A Girl with Idiopathic Epilepsy Showing Forced Normalization after Levetiracetam Administration.

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Kawakami, Yasuhiko; Okazaki, Tetsuya; Takase, Masato; Fujino, Osamu; Itoh, Yasuhiko

2015-01-01

Forced normalization has been reported in association with almost all anti-epileptic drugs. We report on a 9-year-old girl with idiopathic epilepsy who showed forced normalization after administration of levetiracetam (LEV). She initially presented with generalized tonic-clonic seizures when she was 4 years old. Diffuse sharp and slow wave complexes (SWCs) were observed on electroencephalography (EEG). We prescribed sodium valproate (VPA) and benzodiazepines, but the seizures and EEG findings worsened gradually. Although subsequent administration of LEV stopped the seizures, the patient became subject to episodes of rage and violent behavior. Forced normalization was confirmed by the disappearance of SWCs on EEG. We reduced the dose of LEV and tried in various ways to resolve the situation, but finally we had to abandon LEV. To the best of our knowledge, this is the first report of a patient with idiopathic epilepsy but without disabilities in everyday life showing forced normalization associated with LEV administration.

Prevalence of Hypopigmented and Cafe-Au-Lait Spots in Idiopathic Epilepsy

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J Gordon Millichap

2002-03-01

Full Text Available The prevalences of hypopigmented maculae and cafe-au-lait spots were investigated in 210 children with idiopathic epilepsy, between 2 and 17 years of age, and 2754 health controls children, at the Departments of Pediatrics and Dermatology, Hacettepe University and Inonu University Medical Schools, Turkey.

Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample

OpenAIRE

Thomé,Ursula; Alves,Sandra Regina da Paixão; Guerreiro,Sabrina Mendonça; Costa,Célia Regina Carvalho Machado da; Moreira,Fernanda de Souza; Lima,Andrea Bandeira; Tavares,Maria Rita Ferreira; Maia Filho,Heber Souza

2014-01-01

Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopathic epilepsy underwent clinical and neuropsychological assessment to determine the intellectual level, math skills, reading and writing performance and neuropsychological profile. It was observed that the mathematical ability was below schooling ex...

The Evidence Behind the Treatment of Canine Idiopathic Epilepsy

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Marios Charalambous

2016-02-01

Full Text Available Oral phenobarbital and imepitoin in particular, followed by potassium bromide and levetiracetam are likely to be effective for the treatment of canine idiopathic epilepsy. There is strong evidence supporting the use of oral phenobarbital and imepitoin as ‘first line’ medications. However, there remains a lack of evidence for targeted treatment for the various individual epileptic phenotypes and quite limited evidence on direct comparisons of the efficacy between various anti-epileptic drugs.

White matter microstructural changes of thalamocortical networks in photosensitivity and idiopathic generalized epilepsy

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Groppa, Sergiu; Moeller, Friederike; Siebner, Hartwig

2012-01-01

Photosensitivity or photoparoxysmal response (PPR) is an electroencephalography trait that is highly associated with idiopathic generalized epilepsies (IGEs) and characterized by changes in cortical excitability in response to photic stimulation. Studying functional and structural changes of PPR ...

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

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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...

A retrospective study of carbamazepine therapy in the treatment of idiopathic generalised epilepsy

LENUS (Irish Health Repository)

O'Connor, G

2011-05-01

Objective: The exacerbation of idiopathic generalised epilepsy (IGE) by some anti-epileptic drugs (AEDs) such as carbamazepine (CBZ) has been well documented. However, it is unclear whether IGE is always worsened by the use of CBZ, or whether some patients with IGE benefit from its use. \\r\

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.

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

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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.

Idiopathic epileptic syndromes and cognition.

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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.

Transient neuromyopathy after bromide intoxication in a dog with idiopathic epilepsy

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Steinmetz Sonja

2012-12-01

Full Text Available Abstract A seven-year old Australian Shepherd, suffering from idiopathic epilepsy under treatment with phenobarbitone and potassium bromide, was presented with generalised lower motor neuron signs. Electrophysiology and muscle-nerve biopsies revealed a neuromyopathy. The serum bromide concentration was increased more than two-fold above the upper reference value. Clinical signs disappeared after applying diuretics and reducing the potassium bromide dose rate. This is the first case report describing electrophysiological and histopathological findings associated with bromide induced lower motor neuron dysfunction in a dog.

Early classification of childhood focal idiopathic epilepsies: is it possible at the first seizure?

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Gaggero, Roberto; Pistorio, Angela; Pignatelli, Sara; Rossi, Alessandra; Mancardi, Maria Margherita; Baglietto, Maria Giuseppina; Striano, Pasquale; Verrotti, Alberto

2014-05-01

To evaluate the possibility of early syndrome classification of idiopathic partial epilepsies in children at the first seizure. In this observational study we prospectively evaluated 298 patients, aged between 1 month and 17 years and consecutively referred for the first unprovoked focal seizure. The whole cohort included 133 patients; the final analysis was carried out on 107 (59 males) individuals. Age at the first seizure ranged between 2.3 and 13.0 years. Clinical and EEG data of all patients were independently reviewed by two medical doctors. Patients were followed-up for at least 5 years, with a mean period of follow-up of 6.9 years. After the first seizure, a specific syndrome could be diagnosed in eighty (74.7%) children. In particular, Childhood Epilepsy with Centro-Temporal Spikes (CECTS) 42.9% of cases, Panayiotopoulos Syndrome (PS) 28.9%, idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) 2.8%. Unclassified cases were 25.4%. At the end of the follow-up, the diagnosis was confirmed in 72 of 80 children (90%): BCECTS 89% of patients, PS 90% and ICOE-G 100%: among the unclassified cases, in 11 patients (40.7%) the diagnosis did not change, whereas 16 patients (59.3%) evolved into other syndromes or into atypical forms. At the onset an initial diagnosis is possible in the majority of cases; epilepsy syndromes can be identified at the time of the initial diagnosis and at follow up this diagnosis has not to be revised in 90% of the cases. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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)

Neocortical gamma oscillations in idiopathic generalized epilepsy

DEFF Research Database (Denmark)

Benedek, Krisztina; Berenyi, Antal; Gombkoto, Peter

2016-01-01

Objective: Absence seizures in patients with idiopathic generalized epilepsy (IGE) may in part be explained by a decrease in phasic GABAA (type-A c-aminobutyric acid) receptor function, but the mechanisms are only partly understood. Here we studied the relation between ictal and interictal spike......-wave discharges (SWDs) and electroencephalography (EEG) gamma oscillatory activity (30-60 Hz) in patients with IGE. Methods: EEG recordings were obtained of 14 children with IGE (mean age, 8.5 +/- 5 years) and 14 age-and sex-matched controls. Time-frequency analysis of each seizure and seizure-free control epochs...... was performed and cross-coherences of neocortical gamma oscillations were calculated to describe interictal and ictal characteristics of generalized seizures. Results: SWDs were characterized with an abrupt increase of oscillatory activity of 34 and 13-60 Hz, peaking at 3-4 and 30-60 Hz, and with a simultaneous...

Submikroskopiske kromosomforandringer disponerer til epilepsi

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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 ...

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

DEFF Research Database (Denmark)

de Kovel, Carolien G F; Trucks, Holger; Helbig, Ingo

2010-01-01

could be examined in 14 families. While 10 microdeletions were inherited (seven maternal and three paternal transmissions), four microdeletions occurred de novo at 15q13.3 (n = 1), 16p13.11 (n = 2) and 22q11.2 (n = 1). Eight of the transmitting parents were clinically unaffected, suggesting...... syndromes. The candidate microdeletions were assessed by high-density single nucleotide polymorphism arrays in 1234 patients with idiopathic generalized epilepsy from North-western Europe and 3022 controls from the German population. Microdeletions were validated by quantitative polymerase chain reaction.......2 (odds ratio = 4.9; 95% confidence interval 1.8-13.2; P = 4.2 x 10(-4)) and 16p13.11 (odds ratio = 7.4; 95% confidence interval 1.3-74.7; P = 0.009). Including nine patients with idiopathic generalized epilepsy in this cohort with known 15q13.3 microdeletions (IGE/control: 9/0), parental transmission...

Social cognition dysfunctions in patients with epilepsy: Evidence from patients with temporal lobe and idiopathic generalized epilepsies.

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Realmuto, Sabrina; Zummo, Leila; Cerami, Chiara; Agrò, Luigi; Dodich, Alessandra; Canessa, Nicola; Zizzo, Andrea; Fierro, Brigida; Daniele, Ornella

2015-06-01

Despite an extensive literature on cognitive impairments in focal and generalized epilepsy, only a few number of studies specifically explored social cognition disorders in epilepsy syndromes. The aim of our study was to investigate social cognition abilities in patients with temporal lobe epilepsy (TLE) and in patients with idiopathic generalized epilepsy (IGE). Thirty-nine patients (21 patients with TLE and 18 patients with IGE) and 21 matched healthy controls (HCs) were recruited. All subjects underwent a basic neuropsychological battery plus two experimental tasks evaluating emotion recognition from facial expression (Ekman-60-Faces test, Ek-60F) and mental state attribution (Story-based Empathy Task, SET). In particular, the latter is a newly developed task that assesses the ability to infer others' intentions (i.e., intention attribution - IA) and emotions (i.e., emotion attribution - EA) compared with a control condition of physical causality (i.e., causal inferences - CI). Compared with HCs, patients with TLE showed significantly lower performances on both social cognition tasks. In particular, all SET subconditions as well as the recognition of negative emotions were significantly impaired in patients with TLE vs. HCs. On the contrary, patients with IGE showed impairments on anger recognition only without any deficit at the SET task. Emotion recognition deficits occur in patients with epilepsy, possibly because of a global disruption of a pathway involving frontal, temporal, and limbic regions. Impairments of mental state attribution specifically characterize the neuropsychological profile of patients with TLE in the context of the in-depth temporal dysfunction typical of such patients. Impairments of socioemotional processing have to be considered as part of the neuropsychological assessment in both TLE and IGE in view of a correct management and for future therapeutic interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample.

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Thomé, Ursula; Paixão Alves, Sandra Regina da; Guerreiro, Sabrina Mendonça; Machado da Costa, Célia Regina Carvalho; Souza Moreira, Fernanda de; Bandeira Lima, Andrea; Ferreira Tavares, Maria Rita; Souza Maia Filho, Heber

2014-04-01

Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopathic epilepsy underwent clinical and neuropsychological assessment to determine the intellectual level, math skills, reading and writing performance and neuropsychological profile. It was observed that the mathematical ability was below schooling expectations in a higher frequency than expected. There were no significant differences in mathematical performance among groups divided by number of antiepileptic drugs used, duration of disease and types and frequency of seizures. There was a positive correlation with intelligence quotient and attentional and reading level. These results suggest the existence not only of dyscalculia, but the concurrence of attentional and reading problems for the poor mathematical performance in this population.

Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample

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Ursula Thomé

2014-04-01

Full Text Available Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopathic epilepsy underwent clinical and neuropsychological assessment to determine the intellectual level, math skills, reading and writing performance and neuropsychological profile. It was observed that the mathematical ability was below schooling expectations in a higher frequency than expected. There were no significant differences in mathematical performance among groups divided by number of antiepileptic drugs used, duration of disease and types and frequency of seizures. There was a positive correlation with intelligence quotient and attentional and reading level. These results suggest the existence not only of dyscalculia, but the concurrence of attentional and reading problems for the poor mathematical performance in this population.

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut.

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Funata, Keiko; Shike, Tatsuhiko; Takenouchi, Toshiki; Yamashita, Yukio; Takahashi, Takao

2018-01-01

Occipital lobe epilepsy of childhood includes two entities: Panayiotopoulos syndrome in pre-school children, and idiopathic childhood occipital epilepsy of Gastaut (ICOEG) in school-age children. The typical initial manifestation of the former is vomiting, and that of the latter is visual hallucinations. Ictal cardiopulmonary arrest at initial presentation has been reported for Panayiotopoulos syndrome, but not for ICOEG. We document a 7-year-old previously healthy girl who experienced an acute elemental visual hallucination of seeing insects, followed by a new-onset generalized seizure. Upon arrival at the local hospital, she was unconscious and soon thereafter, developed respiratory arrest. She was resuscitated and initiated on mechanical ventilation. An electroencephalogram taken three days after seizure cessation showed frequent occipital spikes, consistent with the diagnosis of ICOEG. The sequence of acute elementary visual hallucination followed by a motor seizure, and then witnessed respiratory arrest illustrated occurrence of life-threatening autonomic involvement at initial onset in ICOEG. We speculate that the epileptic propagation from the occipital lobes eventually compromised the respiratory center in the brainstem. The possibility of occipital lobe epilepsy should be considered in school-age children presenting with acute visual hallucination followed by respiratory arrest. Such a presentation should prompt an urgent electroencephalogram and initiation of antiepileptic treatment if indicated. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Functional neuroimaging abnormalities in idiopathic generalized epilepsy

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Megan L. McGill

2014-01-01

Full Text Available Magnetic resonance imaging (MRI techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA measures from diffusion tensor imaging (DTI and fractional amplitude of low frequency fluctuations (fALFF in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE.

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

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

DEFF Research Database (Denmark)

Lal, Dennis; Reinthaler, Eva M; Altmüller, Janine

2013-01-01

Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including idiopathic generalized epilepsy. The RBFOX1 protein and its homologues (RBFOX2 and RBFOX3) regulate alternative splicing of many neuronal transcripts...... involved in the homeostatic control of neuronal excitability. In this study, we explored if structural microdeletions and exonic sequence variations in RBFOX1, RBFOX2, RBFOX3 confer susceptibility to rolandic epilepsy (RE), a common idiopathic focal childhood epilepsy. By high-density SNP array screening...... that exon deletions and truncating mutations of RBFOX1 and RBFOX3 contribute to the genetic variance of partial and generalized idiopathic epilepsy syndromes....

Estimating the Optimal Dosage of Sodium Valproate in Idiopathic Generalized Epilepsy with Adaptive Neuro-Fuzzy Inference System

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Somayyeh Lotfi Noghabi

2012-07-01

Full Text Available Introduction: Epilepsy is a clinical syndrome in which seizures have a tendency to recur. Sodium valproate is the most effective drug in the treatment of all types of generalized seizures. Finding the optimal dosage (the lowest effective dose of sodium valproate is a real challenge to all neurologists. In this study, a new approach based on Adaptive Neuro-Fuzzy Inference System (ANFIS was presented for estimating the optimal dosage of sodium valproate in IGE (Idiopathic Generalized Epilepsy patients. Methods: 40 patients with Idiopathic Generalized Epilepsy, who were referred to the neurology department of Mashhad University of Medical Sciences between the years 2006-2011, were included in this study. The function Adaptive Neuro- Fuzzy Inference System (ANFIS constructs a Fuzzy Inference System (FIS whose membership function parameters are tuned (adjusted using either a back-propagation algorithm alone, or in combination with the least squares type of method (hybrid algorithm. In this study, we used hybrid method for adjusting the parameters. Methods: The R-square of the proposed system was %598 and the Pearson correlation coefficient was significant (P 0.05. Although the accuracy of the model was not high, it wasgood enough to be applied for treating the IGE patients with sodium valproate. Discussion: This paper presented a new application of ANFIS for estimating the optimal dosage of sodium valproate in IGE patients. Fuzzy set theory plays an important role in dealing with uncertainty when making decisions in medical applications. Collectively, it seems that ANFIS has a high capacity to be applied in medical sciences, especially neurology.

Risk Factors for Survival in a University Hospital Population of Dogs with Epilepsy

DEFF Research Database (Denmark)

Fredso, N.; Koch, B. C.; Toft, Nils

2014-01-01

BackgroundAlthough a common neurological disorder in dogs, long-term outcome of epilepsy is sparsely documented. ObjectivesTo investigate risk factors for survival and duration of survival in a population of dogs with idiopathic epilepsy or epilepsy associated with a known intracranial cause....... AnimalsOne hundred and two client owned dogs; 78 dogs with idiopathic epilepsy and 24 dogs with epilepsy associated with a known intracranial cause. MethodsA retrospective hospital based study with follow-up. Dogs diagnosed with epilepsy between 2002 and 2008 were enrolled in the study. Owners were...... interviewed by telephone using a structured questionnaire addressing epilepsy status, treatment, death/alive, and cause of death. ResultsMedian life span was 7.6years, 9.2years, and 5.8years for all dogs, and dogs with idiopathic epilepsy or dogs with epilepsy associated with a known intracranial cause (P...

Added diagnostic value of magnetoencephalography (MEG) in patients suspected for epilepsy, where previous, extensive EEG workup was unrevealing

DEFF Research Database (Denmark)

Duez, Lene; Beniczky, Sándor; Tankisi, Hatice

2016-01-01

was calculated from the cases where abnormalities were seen in MEG but not EEG. RESULTS: Twenty-two patients had the diagnosis epilepsy according to the reference standard. MEG-EEG detected abnormalities, and supported the diagnosis in nine of the 22 patients with the diagnosis epilepsy at one-year follow......OBJECTIVE: To elucidate the possible additional diagnostic yield of MEG in the workup of patients with suspected epilepsy, where repeated EEGs, including sleep-recordings failed to identify abnormalities. METHODS: Fifty-two consecutive patients with clinical suspicion of epilepsy and at least three...... normal EEGs, including sleep-EEG, were prospectively analyzed. The reference standard was inferred from the diagnosis obtained from the medical charts, after at least one-year follow-up. MEG (306-channel, whole-head) and simultaneous EEG (MEG-EEG) was recorded for one hour. The added sensitivity of MEG...

Long-Term Social Outcomes in Childhood Epilepsy

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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.

Sleep onset uncovers thalamic abnormalities in patients with idiopathic generalised epilepsy

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Andrew P. Bagshaw

Full Text Available The thalamus is crucial for sleep regulation and the pathophysiology of idiopathic generalised epilepsy (IGE, and may serve as the underlying basis for the links between the two. We investigated this using EEG-fMRI and a specific emphasis on the role and functional connectivity (FC of the thalamus. We defined three types of thalamic FC: thalamocortical, inter-hemispheric thalamic, and intra-hemispheric thalamic. Patients and controls differed in all three measures, and during wakefulness and sleep, indicating disorder-dependent and state-dependent modification of thalamic FC. Inter-hemispheric thalamic FC differed between patients and controls in somatosensory regions during wakefulness, and occipital regions during sleep. Intra-hemispheric thalamic FC was significantly higher in patients than controls following sleep onset, and disorder-dependent alterations to FC were seen in several thalamic regions always involving somatomotor and occipital regions. As interactions between thalamic sub-regions are indirect and mediated by the inhibitory thalamic reticular nucleus (TRN, the results suggest abnormal TRN function in patients with IGE, with a regional distribution which could suggest a link with the thalamocortical networks involved in the generation of alpha rhythms. Intra-thalamic FC could be a more widely applicable marker beyond patients with IGE. Keywords: Functional connectivity, Generalised epilepsy, Sleep, Thalamic reticular nucleus thalamus

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

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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.

Prevalence of epilepsy and seizure disorders as causes of apparent life- threatening event (ALTE) in children admitted to a tertiary hospital.

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Anjos, Alessandra Marques dos; Nunes, Magda Lahorgue

2009-09-01

To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE) in children admitted at the emergency and followed in a tertiary hospital. Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. During the study, 30 (4.2%) children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73%) and term infants (70%). Neonatal neurological disorders and neuropsychomotor development delay were found respectively in 13.4% and 10% of the cases. Etiological investigation revealed that 50% of the cases were idiopathic, and 13.4% were caused by epilepsy or seizure disorders. Although all patients had recurrent ALTE events, epilepsy had not been previously suspected. Epilepsy should be included in the differential diagnosis of ALTE, particularly when events are recurrent.

Temporal lobe epilepsy due to meningoencephaloceles into the greater sphenoid wing. A consequence of idiopathic intracranial hypertension?

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Urbach, H.; Jamneala, G.; Mader, I.; Egger, K.; Yang, S. [Medical Center - Freiburg Univ. (Germany). Dept. of Neuroradiology; Altenmueller, D. [Medical Center - Freiburg Univ. (Germany). Dept. of Epileptology

2018-01-15

Antero-inferior temporal lobe meningoencephaloceles are a rare, but increasingly recognized cause of drug-resistant temporal lobe epilepsy (TLE). In order to evaluate whether these lesions are related to idiopathic intracranial hypertension (IIH), we analyzed clinical and MRI findings of a cohort of patients undergoing presurgical work-up. Seizure onset in the anterior temporal lobe was proven by EEG electrodes in 22 patients, and in 21 patients, anterior temporal lobectomy (mostly with sparing of the hippocampus) was performed. MRI signs of IIH (in particular empty sella) and the volumes of the ventricles and external CSF spaces were determined and related to the body mass index (BMI) and clinical outcome. Six of seven obese (BMI > 30 kg/m{sup 2}) compared to four of 15 non-obese patients had partial empty or empty sella (p = 0.007). Bilateral lesions were found in all obese and 11 patients. Seizure freedom (Engel class 1A) was achieved in 12 of 21 patients (5 obese compared to 7 non-obese patients). BMI was related to the volume of the external CSF spaces (r = 0.467), and age at seizure onset was higher in obese patients. Roughly a third of patients with temporal lobe epilepsy due to antero-inferior meningoencephaloceles is obese and has MRI signs of idiopathic intracranial hypertension. (orig.)

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.

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...

Genetics Home Reference: epilepsy-aphasia spectrum

Science.gov (United States)

... Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45( ... Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep;45( ...

A study of brain MRI findings in children with epilepsy

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Kanematsu, Sachiko; Sumida, Sawako; Muto, Ayako; Osawa, Makiko; Ono, Yuko [Tokyo Women' s Medical Coll. (Japan); Uchida, Moriyasu; Maruyama, Hiroshi

2000-06-01

Magnetic resonance imaging in the brain was performed in 293 patients with childhood-onset (<15 y.o.) epilepsy who had been classified into 4 groups, idiopathic localization-related epilepsy (ILRE), 78 patients; idiopathic generalized epilepsy (IGE), 116 patients; symptomatic localization-related epilepsy (SLRE), 68 patients and symptomatic generalized epilepsy (SGE), 31 patients, with the Classification of Epilepsies and Epileptic Syndrome (1989 International League Against Epilepsy). The examination was performed with a 1.5 T magnet. One hundred twenty-five patients (42.7%) showed abnormal findings, and the incidence in each group was as follows: Idiopathic epilepsy: The rate of abnormal findings in the ILRE and IGE groups was 21.8% and 20.7%, respectively. Most of the abnormal findings were secondary changes, such as diffuse or localized brain atrophy. Of the congenital abnormalities, the main finding was arachnoid cyst. Symptomatic epilepsy: The rate of abnormality in the SLRE patients was 88.2%, and 85% of the findings were secondary changes, i.e., brain atrophy, or degeneration of the white matter. In the SGE group, the rate was 77.4%, with an almost equal percentage of congenital and secondary changes. Of 255 patients who were examined by electroencephalography (EEG) on the same day as MRI, about 50% showed a correlation between the EEG records and the MRI abnormalities. However, only 8 patients showed a correlation in localization between the EEG and MRI abnormalities. (author)

A study of brain MRI findings in children with epilepsy

International Nuclear Information System (INIS)

Kanematsu, Sachiko; Sumida, Sawako; Muto, Ayako; Osawa, Makiko; Ono, Yuko; Uchida, Moriyasu; Maruyama, Hiroshi

2000-01-01

Magnetic resonance imaging in the brain was performed in 293 patients with childhood-onset (<15 y.o.) epilepsy who had been classified into 4 groups, idiopathic localization-related epilepsy (ILRE), 78 patients; idiopathic generalized epilepsy (IGE), 116 patients; symptomatic localization-related epilepsy (SLRE), 68 patients and symptomatic generalized epilepsy (SGE), 31 patients, with the Classification of Epilepsies and Epileptic Syndrome (1989 International League Against Epilepsy). The examination was performed with a 1.5 T magnet. One hundred twenty-five patients (42.7%) showed abnormal findings, and the incidence in each group was as follows: Idiopathic epilepsy: The rate of abnormal findings in the ILRE and IGE groups was 21.8% and 20.7%, respectively. Most of the abnormal findings were secondary changes, such as diffuse or localized brain atrophy. Of the congenital abnormalities, the main finding was arachnoid cyst. Symptomatic epilepsy: The rate of abnormality in the SLRE patients was 88.2%, and 85% of the findings were secondary changes, i.e., brain atrophy, or degeneration of the white matter. In the SGE group, the rate was 77.4%, with an almost equal percentage of congenital and secondary changes. Of 255 patients who were examined by electroencephalography (EEG) on the same day as MRI, about 50% showed a correlation between the EEG records and the MRI abnormalities. However, only 8 patients showed a correlation in localization between the EEG and MRI abnormalities. (author)

Correlation of EEG with neuropsychological status in children with epilepsy.

Science.gov (United States)

Hsu, David A; Rayer, Katherine; Jackson, Daren C; Stafstrom, Carl E; Hsu, Murielle; Ferrazzano, Peter A; Dabbs, Kevin; Worrell, Gregory A; Jones, Jana E; Hermann, Bruce P

2016-02-01

To determine correlations of the EEG frequency spectrum with neuropsychological status in children with idiopathic epilepsy. Forty-six children ages 8-18 years old with idiopathic epilepsy were retrospectively identified and analyzed for correlations between EEG spectra and neuropsychological status using multivariate linear regression. In addition, the theta/beta ratio, which has been suggested as a clinically useful EEG marker of attention-deficit hyperactivity disorder (ADHD), and an EEG spike count were calculated for each subject. Neuropsychological status was highly correlated with posterior alpha (8-15 Hz) EEG activity in a complex way, with both positive and negative correlations at lower and higher alpha frequency sub-bands for each cognitive task in a pattern that depends on the specific cognitive task. In addition, the theta/beta ratio was a specific but insensitive indicator of ADHD status in children with epilepsy; most children both with and without epilepsy have normal theta/beta ratios. The spike count showed no correlations with neuropsychological status. (1) The alpha rhythm may have at least two sub-bands which serve different purposes. (2) The theta/beta ratio is not a sensitive indicator of ADHD status in children with epilepsy. (3) The EEG frequency spectrum correlates more robustly with neuropsychological status than spike count analysis in children with idiopathic epilepsy. (1) The role of posterior alpha rhythms in cognition is complex and can be overlooked if EEG spectral resolution is too coarse or if neuropsychological status is assessed too narrowly. (2) ADHD in children with idiopathic epilepsy may involve different mechanisms from those in children without epilepsy. (3) Reliable correlations with neuropsychological status require longer EEG samples when using spike count analysis than when using frequency spectra. Copyright © 2015 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights

Idiopathic chondrolysis - diagnostic difficulties

International Nuclear Information System (INIS)

Kozlowski, K.; Scougall, J.; Royal Alexandra Hospital for Children, Sydney

1984-01-01

Four cases of idiopathic chondrolysis of the hip in three white girls and one Maori girl are reported. The authors stress the causes why a disease with characteristic clinical and radiographic appearances and normal biochemical findings presents diagnostic difficulties. It is suspected that idiopathic chondrolysis is a metabolic disorder of chondrocytes, triggered by environment circumstances in susceptible individuals. Idiopathic chondrolysis is probably one of the most common causes of coxarthrosis in women. (orig.)

Hypoparathyroidism Causing Seizures: When Epilepsy Does Not Fit

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Faheem Seedat

2018-01-01

Full Text Available A 24-year-old man presented to the Chris Hani Baragwanath Academic Hospital emergency department with recurrent seizures having previously been diagnosed with epilepsy from age 14. The biochemical investigations and brain imaging were suggestive of seizures secondary to hypocalcemia, and a diagnosis of idiopathic hypoparathyroidism was confirmed. After calcium and vitamin D replacement, the patient recovered well and is seizure free, and off antiepileptic therapy. This case highlights the occurrence of brain calcinosis in idiopathic hypoparathyroidism; the occurrence of acute symptomatic seizures due to provoking factors other than epilepsy; and the importance, in the correct clinical setting, of considering alternative, and sometimes treatable, causes of seizures other than epilepsy.

Prevalence of lateral ventricle asymmetry in brain MRI studies of neurologically normal dogs and dogs with idiopathic epilepsy.

Science.gov (United States)

Pivetta, Mauro; De Risio, Luisa; Newton, Richard; Dennis, Ruth

2013-01-01

Asymmetry of the cerebral lateral ventricles is a common finding in cross-sectional imaging of otherwise normal canine brains and has been assumed to be incidental. The purpose of this retrospective study was to compare the prevalence of ventricular asymmetry in brain MRI studies of normal dogs and dogs with idiopathic epilepsy. Brain MRI archives were searched for 100 neurologically normal dogs (Group 1) and 100 dogs with idiopathic epilepsy (Group 2). For each dog, asymmetry of the lateral ventricles was subjectively classified as absent, mild, moderate, and severe based on a consensus of two observers who were unaware of group status. Ventricular areas were measured from transverse T1W images at the level of the interthalamic adhesion. An asymmetry ratio was calculated as the ratio of the larger to smaller ventricular transverse area. There was excellent agreement between subjective assessments of ventricular asymmetry and quantitative assessments using asymmetry ratios (k = 0.995). The prevalence of asymmetry was 38% in Group 1 dogs and 44% in Group 2 dogs. Assymmetry was scored as mild in the majority of Group 2 dogs. There was no significant association between presence/absence and degree of ventricular asymmetry vs. dog group, age, gender, or skull conformation. Findings from the current study supported previously published assumptions that asymmetry of the lateral cerebral ventricles is an incidental finding in MRI studies of the canine brain. © 2013 Veterinary Radiology & Ultrasound.

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)

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

Science.gov (United States)

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

2017-11-01

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

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.

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.)

Nonsymptomatic generalized epilepsy in children younger than six years : Excellent prognosis, but classification should be reconsidered after follow-up: The Dutch study of epilepsy in childhood

NARCIS (Netherlands)

Middeldorp, CM; Geerts, AT; Stroink, H; van Donselaar, CA; Arts, WFM

Purpose: To assess the prognosis and the accuracy of the epilepsy classification in young children with nonsymptomatic generalized epilepsy. Methods: Of the cohort of the Dutch Study of Epilepsy in Childhood (n = 466), all children younger than 6 years with a diagnosis of idiopathic (IGE) or

Distinct white matter abnormalities in different idiopathic generalized epilepsy syndromes.

Science.gov (United States)

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

Comparison of background EEG activity of different groups of patients with idiopathic epilepsy using Shannon spectral entropy and cluster-based permutation statistical testing.

Directory of Open Access Journals (Sweden)

Jose Antonio Urigüen

Full Text Available Idiopathic epilepsy is characterized by generalized seizures with no apparent cause. One of its main problems is the lack of biomarkers to monitor the evolution of patients. The only tools they can use are limited to inspecting the amount of seizures during previous periods of time and assessing the existence of interictal discharges. As a result, there is a need for improving the tools to assist the diagnosis and follow up of these patients. The goal of the present study is to compare and find a way to differentiate between two groups of patients suffering from idiopathic epilepsy, one group that could be followed-up by means of specific electroencephalographic (EEG signatures (intercritical activity present, and another one that could not due to the absence of these markers. To do that, we analyzed the background EEG activity of each in the absence of seizures and epileptic intercritical activity. We used the Shannon spectral entropy (SSE as a metric to discriminate between the two groups and performed permutation-based statistical tests to detect the set of frequencies that show significant differences. By constraining the spectral entropy estimation to the [6.25-12.89 Hz range, we detect statistical differences (at below 0.05 alpha-level between both types of epileptic patients at all available recording channels. Interestingly, entropy values follow a trend that is inversely related to the elapsed time from the last seizure. Indeed, this trend shows asymptotical convergence to the SSE values measured in a group of healthy subjects, which present SSE values lower than any of the two groups of patients. All these results suggest that the SSE, measured in a specific range of frequencies, could serve to follow up the evolution of patients suffering from idiopathic epilepsy. Future studies remain to be conducted in order to assess the predictive value of this approach for the anticipation of seizures.

[Ecological executive function characteristics and effects of executive function on social adaptive function in school-aged children with epilepsy].

Science.gov (United States)

Xu, X J; Wang, L L; Zhou, N

2016-02-23

To explore the characteristics of ecological executive function in school-aged children with idiopathic or probably symptomatic epilepsy and examine the effects of executive function on social adaptive function. A total of 51 school-aged children with idiopathic or probably symptomatic epilepsy aged 5-12 years at our hospital and 37 normal ones of the same gender, age and educational level were included. The differences in ecological executive function and social adaptive function were compared between the two groups with the Behavior Rating Inventory of Executive Function (BRIEF) and Child Adaptive Behavior Scale, the Pearson's correlation test and multiple stepwise linear regression were used to explore the impact of executive function on social adaptive function. The scores of school-aged children with idiopathic or probably symptomatic epilepsy in global executive composite (GEC), behavioral regulation index (BRI) and metacognition index (MI) of BRIEF ((62±12), (58±13) and (63±12), respectively) were significantly higher than those of the control group ((47±7), (44±6) and (48±8), respectively))(Pchildren with idiopathic or probably symptomatic epilepsy in adaptive behavior quotient (ADQ), independence, cognition, self-control ((86±22), (32±17), (49±14), (41±16), respectively) were significantly lower than those of the control group ((120±12), (59±14), (59±7) and (68±10), respectively))(Pchildren with idiopathic or probably symptomatic epilepsy. School-aged children with idiopathic or probably symptomatic epilepsy may have significantly ecological executive function impairment and social adaptive function reduction. The aspects of BRI, inhibition and working memory in ecological executive function are significantly related with social adaptive function in school-aged children with epilepsy.

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.)

Calcium Sensing Receptor Mutations Implicated in Pancreatitis and Idiopathic Epilepsy Syndrome Disrupt an Arginine-rich Retention Motif

Science.gov (United States)

Stepanchick, Ann; McKenna, Jennifer; McGovern, Olivia; Huang, Ying; Breitwieser, Gerda E.

2010-01-01

Calcium sensing receptor (CaSR) mutations implicated in familial hypocalciuric hypercalcemia, pancreatitis and idiopathic epilepsy syndrome map to an extended arginine-rich region in the proximal carboxyl terminus. Arginine-rich motifs mediate endoplasmic reticulum retention and/or retrieval of multisubunit proteins so we asked whether these mutations, R886P, R896H or R898Q, altered CaSR targeting to the plasma membrane. Targeting was enhanced by all three mutations, and Ca2+-stimulated ERK1/2 phosphorylation was increased for R896H and R898Q. To define the role of the extended arginine-rich region in CaSR trafficking, we independently determined the contributions of R890/R891 and/or R896/K897/R898 motifs by mutation to alanine. Disruption of the motif(s) significantly increased surface expression and function relative to wt CaSR. The arginine-rich region is flanked by phosphorylation sites at S892 (protein kinase C) and S899 (protein kinase A). The phosphorylation state of S899 regulated recognition of the arginine-rich region; S899D showed increased surface localization. CaSR assembles in the endoplasmic reticulum as a covalent disulfide-linked dimer and we determined whether retention requires the presence of arginine-rich regions in both subunits. A single arginine-rich region within the dimer was sufficient to confer intracellular retention comparable to wt CaSR. We have identified an extended arginine-rich region in the proximal carboxyl terminus of CaSR (residues R890 - R898) which fosters intracellular retention of CaSR and is regulated by phosphorylation. Mutation(s) identified in chronic pancreatitis and idiopathic epilepsy syndrome therefore increase plasma membrane targeting of CaSR, likely contributing to the altered Ca2+ signaling characteristic of these diseases. PMID:20798521

Psychiatric Comorbidity in Children with New Onset Epilepsy

Science.gov (United States)

Jones, Jana E.; Watson, Ryann; Sheth, Raj; Caplan, Rochelle; Koehn, Monica; Seidenberg, Michael; Hermann, Bruce

2007-01-01

The aim of this study was to characterize the distribution, timing, and risk factors for psychiatric comorbidity in children with recent onset epilepsy. Children aged 8 to 18 years with recent onset epilepsy (less than 1 year in duration) of idiopathic etiology (n=53) and a healthy comparison group (n=50) underwent a structured psychiatric…

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...

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

Directory of Open Access Journals (Sweden)

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.

Is lower IQ in children with epilepsy due to lower parental IQ? A controlled comparison study

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Walker, Natalie M; Jackson, Daren C; Dabbs, Kevin; Jones, Jana E; Hsu, David A; Stafstrom, Carl E; Sheth, Raj D; Koehn, Monica A; Seidenberg, Michael; Hermann, Bruce P

2012-01-01

Aim The aim of this study was to determine the relationship between parent and child full-scale IQ (FSIQ) in children with epilepsy and in typically developing comparison children and to examine parent–child IQ differences by epilepsy characteristics. Method The study participants were 97 children (50 males, 47 females; age range 8–18y; mean age 12y 3mo, SD 3y.1mo) with recent-onset epilepsy including idiopathic generalized (n=43) and idiopathic localization-related epilepsies (n=54); 69 healthy comparison children (38 females, 31 males; age range 8–18y; mean age 12y 8mo, SD 3y 2mo), and one biological parent per child. All participants were administered the Wechsler Abbreviated Intelligence Scale. FSIQ was compared in children with epilepsy and typically developing children; FSIQ was compared in the parents of typically developing children and the parents of participants with epilepsy; parent–child FSIQ differences were compared between the groups. Results FSIQ was lower in children with epilepsy than in comparison children (pepilepsy did not differ from the FSIQ of the parents of typically developing children. Children with epilepsy had significantly lower FSIQ than their parents (pepilepsy than the comparison group (p=0.043). Epilepsy characteristics were not related to parent–child IQ difference. Interpretation Parent–child IQ difference appears to be a marker of epilepsy impact independent of familial IQ, epilepsy syndrome, and clinical seizure features. This marker is evident early in the course of idiopathic epilepsies and can be tracked over time. PMID:23216381

Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy.

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Sivakumar, Sanjeev; Zutshi, Deepti; Seraji-Bozorgzad, Navid; Shah, Aashit K

2017-01-01

Marijuana-based treatment for refractory epilepsy shows promise in surveys, case series, and clinical trials. However, literature on their EEG effects is sparse. Our objective is to analyze the effect of marijuana on EEG in a 24-year-old patient with idiopathic generalized epilepsy treated with cannabis. We blindly reviewed 3 long-term EEGs-a 24-hour study while only on antiepileptic drugs, a 72-hour EEG with Cannabis indica smoked on days 1 and 3 in addition to antiepileptic drugs, and a 48-hour EEG with combination C indica/sativa smoked on day 1 plus antiepileptic drugs. Generalized spike-wave discharges and diffuse paroxysmal fast activity were categorized as interictal and ictal, based on duration of less than 10 seconds or greater, respectively. Data from three studies concatenated into contiguous time series, with usage of marijuana modeled as time-dependent discrete variable while interictal and ictal events constituted dependent variables. Analysis of variance as initial test for significance followed by time series analysis using Generalized Autoregressive Conditional Heteroscedasticity model was performed. Statistical significance for lower interictal events (analysis of variance P = 0.001) was seen during C indica use, but not for C indica/sativa mixture (P = 0.629) or ictal events (P = 0.087). However, time series analysis revealed a significant inverse correlation between marijuana use, with interictal (P EEG data, we demonstrate a decrease in interictal and ictal electrographic events during marijuana use. Larger samples of patients and EEG, with standardized cannabinoid formulation and dosing, are needed to validate our findings.

Diagnosis of adult epilepsy- Examinations of cerebral imaging and etiological classification

International Nuclear Information System (INIS)

Mauguiere, F.; Isnard, J.

1995-01-01

The different examinations to get images of brain during adult epilepsy are detailed here. Then it is possible to class epilepsy as symptomatic, idiopathic or cryptogenic and the specifications of images in each case are given. (MML). 22 refs., 4 figs

Profile of Epilepsy in a Regional Hospital in Al Qassim, Saudi Arabia

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Hamdy, Nermin A; Alamgir, Mohammad Jawad; Mohammad, El Gamri E; Khedr, Mahmoud H; Fazili, Shafat

2014-01-01

Introduction Epilepsy is a diverse set of chronic neurological disorders characterized by seizures. It is one of the most common of the serious neurological disorders. About 3% of people will be diagnosed with epilepsy at some time in their lives. Objectives We aimed to address the commonest types of seizures, their aetiologies, EEG and neuroimaging results and prognosis of patients presented to neurology services of the King Fahad Specialist Hospital- AlQassim (KFSH). Methodology In this retrospective epidemiological study we investigated the medical records of patients with epilepsy, who attended the neurology services of KFSH, during the study period (26/10/2011–26/4/2012). Results The study included 341 patients; 189 (55.4%) males and 152 (44.6%) females. Their ages ranged between 12 and 85 years (mean ± SD = 31±16.9). The majority of patients had Generalised Tonic Clonic Seizures (76.2%), followed by Complex Partial Seizures (7.6%). 73% of our patients had idiopathic epilepsy. The commonest causes for symptomatic epilepsy were Cerebro Vascular Accidents and Head trauma. Hemiplegia, mental retardation and psychiatric illness were the commonest comorbidity. 69.3% of patients had controlled seizures. Patients with idiopathic epilepsy were significantly controlled than patients with symptomatic epilepsy (P=0.01), and those using one Anti Epileptic Drug were significantly controlled compared to patients using polytherapy (P=0.0001) there was no significant relation between controlled seizure and duration of illness or hospitalization or EEG changes. Conclusion Seizure types, aetiology, drug therapy, Comorbidities and outcome in a tertiary care hospital in Saudi Arabia are similar to previous local and international studies. 35.3% of patients were hospitalized, higher rates than previous studies. Seizure control was better in generalized seizures and idiopathic epilepsy compared to complex partial seizures or partial seizures with secondary generalization and

Learning and Memory in Children with Epilepsy

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J Gordon Millichap

2003-01-01

Full Text Available The relation between learning and memory and epilepsy in school children with recently diagnosed idiopathic and/or cryptogenic seizures was evaluated at Wilhelmina Children’s Hospital, the Netherlands.

Long-term outcome of medically treated epilepsy.

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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.

Linkage and association analysis of CACNG3 in childhood absence epilepsy

DEFF Research Database (Denmark)

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

2007-01-01

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

Imepitoin withdrawal in dogs with idiopathic epilepsy well-controlled with imepitoin and phenobarbital and/or potassium bromide does not increase seizure frequency.

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Stee, K; Martlé, V; Broeckx, B J G; Royaux, E; Van Ham, L; Bhatti, S F M

2017-12-01

Phenobarbital or potassium bromide (KBr) add-on treatment decreases the average monthly seizure frequency in dogs with idiopathic epilepsy resistant to a maximum dose of imepitoin. The importance of continued administration of imepitoin in these dogs is currently unknown. The goal of this study was to assess whether imepitoin withdrawal would destabilize epileptic seizure control. In this prospective clinical trial epileptic seizure control was evaluated by comparing the monthly seizure frequency of 13 dogs with well-controlled idiopathic epilepsy receiving a combination of imepitoin and phenobarbital (n=4), imepitoin and KBr (n=7), and imepitoin, phenobarbital and KBr (n=2) during a period of 3-6 months (pre-withdrawal period), with a follow-up period of 9-12 months after withdrawal of imepitoin (post-withdrawal period). Adverse effects were also recorded before and after withdrawal of imepitoin. Imepitoin was tapered off over 3 months as follows: 20mg/kg twice daily for 1 month, then 10mg/kg twice daily for 1 month, then once daily for 1 month. Withdrawal of imepitoin did not increase monthly seizure frequency (P=0.9). Moreover, all owners reported improvement in the adverse effects experienced by their dog after withdrawal of imepitoin. Imepitoin withdrawal in epileptic dogs that were well-controlled with imepitoin and phenobarbital and/or KBr did not worsen epileptic seizure control, and possibly decreased antiepileptic treatment-related adverse effects. However, a worsening of seizure frequency could occur in individual cases. Copyright © 2017 Elsevier Ltd. All rights reserved.

The role of SLC2A1 in early onset and childhood absence epilepsies

DEFF Research Database (Denmark)

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

2013-01-01

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

Impaired theory of mind in Chinese children and adolescents with idiopathic generalized epilepsy: Association with behavioral manifestations of executive dysfunction.

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Zhang, Ting; Chen, Lingyan; Wang, Yu; Zhang, Mengmeng; Wang, Lanlan; Xu, Xiangjun; Xiao, Gairong; Chen, Jing; Shen, Yeru; Zhou, Nong

2018-02-01

Epilepsy is a common neurological disorder with a core feature of cognitive impairments. Previous studies showed that patients with focal epilepsy have deficits in both theory of mind (ToM) and executive function (EF). However, there are few studies of ToM in patients with idiopathic generalized epilepsy (IGE), especially in populations with pediatric epilepsy. The aim of this study was to examine the characteristics of ToM and EF, including some of their subcomponents, and explore the relationship between them in Chinese children with IGE. We recruited 54 children and adolescents with IGE as the experimental subjects and 37 typically developing children and adolescents as control subjects. Both groups completed ToM tests, namely, second-order false belief tasks (FBTs) and faux pas tasks (FPTs). Their caregivers completed the Behavior Rating Inventory of Executive Function (BRIEF) at the same time. Children and adolescents with IGE displayed worse performance on some of the FBTs and FPTs than healthy controls (pchildren with newly diagnosed epilepsy displayed significant deficits in FBT, FPT, and distinct subscales of EF. Our results revealed significant impairments in ToM and EF in children and adolescents with IGE compared with healthy controls. We found significant correlations between ToM and two subcomponents of EF (inhibition and working memory) in children with IGE. Additionally, the duration of seizures affected ToM in patients but was a less powerful predictor than the two subcomponents of EF. Even for children with new-onset seizures and without medication, the deficits in ToM and some distinct subscales of EF were apparent. This result has clinical implications for both nonpharmaceutical therapies and cognitive rehabilitation. Copyright © 2017 Elsevier Inc. All rights reserved.

Epilepsy: A Spectrum Disorder

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Sirven, Joseph I.

2015-01-01

Epilepsy, a disorder of unprovoked seizures is a multifaceted disease affecting individuals of all ages with a particular predilection for the very young and old. In addition to seizures, many patients often report cognitive and psychiatric problems associated with both the seizures themselves and its therapy. Epilepsy has numerous etiologies both idiopathic and acquired with a wide range of therapeutic responses. Despite numerous treatments available to control repetitive seizures including medications, diets, immunotherapy, surgery, and neuromodulatory devices, a large percentage of patients continue to suffer the consequences of uncontrolled seizures, which include psychosocial stigma and death. PMID:26328931

Phenobarbital or potassium bromide as an add-on antiepileptic drug for the management of canine idiopathic epilepsy refractory to imepitoin.

Science.gov (United States)

Royaux, E; Van Ham, L; Broeckx, B J G; Van Soens, I; Gielen, I; Deforce, D; Bhatti, S F M

2017-02-01

Imepitoin has recently been approved in Europe for the management of dogs with idiopathic epilepsy. Currently, there is no evidence-based information available on the efficacy of antiepileptic drugs used as additions to the therapeutic regimen in dogs with idiopathic epilepsy that are not well controlled with imepitoin. The goal of this study was to evaluate the efficacy of phenobarbital or potassium bromide (KBr) as add-on antiepileptic drugs for controlling dogs refractory to a maximum dose of imepitoin (30 mg/kg twice daily). The study was performed as a prospective, randomised, controlled clinical trial. The efficacy of phenobarbital and KBr was evaluated by comparing monthly seizure frequency (MSF), monthly seizure day frequency (MSDF), the presence of cluster seizures during a retrospective 2-month period with a prospective follow-up of 6 months, and the overall responder rate. Twenty-seven dogs were included in the study, 14 dogs in the phenobarbital group and 13 dogs in the KBr group. Both median MSF and MSDF decreased in the phenobarbital group (both P = 0.001) and in the KBr group (P = 0.004 and P = 0.003, respectively). Overall, the number of dogs with cluster seizures decreased (P = 0.0005). The responder rate was 79% vs. 69% in the phenobarbital and KBr groups, respectively. We conclude that phenobarbital or KBr add-on treatment decreases median MSF and MSDF in epileptic dogs refractory to a maximum dose of imepitoin. Combination therapy was generally well tolerated and resulted in an improvement in seizure management in the majority of the dogs. Copyright © 2017 Elsevier Ltd. All rights reserved.

CLINICAL AND ELECTROENCEPHALOGRAPHIC CHANGES IN JUVENILE MYOCLONIC EPILEPSY (A LECTURE

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K. Yu. Mukhin

2014-01-01

Full Text Available Juvenile myoclonic epilepsy (JME is a form of idiopathic generalized epilepsy characterized by adolescent onset with massive myoclonicseizures and, in most cases, convulsive seizures occurring mainly on awakening. According to the Proposed Diagnostic Schema for Peoplewith Epileptic Seizures and with Epilepsy (2001, JME is classified into a group of idiopathic generalized epilepsy with a variable phenotype. The authors give the genetic bases of the disease, describe its clinical picture in detail, including the atypical course of JME, and consider diagnostic criteria, approaches to patient management, and principles of medical therapy. By taking into account the most common precipitating factors, along with drug therapy, the sleep and wake regimen must be strictly adhered to and household photo stimulation be avoided. Complete medical remission is achieved in about 90 % of patients (on correctly chosen therapy, in most cases on monotherapy. However, the problem resides in high recurrence rates after withdrawal of antiepileptic drugs. The major predictors of increased risk for a recurrence aftertherapy discontinuation are considered.

Clinical evaluation of a combination therapy of imepitoin with phenobarbital in dogs with refractory idiopathic epilepsy.

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Neßler, Jasmin; Rundfeldt, Chris; Löscher, Wolfgang; Kostic, Draginja; Keefe, Thomas; Tipold, Andrea

2017-01-25

Imepitoin was tested as a combination treatment with phenobarbital in an open-label mono-centre cohort study in dogs with drug-resistant epilepsy. Diagnosis of idiopathic epilepsy was based on clinical findings, magnetic resonance imaging and cerebrospinal fluid analysis. Three cohorts were treated. In cohort A, dogs not responding to phenobarbital with or without established add-on treatment of potassium bromide or levetiracetam were treated add-on with imepitoin, starting at 10 mg/kg BID, with titration allowed to 30 mg/kg BID. In cohort B, the only difference to cohort A was that the starting dose of imepitoin was reduced to 5 mg/kg BID. In cohort C, animals not responding to imepitoin at >20 mg/kg BID were treated with phenobarbital add-on starting at 0.5 mg/kg BID. The add-on treatment resulted in a reduction in monthly seizure frequency (MSF) in all three cohorts. A reduction of ≥50% was obtained in 36-42% of all animals, without significant difference between cohorts. The lower starting dose of 5 mg/kg BID imepitoin was better tolerated, and an up-titration to on average of 15 mg/kg BID was sufficient in cohort A and B. In cohort C, a mean add-on dose of 1.5 mg/kg BID phenobarbital was sufficient to achieve a clinically meaningful effect. Six dogs developed a clinically meaningful increase in MSF of ≥ 50%, mostly in cohort A. Neither imepitoin nor phenobarbital add-on treatment was capable of suppressing cluster seizure activity, making cluster seizure activity an important predictor for drug-resistance. A combination treatment of imepitoin and phenobarbital is a useful treatment option for a subpopulation of dogs with drug-resistant epilepsy, a low starting dose with 5 mg/kg BID is recommended.

Precipitating factors and therapeutic outcome in epilepsy with generalized tonic-clonic seizures.

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Bauer, J; Saher, M S; Burr, W; Elger, C E

2000-10-01

The aim of the study was to evaluate the influence of precipitating factors and therapy on the outcome of epilepsy with generalized tonic-clonic seizures. Retrospective analysis of data from 34 patients (mean age at seizure onset 19 years; mean duration of follow-up 9.2 years) suffering from epilepsy of either cryptogenic or remote symptomatic (n = 19), or idiopathic (n = 15) etiology. The total number of seizures in all patients was 146. Without treatment 97 seizures manifested during 90.5 years without treatment (1.07 seizures/year), during treatment with carbamazepine or valproate 49 seizures occurred within 224 years (0.2 seizures/year). The frequency of seizures was significantly lower during treatment. Precipitating factors were found in relation to 31% of seizures in patients with remote symptomatic or cryptogenic epilepsy, and for 51% of seizures in patients with idiopathic epilepsy. There was a low frequency of seizures in patients with generalized tonic-clonic seizures. Precipitating factors are common. Antiepileptic drug treatment is effective.

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

DEFF Research Database (Denmark)

Rusbridge, Clare; Long, Sam; Jovanovik, Jelena

2015-01-01

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

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.

Idiopathic epilepsy in the Italian Spinone in the United Kingdom: prevalence, clinical characteristics, and predictors of survival and seizure remission.

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De Risio, L; Newton, R; Freeman, J; Shea, A

2015-01-01

There is lack of data on idiopathic epilepsy (IE) in the Italian Spinone (IS). To estimate the prevalence of IE in the IS in the United Kingdom (UK) and to investigate predictors of survival and seizure remission. The target population consisted of 3331 IS born between 2000 and 2011 and registered with the UK Kennel Club (KC). The owners of 1192 dogs returned phase I questionnaire. Sixty-three IS had IE. Population survey. The owners of all UK KC-registered IS were invited to complete the phase I questionnaire. Information from the phase I questionnaire and veterinary medical records was used to identify IS with IE and obtain data on treatment and survival. Additional information was obtained from owners of epileptic IS who completed the phase II questionnaire. The prevalence of IE in the IS in the UK was estimated as 5.3% (95% CI, 4.03-6.57%). Survival time was significantly shorter in IS euthanized because of poorly controlled IE compared with epileptic IS that died of unrelated disorders (P = 0.001). Survival was significantly longer in IS with no cluster seizures (CS) (P = 0.040) and in IS in which antiepileptic medication was initiated after the second seizure rather than after ≥3 seizures (P = 0.044). Seizure remission occurred only in 3 IS. The prevalence of IE in IS (5.3%) is higher than in dogs (0.6%) in the UK. Idiopathic epilepsy in IS has a severe phenotype. Antiepileptic medication initiation after the second seizure and aggressive treatment of CS may improve survival. Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

Idiopathic brain herniation. A report of two paediatric cases.

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Koc, Gonca; Doganay, Selim; Bayram, Ayse Kacar; Gorkem, Sureyya Burcu; Dogan, Mehmet Sait; Per, Huseyin; Coskun, Abdulhakim

2014-10-01

SUMMARY - 'Idiopathic' herniation of the brain is a rare entity previously reported in 13 cases. It may be incidentally encountered in neuroimaging studies acquired for various clinical indications. We herein describe two cases of idiopathic brain herniation that were incidentally diagnosed. A 12-year-old boy presented with a six-month history of daytime sleepiness and sudden spells of sleep. Herniation of the left inferior temporal gyrus was revealed in MRI acquired with the suspicion of epilepsy. His overnight polysomnogram and multiple sleep latency tests were compatible with the diagnosis of narcolepsy. The other case, a two-year-old girl, was transferred from an outside hospital due to partial seizures with the fever. Herniation of the precuneal gyrus was encountered in MRI acquired after controlling her seizures with the initiation of phenytoin. The brain herniations of both patients were considered to be inconsistent with their medical conditions, so that they were symptom-free with only medical treatment for following three and six months, respectively. This is a rare presentation of idiopathic brain herniation as an incidental finding that accompanied narcolepsy and epilepsy. Awareness of this entity would avoid excessive surgical and medical treatments.

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 ...

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

Czech Academy of Sciences Publication Activity Database

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

2006-01-01

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

Single photon emission computed tomography in children with idiopathic seizures

International Nuclear Information System (INIS)

Hara, Masafumi; Takahashi, Mutsumasa; Kojima, Akihiro; Shimomura, Osamu; Kinoshita, Rumi; Tomiguchi, Seiji; Taku, Keiichi; Miike, Teruhisa

1991-01-01

Single photon emission computed tomography (SPECT) with N-isoprophyl-p [ 123 I]-iodoamphetamine (IMP), X-ray computed tomography (X-CT), and magnetic resonance imaging (MRI) were performed in 20 children with idiopathic seizures. In children with idiopathic seizures, SPECT could detect the abnormal sites at the highest rate (45%) compared with CT (10%) and MRI (12%), but the abnormal sites on SPECT correlated poorly with the foci on electroencephalograph (EEG). Idiopathic epilepsy with hypoperfusion on SPECT was refractory to treatment and was frequently associated with mental and/or developmental retardation. Perfusion defects on SPECT scans probably affect the development and maturation of the brain in children. (author)

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

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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.

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)

Positron emission tomography in epilepsy

International Nuclear Information System (INIS)

Gur, R.C.; Gur, R.E.; Sussman, N.M.; Selzer, M.E.

1985-01-01

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

Quality of Life and Fitness in Children and Adolescents with Epilepsy (EpiFit).

Science.gov (United States)

Rauchenzauner, Markus; Hagn, Claudia; Walch, Romana; Baumann, Matthias; Haberlandt, Edda; Frühwirth, Martin; Rostasy, Kevin

2017-06-01

Objective  The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group. Methods  In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group ( n  = 48) and (2) the healthy control group ( n  = 59). Results  HRQoL of children with focal epilepsy was greater when compared with healthy children and children with generalized epilepsy. A significant association could be demonstrated for the 6-minute walk distance and mental wellbeing in children with epilepsy but not in healthy children. Furthermore, a negative correlation between the HRQoL and the amount of time spent in front of TV and computer in children with epilepsy and healthy children was seen. In children with focal epilepsy, a significant negative correlation could be shown between school sport and mental wellbeing as well as between school sport and self-esteem. Conclusion  HRQoL in children with idiopathic epilepsy is significantly associated with physical fitness and might be positively influenced by an adequate education of patients and parents, a reduction of consumption of computer and TV in combination with age- and disease-adapted physical activity and sports. Georg Thieme Verlag KG Stuttgart · New York.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

DEFF Research Database (Denmark)

Dibbens, Leanne M; Mullen, Saul; Helbig, Ingo

2009-01-01

Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We...... then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays...... and confirmed by array comparative genomic hybridization analysis using probes specific to the 15q13.3 region. The inheritance of this lesion was tracked using family studies. Of the seven microdeletions identified in probands, three were de novo, two were transmitted from an unaffected parent and in two cases...

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

DEFF Research Database (Denmark)

Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien

2014-01-01

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q1...

Analytic information processing style in epilepsy patients.

Science.gov (United States)

Buonfiglio, Marzia; Di Sabato, Francesco; Mandillo, Silvia; Albini, Mariarita; Di Bonaventura, Carlo; Giallonardo, Annateresa; Avanzini, Giuliano

2017-08-01

Relevant to the study of epileptogenesis is learning processing, given the pivotal role that neuroplasticity assumes in both mechanisms. Recently, evoked potential analyses showed a link between analytic cognitive style and altered neural excitability in both migraine and healthy subjects, regardless of cognitive impairment or psychological disorders. In this study we evaluated analytic/global and visual/auditory perceptual dimensions of cognitive style in patients with epilepsy. Twenty-five cryptogenic temporal lobe epilepsy (TLE) patients matched with 25 idiopathic generalized epilepsy (IGE) sufferers and 25 healthy volunteers were recruited and participated in three cognitive style tests: "Sternberg-Wagner Self-Assessment Inventory", the C. Cornoldi test series called AMOS, and the Mariani Learning style Questionnaire. Our results demonstrate a significant association between analytic cognitive style and both IGE and TLE and respectively a predominant auditory and visual analytic style (ANOVA: p values <0,0001). These findings should encourage further research to investigate information processing style and its neurophysiological correlates in epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

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.

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

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

Science.gov (United States)

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

2016-05-01

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

A cohort study of epilepsy among 665,000 insured dogs

DEFF Research Database (Denmark)

Heske, L.; Nødtvedt, A.; Jäderlund, K. Hultin

2014-01-01

The main objective of this study was to estimate the incidence and mortality rates of epilepsy in a large population of insured dogs and to evaluate the importance of a variety of risk factors. Survival time after a diagnosis of epilepsy was also investigated. The Swedish animal insurance database...... used in this study has previously been helpful in canine epidemiological investigations. More than 2,000,000 dog-years at-risk (DYAR) were available in the insurance database. In total, 5013 dogs had at least one veterinary care claim for epilepsy, and 2327 dogs were euthanased or died because...... of epilepsy. Based on veterinary care claims the incidence rate of epilepsy (including both idiopathic and symptomatic cases) was estimated to be 18 per 10,000 DYAR. Dogs were followed up until they were 10 (for life insurance claims) or 12 years of age (veterinary care claims). Among the 35 most common...

Investigation of GRIN2A in common epilepsy phenotypes

NARCIS (Netherlands)

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

2015-01-01

Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A

CTA/V detection of bilateral sigmoid sinus dehiscence and suspected idiopathic intracranial hypertension in unilateral pulsatile tinnitus

International Nuclear Information System (INIS)

Xu, Shuaishuai; Xu, Jianrong; Ruan, Shidong; Liu, Shanfeng; Gong, Ruozhen

2018-01-01

This aimed to evaluate the prevalence and extent of bilateral sigmoid sinus dehiscence (SSD) and to explore the presence of idiopathic intracranial hypertension (IIH) in patients with unilateral pulsatile tinnitus (PT) with CTA/V. Sixty PT patients (52 females; 40.4 ± 11.6 years [20-72]) who underwent CTA/V and 30 non-PT patients (27 females; 38.4 ± 14.7 years [12-62]) were enrolled in this study. The primary outcome measure was the radiographic presence of SSD. The index of transverse sinus stenosis (ITSS) was obtained by multiplying the stenosis scale values for each transverse sinus, and once was ≥ 4, the presence of IIH was suspected. The prevalence and extent of SSD on symptomatic side (78%; maximum transverse diameter, MTD 0.49 ± 0.23; maximum vertical diameter, MVD 0.50 ± 0.26 cm) were significantly higher and larger than those on asymptomatic side (50%, P < 0.001; MTD 0.35 ± 0.18, P = 0.006; MVD 0.30 ± 0.15 cm, P < 0.001) in the study group and those (20%, P < 0.001; MTD 0.36 ± 0.18, P = 0.073; MVD 0.30 ± 0.22 cm, P < 0.048) in the control group. The presence of SSD showed significant correlation with both PT (logistic regression analysis, OR 4.167 [1.450-11.97]; P = 0.008) and suspected IIH (OR 16.25 [1.893-139.5]; P = 0.011). In PT patients, SSD has a significant correlation with PT and a potential correlation with IIH. (orig.)

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

High Frequency of a Single Nucleotide Substitution (c.-6-180T>G) of the Canine MDR1/ABCB1 Gene Associated with Phenobarbital-Resistant Idiopathic Epilepsy in Border Collie Dogs

OpenAIRE

Mizukami, Keijiro; Yabuki, Akira; Chang, Hye-Sook; Uddin, Mohammad Mejbah; Rahman, Mohammad Mahbubur; Kushida, Kazuya; Kohyama, Moeko; Yamato, Osamu

2013-01-01

A single nucleotide substitution (c.-6-180T>G) associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene in Border Collies with idiopathic epilepsy. In the present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and a genotyping survey was carried out in a population of 472 Border Collies in Japan to determine the current allele frequency. The survey demonstrated the frequencies of the T/T wild type...

Resting-state connectivity of the sustained attention network correlates with disease duration in idiopathic generalized epilepsy.

Directory of Open Access Journals (Sweden)

Mona Maneshi

Full Text Available INTRODUCTION: In idiopathic generalized epilepsy (IGE, a normal electroencephalogram between generalized spike and wave (GSW discharges is believed to reflect normal brain function. However, some studies indicate that even excluding GSW-related errors, IGE patients perform poorly on sustained attention task, the deficit being worse as a function of disease duration. We hypothesized that at least in a subset of structures which are normally involved in sustained attention, resting-state functional connectivity (FC is different in IGE patients compared to controls and that some of the changes are related to disease duration. METHOD: Seeds were selected based on a sustained attention study in controls. Resting-state functional magnetic resonance imaging (fMRI data was obtained from 14 IGE patients and 14 matched controls. After physiological noise removal, the mean time-series of each seed was used as a regressor in a general linear model to detect regions that showed correlation with the seed. In patients, duration factor was defined based on epilepsy duration. Between-group differences weighted by the duration factor were evaluated with mixed-effects model. Correlation was then evaluated in IGE patients between the FC, averaged over each significant cluster, and the duration factor. RESULTS: Eight of 18 seeds showed significant difference in FC across groups. However, only for seeds in the medial superior frontal and precentral gyri and in the medial prefrontal area, average FC taken over significant clusters showed high correlation with the duration factor. These 3 seeds showed changes in FC respectively with the premotor and superior frontal gyrus, the dorsal premotor, and the supplementary motor area plus precentral gyrus. CONCLUSION: Alterations of FC in IGE patients are not limited to the frontal areas. However, as indicated by specificity analysis, patients with long history of disease show changes in FC mainly within the frontal areas.

Investigation of GRIN2A> in common epilepsy phenotypes

DEFF Research Database (Denmark)

Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian

2015-01-01

Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A muta...

High frequency of a single nucleotide substitution (c.-6-180T>G) of the canine MDR1/ABCB1 gene associated with phenobarbital-resistant idiopathic epilepsy in Border Collie dogs.

Science.gov (United States)

Mizukami, Keijiro; Yabuki, Akira; Chang, Hye-Sook; Uddin, Mohammad Mejbah; Rahman, Mohammad Mahbubur; Kushida, Kazuya; Kohyama, Moeko; Yamato, Osamu

2013-01-01

A single nucleotide substitution (c.-6-180T>G) associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene in Border Collies with idiopathic epilepsy. In the present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and a genotyping survey was carried out in a population of 472 Border Collies in Japan to determine the current allele frequency. The survey demonstrated the frequencies of the T/T wild type, T/G heterozygote, and G/G mutant homozygote to be 60.0%, 30.3%, and 9.8%, respectively, indicating that the frequency of the mutant G allele is extremely high (24.9%) in Border Collies. The results suggest that this high mutation frequency of the mutation is likely to cause a high prevalence of phenobarbital-resistant epilepsy in Border Collies.

Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.

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Martins, H H; Alonso, N B; Vidal-Dourado, M; Carbonel, T D; de Araújo Filho, G M; Caboclo, L O; Yacubian, E M; Guilhoto, L M

2011-11-01

We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on a stable antiepileptic drug (AED) regimen and being treated in a Brazilian tertiary epilepsy center. Carbamazepine was the most commonly used AED (43.0%), followed by valproic acid (32.0%). Two or more AEDs were used by 69.0% of patients. The mean LAEP score (19 questions) was 37.6 (SD=13.35). The most common adverse effects were sleepiness (35.0%), memory problems (35.0%), and difficulty in concentrating (25.0%). Higher LAEP scores were associated with polytherapy with three or more AEDs (P=0.005), female gender (P0.001) and Hospital Anxiety and Depression Scale (Depression: r=0.637, P<0.001; Anxiety: r=0.621, P<0.001) dimensions. LAEP overall scores were similar in people with SPE and IGE and were not helpful in differentiating adverse effects in these two groups. Clinical variables that influenced global LAEP were seizure frequency (P=0.050) and generalized tonic-clonic seizures in the last month (P=0.031) in the IGE group, and polytherapy with three or more AEDs (P=0.003 and P=0.003) in both IGE and SPE groups. Copyright © 2011 Elsevier Inc. All rights reserved.

Idiopathic intracranial hypertension

DEFF Research Database (Denmark)

Yri, Hanne M; Jensen, Rigmor H

2015-01-01

AIMS: The aims of this article are to characterize the headache in idiopathic intracranial hypertension (IIH) and to field-test the ICHD diagnostic criteria for headache attributed to IIH. MATERIALS AND METHODS: We included 44 patients with new-onset IIH. Thirty-four patients with suspected but u...... tinnitus may suggest intracranial hypertension. Based on data from a well-defined IIH cohort, we propose a revision of the ICDH-3 beta diagnostic criteria with improved clinical applicability and increased sensitivity and specificity....

Seizure precipitants (triggering factors) in patients with epilepsy.

Science.gov (United States)

Ferlisi, Monica; Shorvon, Simon

2014-04-01

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

High Frequency of a Single Nucleotide Substitution (c.-6-180T>G of the Canine MDR1/ABCB1 Gene Associated with Phenobarbital-Resistant Idiopathic Epilepsy in Border Collie Dogs

Directory of Open Access Journals (Sweden)

Keijiro Mizukami

2013-01-01

Full Text Available A single nucleotide substitution (c.-6-180T>G associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene in Border Collies with idiopathic epilepsy. In the present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and a genotyping survey was carried out in a population of 472 Border Collies in Japan to determine the current allele frequency. The survey demonstrated the frequencies of the T/T wild type, T/G heterozygote, and G/G mutant homozygote to be 60.0%, 30.3%, and 9.8%, respectively, indicating that the frequency of the mutant G allele is extremely high (24.9% in Border Collies. The results suggest that this high mutation frequency of the mutation is likely to cause a high prevalence of phenobarbital-resistant epilepsy in Border Collies.

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

Science.gov (United States)

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

2009-07-01

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

PECULIARITIES OF TREATMENT OF EPILEPSY AT GIRLS AND WOMEN

Directory of Open Access Journals (Sweden)

O. A. Pylaeva

2015-01-01

Full Text Available The epilepsy treatment is to be based on existing general principles and standards of therapy with differential approach to each patient. Besides peculiarities of treatment of different types of seizures and forms of epilepsy there are also differential approaches to special groups of patients. To one of such groups are referred to women of reproductive age. These patients are referred to special group of risk due to the development of certain side effects of antiepileptic drugs (АED. This article focuses in details on peculiarities of treatment of women of reproductive age with epilepsy with accent made on tolerability and safety of the antiepileptic therapy. It is necessary to take into consideration, that at women neuroendocrinal disorders can be caused both by the disease itself – epilepsy (in such case disorders depend on the starting age, form of epilepsy, focal localization, duration of disorder and other factors, referred to the disease, as well as by the undertaken therapy. The articlehereunder considers only issues, referred to the treatment, i. e. AED side effects and its input in the decrease of life quality of women with epilepsy. As women’s reproductive function starts forming long ago before childbearing age, it is necessary for this category to comprise not only women and adolescents, but girls as well. Notwithstanding the fact that so called benign forms of epilepsy pass before the pubescence period (idiopathic focal epilepsies, several forms of idiopathic generalized epilepsy, in many cases the epilepsy, which has started in childhood, continues in the adult age as well. In the same time there can be possible remote negative consequences of the antiepileptic therapy, which can show at a woman of a reproductive age. The data, given in the article, witnesses the need of the right AED selection at women of reproductive age, suffering from epilepsy. The AED should be selected not only depending on the form of the

Rolandic epilepsy and dyslexia

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Ecila P. Oliveira

2014-11-01

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

Etiologic features and utilization of antiepileptic drugs in people with chronic epilepsy in China: Report from the Epilepsy Cohort of Huashan Hospital (ECoH).

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Ge, Yan; Yu, Peimin; Ding, Ding; Wang, Ping; Shi, Yunbo; Zhao, Ting; Tang, Xinghua; Hong, Zhen

2015-10-01

Chronic epilepsy is estimated to affect more than 2 million people in China. However, data of its clinical characteristics was rarely reported in China. In the present study, we summarized the etiologic features and utilization patterns of antiepileptic drugs (AEDs) in people with chronic epilepsy in a tertiary medical center in China. We prospectively recruited people with chronic epilepsy treated at the Epilepsy Outpatient Clinic of Huashan Hospital during October 2009 to August 2013. Demographic data, clinical characteristics, AED treatment, epilepsy-associated risk factors and medical history, and results of supplementary examinations of each participant were collected retrospectively via an interviewer-administered questionnaire and confirmed by the medical records. Among 554 people with chronic epilepsy, 58.0% of them were male, 66.8% had focal seizure, and 29.2% had symptomatic cause. Developmental anomalies of cerebral structure (16.7%) and cerebral trauma (16.7%) shared the leading cause of symptomatic epilepsy among children with epilepsy. While cerebral trauma (29.1%) and cerebrovascular disorder (36.4%) were the most common causes in groups of adults and elderly. Fifty percent of participants were taking AED monotherapy. Proportions of people with idiopathic, cryptogenic and symptomatic epilepsy treated by multitherapy were 35%, 46% and 45.6%, respectively. Valproic acid (VPA) was the most frequently utilized AED as monotherapy (32.7%) and within multitherapy (62.5%). This hospital-based study reported that etiologic features were diverse in different age groups of people with chronic epilepsy. VPA was widely utilized to treat chronic epilepsy in mainland China. Copyright © 2015 Elsevier B.V. All rights reserved.

123I-IMP single photon emission computed tomography (SPECT) study in childhood epilepsy

International Nuclear Information System (INIS)

Hara, Masafumi; Shimomura, Osamu; Kojima, Akihiro; Izunaga, Hiroshi; Tomiguchi, Seiji; Hirota, Yoshihisa; Taku, Keiichi; Miike, Teruhisa; Takahashi, Mutsumasa

1990-01-01

N-isopropyl-p[ 123 I]-iodoamphetamine (IMP) single photon emission computed tomography (SPECT), X-ray computed tomography (X-CT) and magnetic resonance imaging (MRI) were performed in 18 children with idiopathic seizures. In children with idiopathic seizures SPECT identified abnormal lesions in the highest rate (50%) compared with X-CT (11%) and MRI (13%), but the findings of SPECT poorly correlated with the foci on electroencephalography (EEG). Idiopathic epilepsy with abnormal uptake on SPECT was refractory to medical treatments and frequently associated with mental and/or developmental retardation. Perfusion defects identified on SPECT probably influenced the development of the brains in children. IMP SPECT is useful in the diagnosis and medical treatment in children with seizures. (author)

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

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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.

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.

Seizure-related injuries in children and adolescents with epilepsy.

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Lagunju, IkeOluwa A; Oyinlade, Alexander O; Babatunde, Olubusayo D

2016-01-01

Children with epilepsy are reported to be at a greater risk of injuries compared with their peers who do not have epilepsy. We set out to determine the frequency and pattern of seizure-related injuries in children with epilepsy seen at the University College Hospital (UCH), Ibadan, Nigeria. Consecutive cases of epilepsy seen at the pediatric neurology clinic of the UCH, Ibadan over a period of 6months were evaluated for injuries in the preceding 12months using a structured questionnaire. These were compared with age- and sex-matched controls. A total of 125 children with epilepsy and 125 age- and sex-matched controls were studied. Injuries occurred more frequently in children with epilepsy than in their peers (p=0.01, OR 1.935, 95% CI 1.142-3.280). Epilepsy was generalized in 80 (64.0%), and localization-related in 45 (36.0%). Idiopathic epilepsy accounted for 74 (59.2%), and the remaining 51 (40.8%) had remote symptomatic epilepsy. Fifty-seven (45.6%) children had suffered seizure-related injuries with multiple injuries in 31 (24.8%). The most frequent were skin/soft tissue lacerations (26.4%), injuries to the tongue and soft tissues of the mouth (19.2%), minor head injuries (15.2%), and dental injuries with tooth loss (8.0%). There was a statistically significant association between seizure frequency and seizure-related injuries (p=0.002). Children on polytherapy had a significantly higher frequency of seizure-related injuries (pEpilepsy is a major risk factor for injuries in childhood. High seizure frequency increases the risk of multiple injuries in children with epilepsy. Copyright © 2015 Elsevier Inc. All rights reserved.

PREVALENCE OF CELIAC DISEASE IN CHILDREN WITH EPILEPSY

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Camilo VIEIRA

2013-12-01

Full Text Available Context Neurological symptoms have been well-documented in patients with celiac disease, nevertheless, the presumption of a greater prevalence of epilepsy in celiac patients remains controversial. Objectives To determine the frequency of celiac disease in children and adolescents with idiopathic or cryptogenic epilepsy. Methods A cross-sectional study. One hundred pediatric patients with non-symptomatic epilepsy were followed-up at two public pediatric neurology clinics in Salvador, Bahia, Brazil. Screening for celiac disease was performed by serial measurements of IgA anti-transglutaminase and IgA anti-endomysium antibodies, followed by bowel biopsy in positive cases. HLA DQ02 and DQ08 were investigated in seropositive individuals, assessing the type of seizures, the number of antiepileptic drugs used and the presence gastrointestinal symptoms. Results Three (3.0% patients tested anti-tTG-positive, two with normal duodenal mucosa (Marsh 0 and one with intraepithelial infiltrate (Marsh I. No villous atrophy of the duodenal mucosa (Marsh III celiac disease was found. Two patients tested positive for HLA DQ02; none were DQ08 positive. Conclusion The present study failed to prove the association between celiac disease and epilepsy.

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

[Epilepsy and epileptic syndromes during the first year of life].

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Durá-Travé, T; Yoldi-Petri, M E; Hualde-Olascoaga, J; Etayo-Etayo, V

To analyse the epidemiological characteristics and the relative distribution of the different types of epilepsy and epileptic syndromes during the first year of life. An analysis was performed of the patient records of all patients with epilepsy diagnosed during their first year of life who were submitted to a developmental check-up in the year 2007. The sample consisted of 60 patients (27 boys and 33 girls). Epidemiological and clinical data were collected, together with the findings from complementary examinations. The diagnostic criteria applied were those of the International League Against Epilepsy. The mean age at the time of diagnosis was 6.3 months. The mean follow-up time was 7.6 years. The aetiology was symptomatic in 40 cases (66.7%), cryptogenic in 16 (26.7%) and idiopathic in four cases (6.7%). Neuroimaging tests detected abnormalities in 34 patients (56.7%). West's syndrome (30%), symptomatic focal epilepsies (23.3%) and epilepsies linked to specific syndromes (16.7%) were the epileptic syndromes with the highest prevalence. Learning disabilities were observed in 82.5% of the children. Most epilepsies that present during the first year of life are symptomatic and/or cryptogenic, and are accompanied by psychoneurological impairment and/or resistance to therapy, which condition cognitive disorders that are eligible for specialised psycho-pedagogical intervention.

History of epilepsy: nosological concepts and classification.

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Wolf, Peter

2014-09-01

The purpose of this review is to provide insight into the development of the nosological views of the epilepsies, from prehistoric times to the present, and highlight how these views are reflected by terminology and classification. Even the earliest written documents reveal awareness that there are multiple forms of epilepsy, and it is surprising that they should be included under the same disease concept, perhaps because the generalised tonic-clonic seizure served as a common denominator. The Hippocratic doctrine that the seat of epilepsy is in the brain may be rooted in earlier knowledge of traumatic seizures. Galenus differentiated cases where the brain was the primary site of origin from others where epilepsy was concomitant with illness in other parts of the body. This laid the fundament for the distinction between idiopathic and symptomatic epilepsies, the definition of which changed considerably over time. The description of the multiple seizure types as they are known at present started in the late 18th century. Attempts to classify seizure types began in the late 19th century, when Jackson formulated a comprehensive pathophysiological definition of epilepsy. Electroencephalography supported a second dichotomy, between seizures with localised onset and others with immediate involvement of both hemispheres which became known as "generalised". In recent years, advanced methods of studying brain function in vivo, including the generation of both spontaneous and reflex epileptic seizures, have revolutionised our understanding of focal and "generalised" human ictogenesis. Both involve complex neuronal networks which are currently being investigated.

Concurrence of myotonic dystrophy and epilepsy: a case report

OpenAIRE

Worku, Dawit Kibru

2014-01-01

Introduction Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. Case presentation A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for idiopathic generalized epilepsy for over 15 years. A needle electromyography showed insertional class...

Mental health of children and adolescents with epilepsy: analysis of clinical and neuropsichological aspects

Directory of Open Access Journals (Sweden)

Fernanda de Souza Moreira

2014-08-01

Full Text Available Epilepsy compromises the development of cognitive and social skills and represents a risk of psychiatric comorbidity. Objective: To compare psychopathological symptoms in children with epilepsy and in a healthy group, and to correlate the results with neuropsychological and clinical variables. Method: Forty five children with idiopathic epilepsy and sixty five healthy controls underwent neuropsychological evaluation and their caregivers replied to a psychopathology questionnaire (Child Behavior Checklist – CBCL. Results: There were significant differences in CBCL, with poorer results showed mainly by patients with epilepsy. There was no significant association between any psychopathological symptom and disease duration or amount of antiepileptic drugs used. There was positive correlation between intelligence quocient and CBCL on items such as sluggish cognitive tempo, aggressive behavior, attention problems and activities and a negative relation between academic achievement, conduct and rule-breaking behavior. Conclusion: Children with epilepsy had the worse results in the psychopathology evaluation. Certain psychopathological variables are related to the cognitive profile, with no relation to clinical variables.

Idiopathic granulomatous mastitis

International Nuclear Information System (INIS)

Ozturk, E.; Akin, M.; Can, Mehmet F.; Ozrehan, I.; Yagci, G.; Tufan, T.; Kurt, B.

2009-01-01

Objective was to discuss the clinical and radiological features and treatment approaches in 14 patients diagnosed with idiopathic granulomatous mastitis (GM). We retrospectively evaluated the clinical features, radiological findings and treatment approaches in 14 patients with idiopathic GM in the General Surgery Department, Gulhane School of Medicine, Ankara, Turkey between April 2000 and June 2006. The mean age of the patients was 34.5 years (range 27-41 years). The complaints at admission were a mass in the breast in 7 (50%) patients, an abscess and a mass in 6 (42.8%) and a skin fisculain one (7.2%). Granulomatous mastitis was unilateral in all subjects (on the right in 5 patients and on the left in 9). All of the patients underwent ultrasonographic evaluation. Mammography was performed in 8 and magnetic resonance imaging in 5 patients. Seven patients (50%) were suspected to have breast carcinoma according radiological findings. We performed the large excision in 11, incisional biopsy plus abscess drainage in one, and incisional biopsy plus abscess drainage plus medical treatment (prednisolone, methotrexate) in 2 patients. Due to the development of abscess after 9 months, drainage and large excision were performed in one patient who received medical treatment. Idiopathic GM is a disease that generally affects young women of reproductive age and may be mistaken for breast carcinoma in clinical and radiological evaluations. The gold standard for the diagnosis is histopathologic evaluation. (author)

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

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

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

2017-01-01

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

Historical documents on epilepsy: From antiquity through the 20th century.

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Panteliadis, Christos P; Vassilyadi, Photios; Fehlert, Julia; Hagel, Christian

2017-06-01

Historical documents dating back almost 4500years have alluded to the condition of epilepsy, describing signs and symptoms that are well-known today. Epilepsy was thought to be a mystical disorder by almost all Ancient cultures, including the Babylonians, Egyptians, Greeks, Indians, Iranians and Chinese. Hippocrates was the first to de-mystify the condition of epilepsy, providing a more scientific approach to the condition. As the signs and symptoms of epilepsy occurred without an obvious cause, the idea stood that it was a mystical phenomenon of divine punishment. This portrayal persisted through the early centuries of the common era, including the Middle Ages. It was not until the 16th and 17th century that Paracelsus, le Pois and Sylvius started to investigate internal causes for epilepsy. By the beginning of the 18th century, the general opinion on epilepsy was that it was an idiopathic disease residing in the brain and other inner organs. This resulted in Tissot writing the first modern book on epilepsy. Research continued in the 19th century with Jackson describing different types of seizures and many researchers showing interest in electroencephalography (EEG). The 20th century saw more detailed research being done on epilepsy and EEG, in addition to the establishment of many epilepsy-associated medical societies. The goal of this historical documentation is to provide an overview of the most important milestones in the history of epilepsy. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

SUDEP and other causes of mortality in childhood-onset epilepsy.

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Sillanpää, Matti; Shinnar, Shlomo

2013-08-01

There are few prospective studies on the causes of mortality in well-characterized cohorts with epilepsy and even fewer that have autopsy data that allow for reliable determination of SUDEP. We report causes of mortality and mortality rates in the Finnish cohort with childhood-onset epilepsy. A population-based cohort of 245 children with epilepsy in 1964 has been prospectively followed for almost 40 years. Seizure outcomes and mortality were assessed. Autopsy data were available in 70% of the cases. Sudden unexpected death in epilepsy (SUDEP) rates were assessed, and SUDEP was confirmed by autopsy. During the follow-up, 60 subjects died. The major risk factor for mortality was lack of terminal remission (p epilepsy-related including SUDEP in 23/60 (38%) using the Nashef criteria, status epilepticus in 4/60 (7%), and accidental drowning in 6/60 (10%). The nonepilepsy-related deaths occurred primarily in the remote symptomatic group and were often related to the underlying disorder or to medical comorbidities that developed after the onset of the epilepsy. Risk factors for SUDEP on multivariable analysis included lack of 5-year terminal remission and not having a localization-related epilepsy. In cryptogenic/idiopathic cases, SUDEP did not occur in childhood but begins only in adolescence. Childhood-onset epilepsy is associated with a substantial risk of epilepsy-related mortality, primarily SUDEP. In otherwise neurologically normal individuals, the increased SUDEP risk begins in adolescence. The higher mortality rates reported in this cohort are related to duration of follow-up as most of the mortality occurs many years after the onset of the epilepsy. Copyright © 2013 Elsevier Inc. All rights reserved.

Idiopathic noncirrhotic portal hypertension: current perspectives.

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Riggio, Oliviero; Gioia, Stefania; Pentassuglio, Ilaria; Nicoletti, Valeria; Valente, Michele; d'Amati, Giulia

2016-01-01

The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe patients with a hepatic presinusoidal cause of portal hypertension of unknown etiology, characterized by features of portal hypertension (esophageal varices, nonmalignant ascites, porto-venous collaterals), splenomegaly, patent portal, and hepatic veins and no clinical and histological signs of cirrhosis. Physicians should learn to look for this condition in a number of clinical settings, including cryptogenic cirrhosis, a disease known to be associated with INCPH, drug administration, and even chronic alterations in liver function tests. Once INCPH is clinically suspected, liver histology becomes mandatory for the correct diagnosis. However, pathologists should be familiar with the histological features of INCPH, especially in cases in which histology is not only requested to exclude liver cirrhosis.

Sleep disturbances in children with epilepsy compared with their nearest-aged siblings.

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Wirrell, Elaine; Blackman, Marlene; Barlow, Karen; Mah, Jean; Hamiwka, Lorie

2005-11-01

The aim of the study was to compare sleep patterns in children with epilepsy with those of their non-epileptic siblings and to determine which epilepsy-specific factors predict greater sleep disturbance. We conducted a case-control study of 55 children with epilepsy (mean age 10y, range 4 to 16y; 27 males, 28 females) and their nearest-aged non-epileptic sibling (mean age 10y, range 4 to 18y; 26 males, 29 females). Epilepsy was idiopathic generalized in eight children (15%), symptomatic generalized in seven (13%), and focal in 40 (73%); the mean duration was 5 years 8 months. Parents or caregivers completed the Sleep Behavior Questionnaire (SBQ) and Child Behavior Checklist (CBCL) for patients and controls, and the Quality of Life in Childhood Epilepsy (QOLCE) for patients. Patients had a higher (more adverse) Total Sleep score (p<0.001) and scored worse than controls on nearly all subscales of the SBQ. In patients, higher Total Sleep scores were correlated with higher scores on the Withdrawn, Somatic complaints, Social problems, and Attention subscales of the CBCL, and significantly lower Total Quality of Life Scores. Refractory epilepsy, mental retardation, and remote symptomatic etiology predicted greater sleep problems in those with epilepsy. We conclude that children with epilepsy in this current study had significantly greater sleep problems than their non-epileptic siblings.

Epilepsy in autism: A pathophysiological consideration.

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Nomura, Yoshiko; Nagao, Yuri; Kimura, Kazue; Hachimori, Kei; Segawa, Masaya

2010-11-01

Eighty cases of idiopathic autism with epilepsy and 97 cases without epilepsy were studied to evaluate the pathophysiology of epilepsy in autism. The initial visit to this clinic ranged 8months-30years 3months of age, and the current ages are 5years 8months-42years 3months, 60% reaching to over 30years of age. The average follow up duration is 22.2years±9.4years. The ages of onset of epilepsy were from 7months to 30years of age, with the two peaks at 3.2years and 16.7years. EEG central focus appeared earlier than frontal focus. Abnormality of locomotion and atonic NREM were observed more frequently in epileptic group. These suggest the neuronal system related to abnormality of locomotion and atonic NREM, which are the hypofunction of the brainstem monoaminergic system, is the pathomechanism underling the epilepsy in autism. By showing the abnormal sleep-wake rhythm and locomotion being the very initial symptoms in autism, we had shown the hypofunction of the brainstem monoaminergic system is the initial pathomechanism of autism. Thus, epilepsy in autism is not the secondary manifestation, but one of the pathognomonic symptoms of autism. The brainstem monoaminergic system project to the wider cortical area, and the initial monoaminergic hypofunction may lead to the central focus which appears earlier. The failure of the monoaminergic (serotonergic) system causes dysfunction of the pedunculo-pontine nucleus (PPN) and induces dysfunction of the dopamine (DA) system, and with development of the DA receptor supersensitivity consequently disinhibits the thalamo-frontal pathway, which after maturation of this pathway in teens cause the epileptogenesis in the frontal cortex. Copyright © 2010 Elsevier B.V. All rights reserved.

Amygdala enlargement: Temporal lobe epilepsy subtype or nonspecific finding?

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Reyes, Anny; Thesen, Thomas; Kuzniecky, Ruben; Devinsky, Orrin; McDonald, Carrie R; Jackson, Graeme D; Vaughan, David N; Blackmon, Karen

2017-05-01

Amygdala enlargement (AE) is observed in patients with temporal lobe epilepsy (TLE), which has led to the suggestion that it represents a distinct TLE subtype; however, it is unclear whether AE is found at similar rates in other epilepsy syndromes or in healthy controls, which would limit its value as a marker for focal epileptogenicity. We compared rates of AE, defined quantitatively from high-resolution T1-weighted MRI, in a large multi-site sample of 136 patients with nonlesional localization related epilepsy (LRE), including TLE and extratemporal (exTLE) focal epilepsy, 34 patients with idiopathic generalized epilepsy (IGE), and 233 healthy controls (HCs). AE was found in all groups including HCs; however, the rate of AE was higher in LRE (18.4%) than in IGE (5.9%) and HCs (6.4%). Patients with unilateral LRE were further evaluated to compare rates of concordant ipsilateral AE in TLE and exTLE, with the hypothesis that rates of ipsilateral AE would be higher in TLE. Although ipsilateral AE was higher in TLE (19.4%) than exTLE (10.5%), this difference was not significant. Furthermore, among the 25 patients with unilateral LRE and AE, 13 (52%) had either bilateral AE or AE contralateral to seizure onset. Results suggest that AE, as defined with MRI volumetry, may represent an associated feature of nonlesional localization related epilepsy with limited seizure onset localization value. Copyright © 2017 Elsevier B.V. All rights reserved.

Psychosocial, demographic, and treatment-seeking strategic behavior, including faith healing practices, among patients with epilepsy in northwest India.

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Pal, Surender Kumar; Sharma, Krishan; Prabhakar, Sudesh; Pathak, Ashis

2008-08-01

The data on sociocultural, demographic, and psychosocial aspects and types of treatment strategies adopted by families of patients with epilepsy in northwestern India were collected by the interview schedule method from 400 patients (200 idiopathic and 200 symptomatic) at the outpatient department of the Neurology and Epilepsy Clinic of the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. Epilepsy was classified as idiopathic or symptomatic on the basis of clinical tests (EEG, CT scan, and MRI). It was observed that socioeconomic factors had no bearing on epilepsy in the present sample. Early onset, that is, before 20 years of age, reduced the chances of patients' finding a spouse among those who disclosed the disease information, thereby impacting the nuptial and fertility rates of patients with epilepsy. The present sample of patients was well informed about and sensitized to the efficacy of the modern system of medicine, as 80% of patients sought medical treatment on the very same day as or within a week of onset of seizures. The data were compatible with the framed hypothesis that well-being and safety of the patient would override the stigma burden factor, as 94% of the affected families made no attempt to hide the disease from their neighbors, friends, and colleagues, and teachers of the affected patients. Surprisingly, only 7.5% of the families admitted that they consulted a faith healer. Families did adopt some culturally prevalent methods to control involuntary movements during seizures. It can be concluded that trust in faith healers exists strongly as an undercurrent, but is not overtly admitted by the majority of patients. Some families concurrently visited modern hospitals and occult healers seeking a cure for the disease. The fear of having a child with epilepsy or other abnormalities discouraged married patients from becoming pregnant after developing epilepsy.

Usefulness of a simple sleep-deprived EEG protocol for epilepsy diagnosis in de novo subjects.

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Giorgi, Filippo S; Perini, Daria; Maestri, Michelangelo; Guida, Melania; Pizzanelli, Chiara; Caserta, Anna; Iudice, Alfonso; Bonanni, Enrica

2013-11-01

In case series concerning the role of EEG after sleep deprivation (SD-EEG) in epilepsy, patients' features and protocols vary dramatically from one report to another. In this study, we assessed the usefulness of a simple SD-EEG method in well characterized patients. Among the 963 adult subjects submitted to SD-EEG at our Center, in the period 2003-2010, we retrospectively selected for analysis only those: (1) evaluated for suspected epileptic seizures; (2) with a normal/non-specific baseline EEG; (3) still drug-free at the time of SD-EEG; (4) with an MRI analysis; (5) with at least 1 year follow-up. SD-EEG consisted in SD from 2:00 AM and laboratory EEG from 8:00 AM to 10:30 AM. We analyzed epileptic interictal abnormalities (IIAs) and their correlations with patients' features. Epilepsy was confirmed in 131 patients. SD-EEG showed IIAs in 41.2% of all patients with epilepsy, and a 91.1% specificity for epilepsy diagnosis; IIAs types observed during SD-EEG are different in generalized versus focal epilepsies; for focal epilepsies, the IIAs yield in SD-EEG is higher than in second routine EEG. This simple SD-EEG protocol is very useful in de novo patients with suspected seizures. This study sheds new light on the role of SD-EEG in specific epilepsy populations. Copyright © 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Usefulness of PET in non-lesional temporal lobe epilepsy

International Nuclear Information System (INIS)

Bertuluchi, M.; Arganaraz, R.; Buznick, J.; Pomata, H.

2011-01-01

Objective. To evaluate the usefulness of PET in patients with refractory non-lesional temporal lobe epilepsy. Material and methods. We present three patients with features of temporal lobe epilepsy refractory to medication, where high definition MRI was normal. Results. These patients had PET hypometabolism in the temporal areas related to clinical and neurophysiological findings. Two of these patients were implanted with subdural grids to confirm the diagnosis and the third was operated directly based on the findings of PET. Encourage the presentation of the importance in recent years is acquiring the PET. Conclusion. In those patients in clinical neurophysiology and epilepsy with suspected temporal lobe, but in the MRI images show no structural lesions, PET can play an important role defining the diagnosis. (authors)

Chronic idiopathic intestinal pseudo-obstruction in an English bulldog.

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Dvir, E; Leisewitz, A L; Van der Lugt, J J

2001-05-01

A case of chronic idiopathic intestinal pseudo-obstruction in an English bulldog is described. The dog was presented with chronic weight loss and vomiting. An intestinal obstruction was suspected based on clinical and radiological findings. A diagnosis of chronic idiopathic intestinal pseudo-obstruction was made on the basis of full thickness intestinal biopsies. The dog was refractory to any antiemetic therapy. Necropsy revealed marked atrophy and fibrosis of the tunica muscularis, together with a mononuclear cell infiltrate extending from the duodenum to the colon. This case was presented with clinical findings consistent with visceral myopathy in humans--namely, atony and dilatation of the whole gut--but the histological findings resembled sclerosis limited to the gastrointestinal tract.

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

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Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

2014-04-02

Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

A case of idiopathic omental hemorrhage

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Toshimitsu Hosotani

2016-05-01

Full Text Available With the exception of trauma, intraperitoneal hemorrhage in young women is caused by the high frequency of ectopic pregnancy and ovarian bleeding. Here, we describe a case of idiopathic omental hemorrhage, which is a rare cause of intraperitoneal hemorrhage. Intraperitoneal hemorrhage was suspected in a 38-year-old Japanese woman based on contrast-enhanced computed tomography. Her last menstrual period was 23 days prior, and ovarian bleeding was considered based on bloody ascites revealed by culdocentesis. She underwent emergency surgery for hypovolemic shock. Although both ovaries were of normal size and no abnormal findings were observed, we performed a partial omentectomy because multiple clots were attached only to the greater omentum. Postoperatively, no rebleeding occurred, and she was discharged 11 days after the surgery. Because she did not have a clear history of trauma and underlying disease, idiopathic omental hemorrhage was diagnosed.

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

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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.

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

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Altmann, Andre; Botía, Juan A; Jahanshad, Neda; Hibar, Derrek P; Absil, Julie; Alhusaini, Saud; Alvim, Marina K M; Auvinen, Pia; Bartolini, Emanuele; Bergo, Felipe P G; Bernardes, Tauana; Blackmon, Karen; Braga, Barbara; Caligiuri, Maria Eugenia; Calvo, Anna; Carr, Sarah J; Chen, Jian; Chen, Shuai; Cherubini, Andrea; David, Philippe; Domin, Martin; Foley, Sonya; França, Wendy; Haaker, Gerrit; Isaev, Dmitry; Keller, Simon S; Kotikalapudi, Raviteja; Kowalczyk, Magdalena A; Kuzniecky, Ruben; Langner, Soenke; Lenge, Matteo; Leyden, Kelly M; Liu, Min; Loi, Richard Q; Martin, Pascal; Mascalchi, Mario; Morita, Marcia E; Pariente, Jose C; Rodríguez-Cruces, Raul; Rummel, Christian; Saavalainen, Taavi; Semmelroch, Mira K; Severino, Mariasavina; Thomas, Rhys H; Tondelli, Manuela; Tortora, Domenico; Vaudano, Anna Elisabetta; Vivash, Lucy; von Podewils, Felix; Wagner, Jan; Weber, Bernd; Yao, Yi; Yasuda, Clarissa L; Zhang, Guohao; Bargalló, Nuria; Bender, Benjamin; Bernasconi, Neda; Bernasconi, Andrea; Bernhardt, Boris C; Blümcke, Ingmar; Carlson, Chad; Cavalleri, Gianpiero L; Cendes, Fernando; Concha, Luis; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Doherty, Colin P; Focke, Niels K; Gambardella, Antonio; Guerrini, Renzo; Hamandi, Khalid; Jackson, Graeme D; Kälviäinen, Reetta; Kochunov, Peter; Kwan, Patrick; Labate, Angelo; McDonald, Carrie R; Meletti, Stefano; O'Brien, Terence J; Ourselin, Sebastien; Richardson, Mark P; Striano, Pasquale; Thesen, Thomas; Wiest, Roland; Zhang, Junsong; Vezzani, Annamaria; Ryten, Mina; Thompson, Paul M

2018-01-01

Abstract Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls. We ranked brain structures in order of greatest differences between patients and controls, by meta-analysing effect sizes across 16 subcortical and 68 cortical brain regions. We also tested effects of duration of disease, age at onset, and age-by-diagnosis interactions on structural measures. We observed widespread patterns of altered subcortical volume and reduced cortical grey matter thickness. Compared to controls, all epilepsy groups showed lower volume in the right thalamus (Cohen’s d = −0.24 to −0.73; P left, but not right, MTLE (d = −0.29 to −0.54; P right, but not left, MTLE (d = −0.27 to −0.51; P right MTLE groups (beta, b brain measures that can be further targeted for study in genetic and neuropathological studies. This worldwide initiative identifies patterns of shared grey matter reduction across epilepsy syndromes, and distinctive abnormalities between epilepsy syndromes, which inform our understanding of epilepsy as a network disorder, and indicate that certain epilepsy syndromes involve more widespread structural compromise than previously assumed. PMID:29365066

Presentation of suspected pediatric uveitis.

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Saeed, Muhammad Usman; Raza, Syed Hamid; Goyal, Sudeshna; Cleary, Gavin; Newman, William David; Chandna, Arvind

2014-01-01

Presentation of suspected pediatric uveitis: Pediatric uveitis is usually managed in specialized ophthalmic centers in the UK. Meaningful data acquisition in these clinics may be helpful in clinical governance, and healthcare planning in a specialty that is gradually changing due to changes in treatment choices. Retrospective analysis of prospectively acquired data in the Liverpool pediatric uveitis database was performed. Analysis of our data, based on 147 patients, with a mean age of 10 years, indicated a female to male ratio of 2:1. 99% of patients were Caucasian. Our data indicates 86% of all patients attending the uveitis clinic were diagnosed with juvenile idiopathic arthritis, followed by intermediate uveitis 5% and idiopathic uveitis 4%. 46% of patients required treatment. Systemic treatment included methotrexate (34%), prednisolone (14%), etanercept (6%), ciclosporin (6%), mycophenolate (3%), and infliximab (1%). Severe visual loss (defined by counting fingers or below vision) was seen in 10 eyes despite appropriately treated chronic uveitis. Our data shows uveitis-related ocular morbidity in a predominantly pediatric Caucasian population. Patients with severe and chronic uveitis may experience significant uveitis-related complications and subsequent visual loss despite aggressive treatment.

Usefulness of electroencephalography for the management of epilepsy in emergency departments.

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Viloria Alebesque, A; López Bravo, A; Bellosta Diago, E; Santos Lasaosa, S; Mauri Llerda, J A

2017-11-03

Electroencephalography (EEG) is an essential diagnostic tool in epilepsy. Its use in emergency departments (ED) is usually restricted to the diagnosis and management of non-convulsive status epilepticus (NCSE). However, EDs may also benefit from EEG in the context of other situations in epilepsy. We conducted a retrospective observational study using the clinical histories of patients treated at our hospital's ED for epileptic seizures and suspicion of NCSE and undergoing EEG studies in 2015 and 2016. We collected a series of demographic and clinical variables. Our sample included 87 patients (mean age of 44 years). Epileptic seizures constituted the most common reason for consultation: 59.8% due to the first episode of epileptic seizures (FES), 27.6% due to recurrence, and 12.6% due to suspected NCSE. Interictal epileptiform discharges (IED) were observed in 38.4% of patients reporting FES and in 33.3% of those with a known diagnosis of epilepsy. NCSE was confirmed by EEG in 36.4% of all cases of suspected NCSE. Presence of IED led to administration of or changes in long-term treatment in 59.8% of the patients. EEG is a useful tool for seizure management in EDs, not only for severe, sudden-onset clinical situations such as NCSE but also for diagnosis in cases of non-affiliated epilepsy and in patients experiencing the first episode of epilepsy. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Epilepsy classification and additional definitions in occipital lobe epilepsy.

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Yilmaz, Kutluhan; Karatoprak, Elif Yüksel

2015-09-01

To evaluate epileptic children with occipital lobe epilepsy (OLE) in the light of the characteristics of Panayiotopoulos syndrome and late-onset occipital lobe epilepsy of Gastaut (OLE-G). Patients were categorized into six groups: primary OLE with autonomic symptoms (Panayiotopoulos syndrome), primary OLE with visual symptoms (OLE-G), secondary OLE with autonomic symptoms (P-type sOLE), secondary OLE with visual symptoms (G-type sOLE), and non-categorized primary OLE and non-categorized secondary OLE according to characteristic ictal symptoms of both Panayiotopoulos syndrome and OLE-G, as well as aetiology (primary or secondary). Patients were compared with regards to seizure symptoms, aetiology, cranial imaging, EEG, treatment and outcome. Of 108 patients with OLE (6.4±3.9 years of age), 60 patients constituted primary groups (32 with Panayiotopoulos syndrome, 11 with OLE-G, and 17 with non-categorized primary OLE); the other 48 patients constituted secondary groups (eight with P-type sOLE, three with G-type sOLE, and 37 with non-categorized sOLE). Epileptiform activity was restricted to the occipital area in half of the patients. Generalized epileptiform activity was observed in three patients, including a patient with Panayiotopoulos syndrome (PS). Only one patient had refractory epilepsy in the primary groups while such patients made up 29% in the secondary groups. In OLE, typical autonomic or visual ictal symptoms of Panayiotopoulos syndrome and OLE-G do not necessarily indicate primary (i.e. genetic or idiopathic) aetiology. Moreover, primary OLE may not present with these symptoms. Since there are many patients with OLE who do not exhibit the characteristics of Panayiotopoulos syndrome or OLE-G, additional definitions and terminology appear to be necessary to differentiate between such patients in both clinical practice and studies.

Management of multifactorial idiopathic epilepsy in EL mice with caloric restriction and the ketogenic diet: role of glucose and ketone bodies

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Mantis John G

2004-10-01

Full Text Available Abstract Background The high fat, low carbohydrate ketogenic diet (KD was developed as an alternative to fasting for seizure management. While the mechanisms by which fasting and the KD inhibit seizures remain speculative, alterations in brain energy metabolism are likely involved. We previously showed that caloric restriction (CR inhibits seizure susceptibility by reducing blood glucose in the epileptic EL mouse, a natural model for human multifactorial idiopathic epilepsy. In this study, we compared the antiepileptic and anticonvulsant efficacy of the KD with that of CR in adult EL mice with active epilepsy. EL mice that experienced at least 15 recurrent complex partial seizures were fed either a standard diet unrestricted (SD-UR or restricted (SD-R, and either a KD unrestricted (KD-UR or restricted (KD-R. All mice were fasted for 14 hrs prior to diet initiation. A new experimental design was used where each mouse in the diet-restricted groups served as its own control to achieve a 20–23% body weight reduction. Seizure susceptibility, body weights, and the levels of plasma glucose and β-hydroxybutyrate were measured once/week over a nine-week treatment period. Results Body weights and blood glucose levels remained high over the testing period in the SD-UR and the KD-UR groups, but were significantly (p Conclusions The results indicate that seizure susceptibility in EL mice is dependent on plasma glucose levels and that seizure control is more associated with the amount than with the origin of dietary calories. Also, CR underlies the antiepileptic and anticonvulsant action of the KD in EL mice. A transition from glucose to ketone bodies for energy is predicted to manage EL epileptic seizures through multiple integrated changes of inhibitory and excitatory neural systems.

Genetic and epigenetic mechanisms of epilepsy: a review

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Chen T

2017-07-01

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

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

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

2017-07-01

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

Gain-of-function HCN2 variants in genetic epilepsy.

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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.

Toxoplasmosis and epilepsy--systematic review and meta analysis.

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

2015-02-01

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

Accelerated long-term forgetting and behavioural difficulties in children with epilepsy.

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Gascoigne, Michael B; Smith, Mary Lou; Barton, Belinda; Webster, Richard; Gill, Deepak; Lah, Suncica

2018-03-30

Patients with epilepsy have been shown to exhibit a range of memory deficits, including the rapid forgetting of newly-learned material over long, but not short, delays (termed accelerated long-term forgetting; ALF). Behavioural problems, such as mood disorders and social difficulties, are also overrepresented among children with epilepsy, when compared to patients with other chronic diseases and the general population. We investigated whether ALF was associated with behavioural or psychosocial deficits in children with epilepsy. Patients with either idiopathic generalised epilepsy (IGE; n = 20) or temporal lobe epilepsy (TLE; n = 23) and healthy controls (n = 53) of comparable age, sex, and socioeconomic status completed a battery of neuropsychological tests, including a list-learning task that required recall after short (30-min) and long (7-day) delays. Parents or guardians of all participants also completed the Child Behavior Checklist (CBCL). Compared to control participants, patients with IGE and TLE had higher scores on all but one of the indices of behavioural problems. When patients with IGE and TLE were merged into a single group, they were found to have negative correlations between 7-day recall and internalising, social and total problem behaviour domains, where poorer 7-day recall was associated with behavioural problems of greater severity. These findings suggest that impaired episodic recall is associated with behavioural deficits, including social problems, which are routinely observed in patients with epilepsy. Copyright © 2018 Elsevier Ltd. All rights reserved.

Epilepsy management in older people: Lessons from National Audit of Seizure management in Hospitals (NASH).

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Ziso, B; Dixon, P A; Marson, A G

2017-08-01

Epilepsy is the third most common diagnosis in older people, however management in this group remains variable. National Audit of Seizure management in Hospitals (NASH) set out to assess care provided to patients attending hospitals in England following a seizure. 154 Emergency Departments (EDs) across the UK took part. 1256 patients aged 60 years or over were included for analysis (median age 74 years, 54% men). 51% were known to have epilepsy, 17% had history of previous seizure or blackout and 32% presented with a suspected first seizure. 14% of older patients with epilepsy were not on treatment, 59% were on monotherapy. Sodium valproate was the most commonly used antiepileptic, 28%. 35% of patients with epilepsy, aged 60 and over, had a CT during admission compared to only 17% of those under 60. 80% of patients aged 60 and over presenting with a likely first seizure were admitted to hospital, compared to 65% of those under 60. 34% of those with suspected first seizure were referred to a neurologist on discharge compared to 68% of patients under the age of 60. 52% of 60-69year olds with a suspected first seizure were referred to neurology compared to 25% of patients aged 80-89. Older patients presenting with seizures are more likely to be admitted to hospital and have imaging. They are less likely to be referred to specialist services on discharge. There appears to be significant disparity in patient age and rate of referral. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

7T MRI in focal epilepsy with unrevealing conventional field strength imaging.

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De Ciantis, Alessio; Barba, Carmen; Tassi, Laura; Cosottini, Mirco; Tosetti, Michela; Costagli, Mauro; Bramerio, Manuela; Bartolini, Emanuele; Biagi, Laura; Cossu, Massimo; Pelliccia, Veronica; Symms, Mark R; Guerrini, Renzo

2016-03-01

To assess the diagnostic yield of 7T magnetic resonance imaging (MRI) in detecting and characterizing structural lesions in patients with intractable focal epilepsy and unrevealing conventional (1.5 or 3T) MRI. We conducted an observational clinical imaging study on 21 patients (17 adults and 4 children) with intractable focal epilepsy, exhibiting clinical and electroencephalographic features consistent with a single seizure-onset zone (SOZ) and unrevealing conventional MRI. Patients were enrolled at two tertiary epilepsy surgery centers and imaged at 7T, including whole brain (three-dimensional [3D] T1 -weighted [T1W] fast-spoiled gradient echo (FSPGR), 3D susceptibility-weighted angiography [SWAN], 3D fluid-attenuated inversion recovery [FLAIR]) and targeted imaging (2D T2*-weighted dual-echo gradient-recalled echo [GRE] and 2D gray-white matter tissue border enhancement [TBE] fast spin echo inversion recovery [FSE-IR]). MRI studies at 1.5 or 3T deemed unrevealing at the referral center were reviewed by three experts in epilepsy imaging. Reviewers were provided information regarding the suspected localization of the SOZ. The same team subsequently reviewed 7T images. Agreement in imaging interpretation was reached through consensus-based discussions based on visual identification of structural abnormalities and their likely correlation with clinical and electrographic data. 7T MRI revealed structural lesions in 6 (29%) of 21 patients. The diagnostic gain in detection was obtained using GRE and FLAIR images. Four of the six patients with abnormal 7T underwent epilepsy surgery. Histopathology revealed focal cortical dysplasia (FCD) in all. In the remaining 15 patients (71%), 7T MRI remained unrevealing; 4 of the patients underwent epilepsy surgery and histopathologic evaluation revealed gliosis. 7T MRI improves detection of epileptogenic FCD that is not visible at conventional field strengths. A dedicated protocol including whole brain FLAIR and GRE images at 7T

Adult Prevalence of Epilepsy in Spain: EPIBERIA, a Population-Based Study

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Serrano-Castro, Pedro J.; Mauri-Llerda, Jose Angel; Hernández-Ramos, Francisco José; Sánchez-Alvarez, Juan Carlos; Parejo-Carbonell, Beatriz; Quiroga-Subirana, Pablo; Vázquez-Gutierrez, Fernando; Santos-Lasaosa, Sonia; Mendez-Lucena, Carolina; Redondo-Verge, Luis; Tejero-Juste, Carlos; Morandeira-Rivas, Clara; Sancho-Rieger, Jerónimo; Matías-Guiu, Jorge

2015-01-01

Background. This study assesses the lifetime and active prevalence of epilepsy in Spain in people older than 18 years. Methods. EPIBERIA is a population-based epidemiological study of epilepsy prevalence using data from three representative Spanish regions (health districts in Zaragoza, Almería, and Seville) between 2012 and 2013. The study consisted of two phases: screening and confirmation. Participants completed a previously validated questionnaire (EPIBERIA questionnaire) over the telephone. Results. A total of 1741 valid questionnaires were obtained, including 261 (14.99%) raising a suspicion of epilepsy. Of these suspected cases, 216 (82.75%) agreed to participate in phase 2. Of the phase 2 participants, 22 met the International League Against Epilepsy's diagnostic criteria for epilepsy. The estimated lifetime prevalence, adjusted by age and sex per 1,000 people, was 14.87 (95% CI: 9.8–21.9). Active prevalence was 5.79 (95% CI: 2.8–10.6). No significant age, sex, or regional differences in prevalence were detected. Conclusions. EPIBERIA provides the most accurate estimate of epilepsy prevalence in the Mediterranean region based on its original methodology and its adherence to ILAE recommendations. We highlight that the lifetime prevalence and inactive epilepsy prevalence figures observed here were compared to other epidemiological studies. PMID:26783554

Disruptions in cortico-subcortical covariance networks associated with anxiety in new-onset childhood epilepsy

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Camille Garcia-Ramos

2016-01-01

Full Text Available Anxiety disorders represent a prevalent psychiatric comorbidity in both adults and children with epilepsy for which the etiology remains controversial. Neurobiological contributions have been suggested, but only limited evidence suggests abnormal brain volumes particularly in children with epilepsy and anxiety. Since the brain develops in an organized fashion, covariance analyses between different brain regions can be investigated as a network and analyzed using graph theory methods. We examined 46 healthy children (HC and youth with recent onset idiopathic epilepsies with (n = 24 and without (n = 62 anxiety disorders. Graph theory (GT analyses based on the covariance between the volumes of 85 cortical/subcortical regions were investigated. Both groups with epilepsy demonstrated less inter-modular relationships in the synchronization of cortical/subcortical volumes compared to controls, with the epilepsy and anxiety group presenting the strongest modular organization. Frontal and occipital regions in non-anxious epilepsy, and areas throughout the brain in children with epilepsy and anxiety, showed the highest centrality compared to controls. Furthermore, most of the nodes correlating to amygdala volumes were subcortical structures, with the exception of the left insula and the right frontal pole, which presented high betweenness centrality (BC; therefore, their influence in the network is not necessarily local but potentially influencing other more distant regions. In conclusion, children with recent onset epilepsy and anxiety demonstrate large scale disruptions in cortical and subcortical brain regions. Network science may not only provide insight into the possible neurobiological correlates of important comorbidities of epilepsy, but also the ways that cortical and subcortical disruption occurs.

Therapeutic drug monitoring in epilepsy clinic: a multi-disciplinary approach

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Sunee Lertsinudom

2014-12-01

Full Text Available Epilepsy is a common public health problem and needs multi-disciplinary treatment. Therapeutic drug monitoring (TDM is one of step of the multi-disciplinary treatment in epilepsy at Epilepsy clinic, Khon Kaen University (Thailand. The TDM service has been established since 2008. Here, we aimed to study the roles of TDM order and epilepsy control. This is a prospective descriptive study in which data collection was done from January 1 to December 31, 2010, the period when pharmacists took part in assessing the appropriateness in measurement and interpretation of TDM in order to provide suggestions for physicians. The 112 patients under study had an average age of 38.21±15.36 years; 254 samples were collected for therapeutic drug monitoring; phenytoin was submitted mostly for drug monitoring at 46.46%; 44.49% of sub-missions for drug level monitoring were made owing to a suspected sub-therapeutic level. Associations were found between reasons of sending samples for drug level monitoring and the measured drug levels, i.e., 66.67% of drug levels found was so low that they were undetectable in sample for patients’ compliance investigation and 38.94% of the drug levels were found to be sub-therapeutic as for the case where submission of samples was done because of suspected sub-therapeutic level, 40% of the cases were found to be in toxicity range in the cases with suspected over-therapeutic levels and monitoring levels, 58.25% were found to be within the therapeutic range. Pharmacists used the interpreted results in patients’ care by recommending physicians to monitor therapeutic drug closely, to adjust the dosage of drugs, and to recommend checking patients’ compliance in their use of drugs at 56.5, 38.9, and 4.3%, respectively. Physicians’ responses were found to be absolute follow, partial follow and not follow at 77.95, 11.03, and 7.48%, respectively. In conclusion, associations were found between reasons of TDM order and measured drug

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

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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.

Epilepsy in pediatric patients. Selection of investigations

International Nuclear Information System (INIS)

Bulteau, C.; Adamsbaum, C.; Cieuta, C.; Chiron, C.

1996-01-01

Epilepsy is a chronic condition whose diagnosis rests on clinical and electro-encephalographic criteria. Computed tomography or magnetic resonance imaging demonstrates a Cause in 25 % of cases. An international classification has been developed that is useful for evaluating the prognosis, the course, and the effect of treatments. Although the pathophysiology of epilepsy has not yet been elucidated, it is hoped that recently-developed functional imaging and genetic techniques will shed new light on this problem. Although neuro-psychologic studies can be of use for localizing the epileptic focus, few age specific reference values have been reported. Laboratory tests are indicated when occasional seizures or metabolic disorders are suspected, as well as in epileptic children with worsening seizures or possible side effects of drugs. (author). 13 refs., 2 figs., 2 tabs

Impact of epilepsy on children and parents in Gabon.

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

2015-03-01

Children with epilepsy and their parents face many social and psychological difficulties that remain insufficiently studied in sub-Saharan Africa. The aim here was to assess the quality of life of children with epilepsy and their parents. A community-based cross-sectional survey was conducted in two urban areas and four rural areas of Gabon. Children were screened through key informants, medical sources, and a door-to-door survey. They were clinically selected based on their medical history and a clinical exam conducted by the investigating physician. Electroencephalography had not been carried out because of a lack of material and financial resources. The quality of life of children and their parents was assessed by a structured interview of parents using a questionnaire. Of 317 suspected cases on screening, 83 children with epilepsy were identified. Their mean age was 11.9±4.4years. Twelve percent of the children had neurosensory abnormalities on clinical exam. Sixty-three percent of them attended school; factors associated with schooling were higher score on the sociability subscale, specialized medical advice, and antiepileptic drug treatment. Sociability difficulties, anxiety, cognitive impairment, and behavioral disorders were suspected in 39.8%, 45.8%, 49.4%, and 42.2% of children, respectively. A total of 48.2% of parents expressed a poor quality of life related to their children's illness. A higher score on the cognition subscale, urban residence, specialized medical advice, and a stable income in the household were predictive of poor parental quality of life. Epilepsy influences many aspects of a child's life and the life of the child's parents. Care should incorporate a cognitive assessment of the child and emphasize information for patients and their relatives. Copyright © 2015 Elsevier Inc. All rights reserved.

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

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

2017-06-01

generalized tonic-clonic seizures and approximately 30 suspected generalized tonic-clonic seizures. Sudden unexpected death in epilepsy is a very rare outcome in BECTS that clinicians should consider discussing in appropriate circumstances and possibly factoring into treatment decisions.

Potential years lost and life expectancy in adults with newly diagnosed epilepsy.

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Granbichler, Claudia A; Zimmermann, Georg; Oberaigner, Willi; Kuchukhidze, Giorgi; Ndayisaba, Jean-Pierre; Taylor, Alexandra; Luef, Gerhard; Bathke, Arne C; Trinka, Eugen

2017-11-01

Studies using relative measures, such as standardized mortality ratios, have shown that patients with epilepsy have an increased mortality. Reports on more direct and absolute measure such as life expectancy are sparse. We report potential years lost and how life expectancy has changed over 40 years in a cohort of patients with newly diagnosed epilepsy. We analyzed life expectancy in a cohort of adult patients diagnosed with definite epilepsy between 1970 and 2010. Those with brain tumor as cause of epilepsy were excluded. By retrospective probabilistic record linkage, living or death status was derived from the national death registry. We estimated life expectancy by a Weibull regression model using gender, age at diagnosis, epilepsy etiology, and year of diagnosis as covariates at time of epilepsy diagnosis, and 5, 10, 15, and 20 years after diagnosis. Results were compared to the general population, and 95% confidence intervals are given. There were 249 deaths (105 women, age at death 19.0-104.0 years) in 1,112 patients (11,978.4 person-years, 474 women, 638 men). A substantial decrease in life expectancy was observed for only a few subgroups, strongly depending on epilepsy etiology and time of diagnosis: time of life lost was highest in patients with symptomatic epilepsy diagnosed between 1970 and 1980; the impact declined with increasing time from diagnosis. Over half of the analyzed subgroups did not differ significantly from the general population. This effect was reversed in the later decades, and life expectancy was prolonged in some subgroups, reaching a maximum in those with newly diagnosed idiopathic and cryptogenic epilepsy between 2001 and 2010. Life expectancy is reduced in symptomatic epilepsies. However, in other subgroups, a prolonged life expectancy was found, which has not been reported previously. Reasons may be manifold and call for further study. © 2017 The Authors. Epilepsia published by Wiley Periodicals, Inc. on behalf of International

The idiosyncratic aspects of the epilepsy of Fyodor Dostoevsky.

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Hughes, John R

2005-11-01

The goal of this article is to review the idiosyncratic aspects of the epilepsy of Fyodor Dostoevsky, one of the greatest writers of all time. The onset of his seizures is controversial, with some evidence pointing to his childhood and other reports that would place the onset in his teens or his twenties. His life in prison in Siberia and then in the Russian army is reviewed. His lifestyle included many factors that exacerbated his epilepsy, especially stress and sleep deprivation. His compulsion for gambling played an important role in producing great stress in his life, as he tried to reverse his poverty in the casinos. The most idiosyncratic aspect of his epilepsy was his so-called ecstatic aura. The etiology of his seizures was probably inherited as revealed by the seizures of his father and the status epilepticus and death of his young son. This great writer died from lung hemorrhages in 1891. Discussed in this review is that he did not likely have an aura of ecstasy; only a few such possible cases can be found in the world literature. For those few cases, evidence from electrical self-stimulation studies in animals and humans, investigating "pleasure centers," can be found to involve the limbic system, especially the septal nucleus. Data from the human amygdala provide evidence why almost all auras are, in fact, unpleasant and not pleasant. A review of recent data on the risks to offspring of epileptic fathers confirms that the etiology of Dostoevsky's epilepsy was probably inherited and that he probably had an idiopathic generalized epilepsy with minor involvement of the temporal lobe. A relationship is seen between his severe obsession with gambling and his epilepsy. Finally, Fyodor Dostoevsky is an excellent example of the "temporal lobe personality."

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.

[Structural CNS abnormalities responsible for coincidental occurrence of endocrine disorders, epilepsy and psychoneurologic disorders in children and adolescents].

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Starzyk, Jerzy; Kwiatkowski, Stanisław; Kaciński, Marek; Kroczka, Sławomir; Wójcik, Małgorzata

2010-01-01

In the population of children and adolescents, epilepsy affects 0.5-1% of individuals; approximately 3% of general population suffer from non-epileptic seizures, while endocrine disorders are several times more frequent. All of the above factors result in a relatively common non-accidental occurrence of endocrine disorders, epilepsy and neuropsychiatric disorders. However, structural central nervous system (CNS) abnormalities that cause both endocrine and neurologic disorders seem to be markedly less common. No reports addressing this problem are available in the literature. 1) Assessment of the frequency of non-coincidental occurrence of epilepsy and endocrine disorders in inpatients and outpatients with structural CSN abnormalities managed in Department Endocrinology. 2) Presentation of diagnostic and therapeutic difficulties in these patients, and 3) An attempt at defining a common etiology of both disorders. A retrospective analysis of the medical records of the patients with coincidence of endocrine disorders and epilepsy and psycho-neurologic disorders (treated in Chair and Department of Children's and Adolescents Neurology, University Children's Hospital of Krakow or in another pediatric neurology center) and with organic CNS abnormalities (treated or followed up as inpatients and outpatient of Department of Pediatric Surgery, Children's University Hospital of Krakow, was performed. The patients were selected from among several thousands of children treated as inpatients and outpatients of the Department. Various forms of symptomatic and idiopathic epilepsy and other psychoneurological disorders (disorders of behavior and emotions, obsession-compulsion syndromes, stereotypias, aggression, compulsive ideas and movements, anorexia or hypothalamic obesity) coincident with one or more endocrine disorders such as precocious or delayed puberty, multihormonal pituitary deficiency, panhypopituitarism and secondary hypothyroidism were detected in 42 patients with

Adult Prevalence of Epilepsy in Spain: EPIBERIA, a Population-Based Study

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Pedro J. Serrano-Castro

2015-01-01

Full Text Available Background. This study assesses the lifetime and active prevalence of epilepsy in Spain in people older than 18 years. Methods. EPIBERIA is a population-based epidemiological study of epilepsy prevalence using data from three representative Spanish regions (health districts in Zaragoza, Almería, and Seville between 2012 and 2013. The study consisted of two phases: screening and confirmation. Participants completed a previously validated questionnaire (EPIBERIA questionnaire over the telephone. Results. A total of 1741 valid questionnaires were obtained, including 261 (14.99% raising a suspicion of epilepsy. Of these suspected cases, 216 (82.75% agreed to participate in phase 2. Of the phase 2 participants, 22 met the International League Against Epilepsy’s diagnostic criteria for epilepsy. The estimated lifetime prevalence, adjusted by age and sex per 1,000 people, was 14.87 (95% CI: 9.8–21.9. Active prevalence was 5.79 (95% CI: 2.8–10.6. No significant age, sex, or regional differences in prevalence were detected. Conclusions. EPIBERIA provides the most accurate estimate of epilepsy prevalence in the Mediterranean region based on its original methodology and its adherence to ILAE recommendations. We highlight that the lifetime prevalence and inactive epilepsy prevalence figures observed here were compared to other epidemiological studies.

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

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

2018-02-01

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

Diffusion and perfusion MRI for the localisation of epileptogenic foci in drug-resistant epilepsy

International Nuclear Information System (INIS)

Heiniger, P.; El-Koussy, M.; Kiefer, C.; Oswald, H.; Schroth, G.; Schindler, K.; Donati, F.; Loevblad, K.O.; Wissmeyer, M.; Mariani, L.; Weder, B.

2002-01-01

Drug-resistant epilepsy is an important clinical challenge, both diagnostically and therapeutically. More and more surgical options are being considered, but precise presurgical assessment is necessary. We prospectively studied eight patients with drug-resistant epilepsy, who underwent clinical examination, single photon emission computed tomography (SPECT) and interictal MRI, including diffusion- and perfusion-weighted echoplanar sequences. Lesions suspected on SPECT of being epileptogenic showed mild hypoperfusion, while the diffusion-weighted MRI (DWI) revealed increased apparent diffusion coefficients relative to the other side. However, these abnormalities were not visible on the corresponding maps. We showed that DWI and perfusion-weighted MRI could be used confirm the characteristics and site of an epileptogenic area in patients with drug-resistant epilepsy. (orig.)

Conversion disorder as psychogenic nonepileptic seizures in suspected cancer: a case report.

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Jimenez, Xavier F; Sharma, Jennifer S; Dar, Syma A

2014-01-01

Psychogenic nonepileptic seizures (PNES), a form of conversion disorder, are paroxysmal episodes resembling epilepsy while lacking electrographic correlation. The phenomenon has rarely been reported in elderly patients and has not been associated with a new-onset medical diagnosis. We present the case of an 81-year-old female with no past psychiatric or traumatic history who developed PNES within the context of a new, suspected cancer. To our knowledge, this is the first such reported case of a suspected cancer (or otherwise medical) diagnosis contributing directly and temporally to the development of PNES. Discussion of involved psychosocial variables follows the vignette, and a brief review of relevant literature is offered. Copyright © 2014 Elsevier Inc. All rights reserved.

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.

Focal status epilepticus as a manifestation of idiopathic hypertrophic cranial pachymeningitis.

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Navalpotro-Gómez, Irene; Vivanco-Hidalgo, Rosa María; Cuadrado-Godia, Elisa; Medrano-Martorell, Santiago; Alameda-Quitllet, Francisco; Villalba-Martínez, Gloria; Roquer, Jaume

2016-08-15

Idiopathic hypertrophic cranial pachymeningitis (IHCP) is an uncommon disease of unknown etiology characterized by thickening of the cerebral dura mater with possible associated inflammation. The most frequently described clinical symptoms include headache, cranial nerve palsy, and cerebellar dysfunction. Epilepsy and/or status epilepticus as main presentation is very uncommon. Two consecutive cases are presented of patients manifesting focal status epilepticus secondary to IHCP, with clinical, laboratory [blood test and cerebrospinal fluid (CSF) analysis], neuroradiologic [magnetic resonance imaging (MRI) at 3 Tesla and digital subtraction angiography (DSA)], and therapeutic data. One patient underwent meningeal biopsy; pathology findings are also included. Corticosteroid therapy resulted in clinical improvement in both cases, and neuroimaging showed decreased abnormal morphology, compared to initial findings. In the diagnostic approach to focal status epilepticus or epilepsy, IHCP must be considered a potential, although extremely infrequent, cause. Anti-inflammatory treatment is an effective addition to antiepileptic drug therapy in patients with IHCP. Copyright © 2016 Elsevier B.V. All rights reserved.

Occipital lobe seizures and epilepsies.

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Adcock, Jane E; Panayiotopoulos, Chrysostomos P

2012-10-01

Occipital lobe epilepsies (OLEs) manifest with occipital seizures from an epileptic focus within the occipital lobes. Ictal clinical symptoms are mainly visual and oculomotor. Elementary visual hallucinations are common and characteristic. Postictal headache occurs in more than half of patients (epilepsy-migraine sequence). Electroencephalography (EEG) is of significant diagnostic value, but certain limitations should be recognized. Occipital spikes and/or occipital paroxysms either spontaneous or photically induced are the main interictal EEG abnormalities in idiopathic OLE. However, occipital epileptiform abnormalities may also occur without clinical relationship to seizures particularly in children. In cryptogenic/symptomatic OLE, unilateral posterior EEG slowing is more common than occipital spikes. In neurosurgical series of symptomatic OLE, interictal EEG abnormalities are rarely strictly occipital. The most common localization is in the posterior temporal regions and less than one-fifth show occipital spikes. In photosensitive OLE, intermittent photic stimulation elicits (1) spikes/polyspikes confined in the occipital regions or (2) generalized spikes/polyspikes with posterior emphasis. In ictal EEG, a well-localized unifocal rhythmic ictal discharge during occipital seizures is infrequent. A bioccipital field spread to the temporal regions is common. Frequency, severity, and response to treatment vary considerably from good to intractable and progressive mainly depending on underlying causes.

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

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Wei Guo

2017-01-01

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

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 ...

Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy.

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Deonna, Thierry; Roulet, Eliane

2006-01-01

The onset of epilepsy in brain systems involved in social communication and/or recognition of emotions can occasionally be the cause of autistic symptoms or may aggravate preexisting autistic symptoms. Knowing that cognitive and/or behavioral abnormalities can be the presenting and sometimes the only symptom of an epileptic disorder or can even be caused by paroxysmal EEG abnormalities without recognized seizures, the possibility that this may apply to autism has given rise to much debate. Epilepsy and/or epileptic EEG abnormalities are frequently associated with autistic disorders in children but this does not necessarily imply that they are the cause; great caution needs to be exercised before drawing any such conclusions. So far, there is no evidence that typical autism can be attributed to an epileptic disorder, even in those children with a history of regression after normal early development. Nevertheless, there are several early epilepsies (late infantile spasms, partial complex epilepsies, epilepsies with CSWS, early forms of Landau-Kleffner syndrome) and with different etiologies (tuberous sclerosis is an important model of these situations) in which a direct relationship between epilepsy and some features of autism may be suspected. In young children who primarily have language regression (and who may have autistic features) without evident cause, and in whom paroxysmal focal EEG abnormalities are also found, the possible direct role of epilepsy can only be evaluated in longitudinal studies.

Baseline Cognition, Behavior, and Motor Skills in Children with New-Onset, Idiopathic Epilepsy

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Bhise, Vikram V.; Burack, Gail D.; Mandelbaum, David E.

2010-01-01

Aim: Epilepsy is associated with difficulties in cognition and behavior in children. These problems have been attributed to genetics, ongoing seizures, psychosocial issues, underlying abnormality of the brain, and/or antiepileptic drugs. In a previous study, we found baseline cognitive differences between children with partial versus generalized…

The Performance of Ictal Brain SPECT Localizing for Epileptogenic Zone in Neocortical Epilepsy

International Nuclear Information System (INIS)

Kim, Eun Sik; Lee, Dong Soo; Hyun, In Young; Chung, June Key; Lee, Myung Chul; Koh, Chang Soon; Lee, Sang Kun; Chang, Kee Hyun

1995-01-01

The epileptogenic zones should be localized precisely before surgical resection of these zones in intractable epilepsy. The localization is more difficult in patients with neocortical epilepsy than in patients with temporal lobe epilepsy. This study aimed at evaluation of the usefulness of ictal brain perfusion SPECT for the localization of epileptogenic zones in neocortical epilepsy. We compared the performance of ictal SPECT with MRI referring to ictal scalp electroencephalography (sEEG). Ictal 99m Tc-HMPAO SPECT were done in twenty-one patients. Ictal EEG were also obtained during video monitoring. MRI were reviewed. According to the ictal sEEG and semiology, 8 patients were frontal lobe epilepsy, 7 patients were lateral temporal lobe epilepsy, 2 patients were parietal lobe epilepsy, and 4 patients were occipital lobe epilepsy. Ictal SPECT showed hyperperfusion in 14 patients(67%) in the zones which were suspected to be epileptogenic according to ictal EEG and semiology. MRI found morphologic abnormalities in 9 patients(43%). Among the 12 patients, in whom no epileptogenic zones were revealed by MR1, ictal SPECT found zones of hyperperfusion concordant with ictal sEEG in 9 patients(75%). However, no zones of hyperperfusion were found in 4 among 9 patients who were found to have cerebromalacia, abnormal calcification and migration anomaly in MRI. We thought that ictal SPECT was useful for localization of epileptogenic zones in neocortical epilepsy and especially in patients with negative findings in MRI.

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

DEFF Research Database (Denmark)

Svenstrup, K; Møller, R S; Christensen, J

2011-01-01

or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP. Methods: Fifty-two patients with HSP were screened for mutations in NIPA1. Results: One previously...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...

Comparative study of the health-related quality of life of children with epilepsy and their parents.

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Bompori, Eleni; Niakas, Dimitrios; Nakou, Iliada; Siamopoulou-Mavridou, Antigoni; Tzoufi, Meropi S

2014-12-01

We aimed to evaluate the health-related quality of life (HRQoL) of schoolchildren with epilepsy and its determinants and the HRQoL of their parents in comparison with those of healthy children and their parents. The study sample comprised 100 children with epilepsy (58 males), 8-16 years of age, diagnosed at least 6 months earlier. The children with epilepsy were divided into two subgroups: A, with well controlled idiopathic epilepsy, and B, with drug-resistant or symptomatic epilepsy and with concomitant neurodevelopmental problems. A control group consisted of 100 healthy age- and gender-matched children. One parent in each family completed two questionnaires standardized for use in Greece: KIDSCREEN-27 (version for parents) to assess the HRQoL of the children and SF-12 to assess the parental HRQoL. For each of the five dimensions of KIDSCREEN-27 and for the physical and mental component scales of the SF-12 tool, the standardized mean difference (SMD) was used for comparison between the various groups and subgroups. Linear regression analysis was used to explore the effect of specific illness-related factors on the five dimensions of KIDSCREEN-27 in the children with epilepsy. The parent-reported scores on KIDSCREEN-27 of the children with epilepsy were worse overall than those of healthy children, but the difference reached statistical significance only for the dimensions of "physical well-being" (p = 0.001) and "school environment" (p children with severe epilepsy, in the dimensions "physical well-being" (p children with resistant epilepsy and accompanying neurodevelopmental problems scored significantly worse on the SF-12 mental health scale than those of healthy children (p Epilepsy, particularly severe epilepsy with concomitant neurodevelopmental problems, adversely affects the HRQoL of both schoolchildren and their parents. Copyright © 2014 Elsevier Inc. All rights reserved.

[Causes of symptomatic epilepsy in two first years of life children hospitalized in 2006-2007 years].

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Kroczka, Sławomir; Skowronek-Bała, Barbara; Zajac, Anna

2008-01-01

Epilepsy in two first years of life needs constant attention due to diagnostic and therapeutic difficulties. The aim of the study was to identify cause of symptomatic epilepsy in two first years of life children from miopolskie and podkarpackie provinces hospitalized in Pediatric Neurology Clinic of Children and Adolescents Neurology Cathedra UJ in Cracow. 102 children with epilepsy aged from 1 week to 24 months hospitalized between 1st of January 2006 and 31st of December 2007. The group included 47 girls and 55 boys. On the basis of clinical characteristics and results of additional examinations idiopathic epilepsy was diagnosed in 16/102 (13.3%) children and in remaining 86 (87.7%) symtopmatic epilepsy was established. Perinatal burdening was cause of epilepsy in 31/86 (33.72%) children. Other causes were identified in 32/54 children (59.3%) and in remaining 231 54 (40.7%) children the cause was not established. In 3/32 epilepsy occured in the course of hydrocephalus and in 3/32 children as one of CNS inflammation complications. Epilepsy as a result of vascular lesions and bleeding to CNS occured in 4 children. Multiple developmental deffects syndrome was diagnosed in 4 children and in 11 specific neurodevelopmental disorders were the cause of epilepsy. In 6 children epilepsy occured in the course of neurometabolic diseases, neurocutaneous syndromes and neoplasms. In children in two first years of life polimorphic seizures were diagnosed the most often (32/86 that is 37.2%) and tonic, tonic-clonic seizures were less often (21/86 that is 24.43%). Focal seizures occured in 20/86 (23.26%) patients, in 4/86 (4.65%) mioclonic jerks were observed and infantile spasms in 9/86 (10.46%). (1) In most hospitalized children in two first years of life symptomatic epilepsy was diagnosed. (2) Epilepsy in two first years of life was more often in boys. (3) The most often cause of symptomatic epilepsy was pathology of perinatal period. (4) Polymorphic seizures were the most

Epilepsy prevalence, potential causes and social beliefs in Ebonyi State and Benue State, Nigeria.

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Osakwe, Chijioke; Otte, Willem M; Alo, Chimhurumnanya

2014-02-01

Epilepsy is a common neurological disorder in Nigeria. Many individuals are affected in rural areas, although prevalence data is not available. In this study we aimed to establish the prevalence of epilepsy in a rural community in south-east Nigeria, a community suspected for having a high number of people living with epilepsy. We compared this with the prevalence in a nearby semi-urban community in north-central Nigeria. In both communities we identified potential causes of epilepsy and obtained information on the social beliefs regarding epilepsy. We used door-to-door surveys and focus group discussions. The epilepsy prevalence in the rural community was 20.8/1000 [95% confidence interval (CI): 15.7-27.4]. The prevalence in the semi-rural community was lower, namely 4.7/1000 [CI: 3.2-6.9]. The difference in prevalence was highly significant (χ(2)-test, pepilepsy were in the age range of 7-24 years. Causes that might be contributory to the prevalence of epilepsy in both communities included poor obstetric practices, frequent febrile convulsions, head trauma, meningitis and neurocysticercosis. In both communities we found stigma of people with epilepsy. In conclusion, the epilepsy prevalence in the semi-urban community is similar to that in industrialized countries. In contrast, the rural community has a much higher prevalence. This may require the establishment of specific community-based epilepsy control programs. Community interventions should focus on treatment of acute epilepsy and on stigma reduction. Copyright © 2013 Elsevier B.V. All rights reserved.

Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

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Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

2010-09-01

To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

A case of autoimmune epilepsy associated with anti-leucine-rich glioma inactivated subunit 1 antibodies manifesting electrical shock-like sensations and transparent sadness

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Yoshiko Murata

2015-01-01

Full Text Available Autoimmune epilepsy is an isolated phenotype of autoimmune encephalitis, which may be suspected in patients with unexplained adult-onset seizure disorders or resistance to antiepileptic drugs (AEDs. Antibodies against leucine-rich glioma inactivated subunit 1 of the voltage-gated potassium channel (VGKC complex, recently termed anti-LGI-1 antibodies, are one of the causes of autoimmune epilepsies. Bizarre symptoms with extremely short duration and high frequency are clues to the possible presence of autoimmune epilepsy with anti-LGI-1 antibodies. Precise diagnosis is important because autoimmune epilepsy is treatable and the prognosis can be predicted.

Are “Theory of Mind” Skills in People with Epilepsy Related to How Stigmatised They Feel? An Exploratory Study

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Robinson, A.

2016-01-01

Feelings of stigma are one of the main burdens reported by people with epilepsy (PWE). Adults with temporal or frontal lobe epilepsy and children with idiopathic generalised epilepsy are at risk of Theory of Mind (ToM) deficits. ToM refers to social cognitive skills, including the ability to understand the thoughts, intentions, beliefs, and emotions of others. It has been proffered that ToM deficits may contribute to the feelings of stigma experienced by PWE. In this study we tested this for the first time. We also determined the association between clinical and demographic factors and ToM performance. Five hundred and three PWE were recruited via epilepsy organisations and completed measures online. Feelings of stigma were measured using Jacoby's Stigma Scale, whilst the Reading the Mind in the Eyes Test and the Faux Pas Test measured ToM. The median age of participants was 37 years, their median years living with epilepsy were 15, and 70% had experienced seizures in the prior 12 months. Feelings of stigma held a negligible, negative, and nonsignificant association with ToM performance (r s  −0.02 and −0.05). Our results indicate that the ToM model for understanding epilepsy stigma has limited utility and alternative approaches to understanding and addressing epilepsy-related stigma are required. PMID:27635114

Accelerated long-term forgetting in focal epilepsies with special consideration given to patients with diagnosed and suspected limbic encephalitis.

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Helmstaedter, Christoph; Winter, Babette; Melzer, Nico; Lohmann, Hubertus; Witt, Juri-Alexander

2018-01-31

Accelerated long-term forgetting (ALF) is a phenomenon found in late onset epilepsy and in transient epileptic amnesia (TEA). Here we evaluated ALF in patients with focal epilepsies and limbic encephalitis (LE) in particular. ALF was assessed in 36 patients with focal epilepsy and 154 healthy subjects using an extended version of the Verbal Learning and Memory Test (VLMT), with free recall after 30 min and again after one week. From these patients, 89% had temporal lobe epilepsy; 42% left-lateralized; 39% right; 19% bilateral; 17% were diagnosed with hippocampal sclerosis; 64% displayed features indicating LE; 52% with amygdala pathology, and 61% were antibody positive. ALF was defined as either having unimpaired free recall after 30 min and impaired recall after a week (A) or as a loss in recall exceeding the absolute (B) and percentage loss (C) in the interval of the 30 min and one week recall seen in controls by more than one standard deviation. Repeated measures analysis revealed an association between LE and ALF. Depending on its definition (A, B, or C), ALF was evident in 31%, 42%, or 67% of the patients. Poor verbal memory and ALF (C) were prominent in left-lateralized epilepsies. ALF (A) appeared more frequently in auto-antibody negative patients with LE, ALF (B) less frequently with hippocampal sclerosis. Seizures during the interval did not explain ALF. Depending on its definition, ALF is seen in patients with normal or impaired memory at ½ h. ALF seems related to LE but might as well be the first sign of memory impairment in patients with milder epilepsies and not yet definite structural temporal lobe pathology. Longitudinal assessment would be essential for discerning when ALF becomes evident, whether conditions exist in which ALF precedes short-term forgetting, and whether ALF responds to treatment. Copyright © 2018 Elsevier Ltd. All rights reserved.

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.

A randomized, double-blind, placebo-controlled clinical trial of the efficacy of treatment with zinc in children with intractable epilepsy

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Saad, Khaled; El-Houfey, Amira A.; Abd El-Hamed, Mohamed A.; El-Asheer, Osama M.; Al-Atram, Abdulrahman A.; Tawfeek, Mostafa S. K.

2015-01-01

Summary This study was conducted to assess the efficacy of oral zinc supplementation in children with intractable epilepsy. Forty-five children aged between three and 12 years and diagnosed with idiopathic intractable epilepsy at Assiut University Hospital, Assiut, Egypt were recruited. The patients were randomly allocated to two groups: the intervention group received oral zinc supplementation (1 mg/kg/day) while the placebo group received placebo, each for six months. The parents of each child filled in a detailed questionnaire that covered demographic characteristics, type of seizures, frequency, duration of seizures, previous hospital admissions, postictal phenomena and the occurrence of status epilepticus. The primary outcome (frequency of seizures) was compared between the two groups. Zinc supplementation resulted in a significant reduction of seizure frequency in 31% of the treated children. Zinc is an important trace element. Our results suggest that it has mildly beneficial effects in children with intractable epilepsy. We recommend further investigation of oral zinc supplementation as an adjunctive therapy for managing intractable epilepsy in children. Zinc therapy may be an option in treatment protocols for intractable epilepsy in the near future. PMID:26415035

First-drug treatment failures in 42 Turkish children with idiopathic childhood occipital epilepsies.

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Incecik, Faruk; Herguner, Ozlem M; Altunbasak, Sakir

2015-01-01

The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. The purpose of this study was to identify predictors of failure to respond to the initial antiepileptic drug (AED). A total of 42 children with BOEC were enrolled. Predictive factors were analyzed by survival methods. Among the 42, 25 patients (59.5%) were boys and 17 (40.5%) were girls and the mean age at the seizure onset was 7.46 ± 2.65 years (4-14 years). Of the 42 patients, 34 (81.0%) were treated relatively successfully with the first AED treatment, and 8 (19.0%) were not responded initial AED treatment. There was no correlation between response to initial AED treatment and sex, consanguinity, epilepsy history of family, age of seizure onset, frequency of seizures, history of status epilepticus, duration of starting first treatment, findings on electroencephalogram. However, history of febrile seizure and type of BOEC were significantly associated with failure risk. Factors predicting failure to respond to the AED were history of febrile seizure and type of BOEC in children with BOEC.

Ear-EEG detects ictal and interictal abnormalities in focal and generalized epilepsy

DEFF Research Database (Denmark)

Zibrandtsen, I. C.; Kidmose, P.; Christensen, C. B.

2017-01-01

-EEG and scalp-EEG from 15 patients with suspected temporal lobe epilepsy. EEGs were compared visually by independent neurophysiologists. Correlation and time-frequency analysis was used to quantify the similarity between ear and scalp electrodes. Spike-averages were used to assess similarity of interictal...... and frequency dynamics can be observed from visual inspection and time-frequency analysis. Spike averages derived from ear-EEG electrodes yield a recognizable spike appearance. Conclusions Our results suggest that ear-EEG can reliably detect electroencephalographic patterns associated with focal temporal lobe...... seizures. Interictal spike morphology from sufficiently large temporal spike sources can be sampled using ear-EEG. Significance Ear-EEG is likely to become an important tool in clinical epilepsy monitoring and diagnosis....

[Non-structural abnormalities of CNS function resulting in coincidence of endocrinopathies, epilepsy and psychoneurologic disorders in children and adolescents].

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Starzyk, Jerzy; Pituch-Noworolska, Anna; Pietrzyk, Jacek A; Urbanik, Andrzej; Kroczka, Sławomir; Drozdz, Ryszard; Wójcik, Małgorzata

2010-01-01

In the population of children and adolescents, epilepsy affects approximately 1% of cases, nonepileptic seizures are seen in approximately 3%, and endocrine disorders are several times more common. For this reason, coincidence of endocrine disorders and epilepsy and psychoneurologic disorders is frequent. Much less common are structural abnormalities (tumors, developmental abnormalities), and especially non-structural CNS abnormalities, resulting in coincidence of both disorders. There are no reports available in the literature that would address the problem. 1) Assessment of the frequency of coincidental epilepsy and endocrine disorders in patients without structural CSN abnormalities treated as outpatients and inpatients of Department of Endocrinology University Children's Hospital of Krakow. 2) Presentation of diagnostic and therapeutic difficulties in these patients, and 3) An attempt at defining the common etiology of both disorders. On the basis of ICD code patients with coincidance of endocrine disorders, epilepsy and psychoneurologic disorders were selected from several thousands of children treated between 2000 and 2009 in Pediatric Endocrinology Department. The neurologic disorders were diagnosed and treated in Chair and Department of Children's and Adolescents Neurology or in another pediatric neurology center. Various forms of epilepsy (symptomatic or idiopathic) and other psychoneurological disorders (disorders of behavior and emotions, obsession-compulsion syndromes, stereotypias, aggression, autoaggression, or hypothalamic obesity) coincident with one or more endocrine disorders, such as growth disorders, disorders of pubertal development, obesity, thyroid diseases, adrenal diseases, hyperprolactinemia, hypoparathyroidism and ion metabolism disorders were diagnosed in 49 patients. The group included: i) children after cranial irradiation and chemotherapy due to medulloblastoma (3 patients), oligodenroglioma (1 patient), ependymoma (1 patient), optic

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....

Idiopathic portal hypertension

International Nuclear Information System (INIS)

Han, Tae Kyun; Ryu, Dae Sik; Kim, Heung Chul; Hur, Hun; Eom, Kyeung Tae; Namkung, Sook; Park, Man Soo; Hwang, Woo Chul; Lee, Kwan Seop

1996-01-01

To describe the radiologic findings of idiopathic portal hypertension and to find the points of differentiation between idiopathic portal hypertension and liver cirrhosis. Four portograms in five patients who for four years had suffered from pathologically confirmed idiopathic portal hypertension were retrospectively analyzed and compared with a portogram obtained from a control subject with liver cirrhosis. Portographic finding s of idiopathic portal hypertension were paucity of medium-sized portal branches, irregular and obtuse-angled division of peripheral branches, abrupt interruption and an avascular area beneath the liver margin. A portogram of idiopathic portal hypertension may be useful in differentiation this and liver cirrhosis

Idiopathic anaphylaxis.

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Fenny, Nana; Grammer, Leslie C

2015-05-01

Idiopathic anaphylaxis is a diagnosis of exclusion after other causes have been thoroughly evaluated and excluded. The pathogenesis of idiopathic anaphylaxis remains uncertain, although increased numbers of activated lymphocytes and circulating histamine-releasing factors have been implicated. Signs and symptoms of patients diagnosed with idiopathic anaphylaxis are indistinguishable from the manifestations of other forms of anaphylaxis. Treatment regimens are implemented based on the frequency and severity of patient symptoms and generally include the use of epinephrine autoinjectors, antihistamines, and steroids. The prognosis of idiopathic anaphylaxis is generally favorable with well-established treatment regimens and effective patient education. Copyright © 2015 Elsevier Inc. All rights reserved.

First-drug treatment failures in 42 Turkish children with idiopathic childhood occipital epilepsies

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Faruk Incecik

2015-01-01

Full Text Available Background: The early and late benign occipital epilepsies of childhood (BOEC are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. The purpose of this study was to identify predictors of failure to respond to the initial antiepileptic drug (AED. Materials and Methods: A total of 42 children with BOEC were enrolled. Predictive factors were analyzed by survival methods. Results: Among the 42, 25 patients (59.5% were boys and 17 (40.5% were girls and the mean age at the seizure onset was 7.46 ± 2.65 years (4-14 years. Of the 42 patients, 34 (81.0% were treated relatively successfully with the first AED treatment, and 8 (19.0% were not responded initial AED treatment. There was no correlation between response to initial AED treatment and sex, consanguinity, epilepsy history of family, age of seizure onset, frequency of seizures, history of status epilepticus, duration of starting first treatment, findings on electroencephalogram. However, history of febrile seizure and type of BOEC were significantly associated with failure risk. Conclusions: Factors predicting failure to respond to the AED were history of febrile seizure and type of BOEC in children with BOEC.

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

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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.

Coexistence of chronic renal failure, hashimoto thyroiditis and idiopathic hypoparathyroidism: a rare case report.

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Yildiz, Saliha; Soyoral, Yasemin; Demirkiran, Davut; Ozturk, Mustafa

2014-04-01

Hypoparathyroidism is an uncommon disease and its coexistence with chronic renal failure is quite rare. Hypocalcemia and hyperphosphatemia are seen in both diseases. Diagnosis of hypoparathyroidism may be overlooked when parathormone response is not evaluated in patients with chronic renal failure. A 19-year-old female patient who had been receiving hemodialysis for 3 years because of chronic renal failure was diagnosed as idiopathic hypoparathyroidism and hashimoto thyroiditis. When her medical records on the first admission and medical history were evaluated, hypoparathyroidism and hashimoto thyroiditis were seen to be present also when she was started hemodialysis. Idiopathic hypoparathyroidism should be suspected in case as absence of parathormone response to hypocalcemia in patients with chronic renal failure. It should be taken into consideration that hashimoto thyroiditis may accompany and required analysis should be done.

Epilepsy

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... 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 ...

Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders.

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Jerzy Wegiel

Full Text Available It has been shown that amyloid ß (Aβ, a product of proteolytic cleavage of the amyloid β precursor protein (APP, accumulates in neuronal cytoplasm in non-affected individuals in a cell type-specific amount.In the present study, we found that the percentage of amyloid-positive neurons increases in subjects diagnosed with idiopathic autism and subjects diagnosed with duplication 15q11.2-q13 (dup15 and autism spectrum disorder (ASD. In spite of interindividual differences within each examined group, levels of intraneuronal Aβ load were significantly greater in the dup(15 autism group than in either the control or the idiopathic autism group in 11 of 12 examined regions (p<0.0001 for all comparisons; Kruskall-Wallis test. In eight regions, intraneuronal Aβ load differed significantly between idiopathic autism and control groups (p<0.0001. The intraneuronal Aβ was mainly N-terminally truncated. Increased intraneuronal accumulation of Aβ(17-40/42 in children and adults suggests a life-long enhancement of APP processing with α-secretase in autistic subjects. Aβ accumulation in neuronal endosomes, autophagic vacuoles, Lamp1-positive lysosomes and lipofuscin, as revealed by confocal microscopy, indicates that products of enhanced α-secretase processing accumulate in organelles involved in proteolysis and storage of metabolic remnants. Diffuse plaques containing Aβ(1-40/42 detected in three subjects with ASD, 39 to 52 years of age, suggest that there is an age-associated risk of alterations of APP processing with an intraneuronal accumulation of a short form of Aβ and an extracellular deposition of full-length Aβ in nonfibrillar plaques.The higher prevalence of excessive Aβ accumulation in neurons in individuals with early onset of intractable seizures, and with a high risk of sudden unexpected death in epilepsy in autistic subjects with dup(15 compared to subjects with idiopathic ASD, supports the concept of mechanistic and functional links

Report of a parent survey of cannabidiol-enriched cannabis use in pediatric treatment-resistant epilepsy.

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Porter, Brenda E; Jacobson, Catherine

2013-12-01

Severe childhood epilepsies are characterized by frequent seizures, neurodevelopmental delays, and impaired quality of life. In these treatment-resistant epilepsies, families often seek alternative treatments. This survey explored the use of cannabidiol-enriched cannabis in children with treatment-resistant epilepsy. The survey was presented to parents belonging to a Facebook group dedicated to sharing information about the use of cannabidiol-enriched cannabis to treat their child's seizures. Nineteen responses met the following inclusion criteria for the study: a diagnosis of epilepsy and current use of cannabidiol-enriched cannabis. Thirteen children had Dravet syndrome, four had Doose syndrome, and one each had Lennox-Gastaut syndrome and idiopathic epilepsy. The average number of antiepileptic drugs (AEDs) tried before using cannabidiol-enriched cannabis was 12. Sixteen (84%) of the 19 parents reported a reduction in their child's seizure frequency while taking cannabidiol-enriched cannabis. Of these, two (11%) reported complete seizure freedom, eight (42%) reported a greater than 80% reduction in seizure frequency, and six (32%) reported a 25-60% seizure reduction. Other beneficial effects included increased alertness, better mood, and improved sleep. Side effects included drowsiness and fatigue. Our survey shows that parents are using cannabidiol-enriched cannabis as a treatment for their children with treatment-resistant epilepsy. Because of the increasing number of states that allow access to medical cannabis, its use will likely be a growing concern for the epilepsy community. Safety and tolerability data for cannabidiol-enriched cannabis use among children are not available. Objective measurements of a standardized preparation of pure cannabidiol are needed to determine whether it is safe, well tolerated, and efficacious at controlling seizures in this pediatric population with difficult-to-treat seizures. © 2013.

Evaluation of idiopathic transverse myelitis revealing specific myelopathy diagnoses.

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Zalewski, Nicholas L; Flanagan, Eoin P; Keegan, B Mark

2018-01-09

To evaluate specific myelopathy diagnoses made in patients with suspected idiopathic transverse myelitis (ITM). A total of 226 patients 18 years and older were referred to Mayo Clinic Neurology for suspected ITM from December 1, 2010, to December 31, 2015. Electronic medical records were reviewed for detailed clinical presentation and course, laboratory and electrophysiologic investigations, and neuroimaging to determine the etiology. Current diagnostic criteria for ITM and alternative myelopathy diagnoses were applied. All cases where any discrepancy was suspected from the final reported clinical diagnosis were reviewed by each author and a consensus final diagnosis was made. The diagnostic criteria for ITM were met in 41 of 226 patients (18.1%). In 158 patients (69.9%), an alternative specific myelopathy diagnosis was made: multiple sclerosis or clinically isolated syndrome, 75; vascular myelopathy, 41; neurosarcoidosis, 12; neuromyelitis optica spectrum disorder, 12; myelin oligodendrocyte glycoprotein myelopathy, 5; neoplastic, 4; compressive, 3; nutritional, 3; infectious, 2; and other, 2. A myelopathy was not confirmed in 27 patients. Time from symptom onset to final clinical diagnosis in patients without ITM was a median of 9 months (range 0-288). Fifty-five patients (24%) required treatment changes according to their final clinical diagnosis. The majority of patients with suspected ITM have an alternative specific myelopathy diagnosis. A presumptive diagnosis of ITM can lead to premature diagnostic conclusions affecting patient treatment. Copyright © 2017 American Academy of Neurology.

Epilepsy

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... 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

On the relationship between calcified neurocysticercosis and epilepsy in an endemic village: A large-scale, computed tomography-based population study in rural Ecuador.

Science.gov (United States)

Del Brutto, Oscar H; Arroyo, Gianfranco; Del Brutto, Victor J; Zambrano, Mauricio; García, Héctor H

2017-11-01

Using a large-scale population-based study, we aimed to assess prevalence and patterns of presentation of neurocysticercosis (NCC) and its relationship with epilepsy in community-dwellers aged ≥20 years living in Atahualpa (rural Ecuador). In a three-phase epidemiological study, individuals with suspected seizures were identified during a door-to-door survey and an interview (phase I). Then, neurologists evaluated suspected cases and randomly selected negative persons to estimate epilepsy prevalence (phase II). In phase III, all participants were offered noncontrast computed tomography (CT) for identifying NCC cases. The independent association between NCC (exposure) and epilepsy (outcome) was assessed by the use of multivariate logistic regression models adjusted for age, sex, level of education, and alcohol intake. CT findings were subsequently compared to archived brain magnetic resonance imaging in a sizable subgroup of participants. Of 1,604 villagers aged ≥20 years, 1,462 (91%) were enrolled. Forty-one persons with epilepsy (PWE) were identified, for a crude prevalence of epilepsy of 28 per 1,000 population (95% confidence interval [CI] = 20.7-38.2). A head CT was performed in 1,228 (84%) of 1,462 participants, including 39 of 41 PWE. CT showed lesions consistent with calcified parenchymal brain cysticerci in 118 (9.6%) cases (95% CI = 8.1-11.4%). No patient had other forms of NCC. Nine of 39 PWE, as opposed to 109 of 1,189 participants without epilepsy, had NCC (23.1% vs. 9.2%, p = 0.004). This difference persisted in the adjusted logistic regression model (odds ratio = 3.04, 95% CI = 1.35-6.81, p = 0.007). This large CT-based study demonstrates that PWE had three times the odds of having NCC than those without epilepsy, providing robust epidemiological evidence favoring the relationship between NCC and epilepsy. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Idiopathic Ophthalmodynia and Idiopathic Rhinalgia: A Prospective Series of 16 New Cases.

Science.gov (United States)

Pareja, Juan A; Montojo, Teresa; Guerrero, Ángel L; Álvarez, Mónica; Porta-Etessam, Jesús; Cuadrado, María L

2015-01-01

Idiopathic ophthalmodynia and idiopathic rhinalgia were described a few years ago. These conditions seem specific pain syndromes with a distinctive location in the eye or in the nose. We aimed to present a new prospective series in order to verify the consistency of these syndromes. We performed a descriptive study of all patients referred to our regional neurologic clinics from 2010 to 2014 because of facial pain exclusively felt in the eye or in the nose fulfilling the proposed diagnostic criteria for idiopathic ophthalmodynia and idiopathic rhinalgia. There were 9 patients with idiopathic ophthalmodynia and 7 patients with idiopathic rhinalgia, with a clear female preponderance, and a mean age at onset in the fifth decade. The pain was usually moderate and the temporal pattern was generally chronic. Only one patient reported accompaniments (hypersensitivity to the light and to the flow of air in the symptomatic eye). Preventive treatment with amitriptyline, pregabalin, or gabapentin was partially or totally effective. The clinical features of this new series parallels those of the original description, thus indicating that both idiopathic ophthalmodynia and idiopathic rhinalgia have clear-cut clinical pictures with excellent consistency both inter- and intra-individually. © 2015 American Headache Society.

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

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Heinzen, Erin L; Radtke, Rodney A; Urban, Thomas J; Cavalleri, Gianpiero L; Depondt, Chantal; Need, Anna C; Walley, Nicole M; Nicoletti, Paola; Ge, Dongliang; Catarino, Claudia B; Duncan, John S; Kasperaviciūte, Dalia; Tate, Sarah K; Caboclo, Luis O; Sander, Josemir W; Clayton, Lisa; Linney, Kristen N; Shianna, Kevin V; Gumbs, Curtis E; Smith, Jason; Cronin, Kenneth D; Maia, Jessica M; Doherty, Colin P; Pandolfo, Massimo; Leppert, David; Middleton, Lefkos T; Gibson, Rachel A; Johnson, Michael R; Matthews, Paul M; Hosford, David; Kälviäinen, Reetta; Eriksson, Kai; Kantanen, Anne-Mari; Dorn, Thomas; Hansen, Jörg; Krämer, Günter; Steinhoff, Bernhard J; Wieser, Heinz-Gregor; Zumsteg, Dominik; Ortega, Marcos; Wood, Nicholas W; Huxley-Jones, Julie; Mikati, Mohamad; Gallentine, William B; Husain, Aatif M; Buckley, Patrick G; Stallings, Ray L; Podgoreanu, Mihai V; Delanty, Norman; Sisodiya, Sanjay M; Goldstein, David B

2010-05-14

Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls. Large deletions (> 100 kb) at 16p13.11 were observed in 23 patients, whereas no control had a deletion greater than 16 kb. Patients, even those with identically sized 16p13.11 deletions, presented with highly variable epilepsy phenotypes. For a subset of patients with a 16p13.11 deletion, we show a consistent reduction of expression for included genes, suggesting that haploinsufficiency might contribute to pathogenicity. We also investigated another possible mechanism of pathogenicity by using hybridization-based capture and next-generation sequencing of the homologous chromosome for ten 16p13.11-deletion patients to look for unmasked recessive mutations. Follow-up genotyping of suggestive polymorphisms failed to identify any convincing recessive-acting mutations in the homologous interval corresponding to the deletion. The observation that two of the 16p13.11 deletions were larger than 2 Mb in size led us to screen for other large deletions. We found 12 additional genomic regions harboring deletions > 2 Mb in epilepsy patients, and none in controls. Additional evaluation is needed to characterize the role of these exceedingly large, non-locus-specific deletions in epilepsy. Collectively, these data implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions. Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

A single-blinded phenobarbital-controlled trial of levetiracetam as mono-therapy in dogs with newly diagnosed epilepsy.

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Fredsø, N; Sabers, A; Toft, N; Møller, A; Berendt, M

2016-02-01

Treatment of canine epilepsy is problematic. Few antiepileptic drugs have proven efficacy in dogs and undesirable adverse effects and pharmacoresistance are not uncommon. Consequently, the need for investigation of alternative treatment options is ongoing. The objective of this study was to investigate the efficacy and tolerability of levetiracetam as mono-therapy in dogs with idiopathic epilepsy. The study used a prospective single-blinded parallel group design. Twelve client-owned dogs were included and were randomised to treatment with levetiracetam (30 mg/kg/day or 60 mg/kg/day divided into three daily dosages) or phenobarbital (4 mg/kg/day divided twice daily). Control visits were at days 30, 60 and then every 3 months for up to 1 year. Two or more seizures within 3 months led to an increase in drug dosage (levetiracetam: 10 mg/kg/day, phenobarbital: 1 mg/kg/day). Five of six levetiracetam treated dogs and one of six phenobarbital treated dogs withdrew from the study within 2-5 months due to insufficient seizure control. In the levetiracetam treated dogs there was no significant difference in the monthly number of seizures before and after treatment, whereas in the phenobarbital treated dogs there were significantly (P = 0.013) fewer seizures after treatment. Five phenobarbital treated dogs were classified as true responders (≥50% reduction in seizures/month) whereas none of the levetiracetam treated dogs fulfilled this criterion. Adverse effects were reported in both groups but were more frequent in the phenobarbital group. In this study levetiracetam was well tolerated but was not effective at the given doses as mono-therapy in dogs with idiopathic epilepsy. Copyright © 2015 Elsevier Ltd. All rights reserved.

Use of statistical parametric mapping of 18F-FDG-PET in frontal lobe epilepsy

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Plotkin, M.; Amthauer, H.; Luedemann, L.; Hartkop, E.; Ruf, J.; Gutberlet, M.; Bertram, H.; Felix, R.; Venz, St.; Merschhemke, M.; Meencke, H.-J.

2003-01-01

Aim: Evaluation of the use of statistical parametrical mapping (SPM) of FDG-PET for seizure lateralization in frontal lobe epilepsy. Patients: 38 patients with suspected frontal lobe epilepsy supported by clinical findings and video-EEG monitoring. Method: Statistical parametrical maps were generated by subtraction of individual scans from a control group, formed by 16 patients with negative neurological/psychiatric history and no abnormalities in the MR scan. The scans were also analyzed visually as well as semiquantitatively by manually drawn ROIs. Results: SPM showed a better accordance to the results of surface EEG monitoring compared with visual scan analysis and ROI quantification. In comparison with intracranial EEG recordings, the best performance was achieved by combining the ROI based quantification with SPM analysis. Conclusion: These findings suggest that SPM analysis of FDG-PET data could be a useful as complementary tool in the evaluation of seizure focus lateralization in patients with supposed frontal lobe epilepsy. (orig.)

Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood

DEFF Research Database (Denmark)

Pavlidis, Elena; Rubboli, Guido; Nikanorova, Marina

2015-01-01

Encephalopathy with status epilepticus during sleep (ESES) is an age-related disorder characterized by neuropsychological regression, epilepsy and a typical EEG pattern of continuous epileptiform activity (> 85%) during NREM sleep. Cases of worsening or induction of ESES with phenytoin...

The clinical and neurophysiological characteristics of the deja vu phenomenon in epilepsy

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P. N. Vlasov

2012-01-01

Full Text Available Objective: to study the clinical and neurophysiological characteristics of the deja vu phenomenon in epilepsy. Patients and methods. The manifestations of the dВjЕ vu phenomenon were compared in 154 examinees in two groups: 1 139 healthy individuals and 2 25 patients with epilepsy (mean age 25.17±9.19 years; women, 63.2% The characteristics of the phenomenon were determined, by questioning the examinees; 12—16-hour ambulatory electroencephalogram (EEG monitoring was made. Results. The deja vu phenomenon occurred with cryptogenic and symptomatic focal epilepsy with equal frequency; however, the phenomenon was also seen in the idiopathic generalized form of the latter and could be concurrent virtually with any types of seizures and observed as an individual seizure and in the structure of a partial and secondarily generalized seizure. In epileptic patients, the main clinical characteristics of the deja vu vu phenomenon are its frequency, fear before its onset, and emotional coloring. The most important criterion is a change in the characteristics of deja vu vu: prolongation, more frequencies, and the emergence of negative emotions. On EEG, the phenomenon was characterized by the onset of polyspike activity in the right temporal leads and, in some cases, ended with slow-wave, theta-delta activity in the right hemisphere.

A retrospective diagnosis of epilepsy in three historical figures: St Paul, Joan of Arc and Socrates.

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Muhammed, Louwai

2013-11-01

It has been suggested that undiagnosed epilepsy profoundly influenced the lives of several key figures in history. Historical sources recounting strange voices and visions may in fact have been describing manifestations of epileptic seizures rather than more supernatural phenomena. Well-documented accounts of such experiences exist for three individuals in particular: Socrates, St Paul and Joan of Arc. The great philosopher Socrates described a 'daimonion' that would visit him throughout his life. This daimonion may have represented recurrent simple partial seizures, while the peculiar periods of motionlessness for which Socrates was well known may have been the result of co-existing complex partial seizures. St Paul's religious conversion on the Road to Damascus may have followed a temporal lobe seizure which would account for the lights, voices, blindness and even the religious ecstasy he described. Finally, Joan of Arc gave a detailed narrative on the voices she heard from childhood during her Trial of Condemnation. Her auditory hallucinations appear to follow sudden acoustic stimuli in a way reminiscent of idiopathic partial epilepsy with auditory features. By analysing passages from historical texts, it is possible to argue that Socrates, St Paul and Joan of Arc each had epilepsy.

Idiopathic portal hypertension regarding thiopurine treatment in patients with inflammatory bowel disease.

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Suárez Ferrer, Cristina; Llop Herrera, Elba; Calvo Moya, Marta; Vera Mendoza, María Isabel; González Partida, Irene; González Lama, Yago; Matallana Royo, Virginia; Calleja Panero, José Luis; Abreu García, Luis

2016-02-01

The possibility of developing idiopathic portal hypertension has been described with thiopurine treatment despite compromises the prognosis of these patients, the fact its true prevalence is unknown. A cross-sectional study was conducted in a cohort of inflammatory bowel disease (IBD) patients followed at our unit, to determine the prevalence of diagnosis of idiopathic portal hypertension (IPH) and its relationship with thiopurine treatment. At the time of the analysis, 927/1,419 patients were under treatment with thiopurine drugs (65%). A total of 4 patients with IBD type Crohn's disease with idiopathic portal hypertension probably related to the thiopurine treatment were identified (incidence of 4.3 cases per 1,000). Seventy-five percent of patients started with signs or symptoms of portal hypertension. Only one patient was asymptomatic but the diagnosis of IPH because of isolated thrombocytopenia is suspected. However, note that all patients had thrombocytopenia previously. Abdominal ultrasound with fibroscan, hepatic vein catheterization and liver biopsy were performed on all of them as part of the etiology of portal hypertension. In the abdominal ultrasound, indirect portal hypertension data were observed in all patients (as splenomegaly) cirrhosis was also ruled out. The fibroscan data showed significant liver fibrosis (F2-F3). Idiopathic portal hypertension following thiopurine treatment in IBD patients is a rare occurrence, but it must be borne in mind in the differential diagnosis for early diagnosis, especially in patients undergoing thiopurine treatment over a long period. The presence of thrombocytopenia is often the only predictor of its development in the preclinical stage.

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

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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.

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

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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.

The long-term effect of listening to Mozart K.448 decreases epileptiform discharges in children with epilepsy.

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Lin, Lung-Chang; Lee, Wei-Te; Wu, Hui-Chuan; Tsai, Chin-Lin; Wei, Ruey-Chang; Mok, Hin-Kiu; Weng, Chia-Fen; Lee, Mei-wen; Yang, Rei-Cheng

2011-08-01

Mozart's Sonata for Two Pianos in D major, K.448 (Mozart K.448), has been shown to improve mental function, leading to what is known as the Mozart Effect. Our previous work revealed that epileptiform discharges in children with epilepsy decrease during and right after listening to Mozart K.448. However, the duration of the effect was not studied. In the study described here, we evaluated the long-term effect of Mozart K.448 on epileptiform discharges in children with epilepsy. Eighteen children with epilepsy whose seizures were clinically well controlled with antiepileptic drugs were included. For each child, EEGs had revealed persistent epileptiform discharges for at least 6 months. These patients listened to Mozart K.448 for 8 minutes once a day before bedtime for 6 months. Epileptiform discharges were recorded and compared before and after 1, 2, and 6 months of listening to Mozart K.448. All of the children remained on the same antiepileptic drug over the 6 months. Relationships between number of epileptiform discharges and foci of discharges, intelligence, epilepsy etiology, age, and gender were analyzed. Epileptiform discharges significantly decreased by 53.2±47.4, 64.4±47.1, and 71.6±45.8%, respectively, after listening to Mozart K.448 for 1, 2, and 6 months. All patients except those with occipital discharges showed a significant decrease in epileptiform discharges. Patients with normal intelligence and idiopathic epilepsy had greater decreases than those with mental retardation and symptomatic epilepsy. Age and gender did not affect the results. We conclude that long-term listening to Mozart K.448 may be effective in decreasing epileptiform discharges in children with epilepsy in a chronologically progressive manner. Copyright © 2011 Elsevier Inc. All rights reserved.

Visual and auditory socio-cognitive perception in unilateral temporal lobe epilepsy in children and adolescents: a prospective controlled study.

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Laurent, Agathe; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Sfaello, Ignacio; Kahane, Philippe; Ryvlin, Philippe; Hirsch, Edouard; de Schonen, Scania

2014-12-01

A high rate of abnormal social behavioural traits or perceptual deficits is observed in children with unilateral temporal lobe epilepsy. In the present study, perception of auditory and visual social signals, carried by faces and voices, was evaluated in children or adolescents with temporal lobe epilepsy. We prospectively investigated a sample of 62 children with focal non-idiopathic epilepsy early in the course of the disorder. The present analysis included 39 children with a confirmed diagnosis of temporal lobe epilepsy. Control participants (72), distributed across 10 age groups, served as a control group. Our socio-perceptual evaluation protocol comprised three socio-visual tasks (face identity, facial emotion and gaze direction recognition), two socio-auditory tasks (voice identity and emotional prosody recognition), and three control tasks (lip reading, geometrical pattern and linguistic intonation recognition). All 39 patients also benefited from a neuropsychological examination. As a group, children with temporal lobe epilepsy performed at a significantly lower level compared to the control group with regards to recognition of facial identity, direction of eye gaze, and emotional facial expressions. We found no relationship between the type of visual deficit and age at first seizure, duration of epilepsy, or the epilepsy-affected cerebral hemisphere. Deficits in socio-perceptual tasks could be found independently of the presence of deficits in visual or auditory episodic memory, visual non-facial pattern processing (control tasks), or speech perception. A normal FSIQ did not exempt some of the patients from an underlying deficit in some of the socio-perceptual tasks. Temporal lobe epilepsy not only impairs development of emotion recognition, but can also impair development of perception of other socio-perceptual signals in children with or without intellectual deficiency. Prospective studies need to be designed to evaluate the results of appropriate re

Vascular factors in suspected normal pressure hydrocephalus

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Agerskov, Simon; Rabiei, Katrin; Marlow, Thomas; Jensen, Christer; Guo, Xinxin; Kern, Silke; Wikkelsø, Carsten; Skoog, Ingmar

2016-01-01

Objective: We examined clinical and imaging findings of suspected idiopathic normal pressure hydrocephalus (iNPH) in relation to vascular risk factors and white matter lesions (WMLs), using a nested case-control design in a representative, population-based sample. Methods: From a population-based sample, 1,235 persons aged 70 years or older were examined with CT of the brain between 1986 and 2000. We identified 55 persons with hydrocephalic ventricular enlargement, i.e., radiologic findings consistent with iNPH. Among these, 26 had clinical signs that fulfilled international guideline criteria for probable iNPH. These cases were labeled suspected iNPH. Each case was matched to 5 controls from the same sample, based on age, sex, and study cohort. Data on risk factors were obtained from clinical examinations and the Swedish Hospital Discharge Register. History of hypertension, diabetes mellitus (DM), smoking, overweight, history of coronary artery disease, stroke/TIA, and WMLs on CT were examined. Risk factors associated with iNPH with a p value <0.1 in χ2 tests were included in conditional logistic regression models. Results: In the regression analyses, suspected iNPH was related to moderate to severe WMLs (odds ratio [OR] 5.2; 95% confidence interval [CI]: 1.5–17.6), while hydrocephalic ventricular enlargement was related to hypertension (OR 2.7; 95% CI: 1.1–6.8), moderate to severe WMLs (OR 6.5; 95% CI: 2.1–20.3), and DM (OR 4.3; 95% CI: 1.1–16.3). Conclusions: Hypertension, WMLs, and DM were related to clinical and imaging features of iNPH, suggesting that vascular mechanisms are involved in the pathophysiology. These findings might have implications for understanding disease mechanisms in iNPH and possibly prevention. PMID:26773072

Idiopathic non-cirrhotic portal hypertension

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CHEN Jie

2013-07-01

Full Text Available The pathogenesis of idiopathic non-cirrhotic portal hypertension (INCPH remains unknown and the disease is diagnosed by the absence of recognized clinical indicators of cirrhosis and of any other known etiologies of portal hypertension. To promote understanding of this disease, a comprehensive overview of potential etiologies, clinical manifestations, histopathological features, methods of diagnosis and potential differential diagnoses, and outcome of clinical management is presented in this review. In particular, we discuss the findings from INCPH studies and their implications in regards to each of the above-mentioned categories. For example, associations with various comorbidities have suggested a possible immune system component to INCPH development and/or progression. In addition, the common clinical characteristics of patients upon presentation can not only help to recognize disease suspects but may also provide insights into the pathogenesis and prognosis. Finally, prognosis following the various intervention strategies appears to depend mainly on severity of the portal hypertension, as well as its various accompanying complications.

Is ketogenic diet treatment hepatotoxic for children with intractable epilepsy?

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Arslan, Nur; Guzel, Orkide; Kose, Engin; Yılmaz, Unsal; Kuyum, Pınar; Aksoy, Betül; Çalık, Tansel

2016-12-01

Long-term ketogenic diet (KD) treatment has been shown to induce liver steatosis and gallstone formation in some in vivo and clinical studies. The aim of this retrospective study was to evaluate the hepatic side effects of KD in epileptic children. A total of 141 patients (mean age: 7.1±4.1years [2-18 years], 45.4% girls), receiving KD at least one year for intractable epilepsy due to different diagnoses (congenital brain defects, GLUT-1 deficiency, West syndrome, tuberous sclerosis, hypoxic brain injury, etc.) were included in the study. Serum triglyceride, cholesterol, aminotransferase, bilirubin, protein and albumin levels and abdominal ultrasonography were recorded before and at 1, 3, 6, and 12 months following after diet initiation. The mean duration of KD was 15.9±4.3months. At one month of therapy, three patients had elevated alanine and aspartate aminotransferase levels. These patients were receiving ketogenic diet for Doose syndrome, idiopathic epilepsy and GLUT-1 deficiency. Hepatosteatosis was detected in three patients at 6 months of treatment. Two of these patients were treated with KD for the primary diagnosis of tuberous sclerosis and one for Landau Kleffner syndrome. Cholelithiasis was detected in two patients at 12 months of treatment. They were receiving treatment for West syndrome and hypoxic brain injury sequelae. Long-term ketogenic diet treatment stimulates liver parenchymal injury, hepatic steatosis and gallstone formation. Patients should be monitored by screening liver enzymes and abdominal ultrasonography in order to detect these side effects. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Epilepsy

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... 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 ...

Glymphatic MRI in idiopathic normal pressure hydrocephalus.

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Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

2017-10-01

The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer's disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic function. In

Epilepsy: Indian perspective

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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.

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...

Epilepsy

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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, ...

Adolescent Idiopathic Scoliosis

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Safak Ekinci

2014-06-01

Full Text Available Scoliosis is called idiopathic when no other underlying disease can be identified. The etiology of adolescent idiopathic scoliosis (AIS is still unknown despite many years of research effort. Theories on AIS's etiology have included mechanical, hormonal, metabolic, neuromuscular, growth, and genetic abnormalities. Skeletally immature patients with adolescent idiopathic scoliosis are at risk of curve progression. The adolescent onset of severe idiopathic scoliosis has traditionally been evaluated using standing posteroanterior radiographs of the full spine to assess lateral curvature with the Cobb method. Scoliosis in children of school age and above primarily occurs in girls. The therapeutic goal in children is to prevent progression. In children, scoliosis of 20 and deg; or more should be treated with a brace, and scoliosis of 45 and deg; or more with surgery. [Arch Clin Exp Surg 2014; 3(3.000: 174-182

Epilepsy and driving

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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.

Depressogenic medications and other risk factors for depression among Polish patients with epilepsy

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Bosak M

2015-09-01

Full Text Available Magdalena Bosak,1 Wojciech Turaj,1 Dominika Dudek,2 Marcin Siwek,2 Andrzej Szczudlik1 1Department of Neurology, 2Department of Psychiatry, Jagiellonian University Medical College, Krakow, Poland Purpose: The aim of this study was to assess the prevalence of depression among patients with epilepsy and to establish the risk factors of depression in that group, with special focus on the use of potentially depressogenic medications. Patients and methods: We studied 289 consecutive patients who visited epilepsy outpatient clinic (University Hospital of Krakow and met inclusion criteria. All patients were screened with Beck Depression Inventory (BDI, and those with BDI score ≥12 were further evaluated by a psychiatrist. Results: Mean age of patients was 35.7 years, and mean duration of epilepsy was 14.7 years. Idiopathic generalized epilepsy was diagnosed in 63 patients (21.8%, focal epilepsy was found in 189 subjects (65.4%, and unclassified epilepsy was diagnosed in 37 patients (12.8%. Frequent seizures (>1 per month were reported in 107 patients (37.0%. Thirty-five patients (12.1% reported an ongoing treatment with one or more of the predefined potentially depressogenic medication (ß-blockers, combined estrogen and progestogen, corticosteroid, or flunarizine. In a group of 115 patients (39.8% who scored ≥12 points in BDI, depression was finally diagnosed in 84 subjects (29.1% after psychiatric evaluation. Only 20 of those patients (23.8% were treated with antidepressant. Independent variables associated with the diagnosis of depression in the logistic regression model included frequent seizures (odds ratio [OR] =2.43 [95% confidence interval, 95% CI =1.38–4.29], P=0.002, use of potentially depression-inducing medications (OR =3.33 [95% CI =1.50–7.39], P=0.003, age (OR =1.03 [95% CI =1.01–1.05] per year], P=0.005, and use of oxcarbazepine (OR =2.26 [95% CI =1.04–4.9], P=0.038. Conclusion: The prevalence of depression among consecutive

Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis.

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Caeyenberghs, K; Powell, H W R; Thomas, R H; Brindley, L; Church, C; Evans, J; Muthukumaraswamy, S D; Jones, D K; Hamandi, K

2015-01-01

Juvenile myoclonic epilepsy (JME) is a common idiopathic (genetic) generalized epilepsy (IGE) syndrome characterized by impairments in executive and cognitive control, affecting independent living and psychosocial functioning. There is a growing consensus that JME is associated with abnormal function of diffuse brain networks, typically affecting frontal and fronto-thalamic areas. Using diffusion MRI and a graph theoretical analysis, we examined bivariate (network-based statistic) and multivariate (global and local) properties of structural brain networks in patients with JME (N = 34) and matched controls. Neuropsychological assessment was performed in a subgroup of 14 patients. Neuropsychometry revealed impaired visual memory and naming in JME patients despite a normal full scale IQ (mean = 98.6). Both JME patients and controls exhibited a small world topology in their white matter networks, with no significant differences in the global multivariate network properties between the groups. The network-based statistic approach identified one subnetwork of hyperconnectivity in the JME group, involving primary motor, parietal and subcortical regions. Finally, there was a significant positive correlation in structural connectivity with cognitive task performance. 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.

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 ...

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Science.gov (United States)

Damiano, John A; Burgess, Rosemary; Kivity, Sara; Lerman-Sagie, Tally; Afawi, Zaid; Scheffer, Ingrid E; Berkovic, Samuel F; Hildebrand, Michael S

2017-03-01

Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders. We detected a novel nonsense mutation (c.2314 C>T; p.Arg712*) in one Ashkenazi Jewish family, the male proband of which had a severe epileptic encephalopathy with continuous spike-waves in sleep (ECSWS). His affected brother also had ECSWS with better outcome, whereas the sister had childhood epilepsy with centrotemporal spikes. This mutation segregated in the three affected siblings in an X-linked manner, inherited from their mother who had febrile seizures. Although the frequency of point mutation is low, CNKSR2 sequencing should be considered in families with suspected X-linked EAS because of the specific genetic counseling implications. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

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...

Idiopathic Retroperitoneal Hematoma

African Journals Online (AJOL)

6. Stewart BT, McLaughlin SJ, Thompson GA. Spontaneous retroperitoneal haemorrhage:a general surgeon's perspective. Aust N. Z J Surg 1998;68:371-3. Monib, et al.: Idiopathic retroperitoneal hematoma. How to cite this article: Monib S, Ritchie A, Thabet E. Idiopathic retroperitoneal hematoma. J Surg Tech Case Report ...

Incidence of sudden unexpected death in epilepsy in community-based cohort in China.

Science.gov (United States)

Ge, Yan; Ding, Ding; Zhang, Qing; Yang, Bin; Wang, Taiping; Li, Beixu; Wang, Jie; Luo, Jianfeng; Kwan, Patrick; Wang, Wenzhi; Hong, Zhen; Sander, Josemir W

2017-11-01

Sudden unexpected death in epilepsy (SUDEP) is associated with the high premature mortality observed among people with epilepsy. It is, however, considered a rare event in China, probably because of lack of awareness and limitation of studies in the country. We aimed to provide some initial estimation of the burden of SUDEP in China. We established a large Chinese community-based cohort of people with epilepsy between January 2010 and December 2011. For any participant who died during follow-up, detailed information on cause of death was obtained using a specifically designed Verbal Autopsy Questionnaire. All cases were reviewed by a multidisciplinary expert panel and reinvestigated if necessary. Sudden unexpected death in epilepsy incidence rates were estimated and case details provided. The cohort consisted of 1562 people and during a median 5years follow-up, 72 deaths were reported. The all-causes death incidence was 11.23 (95% CI 8.86-14.07) per 1000 person-years. Fifteen died suddenly and unexpectedly in a reasonable state of health in the week preceding death. We recorded detailed information of these 15 deaths. Thirteen were considered to be probable SUDEP and two possible SUDEP. The incidence of probable SUDEP was 2.03 (95% CI 1.13-3.38) per 1000 person-years, and the incidence of all suspected (probable and possible) SUDEP was 2.34 (95% CI 1.36-3.77) per 1000 person-years. The incidence of SUDEP was relatively high among Chinese people with epilepsy when compared with that in previous community-based studies from high-income countries. The burden of SUDEP in China requires further assessments. Copyright © 2017 Elsevier Inc. All rights reserved.

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.

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...

Genetics Home Reference: adolescent idiopathic scoliosis

Science.gov (United States)

... Facebook Twitter Home Health Conditions Adolescent idiopathic scoliosis Adolescent idiopathic scoliosis Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Adolescent idiopathic scoliosis is an abnormal curvature of the ...

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

Science.gov (United States)

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

2016-02-01

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

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.

To treat or not to treat drug-refractory epilepsy by the ketogenic diet? That is the question.

Science.gov (United States)

Ułamek-Kozioł, Marzena; Pluta, Ryszard; Bogucka-Kocka, Anna; Czuczwar, Stanisław J

2016-12-23

Epilepsy is a serious neurologic disorder worldwide which affects about 1% of the population (ca. 50 million people), the highest prevalence occurring in both children and elderly. Apart from idiopathic forms, etiology of the disease involves multiple brain risk factors - the most frequent being cerebrovascular diseases, tumours and traumatic injuries. Several treatment options exist, including, for instance, pharmacotherapy, vagal nerve stimulation or epilepsy surgery. In spite of treatment, about 30% of patients with epilepsy still have seizures and become drug-refractory. This is why other treatment options may be recommended, and ketogenic diet seems a last-chance method, especially in children and adolescents with epilepsy. The diet contains high amounts of fat and low carbohydrates with vitamin supplementation. The elevated concentrations of ketones induced by the diet may result in inhibition of the synaptic activity of glutamate, the mammalian target of the rapamycin pathway, and activation of adenosine triphosphate-sensitive potassium channels. One of the main ketones is acetone, shown to increase the seizure threshold and potentiate the anticonvulsant activity of some antiepileptic drugs. The clinical effectiveness of the ketogenic diet has been confirmed in a number of clinical trials carried out mainly on children. A wider use of the ketogenic diet may be limited by the number of early adverse effects (gastrointestinal distress, acidosis, hypoglycaemia, dehydration and lethargy), and late adverse effects (hyperuricaemia, hyperlipidaemia, kidney stones, easy bruising, and decreases in height and weight). Recently, data are available on the negative impact of the ketogenic diet on the qualitative characteristics of lipoprotein subfractions which points to the atherogenic fenotype as a new side-effect. In conclusion, future research directed to the proper identification of patients (in terms of age, epilepsy type and duration, recommended antiepileptic

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.

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 ...

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.

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.

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 ...

Juvenile Idiopathic Arthritis

Directory of Open Access Journals (Sweden)

Kenan Barut

2017-04-01

Full Text Available Juvenile idiopathic arthritis is the most common chronic rheumatic disease of unknown aetiology in childhood and predominantly presents with peripheral arthritis. The disease is divided into several subgroups, according to demographic characteristics, clinical features, treatment modalities and disease prognosis. Systemic juvenile idiopathic arthritis, which is one of the most frequent disease subtypes, is characterized by recurrent fever and rash. Oligoarticular juvenile idiopathic arthritis, common among young female patients, is usually accompanied by anti-nuclear antibodie positivity and anterior uveitis. Seropositive polyarticular juvenile idiopathic arthritis, an analogue of adult rheumatoid arthritis, is seen in less than 10% of paediatric patients. Seronegative polyarticular juvenile idiopathic arthritis, an entity more specific for childhood, appears with widespread large- and small-joint involvement. Enthesitis-related arthritis is a separate disease subtype, characterized by enthesitis and asymmetric lower-extremity arthritis. This disease subtype represents the childhood form of adult spondyloarthropathies, with human leukocyte antigen-B27 positivity and uveitis but commonly without axial skeleton involvement. Juvenile psoriatic arthritis is characterized by a psoriatic rash, accompanied by arthritis, nail pitting and dactylitis. Disease complications can vary from growth retardation and osteoporosis secondary to treatment and disease activity, to life-threatening macrophage activation syndrome with multi-organ insufficiency. With the advent of new therapeutics over the past 15 years, there has been a marked improvement in juvenile idiopathic arthritis treatment and long-term outcome, without any sequelae. The treatment of juvenile idiopathic arthritis patients involves teamwork, including an experienced paediatric rheumatologist, an ophthalmologist, an orthopaedist, a paediatric psychiatrist and a physiotherapist. The primary goals

The Cacna1h mutation in the GAERS model of absence epilepsy enhances T-type Ca2+ currents by altering calnexin-dependent trafficking of Ca(v)3.2 channels

Czech Academy of Sciences Publication Activity Database

Proft, Juliane; Rzhepetskyy, Yuriy; Lazniewska, Joanna; Zhang, F. X.; Cain, S. M.; Snutch, T. P.; Zamponi, G. W.; Weiss, Norbert

2017-01-01

Roč. 7, Sep 14 (2017), č. článku 11513. ISSN 2045-2322 R&D Projects: GA ČR GA15-13556S; GA MŠk 7AMB15FR015 Institutional support: RVO:61388963 Keywords : asparagine-linked glycosylation * idiopathic generalized epilepsies * voltage-activated currents Subject RIV: ED - Physiology OBOR OECD: Physiology (including cytology) Impact factor: 4.259, year: 2016 https://www.nature.com/articles/s41598-017-11591-5

Predictive values of F-18-FDG PET and ictal SPECT to find epileptogenic zones in cryptogenic neocortical epilepsies

International Nuclear Information System (INIS)

Lee, D. S.; Lee, S. K.; Jeong, Z. K.; Kim, H. Z.; Lee, M. C.; Ko, C. S.

1997-01-01

Though cumulated reported sensitivity were 33% (F-18-FDG PET) and 81%(ictal SPECT) in neocortical epilepsy, positive predictive values rather than sensitivity should be referred if we wish to know the reliability of positive findings to predict epileptogenic zones. In cryptogenic neocortical epilepsy which did not have structural lesions on MR, we tried to find performance of F-18-FDG PET and ictal SPECT to find epileptogenic zones. In 77 patients who had no lesion on MR and who were suspected to have neocortical epilepsy on video monitored EEG, ictal SPECT were done in 44 patients and F-18-FDG PET were done in 70 patients. Invasive study and operation was done in 24 patients. The most hyper perfused area or prominently hypometabolic area was suspected to be epileptogenic on ictal SPECT or F-18-FDG PET, respectively. We could find zones of ictal hyperperfusion in 34/44(78%) patients. Positive predictive values of ictal hyperperfusion were 58%, 60%, and 12.5% in frontal lobes (n=12), lateral temporal lobes (20), and parietal lobes (8). We could find hypometabolic areas in 50/70(76%) patients. Positive predictive values of hypometabolism were 78%, 71%, 33%, and 25% in frontal lobes (9), lateral temporal lobes (28), parietal lobes (3) and occipital lobes (4). Among 24 patients who were operated, 17 patients were followed up more than 7 months (15 ± 5). Thirteen patients improved (10 : Engel class I or II, 2: 90% reduction, 1: 75% reduction but multifocal). Five among 11 PET studies were correct, 3 among 10 SPECT studies, and 6 among 11 PET/SPECT studies (55%) were correct for localization. In conclusion, three fourths of patients gave positive results to localized epileptogenic zones in cryptogenic neocortical epilepsy, and predictive values of ictal hyperperfusion or interictal hypometabolism were highest in frontal or lateral temporal lobes if these lobes were found to be culprit though rapid ictal propagation of cortical hyperperfusion confounded the exact

EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy.

Science.gov (United States)

Massa, R; de Saint-Martin, A; Carcangiu, R; Rudolf, G; Seegmuller, C; Kleitz, C; Metz-Lutz, M N; Hirsch, E; Marescaux, C

2001-09-25

Although so-called "benign" epilepsy with centrotemporal spikes (BECTS) always has an excellent prognosis with regard to seizure remission, behavioral problems and cognitive dysfunctions may sometimes develop in its course. To search for clinical or EEG markers allowing early detection of patients prone to such complications, the authors conducted a prospective study in a cohort of unselected patients with BECTS. In 35 children with BECTS, academic, familial, neurologic, neuropsychological, and wake and sleep EEG evaluations were repeated every 6 to 12 months from the beginning of the seizure disorder up to complete recovery. In 25 of 35 patients (72%), behavioral and intellectual functioning remained unimpaired. In 10 of 35 patients (28%), educational performance and familial maladjustment occurred. These sociofamilial problems were correlated with impulsivity, learning difficulties, attention disorders, and minor (7/35 cases, 20%) or serious (3/35 cases, 8%) auditory-verbal or visual-spatial deficits. Worsening phases started 2 to 36 months after onset and persisted for 9 to 39 months. Occurrence of atypical evolutions was significantly correlated with five qualitative and one quantitative interictal EEG pattern: intermittent slow-wave focus, multiple asynchronous spike-wave foci, long spike-wave clusters, generalized 3-c/s "absence-like" spike-wave discharges, conjunction of interictal paroxysms with negative or positive myoclonia, and abundance of interictal abnormalities during wakefulness and sleep. Clinical deterioration was not linked with seizure characteristics or treatment. Different combinations of at least three of six distinctive interictal EEG patterns and their long-lasting (> or =6-month) persistence seem to be the hallmarks of patients with BECTS at risk for neuropsychological impairments.

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...

Atypical idiopathic inflammatory demyelinating lesions

DEFF Research Database (Denmark)

Wallner-Blazek, Mirja; Rovira, Alex; Fillipp, Massimo

2013-01-01

Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be class......Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can...... be classified according to previously suggested radiologic characteristics and how this classification relates to prognosis. Searching the databases of eight tertiary referral centres we identified 90 adult patients (61 women, 29 men; mean age 34 years) with ≥1 AIIDL. We collected their demographic, clinical...

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.

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.

Emotional stimuli-provoked seizures potentially misdiagnosed as psychogenic non-epileptic attacks: A case of temporal lobe epilepsy with amygdala enlargement

Directory of Open Access Journals (Sweden)

Hidetaka Tamune

Full Text Available The association between emotional stimuli and temporal lobe epilepsy (TLE is largely unknown. Here, we report the case of a depressed, 50-year-old female complaining of episodes of a “spaced out” experience precipitated by emotional stimuli. Psychogenic non-epileptic attacks were suspected. However, video-EEG coupled with emotional stimuli-provoked procedures and MRI findings of amygdala enlargement, led to the diagnosis of left TLE. Accurate diagnosis and explanation improved her subjective depression and seizure frequency. This case demonstrated that emotional stimuli can provoke seizures in TLE and suggested the involvement of the enlarged amygdala and the modulation of emotion-related neural circuits. Keywords: Video-EEG, Psychogenic non-epileptic attacks, Temporal lobe epilepsy, Amygdala enlargement, Reflex seizure, Provoked seizure

Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

Science.gov (United States)

Ottman, Ruth; Hirose, Shinichi; Jain, Satish; Lerche, Holger; Lopes-Cendes, Iscia; Noebels, Jeffrey L.; Serratosa, José; Zara, Federico; Scheffer, Ingrid E.

2010-01-01

SUMMARY In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high0020clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice. PMID:20100225

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

Science.gov (United States)

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

1996-01-01

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

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.

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Science.gov (United States)

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.

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.

Epilepsy Surgery for Skull-Base Temporal Lobe Encephaloceles: Should We Spare the Hippocampus from Resection?

Science.gov (United States)

Bannout, Firas; Harder, Sheri; Lee, Michael; Zouros, Alexander; Raghavan, Ravi; Fogel, Travis; De Los Reyes, Kenneth; Losey, Travis

2018-01-01

The neurosurgical treatment of skull base temporal encephalocele for patients with epilepsy is variable. We describe two adult cases of temporal lobe epilepsy (TLE) with spheno-temporal encephalocele, currently seizure-free for more than two years after anterior temporal lobectomy (ATL) and lesionectomy sparing the hippocampus without long-term intracranial electroencephalogram (EEG) monitoring. Encephaloceles were detected by magnetic resonance imaging (MRI) and confirmed by maxillofacial head computed tomography (CT) scans. Seizures were captured by scalp video-EEG recording. One case underwent intraoperative electrocorticography (ECoG) with pathology demonstrating neuronal heterotopia. We propose that in some patients with skull base temporal encephaloceles, minimal surgical resection of herniated and adjacent temporal cortex (lesionectomy) is sufficient to render seizure freedom. In future cases, where an associated malformation of cortical development is suspected, newer techniques such as minimally invasive EEG monitoring with stereotactic-depth EEG electrodes should be considered to tailor the surrounding margins of the resected epileptogenic zone. PMID:29534521

Epilepsy Surgery for Skull-Base Temporal Lobe Encephaloceles: Should We Spare the Hippocampus from Resection?

Directory of Open Access Journals (Sweden)

Firas Bannout

2018-03-01

Full Text Available The neurosurgical treatment of skull base temporal encephalocele for patients with epilepsy is variable. We describe two adult cases of temporal lobe epilepsy (TLE with spheno-temporal encephalocele, currently seizure-free for more than two years after anterior temporal lobectomy (ATL and lesionectomy sparing the hippocampus without long-term intracranial electroencephalogram (EEG monitoring. Encephaloceles were detected by magnetic resonance imaging (MRI and confirmed by maxillofacial head computed tomography (CT scans. Seizures were captured by scalp video-EEG recording. One case underwent intraoperative electrocorticography (ECoG with pathology demonstrating neuronal heterotopia. We propose that in some patients with skull base temporal encephaloceles, minimal surgical resection of herniated and adjacent temporal cortex (lesionectomy is sufficient to render seizure freedom. In future cases, where an associated malformation of cortical development is suspected, newer techniques such as minimally invasive EEG monitoring with stereotactic-depth EEG electrodes should be considered to tailor the surrounding margins of the resected epileptogenic zone.

[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.

Value of Proton-MR-Spectroscopy in the Diagnosis of Temporal Lobe Epilepsy; Correlation of Metabolite Alterations With Electroencephalography

International Nuclear Information System (INIS)

Aydin, Hasan; Oktay, Nilay Aydin; Kizilgoz, Volkan; Altin, Elif; Tatar, Idil Gunes; Hekimoglu, Baki

2012-01-01

Epilepsy, a well-known mostly idiopathic neurologic disorder, has to be correctly diagnosed and properly treated. Up to now, several diagnostic approaches have been processed to determine the epileptic focus. The aim of this study was to discover whether proton-MR-spectroscopic imaging (MRSI) aids in the diagnosis of temporal lobe epilepsy in conjunction with classical electroencephalography (EEG) findings. Totally, 70 mesial temporal zones consisting of 39 right hippocampi and 31 left hippocampi of 46 patients (25 male, 21 female) were analyzed by proton MRSI. All patients underwent a clinical neurologic examination, scalp EEG recording and prolonged video EEG monitoring. Partial seizures on the right, left or both sides were recorded in all patients. All patients were under medical treatment and none of the patients underwent amygdalohippocampectomy and similar surgical procedures. The normal average lactate (Lac), phosphocreatine, N-acetyl aspartate (NAA), creatine (Cr), choline (Cho), myo-inositol, glutamate and glutamine (Glx) peaks and Nacetyl aspartate/Cr, NAA/ Cho + Cr, Cho/Cr ratios were measured from the healthy opposite hippocampi or from the control subjects. The Lac, glutamate and glutamine (Glx), myo-inositol, phosphocreatine and NAA metabolites plus Cho/Cr ratio showed statistical difference between the normal and the epileptic hippocampi. Cho, Cr metabolites plus NAA/Cr, NAA/ Cho + Cr ratios were almost the same between the groups. The sensitivity of Proton-MR-Spectroscopy for lateralization of the epileptic foci in all patients was 96% and the specificity was 50%. Proton-MRSI can easily be considered as an alternative modality of choice in the diagnosis of temporal lobe epilepsy and in the future; Proton-MR-Spectroscopy may become the most important technique used in epilepsy centers

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.

Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)

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... cause is determined and is referred to as “secondary” intracranial hypertension. What are the risk factors for idiopathic intracranial ... clotting disorders, anemia and malnutrition. Can idiopathic intracranial ... to be “secondary” which affects males and females equally. The second ...

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....

Familial benign nonprogressive myoclonic epilepsies.

Science.gov (United States)

Striano, Pasquale; de Falco, Fabrizio A; Minetti, Carlo; Zara, Federico

2009-05-01

Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in correctly classifying epilepsies with myoclonic seizures. The existence of special familial epileptic syndromes primarily showing myoclonic features has been recently suggested on the basis of a clear pattern of inheritance or on the identification of new chromosomal genetic loci linked to the disease. These forms in development include familial infantile myoclonic epilepsy (FIME), benign adult familial myoclonic epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset myoclonic epilepsy (AME). In the future, the identification of responsible genes and the protein products will contribute to our understanding of the molecular pathways of epileptogenesis and provide neurobiologic criteria for the classification of epilepsies, beyond the different phenotypic expression.

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

Directory of Open Access Journals (Sweden)

Pandya NS

2013-05-01

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

Epilepsy in Dostoevsky.

Science.gov (United States)

Iniesta, Ivan

2013-01-01

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

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.

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

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

Idiopathic ventricular tachycardia and fibrillation.

Science.gov (United States)

Belhassen, B; Viskin, S

1993-06-01

Important data have recently been added to our understanding of sustained ventricular tachyarrhythmias occurring in the absence of demonstrable heart disease. Idiopathic ventricular tachycardia (VT) is usually of monomorphic configuration and can be classified according to its site of origin as either right monomorphic (70% of all idiopathic VTs) or left monomorphic VT. Several physiopathological types of monomorphic VT can be presently individualized, according to their mode of presentation, their relationship to adrenergic stress, or their response to various drugs. The long-term prognosis is usually good. Idiopathic polymorphic VT is a much rarer type of arrhythmia with a less favorable prognosis. Idiopathic ventricular fibrillation may represent an underestimated cause of sudden cardiac death in ostensibly healty patients. A high incidence of inducibility of sustained polymorphic VT with programmed ventricular stimulation has been found by our group, but not by others. Long-term prognosis on Class IA antiarrhythmic medications that are highly effective at electrophysiologic study appears excellent.

Auditory event-related potentials in children with benign epilepsy with centro-temporal spikes.

Science.gov (United States)

Tomé, David; Sampaio, Mafalda; Mendes-Ribeiro, José; Barbosa, Fernando; Marques-Teixeira, João

2014-12-01

Benign focal epilepsy in childhood with centro-temporal spikes (BECTS) is one of the most common forms of idiopathic epilepsy, with onset from age 3 to 14 years. Although the prognosis for children with BECTS is excellent, some studies have revealed neuropsychological deficits in many domains, including language. Auditory event-related potentials (AERPs) reflect activation of different neuronal populations and are suggested to contribute to the evaluation of auditory discrimination (N1), attention allocation and phonological categorization (N2), and echoic memory (mismatch negativity--MMN). The scarce existing literature about this theme motivated the present study, which aims to investigate and document the existing AERP changes in a group of children with BECTS. AERPs were recorded, during the day, to pure and vocal tones and in a conventional auditory oddball paradigm in five children with BECTS (aged 8-12; mean=10 years; male=5) and in six gender and age-matched controls. Results revealed high amplitude of AERPs for the group of children with BECTS with a slight latency delay more pronounced in fronto-central electrodes. Children with BECTS may have abnormal central auditory processing, reflected by electrophysiological measures such as AERPs. In advance, AERPs seem a good tool to detect and reliably reveal cortical excitability in children with typical BECTS. Copyright © 2014 Elsevier B.V. All rights reserved.

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

Directory of Open Access Journals (Sweden)

Russell P. Saneto DO, PhD

2017-10-01

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

Idiopathic Perforation of the Sigmoid Colon in a 2.5 Years Old Girl: A Case Report

Directory of Open Access Journals (Sweden)

Sanaz Mehrabani

2017-09-01

Full Text Available Idiopathic colon perforation is rare in children. It is more common at the extremes of age. Splenic flextures, ileocecal and lower sigmoid regions are the most common sites of perforation. Delay in proper management of this condition is associated with high mortality and morbidity rate. We report on the case of a 2.5 years old girl who presented with fever, diarrhea, nausea and vomiting and progressive abdominal distention.Finally, she underwent an exploratory laparotomy for suspected peritonitis because of the patient's worsening condition. An area of perforation was found in the sigmoid colon that segmental resection and an end double barrel colostomy was done.

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.

1H MR spectroscopic imaging in patients with MRI-negative extratemporal epilepsy: correlation with ictal onset zone and histopathology

International Nuclear Information System (INIS)

Krsek, Pavel; Komarek, Vladimir; Hajek, Milan; Dezortova, Monika; Jiru, Filip; Skoch, Antonin; Marusic, Petr; Zamecnik, Josef; Kyncl, Martin; Tichy, Michal

2007-01-01

Proton magnetic resonance spectroscopy ( 1 H MRS) is beneficial in the lateralization of the epileptogenic zone in temporal lobe epilepsy; however, its role in extratemporal and, especially, MRI-negative epilepsy has not been established. This study seeks to verify how 1 H MRS could help in localizing the epileptogenic zone in patients with MRI-negative extratemporal epilepsy. Seven patients (8-23 years) with MRI-negative refractory focal epilepsy were studied using 1 H MRS on a 1.5T MR system. Chemical shift imaging sequence in the transversal plane was directed towards the suspected epileptogenic zone localized by seizure semiology, scalp video/EEG, ictal SPECT and 18 FDG-PET. Spectra were evaluated using the program CULICH, and the coefficient of asymmetry was used for quantitative lateralization. MRS detected lateralization in all patients and was able to localize pathology in five. The most frequent findings were decreased ratios of N-acetylaspartate to choline compounds characterized by increasing choline concentration. The localization of the 1 H MRS abnormality correlated well with ictal SPECT and subdural mapping. In all cases, histopathological analysis revealed MRI-undetected focal cortical dysplasias. 1 H MRS could be more sensitive for the detection of discrete malformations of cortical development than conventional MRI. It is valuable in the presurgical evaluation of patients without MRI-apparent lesions. (orig.)

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)

Network Analysis of Foramen Ovale Electrode Recordings in Drug-resistant Temporal Lobe Epilepsy Patients

Science.gov (United States)

Sanz-García, Ancor; Vega-Zelaya, Lorena; Pastor, Jesús; Torres, Cristina V.; Sola, Rafael G.; Ortega, Guillermo J.

2016-01-01

Approximately 30% of epilepsy patients are refractory to antiepileptic drugs. In these cases, surgery is the only alternative to eliminate/control seizures. However, a significant minority of patients continues to exhibit post-operative seizures, even in those cases in which the suspected source of seizures has been correctly localized and resected. The protocol presented here combines a clinical procedure routinely employed during the pre-operative evaluation of temporal lobe epilepsy (TLE) patients with a novel technique for network analysis. The method allows for the evaluation of the temporal evolution of mesial network parameters. The bilateral insertion of foramen ovale electrodes (FOE) into the ambient cistern simultaneously records electrocortical activity at several mesial areas in the temporal lobe. Furthermore, network methodology applied to the recorded time series tracks the temporal evolution of the mesial networks both interictally and during the seizures. In this way, the presented protocol offers a unique way to visualize and quantify measures that considers the relationships between several mesial areas instead of a single area. PMID:28060326

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.

[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.

Disease: H00809 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available al lobe epilepsy (ADTLE); Autosomal dominant partial epilepsy with auditory features (ADPEAF) Autosomal domi...nant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF...y adulthood of lateral temporal seizures with predominant auditory symptoms originating from the lateral tem... about 2% of sporadic cases with idiopathic partial epilepsy with auditory features, who are clinically simi

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.

Juvenile Myoclonic Epilepsy In India : Some Interesting Observations

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Jha Sanjeev

2004-01-01

Full Text Available Material and Method: Study was conducted in 132 cases of JME. They were selected after screening 1210 patients presenting with syndrome of generalized seizures in age group 10-36 years. Diagnosis was established clinically by standard criterias and confirmed by EEG. Duration of study was 9 years. Results : We observed JME is under diagnosed since majority (27% were referred as uncontrolled seizures. Other patients were referred as Lenox Gestaut syndrome (19%, progressive myoclonic epilepsy (7.5% or subacute sclerosing pan-encephalitis (3.7%. There were 25 (15.5% fresh cases of JME who reported directly. We observed few atypical features in our study. They were in the form of (a wide range in age of onset (b gross delay in diagnosis (90%-lack of clinical suspicion and non-use of activation procedures in EEG appear to be important reasons for this delay (c negative family history (90% (d mild cognitive impairment (14% and (e good clinical response to other drugs viz; clobazam, phenytoin (PHT and carbamazepine (CBZ besides sodium valproate (VPA or clonazepam (CLO. However phenobarbitone (PB was ineffective. Sequential EEG became normal in 63% patients controlled on VPA while it was persistently abnormal in all patients who were well controlled on other drugs. Conclusion : Clinical spectrum of JME appears to be different in India. We suggest that it should be strongly suspected in juvenile patients of generalized epilepsy not responding to treatment.

Confronting the stigma of epilepsy

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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.

Genetics of Severe Early Onset Epilepsies

Science.gov (United States)

2017-08-24

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

Epilepsy

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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.

Science.gov (United States)

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

2016-05-01

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

Epilepsy.

Science.gov (United States)

Rotenberg, Alexander

2013-01-01

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

Prevalence of epilepsy and seizure disorders as causes of apparent life- threatening event (ALTE in children admitted to a tertiary hospital Prevalência de epilepsia e crises epilépticas como causa de eventos com aparente risco de vida (ALTE em crianças internadas em hospital terciário

Directory of Open Access Journals (Sweden)

Alessandra Marques dos Anjos

2009-09-01

Full Text Available OBJECTIVE: To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE in children admitted at the emergency and followed in a tertiary hospital. METHOD: Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. RESULTS: During the study, 30 (4.2% children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73% and term infants (70%. Neonatal neurological disorders and neuropsychomotor development delay were found respectively in 13.4% and 10% of the cases. Etiological investigation revealed that 50% of the cases were idiopathic, and 13.4% were caused by epilepsy or seizure disorders. Although all patients had recurrent ALTE events, epilepsy had not been previously suspected. CONCLUSION: Epilepsy should be included in the differential diagnosis of ALTE, particularly when events are recurrent.OBJETIVO: Determinar a prevalência e características clínicas de crises epilépticas e epilepsia como causa de eventos com aparente risco de vida (ALTE em crianças atendidas na emergência e acompanhadas em hospital terciário. MÉTODO: Estudo transversal com coleta prospectiva de dados através de protocolo específico para identificação da etiologia de ALTE. RESULTADOS: Foram diagnosticadas 30 crianças com ALTE perfazendo 4.2% das crianças internadas no período do estudo. Houve predominância no sexo masculino (73% e em neonatos a termo (70%. História prévia de doenças neurológicas no período neonatal e atraso no desenvolvimento neuropsicomotor ocorreram respectivamente em 13.4% e 10% dos casos. A investigação etiológica identificou 13.4% dos casos relacionados a epilepsia ou crise convulsivas e 50% idiopáticos. Apesar destes pacientes terem apresentados episódios recorrentes em nenhum caso havia a suspeita prévia de epilepsia. CONCLUSÃO: Ao investigar

Understanding Death in Children With Epilepsy.

Science.gov (United States)

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

2017-05-01

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

{sup 1}H MR spectroscopic imaging in patients with MRI-negative extratemporal epilepsy: correlation with ictal onset zone and histopathology

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Krsek, Pavel; Komarek, Vladimir [Charles University, Department of Pediatric Neurology, Second Medical School, Motol Hospital, Prague (Czech Republic); Hajek, Milan [Institute for Clinical and Experimental Medicine, MR Unit, Department of Diagnostic and Interventional Radiology, Prague (Czech Republic); Institute for Clinical and Experimental Medicine, MR Spectroscopy, Prague 4 (Czech Republic); Dezortova, Monika; Jiru, Filip; Skoch, Antonin [Institute for Clinical and Experimental Medicine, MR Unit, Department of Diagnostic and Interventional Radiology, Prague (Czech Republic); Marusic, Petr [Charles University, Department of Neurology, Second Medical School, Motol Hospital, Prague (Czech Republic); Zamecnik, Josef [Charles University, Department of Pathology and Molecular Medicine, Second Medical School, Motol Hospital, Prague (Czech Republic); Kyncl, Martin [Charles University, Department of Radiology, Second Medical School, Motol Hospital, Prague (Czech Republic); Tichy, Michal [Charles University, Department of Pediatric Neurosurgery, Second Medical School, Motol Hospital, Prague (Czech Republic)

2007-08-15

Proton magnetic resonance spectroscopy ({sup 1}H MRS) is beneficial in the lateralization of the epileptogenic zone in temporal lobe epilepsy; however, its role in extratemporal and, especially, MRI-negative epilepsy has not been established. This study seeks to verify how {sup 1}H MRS could help in localizing the epileptogenic zone in patients with MRI-negative extratemporal epilepsy. Seven patients (8-23 years) with MRI-negative refractory focal epilepsy were studied using {sup 1}H MRS on a 1.5T MR system. Chemical shift imaging sequence in the transversal plane was directed towards the suspected epileptogenic zone localized by seizure semiology, scalp video/EEG, ictal SPECT and {sup 18}FDG-PET. Spectra were evaluated using the program CULICH, and the coefficient of asymmetry was used for quantitative lateralization. MRS detected lateralization in all patients and was able to localize pathology in five. The most frequent findings were decreased ratios of N-acetylaspartate to choline compounds characterized by increasing choline concentration. The localization of the {sup 1}H MRS abnormality correlated well with ictal SPECT and subdural mapping. In all cases, histopathological analysis revealed MRI-undetected focal cortical dysplasias. {sup 1}H MRS could be more sensitive for the detection of discrete malformations of cortical development than conventional MRI. It is valuable in the presurgical evaluation of patients without MRI-apparent lesions. (orig.)

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

Science.gov (United States)

Loring, David W.

2010-01-01

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

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

Science.gov (United States)

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

2017-11-01

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

Why epilepsy challenges social life.

Science.gov (United States)

Steiger, Bettina K; Jokeit, Hennric

2017-01-01

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

Genes e epilepsia I: epilepsia e alterações genéticas Genes and epilepsy I: epilepsy and genetic alterations

Directory of Open Access Journals (Sweden)

Daniel L. G. Gitaí

2008-06-01

hypersynchronous electrical activity, preferentially in cortical areas, caused by panoply of structural and neurochemical dysfunctions. Recent advances in the field have focused on the molecular mechanisms involved in the epileptogenic process. OBJECTIVES: In the present review, we describe the main genetic alterations associated to the process of epileptogenesis and discuss the new findings that are shedding light on the molecular substrates of monogenic idiopathic epilepsies (MIE and on genetically complex epilepsies (GCE. RESULTS AND CONCLUSION: Linkage and association studies have shown that mutations in ion channel genes are the main causes of MIE and of predisposition for GCE. Moreover, mutations in genes involved in neuronal migration, glycogen metabolism and respiratory chain are associated to other syndromes involving seizures. Therefore, different gene classes contribute to the epileptic trait. The identification of epilepsy-related gene families can help us understand the molecular mechanisms of neuronal hyperexcitability and recognize markers of early diagnosis as well as new treatments for these epilepsies.

Genetics Home Reference: idiopathic pulmonary fibrosis

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... these health problems has idiopathic pulmonary fibrosis . Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms. In people with idiopathic pulmonary fibrosis , scarring of the lungs increases over time until the lungs can no longer ...

Association of the GRM4 gene variants with juvenile myoclonic ...

Indian Academy of Sciences (India)

out the genetic association study in an Indian population for ... Keywords. genetic risk factor; idiopathic generalized epilepsy; juvenile myoclonic epilepsy; metabotropic glutamate receptor; polygenic ..... JME cases, in a German population.

Musical and poetic creativity and epilepsy.

Science.gov (United States)

Hesdorffer, Dale C; Trimble, Michael

2016-04-01

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

Temporal plus epilepsy: Anatomo-electroclinical subtypes

Science.gov (United States)

Andrade-Machado, René; Benjumea-Cuartas, Vanessa

2016-01-01

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

Genetics Home Reference: pyridoxine-dependent epilepsy

Science.gov (United States)

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

Epilepsy Surgery for Individuals with TSC

Science.gov (United States)

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

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.

Epilepsy

Energy Technology Data Exchange (ETDEWEB)

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

1993-12-31

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

[Modern aspects of epilepsy treatment].

Science.gov (United States)

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

2003-01-01

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

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.

Aetiology of idiopathic granulomatous mastitis.

Science.gov (United States)

Altintoprak, Fatih; Kivilcim, Taner; Ozkan, Orhan Veli

2014-12-16

Idiopathic granulomatous mastitis is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The most common clinical presentation is an unilateral, discrete breast mass, nipple retraction and even a sinus formation often associated with an inflammation of the overlying skin. The etiology of idiopathic granulomatous mastitis is still obscure. Its treatment remains controversial. The cause may be the autoimmune process, infection, a chemical reaction associated with oral contraceptive pills, or even lactation. Various factors, including hormonal imbalance, autoimmunity, unknown microbiological agents, smoking and α 1-antitrypsin deficiency have been suggested to play a role in disease aetiology. In this review, causing factors in the aetiology of idiopathic granulomatous mastitis are reviewed in detail.

Epilepsy, language, and social skills.

Science.gov (United States)

Caplan, Rochelle

2017-10-04

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

Cognition in epilepsy: current clinical issues of interest.

Science.gov (United States)

Witt, Juri-Alexander; Helmstaedter, Christoph

2017-04-01

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

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

Energy Technology Data Exchange (ETDEWEB)

Frydman, M.; Straussberg, R.; Shomrat, R.; Legum, C. [Tel Aviv Univ. (Israel)] [and others

1995-09-11

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. {open_quotes}Idiopathic{close_quotes} hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia. 13 refs., 3 figs., 1 tab.

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

Science.gov (United States)

van de Pol, Laura A; Wolf, Nicole I; van Weissenbruch, Mirjam M; Stam, Cornelie J; Weiss, Janneke M; Waisfisz, Quinten; Kevelam, Sietske H; Bugiani, Mariana; van de Kamp, Jiddeke M; van der Knaap, Marjo S

2015-12-01

A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings, born to consanguineous parents, with a lethal severe epileptic encephalopathy with early-infantile onset, including their magnetic resonance imaging, electroencephalography and, in one case, neuropathological findings. Using WES a homozygous frameshift mutation in the BRAT1 gene, c.638dup p.(Val214Glyfs*189), was identified. We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. Georg Thieme Verlag KG Stuttgart · New York.

[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.

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.

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)

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....

Sleep and Epilepsy: Strange Bedfellows No More.

Science.gov (United States)

St Louis, Erik K

2011-09-01

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

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

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.

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

Directory of Open Access Journals (Sweden)

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

Recurrence risk of ictal asystole in epilepsy.

Science.gov (United States)

Hampel, Kevin G; Thijs, Roland D; Elger, Christian E; Surges, Rainer

2017-08-22

To determine the recurrence risk of ictal asystole (IA) and its determining factors in people with epilepsy. We performed a systematic review of published cases with IA in 3 databases and additionally searched our local database for patients with multiple seizures simultaneously recorded with ECG and EEG and at least one IA. IA recurrence risk was estimated by including all seizures without knowledge of the chronological order. Various clinical features were assessed by an individual patient data meta-analysis. A random mixed effect logistic regression model was applied to estimate the average recurrence risk of IA. Plausibility of the calculated IA recurrence risk was checked by analyzing the local dataset with available information in chronological order. Eighty patients with 182 IA in 537 seizures were included. Recurrence risk of IA amounted to 40% (95% confidence interval [CI] 32%-50%). None of the clinical factors (age, sex, type and duration of epilepsy, hemispheric lateralization, duration of IA per patient) appeared to have a significant effect on the short-term recurrence risk of IA. When considering the local dataset only, IA recurrence risk was estimated to 30% (95% CI 14%-53%). Information whether IA coincided with symptoms (i.e., syncope) or not was given in 60 patients: 100 out of 142 IAs were symptomatic. Our data suggest that in case of clinically suspected IA, the recording of 1 or 2 seizures is not sufficient to rule out IA. Furthermore, the high short-term recurrence risk favors aggressive treatment, including pacemaker implantation if seizure freedom cannot be achieved. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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.

Idiopathic pulmonary fibrosis: treatment update.

LENUS (Irish Health Repository)

O'Connell, Oisin J

2011-11-01

Idiopathic pulmonary fibrosis (IPF) is the most common of the idiopathic interstitial pneumonias. Despite multiple recent clinical trials, there is no strong evidence supporting a survival advantage for any agent in the management of patients with IPF. The limited effectiveness of current treatment regimes has led to a search for novel therapies including antifibrotic strategies. This article reviews the evidence supporting the treatments currently used in the management of IPF.

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...

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.

Brain mapping of epileptic activity in a case of idiopathic occipital lobe epilepsy (Panayiotopoulos syndrome).

Science.gov (United States)

Leal, Alberto J R; Nunes, Sofia; Martins, António; Secca, Mário Forjaz; Jordão, Constança

2007-06-01

The Panayiotopoulos type of occipital lobe epilepsy has generated great interest, but the particular brain areas involved in the peculiar seizure manifestations have not been established. We studied a patient with the syndrome, using high-resolution EEG and simultaneous EEG and functional magnetic resonance imaging (fMRI). Resolution of the scalp EEG was improved using a realistic spline Laplacian algorithm, and produced a complex distribution of current sinks and sources over the occipital lobe. The spike-related blood oxygen level dependent (BOLD) effect was multifocal, with clusters in lateral and inferior occipital lobe and lateral and anterior temporal lobe. We also performed regional dipole seeding in BOLD clusters to determine their relative contribution to generation of scalp spikes. The integrated model of the neurophysiologic and vascular data strongly suggests that the epileptic activity originates in the lateral occipital area, spreading to the occipital pole and lateral temporal lobe.

Radiofrequency Catheter Ablation of Coexistent Idiopathic Left Ventricular Tachycardia and Atrioventricular Nodal Reentrant Tachycardia

Directory of Open Access Journals (Sweden)

Ken-Pen Weng

2005-10-01

Full Text Available A healthy 15-year-old male patient presented with a 6-month history of recurrent attacks of palpitations. On multiple emergency room visits, a sustained wide QRS complex tachycardia with a right bundle branch block and northwest axis deviation was documented. The tachycardia was not terminated by intravenous adenosine, but was suppressed with intravenous verapamil. There was no evidence of structural heart disease, myocarditis, long QT syndrome, or electrolyte imbalance after a series of standard examinations. Idiopathic left ventricular tachycardia (ILVT was suspected. Electrophysiologic studies revealed 2 inducible tachycardias, which were shown to represent atrioventricular nodal reentrant tachycardia (AVNRT and ILVT. Transformation from AVNRT to ILVT occurred spontaneously following atrial pacing. Successful ablation of ILVT and the slow atrioventricular nodal pathway resulted in cure of the double tachycardia.

Choking at Night: A Case of Opercular Nocturnal Frontal Lobe Epilepsy

Directory of Open Access Journals (Sweden)

Geetanjali Rathore

2013-01-01

Full Text Available Frontal lobe seizures have a tendency to occur in sleep and in most cases occur exclusively insleep; these individuals are said to have nocturnal frontal lobe (NFLE. NFLE can be difficult to distinguish clinically from various other sleep disorders, particularly parasomnias, which also present with paroxysmal motor activity in sleep. Interictal and ictal EEG findings are frequently unremarkable or nonspecific in both parasomnias and NFLE making the diagnosis even more difficult. Nocturnal epilepsy should be suspected in patients with paroxysmal events at night characterized by high frequency, repetition, extrapyramidal features, and marked stereotypy of attacks. Here we present a 13-year-old female who was extensively worked up for choking episodes at night. On repeat video EEG she was found to have frontal opercular seizures. Once on Carbamazepine, her seizures completely resolved.

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.

Retrospective panoramic radiographic analysis for idiopathic osteosclerosis in Indians

Directory of Open Access Journals (Sweden)

Srikanth H Srivathsa

2016-01-01

Full Text Available Introduction: Idiopathic osteosclerosis is an area of increased radiodensity observed on panoramic radiographs. The prevalence of this entity is not known, especially in Indians. Aims and Objectives: To determine the prevalence and epidemiological characteristics of idiopathic osteosclerosis. Materials and Methods: Six hundred and forty panoramic radiographs were retrospectively analyzed for the presence of idiopathic osteosclerosis by a single trained oral radiologist. Statistical Analysis: The data obtained were analyzed using Microsoft Excel (Version 2007 for Windows. Results: Idiopathic osteosclerosis was identified in 32 individuals with a prevalence of 5%. There were 21 female (65.7% and 11 male (34.3% participants. There were 31 single, unilateral (96.85% osteosclerotic lesions and 1 (3.15% bilateral lesion. Right side localization was noted in 19 participants (57.57% and left side localization in 14 participants (42.42%. Conclusion: This study illustrates the prevalence of idiopathic osteosclerosis in Indians. Further, it depicts the characteristics of idiopathic osteosclerotic lesions.

[Idiopathic facial paralysis in children].

Science.gov (United States)

Achour, I; Chakroun, A; Ayedi, S; Ben Rhaiem, Z; Mnejja, M; Charfeddine, I; Hammami, B; Ghorbel, A

2015-05-01

Idiopathic facial palsy is the most common cause of facial nerve palsy in children. Controversy exists regarding treatment options. The objectives of this study were to review the epidemiological and clinical characteristics as well as the outcome of idiopathic facial palsy in children to suggest appropriate treatment. A retrospective study was conducted on children with a diagnosis of idiopathic facial palsy from 2007 to 2012. A total of 37 cases (13 males, 24 females) with a mean age of 13.9 years were included in this analysis. The mean duration between onset of Bell's palsy and consultation was 3 days. Of these patients, 78.3% had moderately severe (grade IV) or severe paralysis (grade V on the House and Brackmann grading). Twenty-seven patients were treated in an outpatient context, three patients were hospitalized, and seven patients were treated as outpatients and subsequently hospitalized. All patients received corticosteroids. Eight of them also received antiviral treatment. The complete recovery rate was 94.6% (35/37). The duration of complete recovery was 7.4 weeks. Children with idiopathic facial palsy have a very good prognosis. The complete recovery rate exceeds 90%. However, controversy exists regarding treatment options. High-quality studies have been conducted on adult populations. Medical treatment based on corticosteroids alone or combined with antiviral treatment is certainly effective in improving facial function outcomes in adults. In children, the recommendation for prescription of steroids and antiviral drugs based on adult treatment appears to be justified. Randomized controlled trials in the pediatric population are recommended to define a strategy for management of idiopathic facial paralysis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

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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

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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.

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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.

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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

Total fertilization failure and idiopathic subfertility

Directory of Open Access Journals (Sweden)

Goverde Angelique J

2009-01-01

Full Text Available Abstract Background To gain more insight in whether failure of intrauterine insemination (IUI treatment in patients with idiopathic subfertility could be related to diminished fertilization, the aim of this study is to compare the fertilization of an initial IVF procedure after six cycles of IUI and the fertilization of an initial IVF procedure without preceding IUI cycles in couples with idiopathic subfertility. Methods We performed a complimentary analysis of a randomized controlled trial, in which the number of total fertilization failure (TFF in the first IVF procedure after unsuccessful IUI was compared to those of IVF without preceding IUI in patients with idiopathic subfertility. These patients participated in a previous study that assessed the cost effectiveness of IUI versus IVF in idiopathic subfertility and were randomized to either IUI or IVF treatment. Results 45 patients underwent IVF after 6 cycles of unsuccessful IUI and 58 patients underwent IVF immediately without preceding IUI. In 7 patients the IVF treatment was cancelled before ovum pick. In the IVF after unsuccessful IUI group TFF was seen in 2 of the 39 patients (5% versus 7 of the 56 patients (13% in the immediate IVF group. After correction for confounding factors the TFF rate was not significantly different between the two groups (p = 0.08, OR 7.4; 95% CI: 0.5–14.9. Conclusion Our data showed that TFF and the fertilization rate in the first IVF treatment were not significantly different between couples with idiopathic subfertility undergoing IVF after failure of IUI versus those couples undergoing IVF immediately without prior IUI treatment. Apparently, impaired fertilization does not play a significant role in the success rate of IUI in patients with idiopathic subfertility.

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

Drug therapy for chronic idiopathic axonal polyneuropathy

NARCIS (Netherlands)

Vrancken, A. F. J. E.; van Schaik, I. N.; Hughes, R. A. C.; Notermans, N. C.

2004-01-01

BACKGROUND: Chronic idiopathic axonal polyneuropathy is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, it reduces quality of life. OBJECTIVES: To assess whether drug therapy for chronic idiopathic

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

Astrogliosis and impaired aquaporin-4 and dystrophin systems in idiopathic normal pressure hydrocephalus.

Science.gov (United States)

Eide, P K; Hansson, H-A

2017-06-19

Idiopathic normal pressure hydrocephalus (iNPH) is one subtype of dementia that may improve following drainage of cerebrospinal fluid (CSF). This prospective observational study explored whether expression of the water channel aquaporin-4 (AQP4) and the anchoring molecule dystrophin 71 (Dp71) are altered at astrocytic perivascular endfeet and in adjacent neuropil of iNPH patient. Observations were related to measurements of pulsatile and static intracranial pressure (ICP). The study included iNPH patients undergoing overnight monitoring of the pulsatile/static ICP in whom a biopsy was taken from the frontal cerebral cortex during placement of the ICP sensor. Reference (Ref) biopsies were sampled from 13 patients who underwent brain surgery for epilepsy, tumours or cerebral aneurysms. The brain tissue specimens were examined by light microscopy, immunohistochemistry, densitometry and morphometry. iNPH patients responding to surgery (n = 44) had elevated pulsatile ICP, indicative of impaired intracranial compliance. As compared to the Ref patients, the cortical biopsies of iNPH patients revealed prominent astrogliosis and reduced expression of AQP4 and Dp71 immunoreactivities in the astrocytic perivascular endfeet and in parts of the adjacent neuropil. There was a significant correlation between degree of astrogliosis and reduction of AQP4 and Dp71 at astrocytic perivascular endfeet. Idiopathic normal pressure hydrocephalus patients responding to CSF diversion present with abnormal pulsatile ICP, indicative of impaired intracranial compliance. A main histopathological finding was astrogliosis and reduction of AQP4 and of Dp71 in astrocytic perivascular endfeet. We propose that the altered AQP4 and Dp71 complex contributes to the subischaemia prevalent in the brain tissue of iNPH. © 2017 British Neuropathological Society.

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...

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.

Central Serotonin-2A (5-HT2A Receptor Dysfunction in Depression and Epilepsy: The Missing Link?

Directory of Open Access Journals (Sweden)

Bruno Pierre Guiard

2015-03-01

Full Text Available 5-Hydroxytryptamine 2A receptors (5-HT2A-Rs are G-protein coupled receptors. In agreement with their location in the brain, they have been implicated not only in various central physiological functions including memory, sleep, nociception, eating and reward behaviors, but also in many neuropsychiatric disorders. Interestingly, a bidirectional link between depression and epilepsy is suspected since patients with depression and especially suicide attempters have an increased seizure risk, while a significant percentage of epileptic patients suffer from depression. Such epidemiological data led us to hypothesize that both pathologies may share common anatomical and neurobiological alteration of the 5-HT2A signaling. After a brief presentation of the pharmacological properties of the 5-HT2A-Rs, this review illustrates how these receptors may directly or indirectly control neuronal excitability in most networks involved in depression and epilepsy through interactions with the monoaminergic, GABAergic and glutamatergic neurotransmissions. It also synthetizes the preclinical and clinical evidence demonstrating the role of these receptors in antidepressant and antiepileptic responses.

Aberrant functional connectivity between motor and language networks in rolandic epilepsy.

Science.gov (United States)

Besseling, René M H; Overvliet, Geke M; Jansen, Jacobus F A; van der Kruijs, Sylvie J M; Vles, Johannes S H; Ebus, Saskia C M; Hofman, Paul A M; de Louw, Anton J A; Aldenkamp, Albert P; Backes, Walter H

2013-12-01

Rolandic epilepsy (RE) is an idiopathic focal childhood epilepsy with a well-established neuropsychological profile of language impairment. The aim of this study is to provide a functional correlate that links rolandic (sensorimotor) pathology to language problems using functional MRI. Twenty-three children with RE (8-14 years old) and 21 matched controls underwent extensive language assessment (Clinical Evaluation of Language Fundamentals). fMRI was performed at rest and using word generation, reading, and finger tapping paradigms. Since no activation group differences were found, regions of interest (ROIs) were defined at pooled (patients and controls combined) activation maxima and in contralateral homotopic cortex, and used to assess language lateralization as well as for a resting-state connectivity analysis. Furthermore, the association between connection strength and language performance was investigated. Reduced language performance was found in the children with RE. Bilateral activation was found for both language tasks with some predominance of the left hemisphere in both groups. Compared to controls, patient connectivity was decreased between the left sensorimotor area and right inferior frontal gyrus (planguage scores in the patient group (r=0.49, p=0.02), but not in the controls. Language laterality analysis revealed bilateral language representation in the age range under study (8-14 years). As a consequence, the connection of reduced functional connectivity we found represents an impaired interplay between motor and language networks, and aberrant functional connectivity associated with poorer language performance. These findings provide a first neuronal correlate in terms of aberrant resting-state functional connectivity for language impairment in RE. Copyright © 2013 Elsevier B.V. All rights reserved.

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.

Benign occipital lobe seizures: Natural progression and atypical evolution

Directory of Open Access Journals (Sweden)

Prithika Chary

2013-01-01

Full Text Available Benign occipital seizure syndromes are benign childhood epilepsy syndromes and are mainly of two types, Panayiotopoulos syndrome, an autonomic epilepsy and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G including the idiopathic photosensitive occipital lobe epilepsy. Although both these types are categorized as occipital seizures, they are distinct in presentation and management. They can also be tricky to diagnose as visual symptoms may not always be the presenting feature and it is also not very easy to elicit visual hallucinations during history taking. These seizures have a good response to treatment; however, there could be atypical evolution and refractoriness to treatment especially with ICOE-G. We describe three children who presented with visual and non-visual symptoms and the electroencephalography (EEG in all the three cases showed occipital paroxysms. We have emphasized the clues in the clinical history and EEG leading to the diagnosis of these distinct epilepsy syndromes. We have also discussed the natural course of these epilepsy syndromes with some atypical evolution, which clinicians need to be aware of during treatment of these children.

Benign occipital lobe seizures: Natural progression and atypical evolution.

Science.gov (United States)

Chary, Prithika; Rajendran, Bhuvaneshwari

2013-10-01

Benign occipital seizure syndromes are benign childhood epilepsy syndromes and are mainly of two types, Panayiotopoulos syndrome, an autonomic epilepsy and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) including the idiopathic photosensitive occipital lobe epilepsy. Although both these types are categorized as occipital seizures, they are distinct in presentation and management. They can also be tricky to diagnose as visual symptoms may not always be the presenting feature and it is also not very easy to elicit visual hallucinations during history taking. These seizures have a good response to treatment; however, there could be atypical evolution and refractoriness to treatment especially with ICOE-G. We describe three children who presented with visual and non-visual symptoms and the electroencephalography (EEG) in all the three cases showed occipital paroxysms. We have emphasized the clues in the clinical history and EEG leading to the diagnosis of these distinct epilepsy syndromes. We have also discussed the natural course of these epilepsy syndromes with some atypical evolution, which clinicians need to be aware of during treatment of these children.

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.

Idiopathic renal hematuria in a dog; the usefulness of a method of partial occlusion of the renal artery.

Science.gov (United States)

Mishina, M; Watanabe, T; Yugeta, N; Maeda, H; Fujii, K; Wakao, Y; Takahashi, M; Yamamura, H

1997-04-01

Exploratory laparotomy was performed on a dog suspected of having idiopathic renal hematuria. Two catheters were inserted into the bilateral ureters, and hematuria from the left kidney was confirmed. The blood flow was occluded in the ventral and dorsal rami of the left renal artery in order to localize the site of hemorrhage. As hematuria disappeared when the dorsal ramus was occluded, the site of renal hematuria was localized to the area dominated by the dorsal ramus of the renal artery. As a result of ligating the dorsal ramus of the left renal artery in this dog, renal hematuria subsided, and the dog has shown a favorable course, to date, one year after surgery.

Ear-EEG detects ictal and interictal abnormalities in focal and generalized epilepsy - A comparison with scalp EEG monitoring.

Science.gov (United States)

Zibrandtsen, I C; Kidmose, P; Christensen, C B; Kjaer, T W

2017-12-01

Ear-EEG is recording of electroencephalography from a small device in the ear. This is the first study to compare ictal and interictal abnormalities recorded with ear-EEG and simultaneous scalp-EEG in an epilepsy monitoring unit. We recorded and compared simultaneous ear-EEG and scalp-EEG from 15 patients with suspected temporal lobe epilepsy. EEGs were compared visually by independent neurophysiologists. Correlation and time-frequency analysis was used to quantify the similarity between ear and scalp electrodes. Spike-averages were used to assess similarity of interictal spikes. There were no differences in sensitivity or specificity for seizure detection. Mean correlation coefficient between ear-EEG and nearest scalp electrode was above 0.6 with a statistically significant decreasing trend with increasing distance away from the ear. Ictal morphology and frequency dynamics can be observed from visual inspection and time-frequency analysis. Spike averages derived from ear-EEG electrodes yield a recognizable spike appearance. Our results suggest that ear-EEG can reliably detect electroencephalographic patterns associated with focal temporal lobe seizures. Interictal spike morphology from sufficiently large temporal spike sources can be sampled using ear-EEG. Ear-EEG is likely to become an important tool in clinical epilepsy monitoring and diagnosis. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. 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

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.

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

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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

Adolescent Idiopathic Scoliosis

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... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Common Questions & Glossary Resources ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Juvenile Idiopathic Scoliosis Diagnosed ...

Quantitative electromyographic characteristics of idiopathic unilateral vocal fold paralysis.

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Chang, Wei-Han; Fang, Tuan-Jen; Li, Hsueh-Yu; Jaw, Fu-Shan; Wong, Alice M K; Pei, Yu-Cheng

2016-11-01

Unilateral vocal fold paralysis with no preceding causes is diagnosed as idiopathic unilateral vocal fold paralysis. However, comprehensive guidelines for evaluating the defining characteristics of idiopathic unilateral vocal fold paralysis are still lacking. In the present study, we hypothesized that idiopathic unilateral vocal fold paralysis may have different clinical and neurologic characteristics from unilateral vocal fold paralysis caused by surgical trauma. Retrospective, case series study. Patients with unilateral vocal fold paralysis were evaluated using quantitative laryngeal electromyography, videolaryngostroboscopy, voice acoustic analysis, the Voice Outcome Survey, and the Short Form-36 Health Survey quality-of-life questionnaire. Patients with idiopathic and iatrogenic vocal fold paralysis were compared. A total of 124 patients were recruited. Of those, 17 with no definite identified causes after evaluation and follow-up were assigned to the idiopathic group. The remaining 107 patients with surgery-induced vocal fold paralysis were assigned to the iatrogenic group. Patients in the idiopathic group had higher recruitment of the thyroarytenoid-lateral cricoarytenoid muscle complex and better quality of life compared with the iatrogenic group. Idiopathic unilateral vocal fold paralysis has a distinct clinical presentation, with relatively minor denervation changes in the involved laryngeal muscles, and less impact on quality of life compared with iatrogenic vocal fold paralysis. 4. Laryngoscope, 126:E362-E368, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

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

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Lowenstein, Daniel H

2011-10-01