Scale, Child Behavior Checklist, and Family Inventory of Life Events. The siblings of children with epilepsy completed the Sibling Concern About Seizure Scale to define and measure their concerns surrounding epilepsy. There is no statistical difference in self-esteem or social functioning among the three groups. There is a trend toward increased incidence of externalizing behavior in siblings of children with frequent seizures. Data indicate a trend toward siblings of children with frequent seizures having more concerns about epilepsy than siblings of children with infrequent seizures. There is significantly more stress in families of children with frequent seizures compared to families of children with infrequent seizures and families of children with no chronic illness. Although there were no significant differences in the self-esteem, behavior, socialization, and concerns between the siblings in the family when compared to the control group or to each other, there were trends in the results that may be of clinical significance. These issues, along with the level of family stress, should be considered when coordinating and providing care to families of children with intractable epilepsy.

Cognition and dementia in older patients with epilepsy

Science.gov (United States)

Sen, Arjune; Capelli, Valentina

2018-01-01

Abstract With advances in healthcare and an ageing population, the number of older adults with epilepsy is set to rise substantially across the world. In developed countries the highest incidence of epilepsy is already in people over 65 and, as life expectancy increases, individuals who developed epilepsy at a young age are also living longer. Recent findings show that older persons with epilepsy are more likely to suffer from cognitive dysfunction and that there might be an important bidirectional relationship between epilepsy and dementia. Thus some people with epilepsy may be at a higher risk of developing dementia, while individuals with some forms of dementia, particularly Alzheimer’s disease and vascular dementia, are at significantly higher risk of developing epilepsy. Consistent with this emerging view, epidemiological findings reveal that people with epilepsy and individuals with Alzheimer’s disease share common risk factors. Recent studies in Alzheimer’s disease and late-onset epilepsy also suggest common pathological links mediated by underlying vascular changes and/or tau pathology. Meanwhile electrophysiological and neuroimaging investigations in epilepsy, Alzheimer’s disease, and vascular dementia have focused interest on network level dysfunction, which might be important in mediating cognitive dysfunction across all three of these conditions. In this review we consider whether seizures promote dementia, whether dementia causes seizures, or if common underlying pathophysiological mechanisms cause both. We examine the evidence that cognitive impairment is associated with epilepsy in older people (aged over 65) and the prognosis for patients with epilepsy developing dementia, with a specific emphasis on common mechanisms that might underlie the cognitive deficits observed in epilepsy and Alzheimer’s disease. Our analyses suggest that there is considerable intersection between epilepsy, Alzheimer’s disease and cerebrovascular disease raising

Pregnancy Among Women With Epilepsy

Directory of Open Access Journals (Sweden)

Thomas S V

1999-01-01

Full Text Available Problems related to pregnancy and birth defects in the baby are major concerns for women with epilepsy. Hardly any data from this country is available in this regards to provide factual information to people with epilepsy. This study was undertaken to survey the outcome of pregnancies in women with epilepsy in this part of the country. Women with epilepsy (20to55 year of age who had attended this institute between March 1997 and march 1997 were sent a questionnaire by post regarding their martial status, reproductive history and outcome of pregnancies including any birth defects in their children. The data on clinical aspects and treatment were extracted from their medical records. 184 women (mean age 28.5 + 8 years were included in this study. 108 (58.7% of them were married. Women with epilepsy had three times higher rate of abortions (24.1% than general population(8%. Their mean family size (1.6 was lower than that is Kerala State (2.3. The proportion of women without children (13.9% was also higher than that for the state (9.8%. The frequency of birth defects among their children was twice (4% that in the community (2%. Women taking sodium valproate had higher frequency of birth defects in their children (15% as compared to other drugs but this was not statistically significant. There is a tendency for lower fertility among women with epilepsy. There is a slight increase in the frequency of birth defects among children born to mothers with epilepsy.

Behavior Disorders and Epilepsy

OpenAIRE

J Gordon Millichap

1993-01-01

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

Cost of epilepsy: a systematic review.

Science.gov (United States)

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

2008-01-01

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

Effect of seizure on hippocampus in mesial temporal lobe epilepsy and neocortical epilepsy: an MRS study

International Nuclear Information System (INIS)

Lee, S.K.; Kim, D.W.; Kim, K.K.; Chung, C.K.; Song, I.C.; Chang, K.H.

2005-01-01

This study was performed to evaluate the effect of seizures on the bilateral hippocampus in mesial temporal lobe epilepsy (mTLE) and neocortical epilepsy by single voxel proton magnetic resonance spectroscopy (MRS). Forty-one patients with mTLE having unilateral hippocampal sclerosis and 43 patients with a neocortical epilepsy who underwent subsequent epilepsy surgery were recruited. Ninety-five percent confidence intervals of N-acetyl aspartate/choline (NAA/Cho) and NAA/creatine (NAA/Cr) ratios in 20 healthy control subjects were used as threshold values to determine abnormal NAA/Cho and NAA/Cr. NAA/Cho and NAA/Cr were significantly lower in the ipsilateral hippocampus of mTLE and neocortical epilepsy. Using asymmetry indices for patients with bilaterally abnormal ratios of NAA/Cho and NAA/Cr in addition to using unilateral abnormal ratio, the seizure focus was correctly lateralized in 65.9% of patients with mTLE and 48.8% of neocortical epilepsy patients. Bilateral NAA/Cho abnormality was significantly related to a poor surgical outcome in mTLE. No significant relationship was found between the results of NAA/Cho or NAA/Cr and surgical outcome in neocortical epilepsy. The mean contralateral NAA/Cr ratio of the hippocampus in mTLE was significantly lower in patients with a history of secondary generalized tonic-clonic seizure (SGTCS) than in those without. (orig.)

Effect of seizure on hippocampus in mesial temporal lobe epilepsy and neocortical epilepsy: an MRS study

Energy Technology Data Exchange (ETDEWEB)

Lee, S.K.; Kim, D.W.; Kim, K.K. [Seoul National University College of Medicine, Seoul National University Hospital, Department of Neurology, Chongno ku, Seoul (Korea); Chung, C.K. [Seoul National University College of Medicine, Seoul National University Hospital, Department of Neurosurgery, Chongno ku, Seoul (Korea); Song, I.C.; Chang, K.H. [Seoul National University College of Medicine, Seoul National University Hospital, Department of Radiology, Chongno ku, Seoul (Korea)

2005-12-01

This study was performed to evaluate the effect of seizures on the bilateral hippocampus in mesial temporal lobe epilepsy (mTLE) and neocortical epilepsy by single voxel proton magnetic resonance spectroscopy (MRS). Forty-one patients with mTLE having unilateral hippocampal sclerosis and 43 patients with a neocortical epilepsy who underwent subsequent epilepsy surgery were recruited. Ninety-five percent confidence intervals of N-acetyl aspartate/choline (NAA/Cho) and NAA/creatine (NAA/Cr) ratios in 20 healthy control subjects were used as threshold values to determine abnormal NAA/Cho and NAA/Cr. NAA/Cho and NAA/Cr were significantly lower in the ipsilateral hippocampus of mTLE and neocortical epilepsy. Using asymmetry indices for patients with bilaterally abnormal ratios of NAA/Cho and NAA/Cr in addition to using unilateral abnormal ratio, the seizure focus was correctly lateralized in 65.9% of patients with mTLE and 48.8% of neocortical epilepsy patients. Bilateral NAA/Cho abnormality was significantly related to a poor surgical outcome in mTLE. No significant relationship was found between the results of NAA/Cho or NAA/Cr and surgical outcome in neocortical epilepsy. The mean contralateral NAA/Cr ratio of the hippocampus in mTLE was significantly lower in patients with a history of secondary generalized tonic-clonic seizure (SGTCS) than in those without. (orig.)

Clinicopathological study on refractory epilepsy treated by several epilepsy surgeries

Directory of Open Access Journals (Sweden)

Yan LI

2018-04-01

Full Text Available Objective To observe and investigate the clinicopathological features and types of refractory epilepsy treated by several epilepsy surgeries. Methods There were 19 patients with age less than 20 years who underwent 2 (16/19 or 3 (3/19 epilepsy surgeries. After pathological examination, pathological diagnosis and subtype was made according to focal cortical dysplasia (FCD classification proposed by International League Against Epilepsy (ILAE Diagnostic Methods Commission in 2011 and World Health Organization (WHO Classification of Tumors of Central Nervous System in 2007. Results The operation intervals were 1-10 years (average 4.24 years. The pathological diagnoses after first operation were FCDⅠb in 2 cases (2/19, FCDⅡa in 2 cases (2/19, FCDⅢa in one case (1/19, FCDⅢd in one case (1/19, 5 cases of tumor lesions [2 (2/19 of astrocytoma, one (1/19 of oligoastrocytoma, one (1/ 19 of mixed germ cell tumor, one (1/19 of hysembryoplastic neuroepithelial tumor (DNT], one case (1/19 of hamartoma, one case (1/19 of angioma, one case (1/19 of heterotopic gray matter, and 4 cases (4/19 of ulegyria. The last one (1/19 underwent corpus callosal incision. Pathological diagnoses after reoperation were FCDⅢa in 4 cases (4/19, FCDⅢb in 4 cases (4/19, FCDⅢc in one case (1/19, FCDⅢd in 8 cases (8/19, dual pathology (FCDⅢa with oligoastrocytoma and with glial scar and/or ulegyria in 2 cases (2/19. Patients were followed up for 0.50-5.00 years after second or third operation (average 2.34 years, and the results showed Engel Ⅰ in 10 patients (10/19, Engel Ⅱ in 6 patients (6/19 and Engel Ⅲ in 3 patients (3/19. The rate of good prognosis was 84.21%. Conclusions The pathological diagnoses of brain tissue resected from patients accepting several epilepsy surgeries are mainly FCD Ⅲ and dual pathology. It is suggested that the second or third operation would be effective for refractory epilepsy patients who underwent surgery already. DOI: 10

Novel approaches to epilepsy treatment

DEFF Research Database (Denmark)

Sørensen, Andreas T; Kokaia, Merab

2013-01-01

The aim of epilepsy treatment is to achieve complete seizure freedom. Nonetheless, numerous side effects and seizure resistance to antiepileptic drugs (AEDs) affecting about 30-40% of all patients are main unmet needs in today's epileptology. For this reason, novel approaches to treat epilepsy......, and inhibitory neurotransmitters. We also address new molecular-genetic approaches utilizing optogenetic technology. The therapeutic strategies presented herein are predominately aimed toward treatment of partial/focal epilepsies, but could also be envisaged for targeting key seizure propagation areas...... are highly needed. Herein, we highlight recent progress in stem-cell-based and gene transfer-based therapies in epilepsy according to findings in animal models and address their potential clinical application. Multiple therapeutic targets are described, including neuropeptides, neurotrophic factors...

Focal epilepsy in the Belgian shepherd

DEFF Research Database (Denmark)

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

2009-01-01

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

Juvenile Firesetting.

Science.gov (United States)

Peters, Brittany; Freeman, Bradley

2016-01-01

Juvenile firesetting is a significant cause of morbidity and mortality in the United States. Male gender, substance use, history of maltreatment, interest in fire, and psychiatric illness are commonly reported risk factors. Interventions that have been shown to be effective in juveniles who set fires include cognitive behavior therapy and educational interventions, whereas satiation has not been shown to be an effective intervention. Forensic assessments can assist the legal community in adjudicating youth with effective interventions. Future studies should focus on consistent assessment and outcome measures to create more evidence for directing evaluation and treatment of juvenile firesetters. Copyright © 2016 Elsevier Inc. All rights reserved.

Mortality risk in children with epilepsy : The Dutch Study of Epilepsy in Childhood

NARCIS (Netherlands)

Callenbach, PMC; Westendorp, RGJ; Geerts, AT; Arts, WFM; Peeters, EAJ; van Donselaar, VA; Stroink, H; Brouwer, O.F.

Objective. Long-term follow-up studies of patients with epilepsy have revealed an increased mortality risk compared with the general population. Mortality of children who have epilepsy in modern times is as yet unknown. Therefore, the objective of this study was to determine mortality of children

Reduced Language Connectivity in Pediatric Epilepsy

Science.gov (United States)

Leigh N., Sepeta; Louise J., Croft; Lauren A., Zimmaro; Elizabeth S., Duke; Virginia K., Terwilliger; Benjamin E., Yerys; Xiaozhen., You; Chandan J., Vaidya; William D., Gaillard; Madison M., Berl

2014-01-01

Objective Functional connectivity (FC) among language regions is decreased in adults with epilepsy compared to controls, but less is known about FC in children with epilepsy. We sought to determine if language FC is reduced in pediatric epilepsy, and examined clinical factors that associate with language FC in this population. Methods We assessed FC during an age-adjusted language task in children with left-hemisphere focal epilepsy (n=19) compared to controls (n=19). Time series data were extracted for three left ROIs and their right homologues: inferior frontal gyrus (IFG), middle frontal gyrus (MFG), and Wernicke's area (WA) using SPM8. Associations between FC and factors such as cognitive performance, language dominance, and epilepsy duration were assessed. Results Children with epilepsy showed decreased interhemispheric connectivity compared to controls, particularly between core left language regions (IFG, WA) and their right hemisphere homologues, as well as decreased intrahemispheric right frontal FC. Increased intrahemispheric FC between left IFG and left WA was a positive predictor of language skills overall, and naming ability in particular. FC of language areas was not affected by language dominance, as the effects remained when only examining study participants with left language dominance. Overall FC did not differ according to duration of epilepsy or age of onset. Significance FC during a language task is reduced in children, similar to findings in adults. In specific, children with left focal epilepsy demonstrated decreased interhemispheric FC in temporal and frontal language connections and decreased intrahemispheric right frontal FC. These differences were present near the onset of epilepsy. Greater FC between left language centers is related to better language ability. Our results highlight that connectivity of language areas has a developmental pattern and is related to cognitive ability. PMID:25516399

Epilepsy surgery in context of neurocysticercosis

Directory of Open Access Journals (Sweden)

Gagandeep Singh

2014-01-01

Full Text Available The association between neurocysticercosis (NCC and epilepsy is well known and NCC is an important risk factor for epileptic seizures in many Taenia solium-endemic regions of the world. However, while the relationship between NCC and epilepsy is well known, the association between NCC and medically refractory (or surgically remediable epilepsy has received little attention in the past. Our experience and review of the sparse literature available suggests that NCC is causally related to surgically remediable epilepsy albeit uncommonly so and that association derives its underpinnings from several different scenarios: (1 Medically refractory lesional epilepsy, in which seizures arise from the vicinity of the calcified neurocysticercus lesion (CNL, (2 Medically refractory epilepsy with dual pathology type of relationship between the hippocampal sclerosis (HS and CNL in which both have been unequivocally demonstrated to give rise to independent seizures and (3 Mesial temporal lobe epilepsy due to HS with a distantly-located CNL, which is in itself not epileptogenic. A major point of controversy revolves around whether or not there exists a causal association between the CNL and HS. We believe that an association exists between NCC and HS and the most important factor influencing this association is the location of the CNL. Furthermore, NCC is a risk factor for medically-refractory epilepsy and that this might account for a considerable proportion of the intractable epilepsy population in endemic regions; the association has been largely ignored owing to the lack of availability of presurgical work-up facilities in these regions. Finally, from a clinical standpoint of presurgical evaluation, patients with CNL and HS should be evaluated on a case by case basis owing to disparate settings underlying the association.

Epilepsy surgery in context of neurocysticercosis

Science.gov (United States)

Singh, Gagandeep; Chowdhary, Ashwani Kumar

2014-01-01

The association between neurocysticercosis (NCC) and epilepsy is well known and NCC is an important risk factor for epileptic seizures in many Taenia solium-endemic regions of the world. However, while the relationship between NCC and epilepsy is well known, the association between NCC and medically refractory (or surgically remediable epilepsy) has received little attention in the past. Our experience and review of the sparse literature available suggests that NCC is causally related to surgically remediable epilepsy albeit uncommonly so and that association derives its underpinnings from several different scenarios: (1) Medically refractory lesional epilepsy, in which seizures arise from the vicinity of the calcified neurocysticercus lesion (CNL), (2) Medically refractory epilepsy with dual pathology type of relationship between the hippocampal sclerosis (HS) and CNL in which both have been unequivocally demonstrated to give rise to independent seizures and (3) Mesial temporal lobe epilepsy due to HS with a distantly-located CNL, which is in itself not epileptogenic. A major point of controversy revolves around whether or not there exists a causal association between the CNL and HS. We believe that an association exists between NCC and HS and the most important factor influencing this association is the location of the CNL. Furthermore, NCC is a risk factor for medically-refractory epilepsy and that this might account for a considerable proportion of the intractable epilepsy population in endemic regions; the association has been largely ignored owing to the lack of availability of presurgical work-up facilities in these regions. Finally, from a clinical standpoint of presurgical evaluation, patients with CNL and HS should be evaluated on a case by case basis owing to disparate settings underlying the association. PMID:24791092

Neurostimulation as a promising epilepsy therapy.

Science.gov (United States)

Lin, Yicong; Wang, Yuping

2017-12-01

The revolution in theory, swift technological developments, and invention of new devices have driven tremendous progress in neurostimulation as a third-line treatment for epilepsy. Over the past decades, neurostimulation took its place in the field of epilepsy as an advanced treatment technique and opened up a new world. Numerous animal studies have proven the physical efficacy of stimulation of the brain and peripheral nerves. Based on this optimistic fundamental research, new advanced techniques are being explored in clinical practice. Over the past century, drawing on the benefits brought about by vagus nerve stimulation for the treatment of epilepsy, various new neurostimulation modalities have been developed to control seizures. Clinical studies including case reports, case series, and clinical trials have been booming in the past several years. This article gives a comprehensive review of most of these clinical studies. In addition to highlighting the advantages of neurostimulation for the treatment of epilepsy, concerns with this modality and future development directions are also discussed. The biggest advantage of neurostimulation over pharmacological treatments for epilepsy is the modulation of the epilepsy network by delivering stimuli at a specific target or the "hub." Conversely, however, a lack of knowledge of epilepsy networks and the mechanisms of neurostimulation may hinder further development. Therefore, theoretical research on the mechanism of epileptogenesis and epilepsy networks is needed in the future. Within the multiple modalities of neuromodulation, the final choice should be made after full discussion with a multidisciplinary team at a presurgical conference. Furthermore, the establishment of a neurostimulation system with standardized parameters and rigorous guidelines is another important issue. To achieve this goal, a worldwide collaboration of epilepsy centers is also suggested in the future.

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

Science.gov (United States)

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

2013-01-01

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

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

Science.gov (United States)

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

2017-04-01

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

Fractures and Fanconi syndrome due to prolonged sodium valproate use.

Science.gov (United States)

Dhillon, N; Högler, W

2011-06-01

Sodium valproate (VPA) is commonly used to treat epilepsy in children. Renal dysfunction is a rare side eff ect but can present as tubulopathy such as Fanconi syndrome. We report on an 8-year-old disabled girl with myoclonic epilepsy who was referred for investigation of recurrent low impact fractures of the distal femur which were initially thought to be caused by her severe immobility. However, she was subsequently found to have hypophosphataemia secondary to Fanconi syndrome due to prolonged VPA use. After VPA withdrawal renal function and serum phosphate levels normalised and X-rays improved dramatically. The possibility of drug-induced osteoporosis and fractures should always be considered in disabled children, even in the presence of severe immobility.

Reduced pain and inflammation in juvenile and adult rats fed a ketogenic diet.

Directory of Open Access Journals (Sweden)

David N Ruskin

2009-12-01

Full Text Available The ketogenic diet is a high-fat, low-carbohydrate regimen that forces ketone-based rather than glucose-based cellular metabolism. Clinically, maintenance on a ketogenic diet has been proven effective in treating pediatric epilepsy and type II diabetes, and recent basic research provides evidence that ketogenic strategies offer promise in reducing brain injury. Cellular mechanisms hypothesized to be mobilized by ketone metabolism and underlying the success of ketogenic diet therapy, such as reduced reactive oxygen species and increased central adenosine, suggest that the ketolytic metabolism induced by the diet could reduce pain and inflammation. To test the effects of a ketone-based metabolism on pain and inflammation directly, we fed juvenile and adult rats a control diet (standard rodent chow or ketogenic diet (79% fat ad libitum for 3-4 weeks. We then quantified hindpaw thermal nociception as a pain measure and complete Freund's adjuvant-induced local hindpaw swelling and plasma extravasation (fluid movement from the vasculature as inflammation measures. Independent of age, maintenance on a ketogenic diet reduced the peripheral inflammatory response significantly as measured by paw swelling and plasma extravasation. The ketogenic diet also induced significant thermal hypoalgesia independent of age, shown by increased hindpaw withdrawal latency in the hotplate nociception test. Anti-inflammatory and hypoalgesic diet effects were generally more robust in juveniles. The ketogenic diet elevated plasma ketones similarly in both age groups, but caused slowed body growth only in juveniles. These data suggest that applying a ketogenic diet or exploiting cellular mechanisms associated with ketone-based metabolism offers new therapeutic opportunities for controlling pain and peripheral inflammation, and that such a metabolic strategy may offer significant benefits for children and adults.

Long-Term Social Outcomes in Childhood Epilepsy

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2007-12-01

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

Parahippocampal epilepsy with subtle dysplasia: A cause of "imaging negative" partial epilepsy.

Science.gov (United States)

Pillay, Neelan; Fabinyi, Gavin C A; Myles, Terry S; Fitt, Gregory J; Berkovic, Samuel F; Jackson, Graeme D

2009-12-01

Lesion-negative refractory partial epilepsy is a major challenge in the assessment of patients for potential surgery. Finding a potential epileptogenic lesion simplifies assessment and is associated with good outcome. Here we describe imaging features of subtle parahippocampal dysplasia in five cases that were initially assessed as having imaging-negative frontal or temporal lobe epilepsy. We analyzed the clinical and imaging features of five patients with seizures from the parahippocampal region. Five patients had subtle but distinctive magnetic resonance imaging (MRI) abnormalities in the parahippocampal gyrus. This was a unilateral signal abnormality in the parahippocampal white matter extending into gray matter on heavily T(1)- and T(2)-weighted images with relative preservation of the gray-white matter boundary on T(1)-weighted volume sequences. Only one of these patients had typical electroclinical unilateral temporal lobe epilepsy (TLE); one mimicked frontal lobe epilepsy, two showed bitemporal seizures, and one had unlocalized partial seizures. All have had surgery; four are seizure-free (one has occasional auras only, follow-up 6 months to 10 years), and one has a >50% seizure reduction. Histopathologic evaluation suggested dysplastic features in the surgical specimens in all. In patients with lesion-negative partial epilepsy with frontal or temporal semiology, or in cases with apparent bitemporal seizures, subtle parahippocampal abnormalities should be carefully excluded. Recognizing the MRI findings of an abnormal parahippocampal gyrus can lead to successful surgery without invasive monitoring, despite apparently incongruent electroclinical features.

Epilepsy. NICHCY Disability Fact Sheet #6

Science.gov (United States)

National Dissemination Center for Children with Disabilities, 2010

2010-01-01

Epilepsy is a seizure disorder. According to the Epilepsy Foundation of America, a seizure happens when a brief, strong surge of electrical activity affects part or all of the brain. About three million Americans have epilepsy. Of the 200,000 new cases diagnosed each year, nearly 45,000 are children and adolescents. Following a brief story of a…

Epilepsy Genetics—Past, Present, and Future

Science.gov (United States)

Poduri, Annapurna; Lowenstein, Daniel

2014-01-01

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 disorders. Finally, we project toward an exciting future for epilepsy genetics as large-scale collaborative phenotyping studies come face to face with new technologies in genomic medicine. PMID:21277190

Structural magnetic resonance imaging in epilepsy

Energy Technology Data Exchange (ETDEWEB)

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.)

Structural magnetic resonance imaging in epilepsy

International Nuclear Information System (INIS)

Deblaere, Karel; Achten, Eric

2008-01-01

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.)

Sudden unexpected death in epilepsy following resective epilepsy surgery in two patients withdrawn from anticonvulsants.

Science.gov (United States)

Mansouri, Alireza; Alhadid, Kenda; Valiante, Taufik A

2015-09-01

We report sudden unexpected death in epilepsy (SUDEP) following resective epilepsy surgery in two patients who had been documented as seizure free. One patient had been weaned off of anticonvulsants and was leading a normal life. The other patient had discontinued only one anticonvulsant but had recently started working night shifts. Following resective epilepsy surgery, one of the major objectives among patients, caregivers, and the healthcare team is to safely wean patients off anticonvulsant medications. The main concern regarding anticonvulsant withdrawal is seizure recurrence. While SUDEP following surgical resection has been reported, to our knowledge, there have been no confirmed cases in patients who have been seizure free. Considering the patients reported here, and given that there are no concrete guidelines for the safe withdrawal of anticonvulsants following epilepsy surgery, the discontinuation of anticonvulsants should be considered carefully and must be accompanied by close monitoring and counseling of patients regarding activities that lower seizure threshold, even after successful epilepsy surgery. Copyright © 2015 Elsevier Ltd. All rights reserved.

Mortality risks in new-onset childhood epilepsy.

Science.gov (United States)

Berg, Anne T; Nickels, Katherine; Wirrell, Elaine C; Geerts, Ada T; Callenbach, Petra M C; Arts, Willem F; Rios, Christina; Camfield, Peter R; Camfield, Carol S

2013-07-01

Estimate the causes and risk of death, specifically seizure related, in children followed from onset of epilepsy and to contrast the risk of seizure-related death with other common causes of death in the population. Mortality experiences from 4 pediatric cohorts of newly diagnosed patients were combined. Causes of death were classified as seizure related (including sudden unexpected death [SUDEP]), natural causes, nonnatural causes, and unknown. Of 2239 subjects followed up for >30 000 person-years, 79 died. Ten subjects with lethal neurometabolic conditions were ultimately excluded. The overall death rate (per 100 000 person-years) was 228; 743 in complicated epilepsy (with associated neurodisability or underlying brain condition) and 36 in uncomplicated epilepsy. Thirteen deaths were seizure-related (10 SUDEP, 3 other), accounting for 19% of all deaths. Seizure-related death rates were 43 overall, 122 for complicated epilepsy, and 14 for uncomplicated epilepsy. Death rates from other natural causes were 159, 561, and 9, respectively. Of 48 deaths from other natural causes, 37 were due to pneumonia or other respiratory complications. Most excess death in young people with epilepsy is not seizure-related. Mortality is significantly higher compared with the general population in children with complicated epilepsy but not uncomplicated epilepsy. The SUDEP rate was similar to or higher than sudden infant death syndrome rates. In uncomplicated epilepsy, sudden and seizure-related death rates were similar to or higher than rates for other common causes of death in young people (eg, accidents, suicides, homicides). Relating the risk of death in epilepsy to familiar risks may facilitate discussions of seizure-related mortality with patients and families.

Maternal Mortality in Women with Epilepsy

LENUS (Irish Health Repository)

Holohan, M

2016-10-01

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

Epilepsy and art: Windows into complexity and comorbidities.

Science.gov (United States)

Schachter, Steven C

2016-04-01

The views of artists with epilepsy as expressed through their art provide unique opportunities to gain understanding of the experiences of living with epilepsy and related comorbidities. This paper provides a glimpse into art collected from an international group of artists with epilepsy, focusing on ictal and postictal experiences, psychiatric comorbidities, and social aspects of epilepsy. The art serves to enhance understanding among clinicians and neuroscientists of what it means to have epilepsy as well as to reduce misunderstanding and stigma among the public. It may also inspire neuroscientists to further explore the underlying neurological basis to the rich tapestries of ictal, postictal, and interictal experiences of persons with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". Copyright © 2015 Elsevier Inc. All rights reserved.

Epilepsy and Sleep Disorders: a Clinical Review | Sunmonu ...

African Journals Online (AJOL)

Patients with epilepsy (PWE) are at risk of developing sleep disorders and there is a complex inter-relationship between sleep disorders and epilepsy. Sleep disorders could be misdiagnosed as epilepsy and also worsen epilepsy. We searched Medline and Pubmed between 1962-2012, using the following search terms ...

Epilepsy and Intellectual Disability: Does Epilepsy Increase the Likelihood of Co-Morbid Psychopathology?

Science.gov (United States)

Arshad, Saadia; Winterhalder, Robert; Underwood, Lisa; Kelesidi, Katerina; Chaplin, Eddie; Kravariti, Eugenia; Anagnostopoulos, Dimitrios; Bouras, Nick; McCarthy, Jane; Tsakanikos, Elias

2011-01-01

Although epilepsy is particularly common among people with intellectual disability (ID) it remains unclear whether it is associated with an increased likelihood of co-morbid psychopathology. We therefore investigated rates of mental health problems and other clinical characteristics in patients with ID and epilepsy (N=156) as compared to patients…

BAD knockout provides metabolic seizure resistance in a genetic model of epilepsy with sudden unexplained death in epilepsy.

Science.gov (United States)

Foley, Jeannine; Burnham, Veronica; Tedoldi, Meghan; Danial, Nika N; Yellen, Gary

2018-01-01

Metabolic alteration, either through the ketogenic diet (KD) or by genetic alteration of the BAD protein, can produce seizure protection in acute chemoconvulsant models of epilepsy. To assess the seizure-protective role of knocking out (KO) the Bad gene in a chronic epilepsy model, we used the Kcna1 -/- model of epilepsy, which displays progressively increased seizure severity and recapitulates the early death seen in sudden unexplained death in epilepsy (SUDEP). Beginning on postnatal day 24 (P24), we continuously video monitored Kcna1 -/- and Kcna1 -/- Bad -/- double knockout mice to assess survival and seizure severity. We found that Kcna1 -/- Bad -/- mice outlived Kcna1 -/- mice by approximately 2 weeks. Kcna1 -/- Bad -/- mice also spent significantly less time in seizure than Kcna1 -/- mice on P24 and the day of death, showing that BadKO provides seizure resistance in a genetic model of chronic epilepsy. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Epilepsy and Education in developing countries: a survey of school teachers’ knowledge about epilepsy and their attitude towards students with epilepsy in Northwestern Nigeria

Science.gov (United States)

Owolabi, Lukman Femi; Shehu, Naziru Muhammad; Owolabi, Shakirah Desola

2014-01-01

Introduction Students living with epilepsy still find themselves confronted with social barriers that prevent them from academic achievements. Objective The aim of this study was to evaluate knowledge and attitudes of school teachers and to determine the factors associated with good knowledge and positive attitude among nursery, primary and secondary school teachers in Kano, Northwestern Nigeria. Methods A 20-item validated semi-structured questionnaire was self-administered to 200 teachers, selected through multistage sampling technique, in Kano, Northwestern Nigeria. Results The respondents comprised 124 (62%) males and 76(38%) females. Their age ranged between 17 and 55 with a median age of 26 years. All the respondents have heard or read about epilepsy, 13% have had students with epilepsy in their classes before, fifty one (25.5%) of them would object to having an epileptic child in their class. To one hundred and seventy one (85.5%) all seizures were convulsive, 81% of them admitted to not havingadequate knowledge of the initial procedure should their student develop epileptic seizure, 60% believed that epileptic student should be separated from non-epileptic students in the classroom and 44.5% of them preferred alternative medicine. Overall, fifty nine (29.5%) teachers had fair to good knowledge about epilepsy. and one hundred and sixty four (82%) had positive attitude to students with epilepsy. Statistically significant association was found between level of education attained by the respondents and good knowledge about epilepsy as well as between female gender and good attitude. However, none of the variables was statistically significant predictor of knowledge or attitude among the respondents. Conclusion There was low level of knowledge and misconceptions about epilepsy but fair attitude towards epileptic students in Northwestern Nigeria. Higher level of education of the teachers was significantly associated with good attitude. PMID:25489360

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Science.gov (United States)

Rodriguez-Revenga, L; Madrigal, I; Alkhalidi, L S; Armengol, L; González, E; Badenas, C; Estivill, X; Milà, M

2007-05-01

Norrie disease (ND) is an X-linked disorder, inherited as a recessive trait that, therefore, mostly affects males. The gene responsible for ND, called NDP, maps to the short arm of chromosome X (Xp11.4-p11.3). We report here an atypical case of ND, consisting of a patient harboring a large submicroscopic deletion affecting not only the NDP gene but also the MAOA, MAOB, and EFHC2 genes. Microarray comparative genomic hybridization (CGH) analysis showed that 11 consecutive bacterial artificial chromosome (BAC) clones, mapping around the NDP gene, were deleted. These clones span a region of about 1 Mb on Xp11.3. The deletion was ascertained by fluorescent in situ hybridization (FISH) analysis with different BAC clones located within the region. Clinical features of the proband include bilateral retinal detachment, microcephaly, severe psychomotor retardation without verbal language skills acquired, and epilepsy. The identification and molecular characterization of this case reinforces the idea of a new contiguous gene syndrome that would explain the complex phenotype shared by atypical ND patients.

Feasibility and acceptability of mobile epilepsy educational system (MEES) for people with epilepsy in Malaysia.

Science.gov (United States)

Lua, Pei Lin; Neni, Widiasmoro Selamat

2012-12-01

Telemedicine innovations, including short message service (SMS), have been used to address a range of health concerns in a variety of settings. Practical, safe, and cost-effective, this simple tool can also potentially improve patients' understanding toward their own diseases via knowledge enhancement. This study was designed to develop and assess the feasibility and acceptability of an SMS-based epilepsy educational program for epilepsy patients. This was a prospective randomized interventional study. Epilepsy outpatients from three general hospitals in East Coast Peninsular Malaysia received the SMS-based mobile epilepsy educational system (MEES) for a 3-month period. In total, 51 patients completed the study (median age, 25.0 years; 51.0% female; 92.2% Malay; 56.9% single; education level, 70.6% ≤SPM/Cambridge O-level equivalent; 25.5% supportive workers; monthly income, 58.8% ≤MYR 500.0/USD 158.5). Approximately 86.0% of the patients owned at least a mobile phone. The total cost of SMS delivery was economically affordable (MYR 3.08/USD 0.98 per patient). Overall, 74.0% agreed that MEES was either very or quite useful. It is encouraging that the majority of patients have offered positive comments and favorable opinions specifically toward epilepsy education (94.0%), drug-taking reminder (90.0%), and clinic appointment reminder (88.0%). It was also reported that 88.2% of the participants would recommend MEES to other people with epilepsy. The current study adds to the growing evidence suggesting that a greater investment in telemedicine programs involving SMS would be both feasible and well received by patients and could be a potentially valuable approach to increase access and effectiveness of epilepsy care.

Adult-onset photosensitivity: clinical significance and epilepsy syndromes including idiopathic (possibly genetic) photosensitive occipital epilepsy.

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Koutroumanidis, Michalis; Tsirka, Vasiliki; Panayiotopoulos, Chrysostomos

2015-09-01

To evaluate the clinical associations of adult-onset photosensitivity, we studied the clinical and EEG data of patients who were referred due to a possible first seizure and who had a photoparoxysmal response on their EEG. Patients with clinical evidence of photosensitivity before the age of 20 were excluded. Of a total of 30 patients, four had acute symptomatic seizures, two had vasovagal syncope, and 24 were diagnosed with epilepsy. Nine of the 24 patients had idiopathic (genetic) generalized epilepsies and predominantly generalized photoparoxysmal response, but also rare photically-induced seizures, while 15 had exclusively, or almost exclusively, reflex photically-induced occipital seizures with frequent secondary generalization and posterior photoparoxysmal response. Other important differences included a significantly older age at seizure onset and paucity of spontaneous interictal epileptic discharges in patients with photically-induced occipital seizures; only a quarter of these had occasional occipital spikes, in contrast to the idiopathic (genetic) generalized epilepsy patients with typically generalized epileptic discharges. On the other hand, both groups shared a positive family history of epilepsy, common seizure threshold modulators (such as tiredness and sleep deprivation), normal neurological examination and MRI, a generally benign course, and good response to valproic acid. We demonstrated that photosensitivity can first occur in adult life and manifest, either as idiopathic (possibly genetic) photosensitive occipital epilepsy with secondary generalization or as an EEG, and less often, a clinical/EEG feature of idiopathic (genetic) generalized epilepsies. Identification of idiopathic photosensitive occipital epilepsy fills a diagnostic gap in adult first-seizure epileptology and is clinically important because of its good response to antiepileptic drug treatment and fair prognosis.

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

Science.gov (United States)

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

1996-01-01

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

Gene expression profile in temporal lobe epilepsy

NARCIS (Netherlands)

Aronica, Eleonora; Gorter, Jan A.

2007-01-01

Epilepsy is one of the most common neurological disorders. Temporal lobe epilepsy (TLE) represents the most frequent epilepsy syndrome in adult patients with resistance to pharmacological treatment. In TLE, the origin of seizure activity typically involves the hippocampal formation, which displays

Gene expression profile in temporal lobe epilepsy.

NARCIS (Netherlands)

Aronica, E.M.A.; Gorter, J.A.

2007-01-01

Epilepsy is one of the most common neurological disorders. Temporal lobe epilepsy (TLE) represents the most frequent epilepsy syndrome in adult patients with resistance to pharmacological treatment. In TLE, the origin of seizure activity typically involves the hippocampal formation, which displays

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

Science.gov (United States)

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

2015-08-28

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

Interview: the National Institute of Neurological Diseases and Stroke/American Epilepsy Society benchmarks and research priorities for epilepsy research.

Science.gov (United States)

Lowenstein, Daniel H

2011-10-01

Daniel H Lowenstein, MD, is the Robert B and Ellinor Aird Professor and Vice-Chairman of Neurology, Director of the Epilepsy Center, and Director of Physician-Scientist Education and Training at the University of California, San Francisco (UCSF). He received his BA in Mathematics from the University of Colorado and MD from Harvard Medical School. He completed his neurology residency training at UCSF. Dr Lowenstein is a clinician-scientist who has studied both basic science and clinical aspects of epilepsy. In recent years, he has been an organizer of a large-scale, international effort to study the complex genetics of epilepsy, known as the Epilepsy Phenome/Genome Project. He has been actively involved in advancing the cause of epilepsy at the national and international level. Dr Lowenstein served as President of the American Epilepsy Society from 2003 to 2004 and the National Institute of Neurological Diseases and Stroke (NINDS) Advisory Council from 2000 to 2004, and has overseen the development of the NINDS Epilepsy Research Benchmarks since their inception in 2000.

Social-Psychiatric Aspects of Epilepsy

African Journals Online (AJOL)

TYDSKRIF. 1035. Social-Psychiatric Aspects of Epilepsy ... watersrand, as well as with the Department of Psychiatry, .... Is the response to therapy different in the three groups? 6. .... epilepsy in the occupational and the social spheres and.

Addressing the burden of epilepsy: Many unmet needs.

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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

Diagnosing and treating depression in epilepsy.

Science.gov (United States)

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

2017-01-01

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

Primer Part 1-The building blocks of epilepsy genetics.

Science.gov (United States)

Helbig, Ingo; Heinzen, Erin L; Mefford, Heather C

2016-06-01

This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

[Sleep disorders and epilepsy].

Science.gov (United States)

Aoki, Ryo; Ito, Hiroshi

2014-05-01

It has been reported that patients with epilepsy often have insomnia and/or daytime sleepiness; the symptomatologic features differ in seizure types. Not only the administration of anti-epileptics, but also inappropriate sleep hygiene cause daytime sleepiness. In subjective assessment of sleepiness, we need to pay attention if it can correctly assess or not. The prevalence of obstructive sleep apnea in patients with epilepsy is approximately 10-30%. Sleep apnea deteriorates the seizure control because of worsen sleep condition by sleep apnea, especially in elderly patients. Some researchers report that continuous positive airway pressure was effective for seizure control. Patients with epilepsy occasionally have REM sleep behavior disorder as comorbidity. Examination using polysomnography is required for differential diagnosis.

Dendritic ion channelopathy in acquired epilepsy

Science.gov (United States)

Poolos, Nicholas P.; Johnston, Daniel

2012-01-01

Summary Ion channel dysfunction or “channelopathy” is a proven cause of epilepsy in the relatively uncommon genetic epilepsies with Mendelian inheritance. But numerous examples of acquired channelopathy in experimental animal models of epilepsy following brain injury have also been demonstrated. Our understanding of channelopathy has grown due to advances in electrophysiology techniques that have allowed the study of ion channels in the dendrites of pyramidal neurons in cortex and hippocampus. The apical dendrites of pyramidal neurons comprise the vast majority of neuronal surface membrane area, and thus the majority of the neuronal ion channel population. Investigation of dendritic ion channels has demonstrated remarkable plasticity in ion channel localization and biophysical properties in epilepsy, many of which produce hyperexcitability and may contribute to the development and maintenance of the epileptic state. Here we review recent advances in dendritic physiology and cell biology, and their relevance to epilepsy. PMID:23216577

Anesthesia-induced epilepsy: causes and treatment.

Science.gov (United States)

Zhao, Xiaojuan; Wang, Xuefeng

2014-09-01

Epilepsy is a type of chronic brain disease that results from an abnormally high synchronization of neuronal discharge. The typical clinical features of epilepsy are paroxysms and transient and stereotyped brain dysfunction. Many cases of epileptic seizures occurring during anesthesia have been reportedx. Recently, risk assessment of epileptic seizures during surgery and anesthesia has gained increasing attention. In this review, we systematically summarize the influence of anesthesia on epileptic seizures; the types, durations and frequencies of seizures related to anesthesia; and the epidemiology, prevention, treatment and prognosis of epilepsy. We also explore the possible mechanism of epilepsy and provide guidance for anesthesia during surgeries.

The experience of living with adult-onset epilepsy.

Science.gov (United States)

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

2017-08-01

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

Genetic Forms of Epilepsies and other Paroxysmal Disorders

Science.gov (United States)

Olson, Heather E.; Poduri, Annapurna; Pearl, Phillip L.

2016-01-01

Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics. PMID:25192505

Autistic Characteristics in Adults with Epilepsy

OpenAIRE

Wakeford, SallyAnn Rose

2012-01-01

The prevalence of autism spectrum disorders [ASD] in epilepsy is approximately 20%-32%, with previous research reporting high rates of under-diagnosis of ASD in epilepsy. Current psychological assessments were adapted to provide epilepsy-specific measures of behaviour, which increased validity by addressing specific methodological problems highlighted by several researchers. The initial experiments provided a comprehensive investigation of autistic traits and characteristics in a heterogeneou...

Diagnosis of Epilepsy and Related Episodic Disorders.

Science.gov (United States)

St Louis, Erik K; Cascino, Gregory D

2016-02-01

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

Language recovery after epilepsy surgery of the Broca's area

Directory of Open Access Journals (Sweden)

Lilit Mnatsakanyan

Full Text Available Epilepsy surgery is indicated in select patients with drug-resistant focal epilepsy. Seizure freedom or significant reduction of seizure burden without risking new neurological deficits is the expected goal of epilepsy surgery. Typically, when the seizure onset zone overlaps with eloquent cortex, patients are excluded from surgery.We present a patient with drug-resistant frontal lobe epilepsy who underwent successful surgery with resection of Broca's area, primarily involving the pars triangularis (BA 45. We report transient expressive aphasia followed by recovery of speech. This case provides new insights into adult neuroplasticity of the language network. Keywords: Epilepsy surgery, Eloquent cortex, Language and epilepsy, Refractory epilepsy, Electrocorticography

Seizures and epilepsy in elderly patients of an urban area of Iran: clinical manifestation, differential diagnosis, etiology, and epilepsy subtypes.

Science.gov (United States)

Tabatabaei, Sayed Shahaboddin; Delbari, Ahmad; Salman-Roghani, Reza; Shahgholi, Leili; Fadayevatan, Reza; Mokhber, Naghmeh; Lokk, Johan

2013-08-01

The incidences of seizures and epilepsy in the population show a peak after 60 years of age. Due to the lack of reported clinical aspects of seizure and epilepsy in the older patients in our region in Iran, this study was conducted to describe the clinical manifestation, etiology, differential diagnosis, and epilepsy subtypes of epilepsy and seizure. A cross-sectional retrospective study was performed on all consecutively elderly seizure and epilepsy patients, referred to the Epilepsy Association in the city of Qom, Iran over a 10-year period. A total of 466 patients aged >60 years were admitted. 31 % of the patients had epilepsy or seizure and 69 % of them had non-epileptic events. The most prevalent differential diagnoses in the beginning were syncope and cardiovascular disorders. The most frequent clinical symptom of epilepsy was generalized tonic-clonic seizures (75 %). The most common cause of seizure was systemic metabolic disorder (27 %). In epileptic elderly patients, no cause was ascertained for 38 % and the most frequently observed pathological factors were cerebrovascular diseases, which accounted for 24 %. The most common type of epileptic seizure was generalized epileptic seizures (75 %). 10 % of elderly epileptic patients suffered from status epilepticus, which was primarily caused by anoxia. Despite the rising rate and potentially profound physical and psychosocial effects of seizures and epilepsy, these disorders have received surprisingly little research focus and attention in Iran. Referring older patients to a specialist or a specialist epilepsy center allows speedy assessment, appropriate investigation and treatment, and less likely to miss the diagnosis.

Psychosocial factors associated with stigma in adults with epilepsy.

Science.gov (United States)

Smith, Gigi; Ferguson, Pamela L; Saunders, Lee L; Wagner, Janelle L; Wannamaker, Braxton B; Selassie, Anbesaw W

2009-11-01

Living Well with Epilepsy II called for further attention to stigma and its impact on people with epilepsy. In response, the South Carolina Health Outcomes Project on Epilepsy (SC HOPE) is examining the relationship between socioeconomic status, epilepsy severity, health care utilization, and quality of life in persons diagnosed with epilepsy. The current analysis quantifies perceived stigma reported by adults with epilepsy in relation to demographic, seizure-related, health, and psychosocial factors. It was found that reported levels of stigma were associated with interactions of seizure worry and employment status, self-efficacy and social support, and quality care and age at seizure onset. This information may be used to target and develop evidence-based interventions for adults with epilepsy at high risk for perceived stigma, as well as to inform epilepsy research in self-management.

Juvenile Court Statistics - 1972.

Science.gov (United States)

Office of Youth Development (DHEW), Washington, DC.

This report is a statistical study of juvenile court cases in 1972. The data demonstrates how the court is frequently utilized in dealing with juvenile delinquency by the police as well as by other community agencies and parents. Excluded from this report are the ordinary traffic cases handled by juvenile court. The data indicate that: (1) in…

Juvenile Court Statistics, 1974.

Science.gov (United States)

Corbett, Jacqueline; Vereb, Thomas S.

This report presents information on juvenile court processing of youth in the U.S. during 1974. It is based on data gathered under the National Juvenile Court Statistical Reporting System. Findings can be summarized as follows: (1) 1,252,700 juvenile delinquency cases, excluding traffic offenses, were handled by courts in the U.S. in 1974; (2) the…

Physical activity and epilepsy: proven and predicted benefits.

Science.gov (United States)

Arida, Ricardo M; Cavalheiro, Esper A; da Silva, Antonio C; Scorza, Fulvio A

2008-01-01

Epilepsy is a common disease found in 2% of the population, affecting people from all ages. Unfortunately, persons with epilepsy have previously been discouraged from participation in physical activity and sports for fear of inducing seizures or increasing seizure frequency. Despite a shift in medical recommendations toward encouraging rather than restricting participation, the stigma remains and persons with epilepsy continue to be less active than the general population. For this purpose, clinical and experimental studies have analysed the effect of physical exercise on epilepsy. Although there are rare cases of exercise-induced seizures, studies have shown that physical activity can decrease seizure frequency, as well as lead to improved cardiovascular and psychological health in people with epilepsy. The majority of physical activities or sports are safe for people with epilepsy to participate in with special attention to adequate seizure control, close monitoring of medications, and preparation of family or trainers. The evidence shows that patients with good seizure control can participate in both contact and non-contact sports without harmfully affecting seizure frequency. This article reviews the risks and benefits of physical activity in people with epilepsy, discusses sports in which persons with epilepsy may participate, and describes the positive effect of physical exercise in experimental models of epilepsy.

Global Health: Epilepsy.

Science.gov (United States)

Ali, Amza

2018-04-01

Epilepsy is a frequently misunderstood and highly stigmatized condition. Major treatment gaps exist across the world, most so in areas of financial constraint. Classification permits the best approaches to treatment and to ascertaining prognosis. The International League Against Epilepsy's new classification system emphasizes clinical aspects and utilizes all available resources to determine whether it is a focal or generalized epilepsy. The most important tools are a careful history, clinical examination, electroencephalography, and appropriate neuroimaging. Inadequate, delayed, and incomplete evaluation may lead to misdiagnosis and costly mismanagement. Treatment is generally pharmacological, with approximately 20 to 30% of patients eventually proving refractory to medications and thus becoming potential surgical candidates. The type of epilepsy, age, gender, comorbidities, drug interactions, and drug cost are important factors in choosing an antiepileptic drug (AED). The teratogenic potential of some AEDs, weight gain, and menstrual hormone-related issues are important considerations in women. The impact of AEDs on bone health is critical in all age groups, particularly in the elderly. Psychiatric problems, mostly depression and anxiety, can have a great impact on seizure control and overall quality of life. Finally, effective partnerships and collaborations can bring resources, both human and financial, to regions that would otherwise find it impossible to effect change on their own. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

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

2017-04-01

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

Shorter epilepsy duration is associated with better seizure outcome in temporal lobe epilepsy surgery

Directory of Open Access Journals (Sweden)

Lucas Crociati Meguins

2015-03-01

Full Text Available Objective To investigate the influence of patient’s age and seizure onset on surgical outcome of temporal lobe epilepsy (TLE. Method A retrospective observational investigation performed from a cohort of patients from 2000 to 2012. Results A total of 229 patients were included. One-hundred and eleven of 179 patients (62% were classified as Engel I in the group with < 50 years old, whereas 33 of 50 (66% in the group with ≥ 50 years old group (p = 0.82. From those Engel I, 88 (61% reported epilepsy duration inferior to 10 years and 56 (39% superior to 10 years (p < 0.01. From the total of patients not seizure free, 36 (42% reported epilepsy duration inferior to 10 years and 49 (58% superior to 10 years (p < 0.01. Conclusion Patients with shorter duration of epilepsy before surgery had better postoperative seizure control than patients with longer duration of seizures.

Do people with epilepsy have a different lifestyle?

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Aguirre, Clara; Quintas, Sonia; Ruiz-Tornero, Ana María; Alemán, Guadalupe; Gago-Veiga, Ana Betariz; de Toledo, María; Vivancos, Jose

2017-09-01

Epilepsy is one of the most common neurological diseases. Its high prevalence, economic relevance and impact on daily life make it crucial that we study this condition in further detail. Our study seeks to investigate whether the lifestyle of people diagnosed with epilepsy is different to that of people without epilepsy, in order to better understand our patients. We designed and delivered a questionnaire about quality of life and daily habits to patients from our hospital's Epilepsy Unit. We also delivered the questionnaire to a control group with similar demographic characteristics. Lifestyle differences between patients and control group members were analyzed. Patients were further divided according to the type of epilepsy, time since diagnosis, seizure frequency and pharmacotherapy. A total of 278 people were interviewed (85 patients, 193 controls). There was no difference in educational level, marital status and healthy habits (sports, reading and diet) between the groups. However, patients with epilepsy were more often unemployed (pepilepsy. In terms of the type of epilepsy, patients with focal epilepsy exercised more than those with generalized epilepsy; no other statistically significant differences were found between the individuals studied. Epilepsy diagnosis does not seem to negatively alter the daily life of patients; in fact, many adopt a healthier lifestyle after diagnosis. The risk of antidepressant/anxiolytic intake is, however, higher, which could reflect the impact this chronic condition still has at a social level. Copyright © 2017 Elsevier Inc. All rights reserved.

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

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Packer, Rowena M A; Volk, Holger A

2015-09-26

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

THE STUDY OF FEATURES OF GUILT OF JUVENILE OFFENDERS IN THE CONTEXT OF JUVENILE JUSTICE

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Natalija Vladimirovna Galkina

2015-08-01

Full Text Available The article is devoted to the results of empirical studies of the experiences of guilt of juvenile offenders in the context of juvenile justice where a minor appears as the subject of legal relations. Restorative approach of juvenile justice is based on an admission of guilt to the victim. In connection with it, the research of features of the guilt of minors who have committed an offence and the conditions for the development of the subjectivity will enhance understanding of the possibilities of restorative juvenile justice system in the prevention of juvenile delinquency.Thus, the results of empirical research presented in the article are important for determining of the psychological bases of realization of rehabilitation programs in the context of juvenile justice. In particular, the results are important for the organization and conduct of psychological work to overcome the psychological barriers in the behavior of juveniles having inherently maladaptive guilt and destructive psychological defense mechanisms.

Juvenile Justice in Mexico

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Martha Frías Armenta

2014-08-01

Full Text Available The first tribunal in Mexico was established in the central state of San Luis Potosi in 1926. The Law Regarding Social Prevention and Juvenile Delinquency for the Federal District and Mexican territories was promulgated in 1928. In 2005, Article 18 of the Mexican Constitution was modified to establish a comprehensive system (“Sistema Integral de justicia” in Spanish of justice for juveniles between 12 and 18 years old who had committed a crime punishable under criminal law. Its objective was to guarantee juveniles all the due process rights established for adults, in addition to the special ones recognized for minors. The constitutional reform also provides a framework that includes special tribunals as well as alternative justice options for juveniles. With these reforms, institutionalization of minors was to be considered an extreme measure applicable only to felonies and to juveniles older than 14. In 2006, all states within the Mexican federation enacted the “Law of justice for adolescents”. This system, at both the federal and state levels, formalizes a new global paradigm with regard to the triangular relationship between children, the State and the Law. It recognizes that children are also bearers of the inherent human rights recognized for all individuals, instead of simply objects in need of protection. However, despite formally aligning Mexican juvenile justice law with the Convention on the Rights of the Child (CRC, issues of actual substantive rights remained and new ones have appeared. For example, juveniles younger than 14 who have not committed a felony are released from institutions without any rehabilitation or treatment options, and alternative forms of justice were included without evaluating their possibilities of application or their conditions for success. In addition, the economic status of most juvenile detainees continues to be one of the most important determining factors in the administration of justice

Epilepsy and restless legs syndrome.

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

2017-03-01

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

Submikroskopiske kromosomforandringer disponerer til epilepsi

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre; Hjalgrim, Helle

2011-01-01

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

Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW

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Jorge L. Granadillo

2014-01-01

Full Text Available We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic–myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our proband had an earlier onset and more severe phenotype than the first reported patient harboring the same mutation. We discuss her clinical presentation and compare it with the only previously published case.

Epilepsy

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... a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle ...

Public awareness and attitudes towards epilepsy in Tehran, Iran.

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Ghanean, Helia; Nojomi, Marzieh; Jacobsson, Lars

2013-12-05

Epilepsy is a prototypical, stigmatised disorder. Numerous studies have been conducted regarding the public perception of epilepsy, but they are primarily from high-income western countries; few studies have taken place in low- to middle-income countries with a traditional culture and a religious orientation. The public knowledge and attitudes towards epilepsy in Tehran, Iran, is studied. A survey of 800 subjects ranging from 18 to 85 years was randomly chosen from households in Tehran in 2009. The questionnaire used was based on the Caveness and Gallup's studies conducted in the United States in 1949 and it has been used in numerous similar studies all over the world. The mean age of the participants was 37.5 years and 46.7% were female. Pearson's Chi-squared test was used for subgroup analyses. The majority of subjects cited brain disorders as a cause of epilepsy, while 17% indicated the will of God as the cause. Most individuals were willing to work with a person with epilepsy, allow their children to play with a child with epilepsy, and allow people with epilepsy to use public transportation (78-82%). However, only 28% were willing to accept the marriage of a family member to someone with epilepsy. The knowledge and attitudes towards epilepsy are similar to those in Europe, with the exception of a much lower acceptance regarding marriage to a person with epilepsy. However, the low acceptance for marrying someone with epilepsy reveals the remaining misconceptions about the nature of epilepsy in Iran, despite the high educational level in the studied population. Therefore, informational efforts must be employed to change the perception of epilepsy.

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

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

2015-12-01

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

Perceived epilepsy stigma mediates relationships between personality and social well-being in a diverse epilepsy population.

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Margolis, Seth A; Nakhutina, Luba; Schaffer, Sarah G; Grant, Arthur C; Gonzalez, Jeffrey S

2018-01-01

Perceived epilepsy stigma and reduced social well-being are prevalent sources of distress in people with epilepsy (PWE). Yet, research on patient-level correlates of these difficulties is lacking, especially among underserved groups. Racially/ethnically diverse adults with intractable seizures (N=60, 62% female; 79% Black, 20% Hispanic/Latino, 8% White) completed validated measures of personality (NEO Five Factor Inventory, NEO-FFI-3), perceived epilepsy stigma (Epilepsy Stigma Scale, ESS), and quality of life (Quality of Life Inventory in Epilepsy, QOLIE-89). Controlling for covariates, ordinary least-squares (OLS) regression evaluated the total, direct, and indirect effects of NEO-FFI-3 neuroticism and extraversion scores on epilepsy-related social well-being (i.e., combination of QOLIE-89 social isolation and work/driving/social function subscales, α=0.87), mediated through perceived stigma. In separate models, higher levels of neuroticism (N) and lower levels of extraversion (E) were significantly and independently associated with greater perceived stigma (N path a=0.71, p=0.005; E path a=-1.10, pStigma, in turn, was significantly and independently associated with poorer social well-being (N path b=0.23, psocial well-being through their respective associations with perceived stigma (N path ab=-0.16, 95% CIs [-0.347, -0.044]; E path ab=0.25, 95% CIs [0.076, 0.493]). Higher neuroticism and lower extraversion covaried with stigma beliefs, and these may be markers of poor social outcomes in PWE. Mediation models suggest that targeting epilepsy stigma beliefs may be a particularly useful component to incorporate when developing interventions aimed at promoting social well-being in diverse PWE. Copyright © 2017 Elsevier Inc. All rights reserved.

Juvenile mammary papillomatosis; Papilomatosis juvenil mamaria

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Alvarez, M.; Jimenez, A. V. [Hospital Reina Sofia. Cordoba (Spain)

2001-07-01

Juvenile mammary papillomatosis is a benign proliferative disease of young patients, generally under 30 years of age. The most frequent clinical presentation is the existence of an elastic and mobile lymph node of the breast. Anatomopathologically, it is characterized because it presents ductal epithelial hyperplasia, sometimes with marked atypia, and there are numerous cysts having different sizes among the findings. It has been associated with an increase in the incidence of breast cancer, both in the patient herself as well as her family. We review the literature on the subject and present the mammographic and ultrasonographic findings of a 22 year old woman diagnosed of juvenile mammary papillomatosis. (Author) 12 refs.

Pathology of Visual Memory in Patients with Epilepsy

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Reza Pourhosein

2016-12-01

Full Text Available Background: Epileptic seizures have destructive effects on the brain, because they intervene in healthy and normal brain processes, and create interference at different stages of memory and cause malfunction in its performance and function, especially in the early years of life. The purpose of this study was to investigate memory as one of the important areas of cognition in patients with epilepsy.Methods: In this causal-comparative study, the subjects consisted of 52 children of 8 to 14 years of age with epilepsy. Among them, 15, 16, and 15 patients had parietal lobe epilepsy, temporal lobe epilepsy, and frontal lobe epilepsy, respectively. The participants were selected among the patients referring to the clinic of a neurologist. Rey-Osterrieth complex figure (ROCF test was used to assess visual memory.Results: The visual memory scores in the epilepsy group were lower than the healthy group and the difference between the two groups was significant (t = 33.76, df = 103, P < 0.001. No significant difference was obtained between the three epilepsy groups in terms of visual memory scores (f = 1.6, df = 2, P < 0.212. In the present research, no significant difference was observed in visual memory between the three epilepsy groups.Conclusion: It can be concluded that patients with epilepsy have impaired visual memory.

Sleep problems in pediatric epilepsy and ADHD: The impact of comorbidity.

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Ekinci, Ozalp; Okuyaz, Çetin; Gunes, Serkan; Ekinci, Nuran; Kalınlı, Merve; Tan, Muhammet Emin; Teke, Halenur; Direk, Meltem Çobanoğulları; Erdoğan, Semra

2017-06-01

Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in pediatric epilepsy. Although sleep problems are commonly reported in both children with primary ADHD and epilepsy, those with epilepsy-ADHD comorbidity have not been well studied. This study aimed to compare sleep problems among three groups of children: 1) children with epilepsy, 2) children with epilepsy and ADHD (epilepsy-ADHD), and 3) children with primary ADHD. 53 children with epilepsy, 35 children with epilepsy-ADHD, and 52 children with primary ADHD completed the Children's Sleep Habits Questionnaire (CSHQ). Neurology clinic charts were reviewed for the epilepsy-related variables. ADHD subtypes were diagnosed according to the DSM-IV. Children with epilepsy-ADHD had the highest CSHQ total scores, while children with primary ADHD had higher scores than those with epilepsy. Besides the total score, epilepsy-ADHD group differed from the primary ADHD and epilepsy groups with higher CSHQ subscores on sleep onset delay and sleep anxiety. The frequency of moderate-severe sleep problems (CSHQ>56) was 62.9% in children with epilepsy-ADHD, while it was 40.4% and 26.4% in children with primary ADHD and epilepsy, respectively. CSHQ total scores were not different between ADHD subtypes in both children with epilepsy-ADHD and those with primary ADHD. None of the epilepsy-related variables were found to be associated with CSHQ scores. Epilepsy-ADHD is associated with a significantly poor sleep quality which is beyond that of primary ADHD and epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

Electroencephalography in dogs with epilepsy

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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....

Epilepsy and Comorbid Mental Retardation

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J Gordon Millichap

2007-08-01

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

Epilepsy, Cognition, and Behavior: The clinical picture

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Berg, Anne T.

2010-01-01

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

Epilepsy as a systemic condition: Link with somatic comorbidities.

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Novy, J; Bell, G S; Peacock, J L; Sisodiya, S M; Sander, J W

2017-10-01

People with epilepsy have more concomitant medical conditions than the general population; these comorbidities play an important role in premature mortality. We sought to generate explanatory hypotheses about the co-occurrence of somatic comorbidities and epilepsy, avoiding causal and treatment-resultant biases. We collected clinical, demographic and somatic comorbidity data for 2016 consecutive adults with epilepsy undergoing assessment at a tertiary centre and in 1278 people with epilepsy in the community. Underlying causes of epilepsy were not classed as comorbidities. Somatic comorbidities were more frequent in the referral centre (49%) where people more frequently had active epilepsy than in the community (36%). Consistent risk factors for comorbidities were found in both cohorts. Using multivariable ordinal regression adjusted for age, longer epilepsy duration and an underlying brain lesion were independently associated with a smaller burden of somatic conditions. The treatment burden, measured by the number of drugs to which people were exposed, was not an independent predictor. Shorter epilepsy duration was a predictor for conditions that conceivably harbour significant mortality risks. Somatic comorbidities do not occur randomly in relation to epilepsy; having more severe epilepsy seems to be a risk factor. Independently from age, the early period after epilepsy onset appears to be at particular risk, although it is not clear whether this relates to an early mortality or to a later decrease in the burden of comorbidities. These results suggest that, for some people, epilepsy should be considered a systemic condition not limited to the CNS. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

CONCEPTUALIZING SPECIALIZED PSYCHOSOCIAL CONSULTING FOR PERSONS WITH EPILEPSY

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Polina Šedienė

2016-09-01

Full Text Available The goal of the article is to describe and to reason conception of specialized psychosocial consulting, revealing definition of epilepsy as disease in classical sociological and existential theories and from rights of disabled person’s perspectives. Restriction of social life and possibilities for disabled, person’s with epilepsy and social worker’s interactions, which have importance for development of disabled people participation in social life, are analysed in the article. In order to achieve the goal various methods are used: scientific literature review, reflection of social worker who works with persons with epilepsy, interviews with the clients of Psychosocial consulting centre for persons with epilepsy in 2015, groups discussions (2013, 2016, analysis of conception of Psychosocial consulting centre for persons with epilepsy. 139SPECIALIZUOTO PSICHOSOCIALINIO KONSULTAVIMO EPILEPSIJA S ERGANTIEMS ASMENIMS KONCEPCIJOS PAGRINDIMAS Based on classical sociological theories, people with disease and society members attach such meanings to the illness, which support and enforce stigmatized attitude and behaviour toward person with disease, strengthens negative social aspects of epilepsy, which restricts present and new developed social interactions, full engagement into society. Historical cultural context of epilepsy presupposes attitude that epileptic seizure is “an awful” event, encounter with death, which reminds finality of human, event which causes fear, panic, rejection of surrenders and which restrains social life of person with epilepsy, his or her selfperception. Therefore people with epilepsy very often confine themselves in sick person role, isolate themselves from society, and become dependent on others. Positive interaction between social worker and person with epilepsy during epileptic seizure strengthens understanding of possibilities of person with epilepsy. Specialised psychosocial consulting services for people with

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

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

2016-04-01

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

Genetic Causal Attribution of Epilepsy and its Implications for Felt Stigma

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

2015-01-01

Summary Objective Research in other disorders suggests that genetic causal attribution of epilepsy might be associated with increased stigma. We investigated this hypothesis in a unique sample of families containing multiple individuals with epilepsy. Methods 181 people with epilepsy and 178 biological relatives without epilepsy completed a self-administered survey. In people with epilepsy, felt stigma was assessed through the Epilepsy Stigma Scale (ESS), scored 1 to 7 with higher scores indicating more stigma and >4 indicating some felt stigma. Felt stigma related to having epilepsy in the family was assessed through the Family Epilepsy Stigma Scale (FESS), created by replacing “epilepsy” with “epilepsy in my family” in each ESS item. Genetic attribution was assessed through participants’ perceptions of the (1) role of genetics in causing epilepsy in the family, (2) chance they had an epilepsy-related mutation, and (3) (in people with epilepsy) influence of genetics in causing their epilepsy. Results Among people with epilepsy, 22% met criteria for felt stigma (ESS score >4). Scores were increased among individuals who were aged ≥60 years, were unemployed, reported epilepsy-related discrimination, or had seizures within the last year or >100 seizures in their lifetime. Adjusting for other variables, ESS scores in people with epilepsy were significantly higher among those who perceived genetics played a “medium” or “big” role in causing epilepsy in the family than in others (3.4 vs. 2.7, p=0.025). Only 4% of relatives without epilepsy had felt stigma. Scores in relatives were unrelated to genetic attribution. Significance In these unusual families, predictors of felt stigma in individuals with epilepsy are similar to those in other studies, and stigma levels are low in relatives without epilepsy. Felt stigma may be increased in people with epilepsy who believe epilepsy in the family has a genetic cause, emphasizing the need for sensitive

WONOEP appraisal: Biomarkers of epilepsy-associated comorbidities.

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Ravizza, Teresa; Onat, Filiz Y; Brooks-Kayal, Amy R; Depaulis, Antoine; Galanopoulou, Aristea S; Mazarati, Andrey; Numis, Adam L; Sankar, Raman; Friedman, Alon

2017-03-01

Neurologic and psychiatric comorbidities are common in patients with epilepsy. Diagnostic, predictive, and pharmacodynamic biomarkers of such comorbidities do not exist. They may share pathogenetic mechanisms with epileptogenesis/ictogenesis, and as such are an unmet clinical need. The objectives of the subgroup on biomarkers of comorbidities at the XIII Workshop on the Neurobiology of Epilepsy (WONOEP) were to present the state-of-the-art recent research findings in the field that highlighting potential biomarkers for comorbidities in epilepsy. We review recent progress in the field, including molecular, imaging, and genetic biomarkers of comorbidities as discussed during the WONOEP meeting on August 31-September 4, 2015, in Heybeliada Island (Istanbul, Turkey). We further highlight new directions and concepts from studies on comorbidities and potential new biomarkers for the prediction, diagnosis, and treatment of epilepsy-associated comorbidities. The activation of various molecular signaling pathways such as the "Janus Kinase/Signal Transducer and Activator of Transcription," "mammalian Target of Rapamycin," and oxidative stress have been shown to correlate with the presence and severity of subsequent cognitive abnormalities. Furthermore, dysfunction in serotonergic transmission, hyperactivity of the hypothalamic-pituitary-adrenocortical axis, the role of the inflammatory cytokines, and the contributions of genetic factors have all recently been regarded as relevant for understanding epilepsy-associated depression and cognitive deficits. Recent evidence supports the utility of imaging studies as potential biomarkers. The role of such biomarker may be far beyond the diagnosis of comorbidities, as accumulating clinical data indicate that comorbidities can predict epilepsy outcomes. Future research is required to reveal whether molecular changes in specific signaling pathways or advanced imaging techniques could be detected in the clinical settings and correlate

Partial Epilepsy with Auditory Features

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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.

Diagnosis and Prognosis of Seizures and Epilepsy in Childhood: Dutch study of epilepsy in childhood

NARCIS (Netherlands)

H. Stroink (Hans)

2008-01-01

textabstractMany people suffer from one or more epileptic seizures during life, but not all these people have epilepsy. Moreover, epilepsy is not one disease or syndrome, but a collection of different disorders, which have in common the repeated occurrence of unprovoked epileptic seizures during

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

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

2018-06-19

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

Neurobehavioral comorbidities of epilepsy: Role of inflammation.

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Mazarati, Andrey M; Lewis, Megan L; Pittman, Quentin J

2017-07-01

Epilepsy is associated with a high incidence of comorbid neurologic and psychiatric disorders. This review focuses on the association of epilepsy with autism spectrum disorder (ASD) and depression. There is high concordance of these behavioral pathologies with epilepsy. We review data that unambiguously reveal that epilepsy, ASD, and depression are associated with elevated brain inflammatory markers and that these may interact with serotoninergic pathways. Interference with inflammatory pathways or actions can reduce the severity of seizures, depression, and ASD-like behavior. Inflammation in the brain can be induced by seizure activity as well as by behavioral, environmental, and physiologic stressors. Furthermore, induction of inflammation at an early time point during gestation and in early neonatal life can precipitate both an ASD-like phenotype as well as a more excitable brain. It appears likely that priming of the brain due to early inflammation could provide a means by which subsequent inflammatory processes associated with epilepsy, ASD, and depression may lead to comorbidity. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Epilepsy surgery in children: outcomes and complications.

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Kim, Seung-Ki; Wang, Kyu-Chang; Hwang, Yong-Seung; Kim, Ki Joong; Chae, Jong Hee; Kim, In-One; Cho, Byung-Kyu

2008-04-01

Ideal epilepsy surgery would eliminate seizures without causing any functional deficits. The aim of the present study was to assess seizure outcomes and complications after epilepsy surgery in children with intractable epilepsy. Data obtained in 134 children (75 boys and 59 girls) age 17 years or younger who underwent epilepsy surgery at Seoul National University Children's Hospital between 1993 and 2005 were retrospectively reviewed. Epilepsy surgery included temporal resection (59 cases), extratemporal resection (56 cases), functional hemispherectomy (7 cases), callosotomy (9 cases), multiple subpial transection (1 case), and disconnection of a hamartoma (2 cases). The mean follow-up duration was 62.3 months (range 12-168 months). The overall seizure-free rate was 69% (93 of 134 cases). The seizure-free rate was significantly higher in children who underwent temporal resection than in those in whom extratemporal resection was performed (88 vs 55%, p surgery is an effective and safe therapeutic modality in childhood. In children with extratemporal epilepsy, more careful interpretation of clinical and investigative data is needed to achieve favorable seizure outcome.

Epilepsy through the ages: An artistic point of view.

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Ladino, Lady Diana; Rizvi, Syed; Téllez-Zenteno, Jose Francisco

2016-04-01

The historical allure of epilepsy transcends academic circles and serves as fascinating critique of the state of the times-its values, judgments, mythos, and people. Immortalized and laid bare in artistic renderings of epilepsy are societal truths, at times both disparately grandiose and grotesque. During the middle ages and Renaissance, the European discourse on epilepsy assumed religious fervor. Epilepsy was considered a demonic machination and its cure an act of divine intercession. A similar theme is found in the artistic depiction of epilepsy from the Inca and Aztec civilizations of that time. After the 19th century drew to a close, the ascendency of empiricism coincided with waning creative interest in epilepsy, with few paintings or pieces to capture insightful perspectives on the illness. In this paper, we review the relationship between art and epilepsy and present two contemporary paintings that convey current western perceptions. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". Copyright © 2016 Elsevier Inc. All rights reserved.

Common comorbidity of epilepsy: a review of new progress

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YANG Xue

2012-10-01

Full Text Available A range of medical and neurologic disorders occurs more frequently in people with epilepsy than in the general population and constitutes somatic comorbidity. Common examples include migraine, depression, schizophrenia, attention-deficit hyperactivity disorder (ADHD, sleep disorder, cognitive damage, developmental abnormality and so on. There are more interesting clinical features in some special types of patients with benign epilepsy of childhood with centrotemporal spikes (BECT, temporal epilepsy and mitochondrial encephalomyopathy. The association between epilepsy and other conditions can be due to a variety of interacting genetic, biologic structural, functional, pharmacological and environmental factors. Co-existence of other disorders in a person with epilepsy can complicate diagnosis, induce adverse prognostic implications and attenuate health?related quality of life. Therefore, recognition and management of comorbidity of epilepsy may facilitate the treatment of epilepsy. In this article, we review recent pathophysiologic and clinical studies to elucidate the etiology, mechanisms, clinical characteristics, differential diagnosis and treatment of common comorbidity of epilepsy.

Validation of epilepsy diagnoses in the Danish National Hospital Register

DEFF Research Database (Denmark)

Christensen, Jakob; Vestergaard, Mogens; Olsen, Jørn

2007-01-01

PURPOSE: To validate the diagnosis of epilepsy in the Danish National Hospital Register. METHODS: We randomly selected 200 patients registered with epilepsy in the Danish National Hospital Register between 1977 and 2002 and validated the diagnosis according to the guidelines developed...... by the International League Against Epilepsy. RESULTS: We reviewed the medical records of 188 (94%) persons from 57 departments at 41 hospitals. The epilepsy diagnoses were confirmed in 153 patients, providing a positive predictive value for epilepsy of 81% (95% confidence interval (95% CI): 75-87%). Among the 35...... for syndrome classification was 60% (95% CI: 44-74%) for epilepsy with complex focal seizures and 35% (95% CI: 22-51%) for primary generalized epilepsy. CONCLUSION: The validity of the epilepsy diagnoses in the Danish National Hospital Register has a moderate to high positive predictive value for epilepsy...

SPECT and PET imaging in epilepsy

International Nuclear Information System (INIS)

Semah, F.

2007-01-01

Positron emission tomography (PET) and single photon emission computed tomography (SPECT) imaging are very useful for the management of patients with medically refractory partial epilepsy. Presurgical evaluation of patients with medically refractory partial epilepsy often included PET imaging using FDG. The use of SPECT in these patients adds some more information and gives the clinicians the possibility of having ictal imaging. Furthermore, PET and SPECT imaging are performed to better understand the pathophysiology of epilepsy. (authors)

Assessment of awareness about epilepsy amongst students of the volgograd state medical university and estimation of epilepsy stigmatization

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O. V. Belyaev

2017-01-01

Full Text Available Background. Epilepsy remains one of the most stigmatized diseases; patients still experience multiple problems with education, employment, social functioning and family creation. Reducing the stigma will help to increase socialization of epileptic patients, hence, improving their quality of life.Objective: to assess the degree of awareness about epilepsy amongst junior and senior students of the Volgograd State Medical University (VolSMU and to estimate the level of stigmatization of epilepsy. Materials and methods. For the purpose of the study, we developed a questionnaire containing 12 questions. A total of 508 students of medical and pediatric faculties of the VolSMU participated in the anonymous survey. Statistical data analysis was performed using Microsoft Excel. Conclusions. Despite the increasing awareness about epilepsy and first aid for this category of patients, senior students of the VolSMU still have erroneous social stereotypes about patients with epilepsy. 

Tilt table testing in patients with suspected epilepsy1

DEFF Research Database (Denmark)

Edfors, R.; Erdal, J.; Rogvi-Hansen, B.

2008-01-01

BACKGROUND: Approximately 20-30% of patients with epilepsy are misdiagnosed and syncope often seems to be the mistaken cause. We re-evaluated patients referred to an epilepsy clinic where suspicion of neurally mediated (reflex) syncope were raised using tilt table testing (HUT). METHODS: HUT...... laboratory results and medical records of 120 consecutive patients were reviewed retrospectively over a period of 27 months. RESULTS: HUT was positive in 59 (49%) patients. Seventeen of 38 (45%) patients previously diagnosed with epilepsy and taking antiepileptic drugs were found to be misdiagnosed. Four...... of 21 patients with epilepsy (19%) had dual diagnoses of reflex syncope and epilepsy. CONCLUSION: HUT is an informative investigation when suspicions of reflex syncope are raised in patients referred to an epilepsy clinic. Reflex syncope is an important and common differential diagnosis of epilepsy...

Public knowledge and attitudes toward epilepsy in Majmaah

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Aqeel Munahi Almutairi

2016-01-01

Full Text Available Objectives: Epilepsy is very common in the Kingdom of Saudi Arabia, occurring in 6.54 out of every 1000 individuals. The current study was conducted to determine the level of public awareness of and attitudes toward epilepsy in the city of Majmaah, Saudi Arabia. Subjects and Methods: This descriptive study was conducted in Majmaah, Saudi Arabia. The study population included respondents derived from preselected public places in the city. Stratified random sampling was used, and the sample size was made up of 706 individuals. A structured questionnaire was used for data collection from respondents after receiving their verbal consent. The data were analyzed using SPSS version 2.0. Ethical approval was obtained from the Ethics Committee of Majmaah University. Results: The results showed that 575 (81.4% of the respondents had heard or read about epilepsy. Almost 50% of the respondents knew someone who had epilepsy, and 393 (55.7% had witnessed what they believed to be a seizure. Results showed that 555 (78.6% respondents believed that epilepsy was neither a contagious disease nor a type of insanity. It was found that 335 (47.5% stated that epilepsy was a brain disease, and almost one-quarter of the respondents said that the manifestation of an epileptic episode is a convulsion. Regarding attitude, 49% and 47.3% of respondents stated that they would not allow their children to interact with individuals with epilepsy and would object to marrying an individual with epilepsy, respectively. Conclusion: Although knowledge about epilepsy is improving, it is still not adequate. The study showed that the attitude toward epilepsy is poor.

Epilepsy and Autism: Is there a special relationship?

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Berg, Anne T.; Plioplys, Sigita

2012-01-01

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

Seizure precipitants (triggering factors) in patients with epilepsy.

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Ferlisi, Monica; Shorvon, Simon

2014-04-01

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

Juvenile giant fibroadenoma

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Vipul Yagnik

2011-07-01

Full Text Available Fibroadenomas are benign solid tumor associated with aberration of normal lobular development. Juvenile giant fibroadenoma is usually single and >5 cm in size /or >500 gms in weight. Important differential diagnoses are: phyllodes tumor and juvenile gigantomastia. Simple excision is the treatment of choice.

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example.

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Black, Angela P; Baker, Marie

2011-04-01

The development of the Internet and subsequent evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected individuals to share experiences and support, and to raise public awareness. Other changes have occurred, not only in the way rare diseases are diagnosed, studied, and treated, but also in how they are addressed at the level of legislation and public policy. The International Dravet syndrome Epilepsy Action League (IDEA League) is the leading patient advocacy organization for Dravet syndrome and related genetic ion-channel epilepsy disorders (hereafter referred to as Dravet syndrome or severe myoclonic epilepsy of infancy, SMEI). The IDEA League's mission encompasses international support and outreach for patients and families, as well as collaboration with physicians, medical education, health care coordination, and research. The IDEA League is an excellent example of the impact of patient advocacy groups, the Internet, and social networking on the landscape of rare diseases. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

EPILEPSY IN ELDERLY PATIENTS (DIAGNOSTIC FEATURES

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S. A. Gulyaev

2014-01-01

Full Text Available Physicians frequently consider that epilepsy is a disease in children and young adults; however, its incidence in elderly patients is not lower and commonly higher than those among children and young people. Among the causes of epilepsy in elderly patients, there is a predominance of acute and chronic cerebral circulatory disorders (50 % of all cases. Other causes of epilepsy (neurodegenerative processes, tumors, etc. are rarely encountered in the elderly. However, there is actually no real pattern of incidence of epilepsy in the elderly since the diversity and features of its clinical manifestations in these patients, as well as difficulties in describing their status make the diagnosis of the disease very hard in this category of patients. Seizures without loss of consciousness, which are especially associated with the development of transient muscle tone disorders and autonomic dysfunction, are commonly regarded as benign vertigo, autonomic or mental disorders. This study has indicated that the development of epilepsy in the elderly, which results from cerebrovascular and neurodegenerative pathology, is not a rare, but relatively common neurological disorder. By taking into account the aging tendency in economically developed countries, the increasing number of elderly patients with epilepsy is an important medical and economic problem that calls for in-depth investigation, timely diagnosis,and treatment.

Life satisfaction in women with epilepsy during and after pregnancy.

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Reiter, Simone Frizell; Bjørk, Marte Helene; Daltveit, Anne Kjersti; Veiby, Gyri; Kolstad, Eivind; Engelsen, Bernt A; Gilhus, Nils Erik

2016-09-01

The aim of this study was to investigate life satisfaction in women with epilepsy during and after pregnancy. The study was based on the Norwegian Mother and Child Cohort Study, including 102,265 women with and without epilepsy from the general population. Investigation took place at pregnancy weeks 15-19 and 6 and 18months postpartum. Women with epilepsy were compared with a reference group without epilepsy. The proportion of women with epilepsy was 0.6-0.7% at all three time points. Women with epilepsy reported lower life satisfaction and self-esteem both during and after pregnancy compared with the references. Single parenting correlated negatively with life satisfaction in epilepsy during the whole study period. Epilepsy was associated with lower levels of relationship satisfaction and higher levels of work strain during pregnancy and lower levels of self-efficacy and satisfactory somatic health 18months postpartum. Adverse life events, such as divorce, were more common in women with epilepsy compared with the references, and fewer women with epilepsy had a paid job 18months postpartum. Reduced life satisfaction associated with epilepsy during and after pregnancy showed that, even in a highly developed welfare society, women with epilepsy struggle. Mothers with epilepsy and their partners should be examined for emotional complaints and partnership satisfaction during and after pregnancy. Validated screening tools are available for such measures. Copyright © 2016 Elsevier Inc. All rights reserved.

Cannabinoids for epilepsy.

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Gloss, David; Vickrey, Barbara

2014-03-05

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

Clinical analysis of 34 cases symptomatic epilepsy secondary to cerebrovascular disease

International Nuclear Information System (INIS)

Zeng Mingyu; Liu Chunfeng

2000-01-01

Objective: To investigate the relation between cerebrovascular disease and symptomatic epilepsy. Method: 786 patients suffered cerebrovascular disease were retrospectively analyzed. Result: The occurrence rate of Secondary to Cerebrovascular Disease symptomatic epilepsy Secondary to Cerebrovascular Disease was 4.3%. Those older than 60 are prone to develop Acrodynia symptomatic epilepsy. Generalized epileptic seizure were often seen. Secondary to Cerebrovascular Disease epilepsy die to cortical lesion are more easily seem than subcortical lesion. Early epilepsy is more than late epilepsy. Conclusion: The cause of symptomatic epilepsy after cerebrovascular disease is not same in different types and course of CVD. Those who developed epilepsy particularly epilepsy continua would have bad prognosis

Perinatal stroke and the risk of developing childhood epilepsy

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Golomb, Meredith R.; Garg, Bhuwan P.; Carvalho, Karen S.; Johnson, Cynthia S.; Williams, Linda S.

2008-01-01

Objectives To describe the prevalence of epilepsy after 6 months-of-age in children with perinatal stroke and examine whether perinatal data predict epilepsy onset and resolution. Study design A retrospective review of 64 children with perinatal stroke. In children with at least 6 months of follow-up data, Kaplan-Meier curves, univariate log-rank tests, and Cox proportional hazards models were used to examine predictors of time to development of seizures, and time to resolution of seizures in children with epilepsy. The association of risk factors with the presence of epilepsy at any time after 6 months-of-age was examined using Fisher’s exact test. Results Forty-one of the 61 children with at least 6 months of follow-up data (67%) had epilepsy between 6 months-of-age and last follow-up, but in 13 of 41 seizures eventually resolved and anticonvulsants were discontinued. Infarct on prenatal ultrasound (p=0.0065) and family history of epilepsy (p=0.0093) were significantly associated with time to development of seizures after 6 months-of-age in the univariate analysis. No assessed variables were associated with time to resolution of epilepsy or with the presence of epilepsy after 6 months-of-age. Conclusions Childhood epilepsy is frequent after perinatal stroke. Evidence of infarction on prenatal ultrasound and a family history of epilepsy predict earlier onset of active seizures. PMID:17889079