Accelerated long-term forgetting in children with idiopathic generalized epilepsy.

Science.gov (United States)

Gascoigne, Michael B; Barton, Belinda; Webster, Richard; Gill, Deepak; Antony, Jayne; Lah, Suncica Sunny

2012-12-01

The rapid forgetting of information over long (but not short) delays (accelerated long-term forgetting [ALF]) has been associated with temporal lobe epilepsy but not idiopathic generalized epilepsy (IGE). Long-term memory formation (consolidation) is thought to demand an interaction between medial temporal and neocortical networks, which could be disrupted by epilepsy/seizures themselves. The present study investigates whether ALF is present in children with IGE and whether it relates to epilepsy severity. Sixty-one children (20 with IGE and 41 healthy controls [HC]) of comparable age, sex, and parental socioeconomic status completed neuropsychological tests, including a measure of verbal learning and recall after, short (30-min) and long (7-day) delays, and recognition. Epilepsy severity was rated by treating neurologists. A two-way repeated measures analysis of covariance (ANCOVA) found a significant Group x Delay interaction; the children with IGE recalled (and recognized) significantly fewer words after a long, but not short (2- and 30-min) delay relative to the HC children. Moreover, greater epilepsy severity was associated with poorer recognition. This study demonstrates, to our knowledge for the first time, that children with IGE present with ALF, which is related to epilepsy severity. These findings support the notion that epilepsy/seizures themselves may disrupt long-term memory consolidation, which interferes with day-to-day functioning of children with IGE. Wiley Periodicals, Inc. © 2012 International League Against Epilepsy.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

DEFF Research Database (Denmark)

Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J

2009-01-01

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously...... associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date....

Determination of Haptoglobin Genotype in an Iranian Population with Idiopathic Generalized Epilepsy

Directory of Open Access Journals (Sweden)

Sukaina Al-balaghee

2015-05-01

Full Text Available Background: Haptoglobin (Hp is a plasma α2-sialoglycoprotein that contains alpha and beta chains. It displays in three common phenotypes, Hp1-1, Hp2-1, and Hp2-2. Proteins expressed by polymorphic genes have grossly different molecular sizes resulting in different diffusion rates in the brain. Haptoglobin expressed by the Hp2-2 genotype has lower hemoglobin-binding capacity than Hp1-1 or Hp2-1 and is associated with idiopathic generalized epilepsy. Methods: To determine polymorphism in haptoglobin genes in patients with idiopathic generalized tonic-clonic seizures, 42 men, 42 women, and 50 controls were selected for this study. Genomic DNA was extracted from blood and studied by polymerase chain reactions (PCR. Results: The amplified fragments for the Hp1-1 and Hp2-2 genotypes were 1757 and 3481 base pairs (bp respectively, and the Hp2-1 genotype had both fragments, in addition to a 349-bp fragment. The distribution of the three major Hp phenotypes in epilepsy patients was 28.6 (1-1, 38.1 (2-1, and 33.3% (2-2 in the men, and 31 (1-1, 40.5 (2-1, and 28.6% (2-2 in the women. The distribution of Hp genotypes in controls was 22 (1-1, 40 (2-1, and 38% (2-2. Conclusion: We show that all Hp genotypes participate in idiopathic generalized epilepsy.

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

Science.gov (United States)

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.

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( ...

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

DEFF Research Database (Denmark)

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

DEFF Research Database (Denmark)

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

2009-01-01

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

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

Science.gov (United States)

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

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 prospective observational longitudinal study of new-onset seizures and newly diagnosed epilepsy in dogs

DEFF Research Database (Denmark)

Fredsø, N; Toft, Nils; Sabers, A.

2017-01-01

Seizures are common in dogs and can be caused by non-epileptic conditions or epilepsy. The clinical course of newly diagnosed epilepsy is sparsely documented. The objective of this study was to prospectively investigate causes for seizures (epileptic and non-epileptic) in a cohort of dogs with new...... structural epilepsy. A non-epileptic cause for seizures was identified in 13 dogs and suspected in 10 dogs. Four dogs in which no cause for seizures was identified experienced only one seizure during the study. In dogs with idiopathic epilepsy 60% had their second epileptic seizure within three months...... seizures motivated early treatment. In a few dogs with a high seizure frequency owners declined treatment against the investigators advice. Epilepsy is the most likely diagnosis in dogs presenting with new-onset seizures. The course of idiopathic epilepsy is highly individual and might not necessarily...

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.

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

Science.gov (United States)

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.)

[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.

[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.

Idiopathic epileptic syndromes and cognition.

Science.gov (United States)

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

2006-01-01

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

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?

Science.gov (United States)

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

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre; Hjalgrim, Helle

2011-01-01

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

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...

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.

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

Science.gov (United States)

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.

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)

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

Science.gov (United States)

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

Directory of Open Access Journals (Sweden)

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.

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

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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.

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

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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

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...

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

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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.

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

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

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.

Epilepsy in Qatar: Causes, treatment, and outcome.

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Haddad, Naim; Melikyan, Gayane; Al Hail, Hassan; Al Jurdi, Ayman; Aqeel, Faten; Elzafarany, Abdullah; Abuhadra, Nour; Laswi, Mujahed; Alsamman, Yasser; Uthman, Basim; Deleu, Dirk; Mesraoua, Boulenouar; Alarcon, Gonzalo; Azar, Nabil; Streletz, Leopold; Mahfoud, Ziyad

2016-10-01

Qatar is a small country on the Eastern coast of the Arabian Peninsula. Its population is a unique mixture of native citizens and immigrants. We aimed to describe the features of epilepsy in Qatar as such information is virtually lacking from the current literature. We summarized information retrospectively collected from 468 patients with epilepsy seen through the national health system adult neurology clinic. Epilepsy was classified as focal in 65.5% of the cases and generalized in 23%. Common causes of epilepsy were as follows: stroke (9%), hippocampal sclerosis (7%), infections (6%), and trauma (6%). Sixty-six percent of patients were receiving a single antiepileptic drug, with levetiracetam being the most frequently prescribed drug (41% of subjects). When the patients were divided by geographical background, remote infections caused the epilepsy in 15% of Asian patients (with neurocysticercosis accounting for 10%) but only in 1% of Qatari and 3% of Middle East/North African subjects (with no reported neurocysticercosis) (pepilepsy in Qatar. The geographical origin of patients adds to the heterogeneity of this disorder. Neurocysticercosis should be in the etiological differential diagnosis of epilepsy in patients coming from Southeast Asian countries, despite the fact that it is not endemic to Qatar. The choice of antiepileptic drugs is influenced by the availability of individual agents in the patients' native countries but had no bearing on the final seizure outcome. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

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

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

2015-12-01

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

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.

Epilepsie aktuell

DEFF Research Database (Denmark)

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

2016-01-01

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

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

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Grønborg, Sabine; Uldall, Peter

2014-01-01

BACKGROUND: Patients with epilepsy, including children, have an increased mortality rate when compared to the general population. Only few studies on causes of mortality in childhood epilepsy exist and pediatric SUDEP rate is under continuous discussion. AIM: To describe general mortality......, incidence of sudden unexpected death in epilepsy (SUDEP), causes of death and age distribution in a pediatric epilepsy patient population. METHODS: The study retrospectively examined the mortality and causes of death in 1974 patients with childhood-onset epilepsy at a tertiary epilepsy center in Denmark...... that underwent dietary epilepsy treatment was slightly higher than in the general cohort. There were no epilepsy-related deaths due to drowning. CONCLUSIONS: This study confirms that SUDEP must not be disregarded in the pediatric age group. The vast majority of SUDEP cases in this study displays numerous risk...

Epilepsy, excess deaths and years of life lost from external causes.

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Nevalainen, Olli; Simola, Mikko; Ansakorpi, Hanna; Raitanen, Jani; Artama, Miia; Isojärvi, Jouko; Auvinen, Anssi

2016-05-01

We systematically quantified excess mortality in epilepsy patients by cause of death using the population-attributable fraction and epilepsy-attributable years of potential life lost (YPLL) by age 75 years at ages 15 and over. We updated and undertook a re-review of mortality studies from our previous systematic review following PRISMA guidelines to identify cohort studies of general epilepsy populations reporting a relative risk (RR) of death by cause relative to the background rates in the population. Studies on epilepsy prevalence were identified through published reviews. Country-specific mortality figures were obtained from the WHO World Mortality Database. We performed a pooled analysis with the DerSimonian-Laird random effects method. In countries with very high Human Development Indices, epilepsy contributed to 0.5-1.1 % of all deaths in the total population. Among external causes, suicides (RR 2.9, 95 % confidence interval 2.2-3.8; I(2) 52 %) were the major contributor to YPLL, corresponding to 6.7 % and 4.2 % of excess YPLL due to epilepsy in the United States (US) and in the United Kingdom (UK) in 2010, with 541 (346-792) and 44 (28-65) excess suicide cases, respectively. Fatal accidental falls were more common, with 813 (610-1064) and 95 (71-125) excess deaths in the US and in the UK, but these caused only 2.0 % of excess YPLL as they occurred in older age groups. Suicides were the most important external cause of death in epilepsy patients in terms of excess YPLL, whereas other external causes were either more common in older ages or caused less excess deaths.

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.

Angelman syndrome, cause of epilepsy in infants

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

2014-01-01

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

Infective Causes of Epilepsy.

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Bonello, M; Michael, B D; Solomon, T

2015-06-01

A wide range of infections of the central nervous system are responsible for both acute seizures and epilepsy. The pathogenesis and clinical semiology of the seizure disorders vary widely between the infective pathogens. The exact mechanisms underlying this are poorly understood, but appear, at least in part, to relate to the pathogen; the degree of cortical involvement; delays in treatment; and the host inflammatory response. The treatment of infective causes of seizures involves both symptomatic treatment with antiepileptic drugs and direct treatment of the underlying condition. In many cases, early treatment of the infection may affect the prognosis of the epilepsy syndrome. The greatest burden of acute and long-term infection-related seizures occurs in resource-poor settings, where both clinical and research facilities are often lacking to manage such patients adequately. Nevertheless, education programs may go a long way toward addressing the stigma, leading to improved diagnosis, management, and ultimately to better quality of life. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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.

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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

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.

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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.

Familial risk of epilepsy: a population-based study

Science.gov (United States)

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

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

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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.

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.

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

Science.gov (United States)

Grønborg, Sabine; Uldall, Peter

2014-01-01

Patients with epilepsy, including children, have an increased mortality rate when compared to the general population. Only few studies on causes of mortality in childhood epilepsy exist and pediatric SUDEP rate is under continuous discussion. To describe general mortality, incidence of sudden unexpected death in epilepsy (SUDEP), causes of death and age distribution in a pediatric epilepsy patient population. The study retrospectively examined the mortality and causes of death in 1974 patients with childhood-onset epilepsy at a tertiary epilepsy center in Denmark over a period of 9 years. Cases of death were identified through their unique civil registration number. Information from death certificates, autopsy reports and medical notes were collected. 2.2% (n = 43) of the patient cohort died during the study period. This includes 9 patients with SUDEP (8 SUDEP cases per 10,000 patient years). 9 patients died in the course of neurodegenerative disease and 28 children died of various causes. Epilepsy was considered drug resistant in more than 95% of the deceased patients, 90% were diagnosed with intellectual disability. Mortality of patients that underwent dietary epilepsy treatment was slightly higher than in the general cohort. There were no epilepsy-related deaths due to drowning. This study confirms that SUDEP must not be disregarded in the pediatric age group. The vast majority of SUDEP cases in this study displays numerous risk factors similar to those described in adult epilepsy patients. Including SUDEP, only 30% of the mortality was directly seizure related. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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

Energy Technology Data Exchange (ETDEWEB)

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.)

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.

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

Cause of death in patients with poststroke epilepsy: Results from a nationwide cohort study.

Science.gov (United States)

Hansen, Julia; Åsberg, Signild; Kumlien, Eva; Zelano, Johan

2017-01-01

The risk of death is increased for persons with epilepsy. The literature on causes of death in epilepsy is based mainly on cohorts with epilepsy of mixed aetiologies. For clinical purposes and improved understanding of mortality in different epilepsies, more information is needed on mortality in epilepsies of specific causes. In poststroke epilepsy (PSE), seizures occur in a setting of vascular disease and high mortality rates. The extent to which epilepsy contributes to mortality in this patient group is poorly understood. We therefore aimed to describe causes of death (COD) in PSE on a national scale. A previously identified cohort of 7740 patients with epilepsy or seizures after a stroke in 2005-2010 was investigated. A total of 4167 deaths occurred before the end of 2014. The standardized mortality ratio for the study cohort was 3.56 (95% CI: 3.45-3.67). The main underlying causes of death were disorders of the circulatory system (60%) followed by neoplasms (12%). Diseases of the nervous system were the sixth leading underlying COD (3%), and epilepsy or status epilepticus was considered the underlying COD in approximately a similar proportion of cases as neurodegenerative disorders (0.9% and 1.1%, respectively). Epilepsy was considered a contributing COD in 14% of cases. Our findings highlight the importance of optimal management of vascular morbidity in patients with PSE. The large proportion of patients with epilepsy as a contributing COD indicate the need of high ambitions also regarding the management of seizures in patients with PSE.

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Science.gov (United States)

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

2014-02-04

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

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

Abdominal epilepsy as an unusual cause ofabdominal pain: A case ...

African Journals Online (AJOL)

Introduction: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. Objectives: In this article, we report on 5 year old girl patient with abdominal epilepsy. Methods: Some investigations (stool investigation, routine blood tests, ...

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

Epidemiology, causes, and treatment of epilepsy in sub-Saharan Africa

OpenAIRE

Ba-Diop, Awa; Marin, Beno?t; Druet-Cabanac, Michel; Ngoungou, Edgard B; Newton, Charles R; Preux, Pierre-Marie

2014-01-01

Epilepsy is a common neurological disease in tropical countries, particularly in sub-Saharan Africa. Previous work on epilepsy in sub-Saharan Africa has shown that many cases are severe, partly a result of some specific causes, that it carries a stigma, and that it is not adequately treated in many cases. Many studies on the epidemiology, aetiology, and management of epilepsy in sub-Saharan Africa have been reported in the past 10 years. The prevalence estimated from door-to-door studies is a...

Neurological autoantibodies in drug-resistant epilepsy of unknown cause.

Science.gov (United States)

Tecellioglu, Mehmet; Kamisli, Ozden; Kamisli, Suat; Yucel, Fatma Ebru; Ozcan, Cemal

2018-03-09

Autoimmune epilepsy is a rarely diagnosed condition. Recognition of the underlying autoimmune condition is important, as these patients can be resistant to antiepileptic drugs. To determine the autoimmune and oncological antibodies in adult drug-resistant epilepsy of unknown cause and identify the clinical, radiological, and EEG findings associated with these antibodies according to data in the literature. Eighty-two patients with drug-resistant epilepsy of unknown cause were prospectively identified. Clinical features were recorded. The levels of anti-voltage-gated potassium channel complex (anti-VGKCc), anti-thyroid peroxidase (anti-TPO), anti-nuclear antibody (ANA), anti-glutamic acid decarboxylase (anti-GAD), anti-phospholipid IgG and IgM, anti-cardiolipin IgG and IgM, and onconeural antibodies were determined. Serum antibody positivity suggesting the potential role of autoimmunity in the aetiology was present in 17 patients with resistant epilepsy (22.0%). Multiple antibodies were found in two patients (2.6%). One of these patients (1.3%) had anti-VGKCc and ANA, whereas another (1.3%) had anti-VGKCc and anti-TPO. A single antibody was present in 15 patients (19.5%). Of the 77 patients finally included in the study, 4 had anti-TPO (5.2%), 1 had anti-GAD (1.3%), 4 had anti-VGKCc (5.2%) 8 had ANA (10.3%), and 2 had onconeural antibodies (2.6%) (1 patient had anti-Yo and 1 had anti-MA2/TA). The other antibodies investigated were not detected. EEG abnormality (focal), focal seizure incidence, and frequent seizures were more common in antibody-positive patients. Autoimmune factors may be aetiologically relevant in patients with drug-resistant epilepsy of unknown cause, especially if focal seizures are present together with focal EEG abnormality and frequent seizures.

Genetic causes of congenital brain malformations in epilepsy patients

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre

2008-01-01

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

[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.

Cause of death and predictors of mortality in a community-based cohort of people with epilepsy.

Science.gov (United States)

Keezer, Mark R; Bell, Gail S; Neligan, Aidan; Novy, Jan; Sander, Josemir W

2016-02-23

The risk of premature mortality is increased in people with epilepsy. The reasons for this and how it may relate to epilepsy etiology remain unclear. The National General Practice Study of Epilepsy is a prospective, community-based cohort that includes 558 people with recurrent unprovoked seizures of whom 34% died during almost 25 years of follow-up. We assessed the underlying and immediate causes of death and their relationship to epilepsy etiology. Psychiatric and somatic comorbidities of epilepsy as predictors of mortality were scrutinized using adjusted Cox proportional hazards models. The 3 most common underlying causes of death were noncerebral neoplasm, cardiovascular, and cerebrovascular disease, accounting for 59% (111/189) of deaths, while epilepsy-related causes (e.g., sudden unexplained death in epilepsy) accounted for 3% (6/189) of deaths. In 23% (43/189) of individuals, the underlying cause of death was directly related to the epilepsy etiology; this was significantly more likely if death occurred within 2 years of the index seizure (percent ratio 4.28 [95% confidence interval 2.63-6.97]). Specific comorbidities independently associated with increased risk of mortality were neoplasms (primary cerebral and noncerebral neoplasm), certain neurologic diseases, and substance abuse. Comorbid diseases are important causes of death, as well as predictors of premature mortality in epilepsy. There is an especially strong relationship between cause of death and epilepsy etiology in the first 2 years after the index seizure. Addressing these issues may help stem the tide of premature mortality in epilepsy. © 2016 American Academy of Neurology.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Astrocyte uncoupling as a cause of human temporal lobe epilepsy.

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Bedner, Peter; Dupper, Alexander; Hüttmann, Kerstin; Müller, Julia; Herde, Michel K; Dublin, Pavel; Deshpande, Tushar; Schramm, Johannes; Häussler, Ute; Haas, Carola A; Henneberger, Christian; Theis, Martin; Steinhäuser, Christian

2015-05-01

Glial cells are now recognized as active communication partners in the central nervous system, and this new perspective has rekindled the question of their role in pathology. In the present study we analysed functional properties of astrocytes in hippocampal specimens from patients with mesial temporal lobe epilepsy without (n = 44) and with sclerosis (n = 75) combining patch clamp recording, K(+) concentration analysis, electroencephalography/video-monitoring, and fate mapping analysis. We found that the hippocampus of patients with mesial temporal lobe epilepsy with sclerosis is completely devoid of bona fide astrocytes and gap junction coupling, whereas coupled astrocytes were abundantly present in non-sclerotic specimens. To decide whether these glial changes represent cause or effect of mesial temporal lobe epilepsy with sclerosis, we developed a mouse model that reproduced key features of human mesial temporal lobe epilepsy with sclerosis. In this model, uncoupling impaired K(+) buffering and temporally preceded apoptotic neuronal death and the generation of spontaneous seizures. Uncoupling was induced through intraperitoneal injection of lipopolysaccharide, prevented in Toll-like receptor4 knockout mice and reproduced in situ through acute cytokine or lipopolysaccharide incubation. Fate mapping confirmed that in the course of mesial temporal lobe epilepsy with sclerosis, astrocytes acquire an atypical functional phenotype and lose coupling. These data suggest that astrocyte dysfunction might be a prime cause of mesial temporal lobe epilepsy with sclerosis and identify novel targets for anti-epileptogenic therapeutic intervention. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Epidemiology, causes, and treatment of epilepsy in sub-Saharan Africa.

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Ba-Diop, Awa; Marin, Benoît; Druet-Cabanac, Michel; Ngoungou, Edgard B; Newton, Charles R; Preux, Pierre-Marie

2014-10-01

Epilepsy is a common neurological disease in tropical countries, particularly in sub-Saharan Africa. Previous work on epilepsy in sub-Saharan Africa has shown that many cases are severe, partly a result of some specific causes, that it carries a stigma, and that it is not adequately treated in many cases. Many studies on the epidemiology, aetiology, and management of epilepsy in sub-Saharan Africa have been reported in the past 10 years. The prevalence estimated from door-to-door studies is almost double that in Asia, Europe, and North America. The most commonly implicated risk factors are birth trauma, CNS infections, and traumatic brain injury. About 60% of patients with epilepsy receive no antiepileptic treatment, largely for economic and social reasons. Further epidemiological studies should be a priority to improve understanding of possible risk factors and thereby the prevention of epilepsy in Africa, and action should be taken to improve access to treatment. Copyright © 2014 Elsevier Ltd. All rights reserved.

Psychiatric Comorbidity in Children with New Onset Epilepsy

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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

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.

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

Learning and Memory in Children with Epilepsy

Directory of Open Access Journals (Sweden)

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.

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

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

2014-01-01

ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B-6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes........ We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without...

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

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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...

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.

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.

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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.

Epilepsy

Science.gov (United States)

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

CLINICAL AND ELECTROENCEPHALOGRAPHIC CHANGES IN JUVENILE MYOCLONIC EPILEPSY (A LECTURE

Directory of Open Access Journals (Sweden)

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 features, proximate causes, and consequences of active convulsive epilepsy in Africa.

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Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian G R; Newton, Charles R J C; Twine, Rhian; Gómez Olivé, F Xavier; Collinson, Mark; Kahn, Kathleen; Tollman, Stephen; Masanja, Honratio; Mathew, Alexander; Pariyo, George; Peterson, Stefan; Ndyomughenyi, Donald; Bauni, Evasius; Kamuyu, Gathoni; Odera, Victor Mung'ala; Mageto, James O; Ae-Ngibise, Ken; Akpalu, Bright; Agbokey, Francis; Adjei, Patrick; Owusu-Agyei, Seth; Kleinschmidt, Immo; Doku, Victor C K; Odermatt, Peter; Nutman, Thomas; Wilkins, Patricia; Noh, John

2014-01-01

Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. We performed a detailed clinical and neurophysiologic description of ACE cases identified from a community survey of 584,586 people using medical history, neurologic examination, and electroencephalography (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya; and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types, and neurologic deficits) were present in 58% of ACE cases, and these varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the most common drug [95%]), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; and acute encephalopathy (10%) and head injury prior to seizure onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%), and neurologic deficits (15%). The consequences of ACE were burns (16%), head injuries (postseizure) (1%), lack of education (43%), and being unmarried (67%) or unemployed (57%) in adults, all significantly more common than in those without epilepsy. There were significant differences in the comorbidities across sites. Focal features are common in ACE, suggesting identifiable and preventable causes. Malnutrition and

Clinical features, proximate causes, and consequences of active convulsive epilepsy in Africa

Science.gov (United States)

Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian G R; Newton, Charles R J C

2014-01-01

Purpose Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. Methods We performed a detailed clinical and neurophysiologic description of ACE cases identified from a community survey of 584,586 people using medical history, neurologic examination, and electroencephalography (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya; and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Key Findings Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types, and neurologic deficits) were present in 58% of ACE cases, and these varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the most common drug [95%]), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; and acute encephalopathy (10%) and head injury prior to seizure onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%), and neurologic deficits (15%). The consequences of ACE were burns (16%), head injuries (postseizure) (1%), lack of education (43%), and being unmarried (67%) or unemployed (57%) in adults, all significantly more common than in those without epilepsy. Significance There were significant differences in the comorbidities across sites. Focal features are common in ACE, suggesting identifiable and

Anesthesia-induced epilepsy: causes and treatment.

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Zhao, Xiaojuan; Wang, Xuefeng

2014-09-01

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

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.

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

Dixit, Abhijit; Suri, Mohnish

2016-04-01

Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

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

[The causes of symptomatic epilepsy in children aged 3-18 years hospitalized in the year 2006-2007].

Science.gov (United States)

Gergont, Aleksandra; Kroczka, Sławomir; Kaciński, Marek

2008-01-01

Epilepsy can be one of symptoms of the damage to CNS in children with neurodevelopmental deficits, it is more difficult however to diagnose seizures if they are the first symptom of severe brain damage. This retrospective research was conducted to study causes of symptomatic epilepsy in children aged 3-18 year hospitalized between 2006 and 2007 year in the Department of Pediatric Neurology. 156 children with symptomatic epilepsy occurred after 2 years of life were included. The diagnosis of symptomatic epilepsy was established including clinical picture, neuro-radiological tests and EEG. The information from parents was helpful to analyze the type of seizures. The clinical state of children was analyzed, especially psychomotor development, focal deficits, as well as results of CT and/or MRI, in some children psychological testing was performed, molecular or serological. 156 children with epilepsy were hospitalized, within encephalopathy was diagnosed in 61 children. In 42 children static encephalopathy was associated with birth trauma, in 7 progressive encephalopathy was diagnosed, in 1 child CO intoxication caused encephalopathy, and in 11 cases the cause was not identified. Malformations of nervous system were associated with epilepsy in 37 children, geneticaly determined syndromes in 6, and the head trauma in other 6 children. Disorders of vascular origin caused epilepsy in 16 children, and neuroinfections in 9 children. In 2 children epilepsy was associated with ADEM, and in 11 children nonspecific de/dysmyelination was detected. The brain tumor was detected in 6 children with symptomatic epilepsy. The most common disorder leading to epilepsy in children aged 3-18 years was encephalopathy, within hypoxic-ischemic encephalopathy. The other in sequence were malformations of nervous system and vascular diseases.

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

Science.gov (United States)

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

Idiopathic fibrosing pancreatitis: a rare cause of chronic obstructive jaundice in childhood

International Nuclear Information System (INIS)

Park, Hye Seong; Kim, Hyun Sook; Kim, Hack Hee; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee

1992-01-01

We report a 14-months-old infant who had obstructive jaundice caused by idiopathic fibrosing pancreatitis. Ultrasonography and abdominal computed tomography showed dilatation of the intrahepatic ducts, common bile duct, and the pancreatic duct. Diffuse swelling of the pancreas was also noted on CT. At laparotomy, the head portion of the pancreas revealed a stony hard consistency, and proliferation of fibrotic tissue was confirmed pathologically. Idiopathic fibrosing pancreatitis is a very rare disease entity in childhood, but should be considered in the differential diagnosis of obstructive jaundice in children who demonstrate bile duct and pancreatic duct dilatation and/or diffuse pancreas swelling

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)

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

Epilepsy

Science.gov (United States)

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

Epilepsy caused by CDKL5 mutations.

Science.gov (United States)

Castrén, Maija; Gaily, Eija; Tengström, Carola; Lähdetie, Jaana; Archer, Hayley; Ala-Mello, Sirpa

2011-01-01

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene. © 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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

Directory of Open Access Journals (Sweden)

Adham Elshahabi

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

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.

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

Science.gov (United States)

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.

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.

Science.gov (United States)

Vilarinho, Sílvia; Sari, Sinan; Yilmaz, Güldal; Stiegler, Amy L; Boggon, Titus J; Jain, Dhanpat; Akyol, Gulen; Dalgic, Buket; Günel, Murat; Lifton, Richard P

2016-06-01

Despite advances in the diagnosis and management of idiopathic noncirrhotic portal hypertension, its pathogenesis remains elusive. Insight may be gained from study of early-onset familial idiopathic noncirrhotic portal hypertension, in which Mendelian mutations may account for disease. We performed exome sequencing of eight subjects from six kindreds with onset of portal hypertension of indeterminate etiology during infancy or childhood. Three subjects from two consanguineous families shared the identical rare homozygous p.N46S mutation in DGUOK, a deoxyguanosine kinase required for mitochondrial DNA replication; haplotype sharing demonstrated that the mutation in the two families was inherited from a remote common ancestor. All three affected subjects had stable portal hypertension with noncirrhotic liver disease for 6-16 years of follow-up. This mutation impairs adenosine triphosphate binding and reduces catalytic activity. Loss-of-function mutations in DGUOK have previously been implicated in cirrhosis and liver failure but not in isolated portal hypertension. Interestingly, treatment of patients with human immunodeficiency viral infection with the nucleoside analogue didanosine is known to cause portal hypertension in a subset of patients and lowers deoxyguanosine kinase levels in vitro; the current findings implicate these effects on deoxyguanosine kinase in the causal mechanism. Our findings provide new insight into the mechanisms mediating inherited and acquired noncirrhotic portal hypertension, expand the phenotypic spectrum of DGUOK deficiency, and provide a new genetic test for a specific cause of idiopathic noncirrhotic portal hypertension. (Hepatology 2016;63:1977-1986). © 2016 by the American Association for the Study of Liver Diseases.

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...

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...

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.

Epilepsy

Science.gov (United States)

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

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.)

Occipital lobe seizures and epilepsies.

Science.gov (United States)

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.

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 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

Idiopathic anaphylaxis.

Science.gov (United States)

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.

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

Cause-specific mortality among children and young adults with epilepsy: Results from the U.S. National Child Death Review Case Reporting System.

Science.gov (United States)

Tian, Niu; Shaw, Esther C; Zack, Matthew; Kobau, Rosemarie; Dykstra, Heather; Covington, Theresa M

2015-04-01

We investigated causes of death in children and young adults with epilepsy by using data from the U.S. National Child Death Review Case Reporting System (NCDR-CRS), a passive surveillance system composed of comprehensive information related to deaths reviewed by local child death review teams. Information on a total of 48,697 deaths in children and young adults 28days to 24years of age, including 551 deaths with epilepsy and 48,146 deaths without epilepsy, was collected from 2004 through 2012 in 32 states. In a proportionate mortality analysis by official manner of death, decedents with epilepsy had a significantly higher percentage of natural deaths but significantly lower percentages of deaths due to accidents, homicide, and undetermined causes compared with persons without epilepsy. With respect to underlying causes of death, decedents with epilepsy had significantly higher percentages of deaths due to drowning and most medical conditions including pneumonia and congenital anomalies but lower percentages of deaths due to asphyxia, weapon use, and unknown causes compared with decedents without epilepsy. The increased percentages of deaths due to pneumonia and drowning in children and young adults with epilepsy suggest preventive interventions including immunization and better instruction and monitoring before or during swimming. State-specific and national population-based mortality studies of children and young adults with epilepsy are recommended. Published by Elsevier Inc.

Burden, causes, and outcomes of people with epilepsy admitted to a rural hospital in Kenya.

Science.gov (United States)

Kariuki, Symon M; Chengo, Eddie; Ibinda, Fredrick; Odhiambo, Rachael; Etyang, Anthony; Ngugi, Anthony K; Newton, Charles R J C

2015-04-01

People with epilepsy (PWE) develop complications and comorbidities often requiring admission to hospital, which adds to the burden on the health system, particularly in low-income countries. We determined the incidence, disability-adjusted life years (DALYs), risk factors, and causes of admissions in PWE. We also examined the predictors of prolonged hospital stay and death using data from linked clinical and demographic surveillance system. We studied children and adults admitted to a Kenyan rural hospital, between January 2003 and December 2011, with a diagnosis of epilepsy. Poisson regression was used to compute incidence and rate ratios, logistic regression to determine associated factors, and the DALY package of the R-statistical software to calculate years lived with disability (YLD) and years of life lost (YLL). The overall incidence of admissions was 45.6/100,000 person-years of observation (PYO) (95% confidence interval [95% CI] 43.0-48.7) and decreased with age (p causes of admission were epilepsy-related complications: convulsive status epilepticus (CSE) (38%), and postictal coma (12%). Age was independently associated with prolonged hospital stay (OR 1.02, 95% CI 1.00-1.04) and mortality (OR, 1.07, 95% CI 1.04-1.10). Epilepsy is associated with significant number of admissions to hospital, considerable duration of admission, and mortality. Improved supply of AEDs in the community, early initiation of treatment, and adherence would reduce hospitalization of PWE and thus the burden of epilepsy on the health system. © 2015 The Authors. Epilepsia published by Wiley Periodicals, Inc. on behalf of International League Against Epilepsy.

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

Science.gov (United States)

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.

Clinical application of multifocal visual evoked potentials in children with epilepsy caused by intracranial disease

International Nuclear Information System (INIS)

Yukawa, Eiichi; Kim, Yeong-Jin; Kawasaki, Kensuke; Yoshii, Toshiaki; Hara, Yoshiaki

2006-01-01

We investigated whether visual field defects could be objectively evaluated using multifocal visual evoked potential (m-VEP) in two children with epilepsy caused by intracranial disease in whom it was difficult to measure the visual field. To determine normal waves in m-VEP, recording was performed using a visual evoked response imaging system (VERIS) Junior Science program (Mayo, Aichi, Japan) in 20 healthy children (20 eyes) peak latency and amplitude were used for assessment. In the two children with epilepsy, m-VEPs were recorded, and compared with the results of static perimetry or the lesions observed by Magnetic Resonance Imaging (MRI). In the 20 healthy children, there was no significant difference in the peak latency or amplitude among 4 quadrants by one-way analysis of variance. m-VEP in the children with epilepsy showed abnormal waves, corresponding to the visual field defects in the static perimetry or the lesions observed by MRI. Objective evaluation of visual field defects using m-VEP may be useful in children with epilepsy caused by intracranial disease in whom kinetic/static perimetry as a subjective examination is difficult. (author)

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...

Premature mortality in active convulsive epilepsy in rural Kenya: causes and associated factors.

Science.gov (United States)

Ngugi, Anthony K; Bottomley, Christian; Fegan, Gregory; Chengo, Eddie; Odhiambo, Rachael; Bauni, Evasius; Neville, Brian; Kleinschmidt, Immo; Sander, Josemir W; Newton, Charles R

2014-02-18

We estimated premature mortality and identified causes of death and associated factors in people with active convulsive epilepsy (ACE) in rural Kenya. In this prospective population-based study, people with ACE were identified in a cross-sectional survey and followed up regularly for 3 years, during which information on deaths and associated factors was collected. We used a validated verbal autopsy tool to establish putative causes of death. Age-specific rate ratios and standardized mortality ratios were estimated. Poisson regression was used to identify mortality risk factors. There were 61 deaths among 754 people with ACE, yielding a rate of 33.3/1,000 persons/year. Overall standardized mortality ratio was 6.5. Mortality was higher across all ACE age groups. Nonadherence to antiepileptic drugs (adjusted rate ratio [aRR] 3.37), cognitive impairment (aRR 4.55), and age (50+ years) (rate ratio 4.56) were risk factors for premature mortality. Most deaths (56%) were directly related to epilepsy, with prolonged seizures/possible status epilepticus (38%) most frequently associated with death; some of these may have been due to sudden unexpected death in epilepsy (SUDEP). Possible SUDEP was the likely cause in another 7%. Mortality in people with ACE was more than 6-fold greater than expected. This may be reduced by improving treatment adherence and prompt management of prolonged seizures and supporting those with cognitive impairment.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

DEFF Research Database (Denmark)

Muona, M.; Berkovic, S. F.; Dibbens, L. M.

2015-01-01

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonicclonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo...

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

Cause-specific mortality among children and young adults with epilepsy: Results from the U.S. National Child Death Review Case Reporting System ☆

Science.gov (United States)

Tian, Niu; Shaw, Esther C.; Zack, Matthew; Kobau, Rosemarie; Dykstra, Heather; Covington, Theresa M.

2015-01-01

We investigated causes of death in children and young adults with epilepsy by using data from the U.S. National Child Death Review Case Reporting System (NCDR-CRS), a passive surveillance system composed of comprehensive information related to deaths reviewed by local child death review teams. Information on a total of 48,697 deaths in children and young adults 28 days to 24 years of age, including 551 deaths with epilepsy and 48,146 deaths without epilepsy, was collected from 2004 through 2012 in 32 states. In a proportionate mortality analysis by official manner of death, decedents with epilepsy had a significantly higher percentage of natural deaths but significantly lower percentages of deaths due to accidents, homicide, and undetermined causes compared with persons without epilepsy. With respect to underlying causes of death, decedents with epilepsy had significantly higher percentages of deaths due to drowning and most medical conditions including pneumonia and congenital anomalies but lower percentages of deaths due to asphyxia, weapon use, and unknown causes compared with decedents without epilepsy. The increased percentages of deaths due to pneumonia and drowning in children and young adults with epilepsy suggest preventive interventions including immunization and better instruction and monitoring before or during swimming. State-specific and national population-based mortality studies of children and young adults with epilepsy are recommended. PMID:25794682

Trends in reporting injury as a cause of death among people with epilepsy in the U.S., 1981-2010.

Science.gov (United States)

Chang, Chia-Yu; Lu, Tsung-Hsueh; Cheng, Tain-Junn

2014-11-01

To examine trends in reporting injury as a cause of death among people with epilepsy in the U.S. during the past three decades. We analyzed the U.S. multiple causes of death data from death certificates in 1981-2010 to compare rate and odds ratios (OR) of reporting injury as cause of death among cases with vs. without mention of epilepsy across years. The trends in reporting epilepsy with and without injury were similar in most age groups but were inconsistent in most external causes of injury. The OR of reporting injury was 1.02 (95% confidence intervals (CI) 0.97-1.07) in 1981-1985 and decreased to 0.52 (95% CI 0.48-0.55) in 2006-2010. The decline in OR was prominent among people aged 15-24 followed by people aged 25-44. For the five external causes of injury, the OR of suffocation and drowning were 6.32 (95% CI 5.91-6.75) and 5.64 (95% CI 5.16-6.16) in 1981-1985 and decreased to 3.03 (95% CI 2.74-3.35) and 2.56 (95% CI 2.18-3.00) in 2006-2010. The OR for poisoning and traffic crashes were 0.70 (95% CI 0.57-0.85) and 0.08 (95% CI 0.07-0.09) in 1981-1985 and 0.21 (95% CI 0.18-0.25) and 0.06 (95% CI 0.05-0.08) in 2006-2010. The risk of fatal injury among people with epilepsy decreased drastically during the past three decades in most age groups and for most external causes of injury except falls. People with epilepsy had lower risks of dying from injury due to poisoning or traffic crashes, had higher risks of dying from suffocation and drowning. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Diagnosing and Solving School Learning Disabilities in Epilepsy: Part 2--A List of Causes

Science.gov (United States)

Mittan, Robert J.

2010-01-01

The possible causes of learning difficulties in children with epilepsy are long and complex. In order to see that a child is given an adequate evaluation, an understanding of what these many causes are and how those causes may be interrelated is necessary. This article discusses the first three of the six categories of the causes: (1) Organic; (2)…

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.

Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.

Science.gov (United States)

Verrotti, Alberto; Monacelli, Debora; Castagnino, Miriam; Villa, Maria Pia; Parisi, Pasquale

2014-11-01

Ehlers-Danlos syndrome (EDS) comprises a variety of inherited connective tissue disorders that have been described in association with various neurological features. Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible association between EDS, epilepsy and periventricular heterotopia (PH). We have carried out a critical review of all cases of epilepsy in EDS patients with and without PH. Epilepsy is a frequent neurological manifestation of EDS; generally, it is characterized by focal seizures with temporo-parieto-occipital auras and the most common EEG findings epileptiform discharges and slow intermittent rhythm with delta-theta waves. Epilepsy in EDS patients is usually responsive to common antiepileptic therapy; very few cases of drug resistant focal epilepsy requested surgical treatment, with favorable results in terms of outcome. Epilepsy is the most common presenting neurological manifestation associated with PH in EDS patients. Abnormal anatomic circuitries (including heterotopic nodules) could generate epilepsy in patients with PH. Among the principal neurological manifestations, epilepsy and PH have a considerable importance and can influence the long-term evolution of these patients. We hypothesize that PH may determine the epileptic manifestations in patients with EDS; much remains to be learnt about the relationships between nodules and the epileptic manifestations in EDS syndrome. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.

Science.gov (United States)

Kang, Jing-Qiong; Shen, Wangzhen; Zhou, Chengwen; Xu, Dong; Macdonald, Robert L

2015-07-01

Genetic epilepsy and neurodegenerative diseases are two common neurological disorders that are conventionally viewed as being unrelated. A subset of patients with severe genetic epilepsies who have impaired development and often go on to die of their disease respond poorly to anticonvulsant drug therapy, suggesting a need for new therapeutic targets. Previously, we reported that multiple GABAA receptor epilepsy mutations result in protein misfolding and abnormal receptor trafficking. We have now developed a model of a severe human genetic epileptic encephalopathy, the Gabrg2(+/Q390X) knock-in mouse. We found that, in addition to impairing inhibitory neurotransmission, mutant GABAA receptor γ2(Q390X) subunits accumulated and aggregated intracellularly, activated caspase 3 and caused widespread, age-dependent neurodegeneration. These findings suggest that the fundamental protein metabolism and cellular consequences of the epilepsy-associated mutant γ2(Q390X) ion channel subunit are not fundamentally different from those associated with neurodegeneration. Our results have far-reaching relevance for the identification of conserved pathological cascades and mechanism-based therapies that are shared between genetic epilepsies and neurodegenerative diseases.

A single subconvulsant dose of domoic acid at mid-gestation does not cause temporal lobe epilepsy in mice.

Science.gov (United States)

Demars, Fanny; Clark, Kristen; Wyeth, Megan S; Abrams, Emily; Buckmaster, Paul S

2018-05-01

Harmful blooms of domoic acid (DA)-producing algae are a problem in oceans worldwide. DA is a potent glutamate receptor agonist that can cause status epilepticus and in survivors, temporal lobe epilepsy. In mice, one-time low-dose in utero exposure to DA was reported to cause hippocampal damage and epileptiform activity, leading to the hypothesis that unrecognized exposure to DA from contaminated seafood in pregnant women can damage the fetal hippocampus and initiate temporal lobe epileptogenesis. However, development of epilepsy (i.e., spontaneous recurrent seizures) has not been tested. In the present study, long-term seizure monitoring and histology was used to test for temporal lobe epilepsy following prenatal exposure to DA. In Experiment One, the previous study's in utero DA treatment protocol was replicated, including use of the CD-1 mouse strain. Afterward, mice were video-monitored for convulsive seizures from 2 to 6 months old. None of the CD-1 mice treated in utero with vehicle or DA was observed to experience spontaneous convulsive seizures. After seizure monitoring, mice were evaluated for pathological evidence of temporal lobe epilepsy. None of the mice treated in utero with DA displayed the hilar neuron loss that occurs in patients with temporal lobe epilepsy and in the mouse pilocarpine model of temporal lobe epilepsy. In Experiment Two, a higher dose of DA was administered to pregnant FVB mice. FVB mice were tested as a potentially more sensitive strain, because they have a lower seizure threshold, and some females spontaneously develop epilepsy. Female offspring were monitored with continuous video and telemetric bilateral hippocampal local field potential recording at 1-11 months old. A similar proportion of vehicle- and DA-treated female FVB mice spontaneously developed epilepsy, beginning in the fourth month of life. Average seizure frequency and duration were similar in both groups. Seizure frequency was lower than that of positive

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

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Corbett, Mark A; Bellows, Susannah T; Li, Melody; Carroll, Renée; Micallef, Silvana; Carvill, Gemma L; Myers, Candace T; Howell, Katherine B; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V; Mefford, Heather C; Bahlo, Melanie; Berkovic, Samuel F; Petrou, Steven; Scheffer, Ingrid E; Gecz, Jozef

2016-11-08

To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations. A family with 7 affected individuals over 3 generations underwent detailed phenotyping. Whole genome sequencing was performed on a mildly affected grandmother and her grandson with epileptic encephalopathy (EE). Segregating variants were filtered and prioritized based on functional annotations. The effects of the mutation on channel function were analyzed in vitro by voltage clamp assay and in silico by molecular modeling. KCNA2 was sequenced in 35 probands with heterogeneous phenotypes. The 7 family members had episodic ataxia (5), self-limited infantile seizures (5), evolving to genetic generalized epilepsy (4), focal seizures (2), and EE (1). They had a segregating novel mutation in the shaker type voltage-gated potassium channel KCNA2 (CCDS_827.1: c.765_773del; p.255_257del). A rare missense SCN2A (rs200884216) variant was also found in 2 affected siblings and their unaffected mother. The p.255_257del mutation caused dominant negative loss of channel function. Molecular modeling predicted repositioning of critical arginine residues in the voltage-sensing domain. KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. A KCNA2 mutation caused dominantly inherited episodic ataxia, mild infantile-onset seizures, and later generalized and focal epilepsies in the setting of normal intellect. This observation expands the KCNA2 phenotypic spectrum from EE often associated with chronic ataxia, reflecting the marked variation in severity observed in many ion channel disorders. © 2016 American Academy of Neurology.

Causes of learning disability and epilepsy: a review.

Science.gov (United States)

Prince, Elizabeth; Ring, Howard

2011-04-01

Although the association between learning disability and epilepsy is well known, until relatively recently specific processes underlying this association were relatively poorly understood. However, scientific advances in molecular biology are starting to guide researchers towards descriptions of genetic and pathophysiological processes that may explain why syndromes of epilepsy and learning disability often co-exist. This article will focus largely on three areas of advancing knowledge: insights gained from wider use of genome-wide array comparative genomic hybridization (aCGH), specific insights gained from detailed study of Rett syndrome and the role of abnormalities of astrocytic function in predisposing to both epilepsy and learning disability. The enormous complexity of the biological underpinnings of the co-occurrence of epilepsy and learning disability are becoming apparent. In the future it is likely that research into therapeutic approaches will include, amongst other approaches, investigations of gene structure and expression, the role of astrocytes and the stability of dendritic spines.

Post-epilepsy stroke: A review.

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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.

[Depression and epilepsy : Two clinical pictures with common causes?].

Science.gov (United States)

Borgmann, M; Holtkamp, M; Adli, M; Behr, J

2016-07-01

Epilepsy and depressive disorders show a high rate of comorbidity. Thus, neurobiological similarities and a bidirectional relationship in terms of pathogenesis have been suggested. The aim of this article is to present the common neurobiological features of both disorders, to characterize the bidirectional relationship and to provide an overview of therapeutic consequences. A review of the current literature and evaluation of studies on the topics of depression and epilepsy are presented. Epilepsy and depression share common neurobiological features. In epileptic patients depression should be diagnosed early and reliably as the successful treatment has a great influence on the prognosis, quality of life and suicide risk in these individuals. In therapeutic doses, antidepressive medication with noradrenergic and specific serotonergic antidepressants (NaSSA) or selective serotonin reuptake inhibitors (SSRI) imparts no clinically relevant epileptogenic potential; however, it increases the quality of life and could have anticonvulsant effects in patients with epilepsy. Clomipramine, bupropion and maprotiline, however, should not be administered to patients with epilepsy as they are known to lower the seizure threshold.

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

Science.gov (United States)

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

2016-04-01

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

Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment.

Science.gov (United States)

Steele, Hannah E; Chinnery, Patrick F

2015-06-01

Mitochondrial disorders are frequently associated with seizures. In this review, the authors discuss the seizure patterns and distinguishing features of mitochondrial epilepsy, alongside the indications for investigating, and how to investigate epilepsy from a mitochondrial perspective. Finally, they discuss management strategies for this complex group of patients. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Rolandic epilepsy and dyslexia

Directory of Open Access Journals (Sweden)

Ecila P. Oliveira

2014-11-01

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

The risk and causes of death in childhoodonset epilepsy: A 4-study collaboration

NARCIS (Netherlands)

Berg, Anne T.; Nickels, K.; Wirrell, E.C.; Rios, C.; Geerts, A.T.; Callenbach, P.M.; Arts, W.F.; Camfield, P.R.; Camfield, C.S.

2013-01-01

Rationale: Young people with epilepsy experience high death rates compared to the general population. Understanding the magnitude of risk and the causes of death (CoD) is essential for counseling and for potential prevention. Methods: We combined the mortality experiences of four cohort studies of

Mutations in KCNT1 cause a spectrum of focal epilepsies

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

2018-01-01

Summary Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype–phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances. PMID:26122718

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

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Ribierre, Théo; Deleuze, Charlotte; Bacq, Alexandre; Baldassari, Sara; Marsan, Elise; Chipaux, Mathilde; Muraca, Giuseppe; Roussel, Delphine; Navarro, Vincent; Leguern, Eric; Miles, Richard; Baulac, Stéphanie

2018-04-30

DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epilepsies, with case reports of sudden unexpected death in epilepsy (SUDEP). Remarkably, a fraction of patients also develop focal cortical dysplasia (FCD), a neurodevelopmental cortical malformation. We therefore hypothesized that a somatic second-hit mutation arising during brain development may support the focal nature of the dysplasia. Here, using postoperative human tissue, we provide the proof of concept that a biallelic 2-hit - brain somatic and germline - mutational mechanism in DEPDC5 causes focal epilepsy with FCD. We discovered a mutation gradient with a higher rate of mosaicism in the seizure-onset zone than in the surrounding epileptogenic zone. Furthermore, we demonstrate the causality of a Depdc5 brain mosaic inactivation using CRISPR-Cas9 editing and in utero electroporation in a mouse model recapitulating focal epilepsy with FCD and SUDEP-like events. We further unveil a key role of Depdc5 in shaping dendrite and spine morphology of excitatory neurons. This study reveals promising therapeutic avenues for treating drug-resistant focal epilepsies with mTORC1-targeting molecules.

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)

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.

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.

Seizure-related injuries in children and adolescents with epilepsy.

Science.gov (United States)

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.

Update on causes of premature death in people with convulsive epilepsy in rural West China.

Science.gov (United States)

Si, Yang; Chen, Deng; Tian, Linyu; Mu, Jie; Chen, Tao; Liu, Ling; Deng, Ying; He, Jun; Li, You; He, Li; Zhou, Dong

2016-06-01

This longitudinal prospective study updated a previous report on premature mortality and focused on the risk factors among patients with convulsive epilepsy in resource-poor settings. The present cohort size (7,231) and follow-up (mean 33.4 months) were expanded. The basic epidemiologic aspects of this cohort were similar to the original report (case fatality: 3.26% vs. 2.97%, respectively; injury contributed more than half of the deaths). Cox regression analysis suggested that male patients, late ages of onset (>45 years old), short duration of epilepsy (2 per month) were independent risk factors for overall premature death. Male patients with late ages of onset and high seizure frequency had a higher risk of injury-specific death. This study emphasizes the preventable nature of injuries that are leading putative causes of death among people with convulsive epilepsy in rural West China. Education on specific populations and efficient seizure control are of paramount importance in reducing the risk of premature mortality. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

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

Science.gov (United States)

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

2016-01-01

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

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.

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....

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

DEFF Research Database (Denmark)

Schubert, J.; Siekierska, A.; Langlois, M.

2014-01-01

Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding...... syntaxin-1B(6), that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees(7,8) identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations...... and a de novo microdeletion encompassing STX1B were then identified in 449 familial or sporadic cases. Video and local field potential analyses of zebrafish larvae with antisense knockdown of stx1b showed seizure-like behavior and epileptiform discharges that were highly sensitive to increased temperature...

PREVALENCE OF CELIAC DISEASE IN CHILDREN WITH EPILEPSY

Directory of Open Access Journals (Sweden)

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

Directory of Open Access Journals (Sweden)

K. Yu. Mukhin

2015-01-01

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

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

Science.gov (United States)

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.

Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy.

Science.gov (United States)

Toledano, Rafael; Jiménez-Huete, Adolfo; Campo, Pablo; Poch, Claudia; García-Morales, Irene; Gómez Angulo, Juan Carlos; Coras, Roland; Blümcke, Ingmar; Álvarez-Linera, Juan; Gil-Nagel, Antonio

2016-05-01

Small temporal pole encephalocele (STPE) can be the pathologic substrate of epilepsy in a subgroup of patients with noninformative magnetic resonance imaging (MRI). Herein, we analyzed the clinical, neurophysiologic, and radiologic features of the epilepsy found in 22 patients with STPE, and the frequency of STPE in patients with refractory focal epilepsy (RFE). We performed an observational study of all patients with STPE identified at our epilepsy unit from January 2007 to December 2014. Cases were detected through a systematic search of our database of RFE patients evaluated for surgery, and a prospective collection of patients identified at the outpatient clinic. The RFE database was also employed to analyze the frequency of STPE among the different clinical subgroups. We identified 22 patients with STPE (11 women), including 12 (4.0%) of 303 patients from the RFE database, and 10 from the outpatient clinic. The median age was 51.5 years (range 29-75) and the median age at seizure onset was 38.5 years (range 15-73). Typically, 12 (80%) of 15 patients with left STPE reported seizures with impairment of language. Among the RFE cases, STPE were found in 9.6% of patients with temporal lobe epilepsy (TLE), and in 0.5% of those with extra-TLE (p = 0.0001). STPEs were more frequent in TLE patients with an initial MRI study reported as normal (23.3%) than in those with MRI-visible lesions (1.4%; p = 0.0002). Stereo-electroencephalography was performed in four patients, confirming the localization of the epileptogenic zone at the temporal pole with late participation of the hippocampus. Long-term seizure control was achieved in four of five operated patients. STPE can be a hidden cause of TLE in a subgroup of patients with an initial report of "normal" MRI. Early identification of this lesion may help to select patients for presurgical evaluation and tailored resection. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

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 ...

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.

Idiopathic pulmonary fibrosis. A rare cause of scintigraphic ventilation-perfusion mismatch

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Pochis, W.T.; Krasnow, A.Z.; Collier, B.D.; Mewissen, M.W.; Almagro, U.A.; Hellman, R.S.; Isitman, A.T.

1990-01-01

A case of idiopathic pulmonary fibrosis with multiple areas of mismatch on ventilation-perfusion lung imaging in the absence of pulmonary embolism is presented. Idiopathic pulmonary fibrosis is one of the few nonembolic diseases producing a pulmonary ventilation-perfusion mismatch. In this condition, chest radiographs may not detect the full extent of disease, and xenon-133 ventilation imaging may be relatively insensitive to morbid changes in small airways. Thus, when examining patients with idiopathic pulmonary fibrosis, one should be aware that abnormal perfusion imaging patterns without matching ventilation abnormalities are not always due to embolism. In this setting, contrast pulmonary angiography is often needed for accurate differential diagnosis

Idiopathic pulmonary fibrosis. A rare cause of scintigraphic ventilation-perfusion mismatch

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Pochis, W.T.; Krasnow, A.Z.; Collier, B.D.; Mewissen, M.W.; Almagro, U.A.; Hellman, R.S.; Isitman, A.T. (Medical College of Wisconsin, Milwaukee (USA))

1990-05-01

A case of idiopathic pulmonary fibrosis with multiple areas of mismatch on ventilation-perfusion lung imaging in the absence of pulmonary embolism is presented. Idiopathic pulmonary fibrosis is one of the few nonembolic diseases producing a pulmonary ventilation-perfusion mismatch. In this condition, chest radiographs may not detect the full extent of disease, and xenon-133 ventilation imaging may be relatively insensitive to morbid changes in small airways. Thus, when examining patients with idiopathic pulmonary fibrosis, one should be aware that abnormal perfusion imaging patterns without matching ventilation abnormalities are not always due to embolism. In this setting, contrast pulmonary angiography is often needed for accurate differential diagnosis.

Neurocysticercosis as an infectious acquired epilepsy worldwide.

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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.

LGI2 truncation causes a remitting focal epilepsy in dogs.

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Eija H Seppälä

2011-07-01

Full Text Available One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseases with onset during pruning, affecting 0.5% of 2-10-year-old children, and these epilepsies are often characterized by spontaneous remission. We previously described a remitting epilepsy in the Lagotto romagnolo canine breed. Here, we identify the gene defect and affected neurochemical pathway. We reconstructed a large Lagotto pedigree of around 34 affected animals. Using genome-wide association in 11 discordant sib-pairs from this pedigree, we mapped the disease locus to a 1.7 Mb region of homozygosity in chromosome 3 where we identified a protein-truncating mutation in the Lgi2 gene, a homologue of the human epilepsy gene LGI1. We show that LGI2, like LGI1, is neuronally secreted and acts on metalloproteinase-lacking members of the ADAM family of neuronal receptors, which function in synapse remodeling, and that LGI2 truncation, like LGI1 truncations, prevents secretion and ADAM interaction. The resulting epilepsy onsets at around seven weeks (equivalent to human two years, and remits by four months (human eight years, versus onset after age eight in the majority of human patients with LGI1 mutations. Finally, we show that Lgi2 is expressed highly in the immediate post-natal period until halfway through pruning, unlike Lgi1, which is expressed in the latter part of pruning and beyond. LGI2 acts at least in part through the same ADAM receptors as LGI1, but earlier, ensuring electrical stability (absence of epilepsy during pruning years, preceding this same function performed by LGI1 in later years. LGI2 should be considered a candidate gene for common remitting childhood epilepsies, and LGI2-to-LGI1 transition for mechanisms of childhood epilepsy remission.

Concurrence of myotonic dystrophy and epilepsy: a case report

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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

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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.

Atherosclerosis in epilepsy: its causes and implications.

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Hamed, Sherifa A

2014-12-01

Evidence from epidemiological, longitudinal, prospective, double-blinded clinical trials as well as case reports documents age-accelerated atherosclerosis with increased carotid artery intima media thickness (CA-IMT) in patients with epilepsy. These findings raise concern regarding their implications for age-accelerated cognitive and behavioral changes in midlife and risk of later age-related cognitive disorders including neurodegenerative processes such as Alzheimer's disease (AD). Chronic epilepsy, cerebral atherosclerosis, and age-related cognitive disorders including AD share many clinical manifestations (e.g. characteristic cognitive deficits), risk factors, and structural and pathological brain abnormalities. These shared risk factors include increased CA-IMT, hyperhomocysteinemia (HHcy), lipid abnormalities, weight gain and obesity, insulin resistance (IR), and high levels of inflammatory and oxidative stresses. The resulting brain structural and pathological abnormalities include decreased volume of the hippocampus, increased cortical thinning of the frontal lobe, ventricular expansion and increased white matter ischemic disease, total brain atrophy, and β-amyloid protein deposition in the brain. The knowledge that age-accelerated atherosclerosis may contribute to age-accelerated cognitive and behavioral abnormalities and structural brain pathologies in patients with chronic epilepsy represents an important research path to pursue future clinical and management considerations. Copyright © 2014 Elsevier Inc. All rights reserved.

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.

Localized bilateral perirenal fibrosis, a rare cause of idiopathic retroperitoneal fibrosis

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Maja Kveder

2014-08-01

Full Text Available Background: Idiopathic retroperitoneal fibrosis is an infrequent process of unknown aetiology characterised by fibrous tissue proliferation in the retroperitoneum. Even less frequent is a localized form of this disease by a proliferation of fibrous tissue around single or both kidneys.Case report: We describe a case of 46-year old man in whom medical management was started for accidentally discovered arterial hypertension, which turned out to be difficult to control.   During diagnostic work-up of hypertension, an abdominal ultrasound was obtained a year later demonstrating slight bilateral caliectasis without obvious visible cause for it. Laboratory exams have shown significantly impaired renal function, normocytic anaemia, slightly higher sedimentation rate, increased CRP and normal urinalysis. Nephrologist has decided for hospitalisation during which magnetic resonance imaging was performed  showing a few mm wide tissue coats surrounding both kidneys with fluid lying between the coat and kidney capsule. A biopsy of perirenal mass has confirmed a dense cellular lesion consisted of interweaved fascicles of spindle-shaped cells. After exclusion of tumours and other causes, a diagnosis of retroperitoneal fibrosis was confirmed. Clinical picture and laboratory data corresponded to idiopathic form of this disease. A treatment with tamoxifen was started after patient refused treatment with methylprednisolone. During tamoxifen monotherapy, there was gradual significant improvement of general symptoms, notable decline in inflammation markers, improvement of anaemia, normalisation of kidney function, and normalisation of blood pressure. Conclusion: Retroperitoneal fibrosis is still an obscure and multifaceted disease. A proper selection of diagnostic methods is the key to correct and fast diagnosis as well as good grounding for proper treatment.

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.

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

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

2016-12-01

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

Infections, inflammation and epilepsy

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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 caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model.

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Marine Douaud

Full Text Available Photosensitive reflex epilepsy is caused by the combination of an individual's enhanced sensitivity with relevant light stimuli, such as stroboscopic lights or video games. This is the most common reflex epilepsy in humans; it is characterized by the photoparoxysmal response, which is an abnormal electroencephalographic reaction, and seizures triggered by intermittent light stimulation. Here, by using genetic mapping, sequencing and functional analyses, we report that a mutation in the acceptor site of the second intron of SV2A (the gene encoding synaptic vesicle glycoprotein 2A is causing photosensitive reflex epilepsy in a unique vertebrate model, the Fepi chicken strain, a spontaneous model where the neurological disorder is inherited as an autosomal recessive mutation. This mutation causes an aberrant splicing event and significantly reduces the level of SV2A mRNA in homozygous carriers. Levetiracetam, a second generation antiepileptic drug, is known to bind SV2A, and SV2A knock-out mice develop seizures soon after birth and usually die within three weeks. The Fepi chicken survives to adulthood and responds to levetiracetam, suggesting that the low-level expression of SV2A in these animals is sufficient to allow survival, but does not protect against seizures. Thus, the Fepi chicken model shows that the role of the SV2A pathway in the brain is conserved between birds and mammals, in spite of a large phylogenetic distance. The Fepi model appears particularly useful for further studies of physiopathology of reflex epilepsy, in comparison with induced models of epilepsy in rodents. Consequently, SV2A is a very attractive candidate gene for analysis in the context of both mono- and polygenic generalized epilepsies in humans.

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.

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.

Epilepsy in tropics: Indian perspective

OpenAIRE

Shejoy P Joshua; Ashok Kumar Mahapatra

2013-01-01

Epilepsy is a common neurological disorder affecting 0.5-1% of the population in India. The causes and treatment protocols vary widely. A proper understanding of the causes and treatment strategies is essential for managing this patient group. This article analyzes the common causes of epilepsy in India and provides a brief summary on the available treatment strategies.

Epilepsy and vaccinations: Italian guidelines.

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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.

Aetiology of idiopathic granulomatous mastitis.

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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.

Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

International Nuclear Information System (INIS)

Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

1988-01-01

Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings. (orig.)

Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

Energy Technology Data Exchange (ETDEWEB)

Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

1988-01-01

Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings.

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 ...

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.

Epilepsy in tropics: Indian perspective

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Shejoy P Joshua

2013-01-01

Full Text Available Epilepsy is a common neurological disorder affecting 0.5-1% of the population in India. The causes and treatment protocols vary widely. A proper understanding of the causes and treatment strategies is essential for managing this patient group. This article analyzes the common causes of epilepsy in India and provides a brief summary on the available treatment strategies.

A Rare Cause of Acute Abdomen: Idiopathic Isolated Cecal Necrosis

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Ender Özer

2015-03-01

Full Text Available Idiopathic isolated cecal necrosis is a clinical problem characterized by right-sided inferior abdominal pain. It is rarely seen, develops due to decreased blood flow to the colon and, imitates acute appendicitis. Its clinical signs are similar to many illnesses causing sensitivity in the right inferior quadrant and, the diagnosis is generally determined during surgery. An 86-year-old male patient presented with the complaints of abdominal pain, trichiniasis, nausea and vomiting. Surgical intervention was decided when physical examination and laboratory results were taken into consideration. After diagnostic laparoscopy, right hemicolectomy was performed because of cecal necrosis. While the mortality and morbidity rates for ischemic bowel disease are high, prognosis for early diagnosed patients with isolated cecal necrosis is better, provided that timely surgical treatment is decided.

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.

Understanding Death in Children With Epilepsy.

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

2017-05-01

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

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

Everyday memory impairment in patients with temporal lobe epilepsy caused by hippocampal sclerosis.

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Rzezak, Patrícia; Lima, Ellen Marise; Gargaro, Ana Carolina; Coimbra, Erica; de Vincentiis, Silvia; Velasco, Tonicarlo Rodrigues; Leite, João Pereira; Busatto, Geraldo F; Valente, Kette D

2017-04-01

Patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS) have episodic memory impairment. Memory has rarely been evaluated using an ecologic measure, even though performance on these tests is more related to patients' memory complaints. We aimed to measure everyday memory of patients with TLE-HS to age- and gender-matched controls. We evaluated 31 patients with TLE-HS and 34 healthy controls, without epilepsy and psychiatric disorders, using the Rivermead Behavioral Memory Test (RBMT), Visual Reproduction (WMS-III) and Logical Memory (WMS-III). We evaluated the impact of clinical variables such as the age of onset, epilepsy duration, AED use, history of status epilepticus, and seizure frequency on everyday memory. Statistical analyses were performed using MANCOVA with years of education as a confounding factor. Patients showed worse performance than controls on traditional memory tests and in the overall score of RBMT. Patients had more difficulties to recall names, a hidden belonging, to deliver a message, object recognition, to remember a story full of details, a previously presented short route, and in time and space orientation. Clinical epilepsy variables were not associated with RBMT performance. Memory span and working memory were correlated with worse performance on RBMT. Patients with TLE-HS demonstrated deficits in everyday memory functions. A standard neuropsychological battery, designed to assess episodic memory, would not evaluate these impairments. Impairment in recalling names, routes, stories, messages, and space/time disorientation can adversely impact social adaptation, and we must consider these ecologic measures with greater attention in the neuropsychological evaluation of patients with memory complaints. Copyright © 2017 Elsevier Inc. All rights reserved.

[Sleep disorders in epilepsy].

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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.

Is idiopathic recurrent pancreatitis attributed to small stones?

OpenAIRE

Chow, Wai-Keung; Peng, Yen-Chun

2013-01-01

Idiopathic recurrent pancreatitis remains a clinical challenge. Intraductal ultrasonography in the management of idiopathic recurrent pancreatitis may be a new strategy for undetermined causes after initial diagnostic approaches, including endoscopic retrograde cholangio-pancreatography (ERCP). However, no definite cause after ERCP should be defined under optimal settings and with experienced technique.

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.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

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Lal, Dennis; Reinthaler, Eva M; Dejanovic, Borislav; May, Patrick; Thiele, Holger; Lehesjoki, Anna-Elina; Schwarz, Günter; Riesch, Erik; Ikram, M Arfan; van Duijn, Cornelia M; Uitterlinden, Andre G; Hofman, Albert; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Neophytou, Birgit; Zara, Federico; Hahn, Andreas; Gormley, Padhraig; Becker, Felicitas; Weber, Yvonne G; Cilio, Maria Roberta; Kunz, Wolfram S; Krause, Roland; Zimprich, Fritz; Lemke, Johannes R; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd A

2016-01-01

The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%). Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1) are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

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.

Epilepsy: Is there hope?

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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.

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.

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.

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

Suppressed without a Cause: A Case of Idiopathic Immune Deficiency.

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Ayub, Muhammad Talha; Jafar, Munnam S; Khalid, Muhammad; Baig, Muhammad A; Mba, Benjamin

2018-01-01

We report a case of a 45-year-old male who presented with a headache, fever, vomiting, somnolence, and difficulty walking for 10 days. His cerebrospinal fluid studies revealed cryptococcal meningitis. Chest and abdominal computed tomography (CT) scans showed splenomegaly along with mediastinal, retroperitoneal and inguinal lymphadenopathy. CD4 count turned out to be 208 μL -1 . Human immunodeficiency virus (HIV) testing, serum protein electrophoresis, serum light chains and quantitative immunoglobulins were non-diagnostic and CD4 lymphopenia was attributed to acute infection. However, a persistent CD4 lymphopenia was seen in subsequent outpatient testing, which prompted a detailed workup for secondary causes of immunodeficiency. Repeated lymph node biopsies with analytic cytometric immunophenotypic analysis were normal, as was the bone marrow biopsy with detailed immunophenotypic and cytogenetic studies. The patient was hence being treated as a case of idiopathic CD4 lymphocytopenia.

Pharmacogenomics in epilepsy.

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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.

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

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Puranam, Ram S; He, Xiao Ping; Yao, Lijun; Le, Tri; Jang, Wonjo; Rehder, Catherine W; Lewis, Darrell V; McNamara, James O

2015-06-10

We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na(+) channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic studies revealed expression of Fgf13 mRNA in both excitatory and inhibitory neurons of hippocampus. Electrophysiological recordings revealed decreased inhibitory and increased excitatory synaptic inputs in hippocampal neurons of Fgf13 mutants. We speculate that reduced expression of Fgf13 impairs excitability of inhibitory interneurons, resulting in enhanced excitability within local circuits of hippocampus and the clinical phenotype of epilepsy. These findings reveal a novel cause of this syndrome and underscore the powerful role of FGF13 in control of neuronal excitability. Copyright © 2015 the authors 0270-6474/15/358866-16$15.00/0.

Imaging in epilepsy

International Nuclear Information System (INIS)

Gupta, Arun Kumar; Sharma, Raju; Sarma, Dipanka

2000-01-01

Epilepsy is a common problem in the paediatric age group. Imaging plays a vital role in identifying the seizure focus. Cross-sectional imaging modalities like CT and MRI have had a major impact on the management of seizure disorders. MRI, because of its high contrast resolution and multiplanar capability is the ideal imaging modality but its use is restricted due to high cost. Computed tomography is cheaper and is the first, and often, the only modality used, especially in the under privileged areas of the world. In the tropical countries inflammatory granuloma are a common cause of epilepsy and CT is adequate to detect these lesions. Other causes include congenital abnormalities, neoplastic and vascular causes. (author)

[Current management of epilepsy].

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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.

Recent advances in epilepsy genetics.

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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.

Pathology of idiopathic non-cirrhotic portal hypertension.

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Guido, Maria; Sarcognato, Samantha; Sacchi, Diana; Colloredo, Guido

2018-04-12

Idiopathic non-cirrhotic portal hypertension is an under-recognized vascular liver disease of unknown etiology, characterized by clinical signs of portal hypertension in the absence of cirrhosis. By definition, any disorder known to cause portal hypertension in the absence of cirrhosis and any cause of chronic liver disease must be excluded to make a diagnosis of idiopathic non-cirrhotic portal hypertension. However, the diagnosis is often difficult because the disease resembles cirrhosis and there is no gold standard test. Liver biopsy is an essential tool: it is able to exclude cirrhosis and other causes of portal hypertension and it allows the identification of the characteristic lesions. Nonetheless, the histological diagnosis of idiopathic non-cirrhotic portal hypertension is not always straightforward, in particular by needle biopsy samples, because there is no pathognomonic lesion, but rather a variety of vascular changes which are unevenly distributed, very subtle, and not all necessarily identified in a single specimen. Pathologists should be able to recognize several patterns of injury, involving portal/periportal areas as well as parenchymal structures.The histological features of idiopathic non-cirrhotic portal hypertension are described in this review, focusing on their interpretation in needle biopsy specimens.

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

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

2013-08-01

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

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.

Epilepsy

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

Genetic Causal Attribution of Epilepsy and its Implications for Felt Stigma

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

2015-01-01

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

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

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Jähn, Johanna; Caliebe, Almuth; von Spiczak, Sarah; Boor, Rainer; Stefanova, Irina; Stephani, Ulrich; Helbig, Ingo; Muhle, Hiltrud

2013-07-01

CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting with focal seizures in the first 3 months of life, evolving to epileptic spasms between the ages of 2 and 6 years and later on to tonic seizures. In 3 patients, epilepsy was resistant to antiepileptic therapy. Although there was no common EEG pattern in all patients, late hypsarrhythmia until the age of 9 years was observed in 2 patients. CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

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Dennis Lal

Full Text Available The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic.We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients.We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%. Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1 are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test, previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

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.

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

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

2016-04-01

Epilepsy represents the third most common neurological disorders in the elderly after cerebrovascular disorders and dementias. The incidence of new-onset epilepsy peaks in this age group. The most peculiar aetiologies of late-onset epilepsy are stroke, dementia, and brain tumours. However, aetiology remains unknown in about half of the patients. Diagnosis of epilepsy may be challenging due to the frequent absence of ocular witnesses and the high prevalence of seizure-mimics (i.e. transient ischemic attacks, syncope, transient global amnesia or vertigo) in the elderly. The diagnostic difficulties are even greater when patients have cognitive impairment or cardiac diseases. The management of late-onset epilepsy deserves special considerations. The elderly can reach seizure control with low antiepileptic drugs (AEDs) doses, and seizure-freedom is possible in the vast majority of patients. Pharmacological management should take into account pharmacokinetics and pharmacodynamics of AEDs and the frequent occurrence of comorbidities and polytherapy in this age group. Evidences from double-blind and open-label studies indicate lamotrigine, levetiracetam and controlled-release carbamazepine as first line treatment in late-onset epilepsy. Copyright © 2016 Elsevier Ltd. All rights reserved.

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.

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Delahanty, Ryan J; Zhang, Yanfeng; Bichell, Terry Jo; Shen, Wangzhen; Verdier, Kelienne; Macdonald, Robert L; Xu, Lili; Boyd, Kelli; Williams, Janice; Kang, Jing-Qiong

2016-12-20

Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atrophied melanosomes, as evidenced by electron microscopy. Using exome and RNA sequencing, we confirmed that only the Gabrb3 gene was disrupted while the Oca2 gene was intact. However, mRNA abundance of Oca2 and other genes adjacent to Gabrb3 is substantially reduced in Gabrb3 -/- mice, suggesting complex transcriptional regulation in this region. These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in AS and PWS. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Metal toxicity- a possible cause of idiopathic pulmonary fibrosis

International Nuclear Information System (INIS)

Javed, M.S.; Gilani, R.

2011-01-01

Idiopathic pulmonary fibrosis is a fatal disease of unknown etiology. Attempts are being made in the world to understand the disease mechanism by knowing its causes. Present research is a part to that contribution. Concentrations of some toxic metals were estimated in the blood and lung tissues of the persons diagnosed to be the subject of idiopathic pulmonary fibrosis. IPF subjects were selected for this purpose which was admitted in different hospitals in Lahore. Blood samples were taken directly from the patients whereas lung tissue samples were collected from the relevant biopsy labs. Three control blood samples were also collected from healthy persons. The samples were digested with Conc. HNO/sub 3/ to make their solutions for the estimation of metals. The metals selected were Cu, Pb, Cd, Cr, Be, Zn, Al, As and Co. Atomic Absorption Spectrophotometer (AAS) was used to estimate the metal concentrations in the sample solutions. The mean values of the concentrations (ppm) of these metals in the blood samples were Cu (0.65), Pb(0.69), Cd(1.17), Cr(0.21), Be(0.67), Zn(6.31), Al(1.33), As(0.46) and Co(0.46). The mean values of the concentrations (ppm) of these metals in the lung tissue samples were Cu (1.57), Pb(1.01), Cd(1.70), Cr(0.46), Be(2.02), Zn(10.20), Al(1.68), As(0.83) and Co(0.65). The concentrations of these metals were also estimated in the blood samples of control healthy persons and compared with the subjects. The difference of concentrations (ppm) in the blood samples of IPF subjects and Control Maximum (Mean Subjects - Control Max.) were Cu (0.50), Pb(0.62), Cd(1.17), Cr(0.21), Be(0.56), Zn(5.06), Al(1.31), As(0.46) and Co(0.46). Comparison of the mean values of concentrations of metals in blood samples of IPF subjects with the maximum concentration of metals in the blood samples of control healthy persons shows that metals levels are higher in the subjects than the control ones. i.e. Cu(76.92%), Pb(89.6%), Cd(100%), Cr(100%), Be(83.58%), Zn(80

Etiologies of epilepsy and health-seeking itinerary of patients with epilepsy in a resource poor setting: analysis of 342 Nigerian Africans.

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Ogunrin, Olubunmi A; Adeyekun, Ademola; Adudu, Philomena

2013-09-01

The understanding of causation of epilepsy, especially in resource poor African countries where prevalence rates are very high, would aid strategies for primary prevention. This study sought to determine the causes of epilepsy in Nigerian Africans and health-itinerary of patients with epilepsy. This was an observational, cross-sectional descriptive study of consecutive newly diagnosed adult patients with epilepsy using a mixed-methods approach of face-to-face in-depth interview of patients' parents and relations, health care personnel who had given medical attention at any time and telephone interview. A structured interview schedule was used to obtain demographic information, details of seizure variables, health seeking itinerary and history of previous hospitalizations. Data was analyzed descriptively with SPSS version 17. Three hundred and forty-two patients with epilepsy with a mean age of 31.4±11.98 years participated in the study. Most of the patients (68.1%; 233/342) were unemployed and students. There were 270 (78.9%) patients with generalized epilepsy. No identifiable etiology was found in 37.7%, but of the remaining 62.3%, the commonest causes included post traumatic (19.6%), recurrent childhood febrile convulsions (13.2%), post-stroke (6.7%), brain tumors (5.9%), neonatal jaundice (5.3%), birth-related asphyxia (5%) and history of previous CNS infections (4.7%). Family history of epilepsy was obtained in 9.9%, all of whom had primarily generalized seizures. 61.4% of them sought initial attention from the traditional healers or in prayer houses. This study showed the pattern of causes of epilepsy in Nigerian Africans. The health seeking behavior and itinerary of the PWE revealed a preference for traditional healers. There is need for health policies and epilepsy awareness campaigns to prevent causes of seizures and improve the knowledge of the public respectively. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights

Epilepsy and Comorbid Mental Retardation

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J Gordon Millichap

2007-08-01

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

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.

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.

Premature mortality of epilepsy in low- and middle-income countries: A systematic review from the Mortality Task Force of the International League Against Epilepsy.

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Levira, Francis; Thurman, David J; Sander, Josemir W; Hauser, W Allen; Hesdorffer, Dale C; Masanja, Honorati; Odermatt, Peter; Logroscino, Giancarlo; Newton, Charles R

2017-01-01

To determine the magnitude of risk factors and causes of premature mortality associated with epilepsy in low- and middle-income countries (LMICs). We conducted a systematic search of the literature reporting mortality and epilepsy in the World Bank-defined LMICs. We assessed the quality of the studies based on representativeness; ascertainment of cases, diagnosis, and mortality; and extracted data on standardized mortality ratios (SMRs) and mortality rates in people with epilepsy. We examined risk factors and causes of death. The annual mortality rate was estimated at 19.8 (range 9.7-45.1) deaths per 1,000 people with epilepsy with a weighted median SMR of 2.6 (range 1.3-7.2) among higher-quality population-based studies. Clinical cohort studies yielded 7.1 (range 1.6-25.1) deaths per 1,000 people. The weighted median SMRs were 5.0 in male and 4.5 in female patients; relatively higher SMRs within studies were measured in children and adolescents, those with symptomatic epilepsies, and those reporting less adherence to treatment. The main causes of death in people with epilepsy living in LMICs include those directly attributable to epilepsy, which yield a mean proportional mortality ratio (PMR) of 27.3% (range 5-75.5%) derived from population-based studies. These direct causes comprise status epilepticus, with reported PMRs ranging from 5 to 56.6%, and sudden unexpected death in epilepsy (SUDEP), with reported PMRs ranging from 1 to 18.9%. Important causes of mortality indirectly related to epilepsy include drowning, head injury, and burns. Epilepsy in LMICs has a significantly greater premature mortality, as in high-income countries, but in LMICs the excess mortality is more likely to be associated with causes attributable to lack of access to medical facilities such as status epilepticus, and preventable causes such as drowning, head injuries, and burns. This excess premature mortality could be substantially reduced with education about the risk of death and

Temporal Lobe Epilepsy Surgery Failures: A Review

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Harroud, Adil; Bouthillier, Alain; Weil, Alexander G.; Nguyen, Dang Khoa

2012-01-01

Patients with temporal lobe epilepsy (TLE) are refractory to antiepileptic drugs in about 30% of cases. Surgical treatment has been shown to be beneficial for the selected patients but fails to provide a seizure-free outcome in 20–30% of TLE patients. Several reasons have been identified to explain these surgical failures. This paper will address the five most common causes of TLE surgery failure (a) insufficient resection of epileptogenic mesial temporal structures, (b) relapse on the contralateral mesial temporal lobe, (c) lateral temporal neocortical epilepsy, (d) coexistence of mesial temporal sclerosis and a neocortical lesion (dual pathology); and (e) extratemporal lobe epilepsy mimicking TLE or temporal plus epilepsy. Persistence of epileptogenic mesial structures in the posterior temporal region and failure to distinguish mesial and lateral temporal epilepsy are possible causes of seizure persistence after TLE surgery. In cases of dual pathology, failure to identify a subtle mesial temporal sclerosis or regions of cortical microdysgenesis is a likely explanation for some surgical failures. Extratemporal epilepsy syndromes masquerading as or coexistent with TLE result in incomplete resection of the epileptogenic zone and seizure relapse after surgery. In particular, the insula may be an important cause of surgical failure in patients with TLE. PMID:22934162

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

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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.

Clinical neurogenetics: recent advances in the genetics of epilepsy.

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Coorg, Rohini; Weisenberg, Judith L Z; Wong, Michael

2013-11-01

Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well as non-genetic causes. As more causative genes are identified, genetic testing is becoming increasingly important in the evaluation and management of epilepsy. This article outlines the clinical approach to epilepsy patients, with emphasis on genetic testing. Specific targeted tests are available for numerous individual genetic causes of epilepsy. Broader screening tests, such as chromosome microarray analysis and whole exome sequencing, have also been developed. As a standardized protocol for genetic testing has not been established, individualized diagnostic approaches to epilepsy patients should be used. Copyright © 2013 Elsevier Inc. All rights reserved.

Idiopathic ventricular tachycardia and fibrillation.

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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.

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)

Idiopathic scoliosis; a biomechanical and functional anatomical study.

NARCIS (Netherlands)

Veldhuizen, Albert Gerrit

1985-01-01

Although many types of causes of scoliosis are known, the idiopathic variety comprises the largest group and as its name indicates, its a etiology is unknown. Idiopathics coliosis develops in a previously normal vertebral column and has been recognized as an entity for more than a century.

Epilepsy and radiological investigations

International Nuclear Information System (INIS)

Tomberg, T.

2005-01-01

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

PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

Directory of Open Access Journals (Sweden)

A. Nickavar

2006-09-01

Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

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

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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.

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

Directory of Open Access Journals (Sweden)

Ana Filipa Lopes

2014-01-01

Full Text Available Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE, childhood absence epilepsy (CAE, and benign epilepsy with centrotemporal spikes (BECTS and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children, aged 6–15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.

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

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

2014-02-01

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

Epilepsy and risk of death and sudden unexpected death in the young

DEFF Research Database (Denmark)

Holst, Anders Gaarsdal; Winkel, Bo Gregers; Risgaard, Bjarke

2013-01-01

Patients with epilepsy are at increased risk of premature death from all causes and likely also from sudden unexplained death (SUD). Many patients with epilepsy have significant comorbidity, and it is unclear how much of the increased risk can be explained by epilepsy itself. We aimed to chart...... the incidence of sudden unexpected death in epilepsy (SUDEP) and estimate the risk of death from all causes and SUD conferred by epilepsy independently....

The burden of premature mortality of epilepsy in high-income countries: A systematic review from the Mortality Task Force of the International League Against Epilepsy.

Science.gov (United States)

Thurman, David J; Logroscino, Giancarlo; Beghi, Ettore; Hauser, W Allen; Hesdorffer, Dale C; Newton, Charles R; Scorza, Fulvio Alexandre; Sander, Josemir W; Tomson, Torbjörn

2017-01-01

Since previous reviews of epidemiologic studies of premature mortality among people with epilepsy were completed several years ago, a large body of new evidence about this subject has been published. We aim to update prior reviews of mortality in epilepsy and to reevaluate and quantify the risks, potential risk factors, and causes of these deaths. We systematically searched the Medline and Embase databases to identify published reports describing mortality risks in cohorts and populations of people with epilepsy. We reviewed relevant reports and applied criteria to identify those studies likely to accurately quantify these risks in representative populations. From these we extracted and summarized the reported data. All population-based studies reported an increased risk of premature mortality among people with epilepsy compared to general populations. Standard mortality ratios are especially high among people with epilepsy aged <50 years, among those whose epilepsy is categorized as structural/metabolic, those whose seizures do not fully remit under treatment, and those with convulsive seizures. Among deaths directly attributable to epilepsy or seizures, important immediate causes include sudden unexpected death in epilepsy (SUDEP), status epilepticus, unintentional injuries, and suicide. Epilepsy-associated premature mortality imposes a significant public health burden, and many of the specific causes of death are potentially preventable. These require increased attention from healthcare providers, researchers, and public health professionals. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

NARCIS (Netherlands)

Kasperavičiūtė, Dalia; Catarino, Claudia B.; Chinthapalli, Krishna; Clayton, Lisa M. S.; Thom, Maria; Martinian, Lillian; Cohen, Hannah; Adalat, Shazia; Bockenhauer, Detlef; Pope, Simon A.; Lench, Nicholas; Koltzenburg, Martin; Duncan, John S.; Hammond, Peter; Hennekam, Raoul C. M.; Land, John M.; Sisodiya, Sanjay M.

2011-01-01

Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained. We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic

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.)

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 ...

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

NARCIS (Netherlands)

van de Pol, L.A.; Wolf, N.I.; van Weissenbruch, M.M.; Stam, C.J.; Weiss, M.M.; Waisfisz, Q.; Kevelam, S.H.; Bugiani, M.; van de Kamp, J.M.; Knaap, M.

2015-01-01

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

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

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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.

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

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.

Directory of Open Access Journals (Sweden)

Dalia Kasperavičiūtė

Full Text Available Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients.Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.

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

Science.gov (United States)

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…

Idiopathic gastric perforation in an asplenic infant | Olsen | African ...

African Journals Online (AJOL)

Introduction: The cause of idiopathic gastric perforations in neonates remains unknown. Perforations of the abdominal oesophagus, stomach and duodenum in infants and children are the rarest type of intestinal perforations. There are 21 reported cases of an idiopathic gastric rupture in nonneonates. Case Report: A ...

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.

Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

Science.gov (United States)

... myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... boxes. Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

Sigmoid Sinus Diverticulum, Dehiscence, and Venous Sinus Stenosis: Potential Causes of Pulsatile Tinnitus in Patients with Idiopathic Intracranial Hypertension?

Science.gov (United States)

Lansley, J A; Tucker, W; Eriksen, M R; Riordan-Eva, P; Connor, S E J

2017-09-01

Pulsatile tinnitus is experienced by most patients with idiopathic intracranial hypertension. The pathophysiology remains uncertain; however, transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence have been proposed as potential etiologies. We aimed to determine whether the prevalence of transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence was increased in patients with idiopathic intracranial hypertension and pulsatile tinnitus relative to those without pulsatile tinnitus and a control group. CT vascular studies of patients with idiopathic intracranial hypertension with pulsatile tinnitus ( n = 42), without pulsatile tinnitus ( n = 37), and controls ( n = 75) were independently reviewed for the presence of severe transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence according to published criteria. The prevalence of transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence in patients with idiopathic intracranial hypertension with pulsatile tinnitus was compared with that in the nonpulsatile tinnitus idiopathic intracranial hypertension group and the control group. Further comparisons included differing degrees of transverse sinus stenosis (50% and 75%), laterality of transverse sinus stenosis/sigmoid sinus diverticulum/dehiscence, and ipsilateral transverse sinus stenosis combined with sigmoid sinus diverticulum/dehiscence. Severe bilateral transverse sinus stenoses were more frequent in patients with idiopathic intracranial hypertension than in controls ( P tinnitus within the idiopathic intracranial hypertension group. Sigmoid sinus dehiscence (right- or left-sided) was also more common in patients with idiopathic intracranial hypertension compared with controls ( P = .01), but there was no significant association with pulsatile tinnitus within the idiopathic intracranial hypertension group. While our data corroborate previous studies demonstrating increased prevalence of sigmoid sinus diverticulum

Autoimmune encephalitis: A potentially reversible cause of status epilepticus, epilepsy, and cognitive decline

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Awadh Kishor Pandit

2013-01-01

Full Text Available Objectives: To review clinical characteristics and response to immunomodulation therapy in autoimmune encephalitis presenting with status epilepticus (SE, epilepsy, and cognitive decline. Design: Observational, prospective case series. Setting: All India Institute of Medical Sciences, New Delhi, India. Materials and Methods: Prospective analysis of 15 patients, who presented with SE, epilepsy, cognitive decline, and other neurological symptoms with positive autoantibodies. Demographic and clinical characteristics were recorded. Brain magnetic resonance imaging (MRI, cerebrospinal-fluid analysis (CSF, and tumor screening were done periodically. Treatment received and responses (categorized as per patients and treating doctor′s information were noted. Results: There were 15 (males = 10 patients of autoimmune encephalitis. The mean age of presentation was 24 years (range: 2-64 years. The most common onset was subacute (64% and four (29% patients presented as SE. Predominant clinical presentations were seizures (100% almost of every semiology. CSF was done in 10 patients; it was normal in 60%. Brain MRI was done in all patients, in six (40% it was normal, six (40% showed T2W and FLAIR hyperintensities in bilateral limbic areas. Antibodies found were the N-methyl-D-aspartate receptor antibody in seven (50%, voltage-gated potassium channel antibody in five (36%, two of antiglutamic acid decarboxylase, and one patient with double stranded DNA (dsDNA antibodies. None showed evidence of malignancy. Patients received immunotherapy, either steroids, intravenous immunoglobulin, or both. Follow-up showed significant improvement in majority of cases, neither further seizures nor relapse in nine (67% cases. One death occurred, due to delayed presentation. Conclusions: Uncommon but potentially reversible causes of SE, epilepsy, and cognitive decline may be immune-related and high index of suspicion will prevent missing the diagnosis.

Basic knowledge of epilepsy among medical students.

Science.gov (United States)

Tiamkao, Siriporn; Tiamkao, Somsak; Auevitchayapat, Narong; Arunpongpaisal, Suwanna; Chaiyakum, Aporanee; Jitpimolmard, Suthipun; Phuttharak, Warinthorn; Phunikhom, Kutcharin; Saengsuwan M, Jiamjit; Vannaprasaht, Suda

2007-11-01

The medical students' knowledge about basic medical neuroscience in the preclinical level may be fragmented and incomplete. Evaluate the knowledge of students prior to a lecture on epilepsy in clinical level. One hundred ten fourth-year medical students' knowledge was accessed by a self-administered questionnaire. The presented results revealed that 91.8% of respondents knew that epilepsy arose from a transient dysfunction in the brain. Generalized tonic-clonic seizures (GTCs) were the most common type (91.5%) they knew and absence seizures were the least common type (33.6%) they knew. All of them knew that eating pork and punishment of gods did not cause epilepsy. However 50% thought that genetics was a cause and 80.3% did not know that stroke and sleep deprivation (92.7%) cause epilepsy. About treatment and prognosis, only 28.2% of respondents thought epilepsy can be cured and patients should take antiepileptic drugs (AEDs) for seizure free 2-5 years (48.2%), life long (33.6%). They knew that the patients should be prohibited from driving (80%), working on machinery (74.5%), and (27.3%) avoid drinking. However, they knew that the patients could marry (100%), get pregnant (98.2%), and lactate (91.9%). Regarding the first aid management, 50.9% of them recommended that placing a piece of wood between the teeth during a seizure and perform chest compressions (20.0%). Means knowledge scores is about 60%, the highest score is the definition of epilepsy (90.2%) and the lowest is type of seizure (43%). The findings indicated that lecturers should review aspects ofpathophysiology and emphasize on type of seizure, cause, consequences, and prognosis including first-aid management.

Idiopathic scrotal elephantiasis.

Science.gov (United States)

Hornberger, Brad J; Elmore, James M; Roehrborn, Claus G

2005-02-01

Scrotal lymphedema (scrotal elephantiasis) is a condition that has historically been described in areas endemic to filariasis. We present a unique case of a 22-year-old man with idiopathic lymphedema isolated to the scrotum. After acquired causes of lymphedema were ruled out, the patient was treated with scrotectomy and scrotal reconstruction.

EPILEPSY IN ELDERLY PATIENTS (DIAGNOSTIC FEATURES

Directory of Open Access Journals (Sweden)

S. A. Gulyaev

2014-01-01

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

EPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONS

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K. Yu. Mukhin

2016-01-01

Full Text Available Mutation in the PCDH19 gene was first described by L.M. Dibbens et al. in 2008. Mutations in this gene are associated with epilepsy and mental retardation limited to females. The clinical manifestations that are observed in some patients with PCDH19 mutation and Dravet syndrome that is caused by mutation in the SCN1A gene include the onset of febrile and afebrile seizures in infancy, serial seizures during fever, and regression in development after the onset of seizures. Due to the fact that the two diseases have common clinical signs, it is best to test for PCDH19 mutation in patients with the clinical picture of Dravet syndrome and a negative test for SCN1A. In general, the number of scientific papers devoted to analysis and recommendations for the choice of therapy in patients with rare genetic pathology is small now. We analyzed the specific features of clinical signs and therapy in our two observed female patients aged 4 and 11 years with verified PCDH19 mutation. Both patients were noted to have severe epilepsy with febrile convulsions with the development of status epilepticus and to be unresponsive to antiepileptic therapy. The use of different antiepileptic drugs (valproate, oxcarbazepine, phenobarbital, topiramate, levetiracetam at different combinations failed to control the course of epilepsy in the 4-year-old patient whereas the 11-year-old patient who took a combination of valproic acid and benzodiazepines achieved a positive effect.

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

DEFF Research Database (Denmark)

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

2014-01-01

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

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.

Readmission Following Surgical Resection for Intractable Epilepsy: Nationwide Rates, Causes, Predictors, and Outcomes.

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Rumalla, Kavelin; Smith, Kyle A; Arnold, Paul M; Schwartz, Theodore H

2018-06-04

Hospital readmissions can be detrimental to patients and may interfere with the potential benefits of the therapeutic procedure. Government agencies have begun to focus on reducing readmissions; however, the etiology of readmissions is lacking. To report the national rates, risk factors, and outcomes associated with 30- and 90-d readmissions following surgery for intractable epilepsy. We queried the Nationwide Readmissions Database from January to September 2013 using International Classification of Diseases, Ninth Edition, Clinical Modification codes to identify all patients with intractable epilepsy, who underwent hemispherectomy (01.52), brain lobectomy (01.53), amydalohippocampectomy, or partial lobectomy (01.59). Predictor variables included epilepsy type, presurgical diagnostic testing, surgery type, medical complications, surgical complications, and discharge disposition. In 1587 patients, the 30- and 90-d readmission rates were 11.5% and 16.8%, respectively. The most common reasons for readmission were persistent epilepsy, video electroencephalography monitoring, postoperative infection, and postoperative central nervous system complication. In multivariable analysis, risk factors associated with both 30- and 90-d readmission were Medicare payer status, lowest quartile of median income, depression, hemispherectomy, and postoperative complications (P < .05). The only unique predictor of 30-d readmission was small bedsize hospital (P = .001). Readmissions within 30 d were associated with longer length of stay (6.8 vs 5.8 d), greater costs ($18 660 vs $15 515), and increased adverse discharges (26.4% vs 21.8%). Following epilepsy surgery, most readmissions that occurred within 30 d can be attributed to management of persistent epilepsy and predicted by Medicare payer status, depression, and complications. These data can assist the clinician in preventing readmissions and assist policy makers determine which admissions are potentially avoidable.

[Sleep disorders and epilepsy].

Science.gov (United States)

Aoki, Ryo; Ito, Hiroshi

2014-05-01

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

Progressive myoclonic epilepsies

Science.gov (United States)

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

2014-01-01

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

A CASE OF IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION IN MALE

OpenAIRE

Poongavanam Paranthaman; Ramani Bala Subra Manian; Thenrajan Balaji; Jayakrishnan Jayakumar; Govindaraj Ranjani

2016-01-01

Primary Pulmonary Hypertension is a rare disease occurring in 1-2 per million population. It is 2-4 times more common in female. Idiopathic or primary pulmonary hypertension is defined as a disorder with no identifiable cause in which resting mean pulmonary artery pressure in adults is above 25 mmHg and 30 mmHg with exercise. Idiopathic or primary pulmonary hypertension is diagnosed after ruling out all the possible secondary causes of pulmonary hypertension. We are presenting a ...

Public awareness and attitudes towards epilepsy in Tehran, Iran.

Science.gov (United States)

Ghanean, Helia; Nojomi, Marzieh; Jacobsson, Lars

2013-12-05

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

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.

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

Science.gov (United States)

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

Epilepsy and Persian culture: an overview.

Science.gov (United States)

Vanzan, A; Paladin, F

1992-01-01

This article reviews the manner in which Persian culture viewed the problem of epilepsy. Beginning with the Avesta, the earliest Persian text on health and sickness, the medical literature on treatments of epilepsy common in Iran are reviewed. The article also explores popular Persian concepts that try to explain the causes of the morbus sacer.

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 in the Elderly

Directory of Open Access Journals (Sweden)

Lu-An Chen

2012-06-01

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

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

Science.gov (United States)

Coci, Emanuele G; Codutti, Luca; Fink, Christian; Bartsch, Sophie; Grüning, Gunnar; Lücke, Thomas; Kurth, Ingo; Riedel, Joachim

2017-04-01

Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ 1 -piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine. Individuals affected by ALDH7A1 deficiency show pre-natal and post-natal seizures, which respond to oral pyridoxine but not to other pediatric anti-epileptic drugs. We discovered a novel missense mutation (c.566G > A, p.Gly189Glu) in homozygous state residing in the NAD+ binding domain coding region of exon 6 and affecting an highly conserved amino acid residue. The seizures stopped under post-natal pyridoxine therapy, nevertheless a longer follow-up is needed to evaluate the intellectual development of the child, who is additionally treated with oral l-arginine since the 13th month of life. Developmental delay with or without structural cortex abnormalities were reported in several patients. A brain MRI scan revealed hyperintense white matter in the right cerebellum compatible with cerebellar gliosis. Taken together, our studies enlarge the group of missense pathogenic mutations of ALDH7A1 gene and reveal a novel cerebellar finding within the PDE patients cohort. Copyright © 2016 Elsevier Ltd. All rights reserved.

Clinical analysis of 34 cases symptomatic epilepsy secondary to cerebrovascular disease

International Nuclear Information System (INIS)

Zeng Mingyu; Liu Chunfeng

2000-01-01

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

Mortality in children with severe epilepsy: 10 years of follow-up

Directory of Open Access Journals (Sweden)

Vera C. Terra

2011-10-01

Full Text Available Epilepsy is the main neurological condition in children and adolescents. Unfortunately patients with medical refractory epilepsy are more susceptible for clinical complications and death. We report a prospectively evaluated cohort of children followed for approximately 10 years. Fifty-three of 1012 patients died. Forty-two patients died due to epilepsy or its clinical complications and the main causes of death were pneumonia (in 16 cases, sepses (in 9 patients, status epilepticus (in 8 patients. In 11 patients cause of death was sudden unexpected death in epilepsy (SUDEP. Mental retardation was significantly more frequent in patients who did not die from SUDEP. SUDEP may be a significant condition associated with mortality in children and adolescents with epilepsy.

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.

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

Directory of Open Access Journals (Sweden)

Vanessa Lin Lin Lee

2018-03-01

Full Text Available Metabolic epilepsy is a metabolic abnormality which is associated with an increased risk of epilepsy development in affected individuals. Commonly used antiepileptic drugs are typically ineffective against metabolic epilepsy as they do not address its root cause. Presently, there is no review available which summarizes all the treatment options for metabolic epilepsy. Thus, we systematically reviewed literature which reported on the treatment, therapy and management of metabolic epilepsy from four databases, namely PubMed, Springer, Scopus and ScienceDirect. After applying our inclusion and exclusion criteria as per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA guidelines, we reviewed a total of 43 articles. Based on the reviewed articles, we summarized the methods used for the treatment, therapy and management of metabolic epilepsy. These methods were tailored to address the root causes of the metabolic disturbances rather than targeting the epilepsy phenotype alone. Diet modification and dietary supplementation, alone or in combination with antiepileptic drugs, are used in tackling the different types of metabolic epilepsy. Identification, treatment, therapy and management of the underlying metabolic derangements can improve behavior, cognitive function and reduce seizure frequency and/or severity in patients.

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

Directory of Open Access Journals (Sweden)

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

Science.gov (United States)

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

Dendritic ion channelopathy in acquired epilepsy

Science.gov (United States)

Poolos, Nicholas P.; Johnston, Daniel

2012-01-01

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

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

Science.gov (United States)

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.

Idiopathic massive fetomaternal hemorrhage in the third trimester of pregnancy causing neonatal death.

Science.gov (United States)

Peng, X; Liu, C; Peng, B

2016-01-01

Fetomaternal hemorrhage (FMH), which can occur throughout pregnancy, is still a poorly understood clinical condition. It is very difficult to be timely diagnosed and often results in poor pregnancy outcomes. Here the authors reported two rare cases of silent massive FMH of unknown cause in the third trimester of pregnancy, which presented with non-reactive fetal heart rhythm or decreased fetal movement at the very beginning, and resulted in severe fetal anemia and neonatal deaths. A pregnant woman at late pregnancy with a com- plain of unspecific signs such as decreased fetal movement should arouse a high index of clinical suspicion of idiopathic FMH, and an urgent ultrasound or lab tests detecting FMH could be suggested. Considering emergent delivery versus expectantly management will de- pend upon acute or chronic FMH, gestational age, results of fetal testing, availability of experienced personnel, and procedural difficulty.

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

DEFF Research Database (Denmark)

Berryer, Martin H; Hamdan, Fadi F; Klitten, Laura L

2013-01-01

De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID...... also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical...

Epilepsy Awareness (A Minute of Health with CDC)

Centers for Disease Control (CDC) Podcasts

2013-11-07

Epilepsy is a brain disorder characterized by recurrent seizures. This podcast discusses known causes of epilepsy and how to decrease the risk of developing it.  Created: 11/7/2013 by MMWR.   Date Released: 11/7/2013.

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

Science.gov (United States)

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

Human upright spinopelvic alignment and the etio-pathogenesis of idiopathic scoliosis

NARCIS (Netherlands)

Janssen, M.M.A.

2011-01-01

Idiopathic scoliosis is a classic and intriguing orthopedic disorder in which the spine, usually during the pubertal growth spurt, collapses into a three-dimensional deformity without any known cause. Despite many anatomical similarities between the human spine and other spines in nature, idiopathic

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...

Idiopathic central diabetes Insipidus.

Science.gov (United States)

Grace, Mary; Balachandran, Venu; Menon, Sooraj

2011-10-01

Idiopathic central diabetes insipidus (CDI) is a rare disorder characterized clinically by polyuria and polydipsia, and an abnormal urinary concentration without any identified etiology. We report a case of central diabetes insipidus in a 60-year-old lady in the absence of secondary causes like trauma, infection, and infiltrative disorders of brain.

Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

DEFF Research Database (Denmark)

Andersen, Michelle Fog; Bygum, Anette

2015-01-01

however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...

[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.

Giant scrotal elephantiasis: an idiopathic case.

Science.gov (United States)

Dianzani, C; Gaspardini, F; Persichetti, P; Brunetti, B; Pizzuti, A; Margiotti, K; Degener, A M

2010-01-01

Scrotal elephantiasis is very rare disease in industrialized countries, where it is mainly due to surgery, irradiation or malignancies. It can be defined as idiopathic only when the possible congenital, infectious and compressive causes are excluded. We report a case of massive scrotal lymphoedema in an adult Caucasian patient, in Italy. He presented an extremely voluminous scrotal mass measuring 50 x 47 x 13 cm (weight 18 kg), which extended below his knees, invalidating all his daily activities. The patient was hospitalized in order to undergo to surgical treatment. Although genetic causes were searched and the possible role of infectious agents and compressive factors was evaluated, no etiology was ascertained. Histopathologic examination showed non-specific chronic inflammation, confirming the diagnosis of idiopathic elephantiasis. One year after surgical treatment, the patient is healthy without recurrence signs.

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

Science.gov (United States)

Lowenstein, Daniel H

2011-10-01

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

[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.

Causes and consequences of pathogenic processes in evolution: Implications from experimental epilepsy in animals

NARCIS (Netherlands)

Godlevsky, L.S.; Luijtelaar, E.L.J.M. van; Shandra, A.A.; Coenen, A.M.L.

2002-01-01

Examples from experimental epilepsy in animals are used to illustrate the view that a crucial role of the transfer of mechanisms from compensatory into pathogenic (e.g. lethal ones in the course of a disease), is played by the power of pathologic stimuli. In the genesis of epilepsy it is suggested

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....

Mortality rates and causes of death in children with epilepsy prescribed antiepileptic drugs: a retrospective cohort study using the UK General Practice Research Database.

Science.gov (United States)

Ackers, Ruth; Besag, Frank M C; Hughes, Elaine; Squier, Waney; Murray, Macey L; Wong, Ian C K

2011-05-01

Patients with epilepsy, including children, have an increased risk of mortality compared with the general population. Antiepileptic drugs (AEDs) were the most frequent class of drugs reported in a study looking at fatal suspected adverse drug reactions in children in the UK. The objective of the study was to identify cases and causes of death in a paediatric patient cohort prescribed AEDs with an associated epilepsy diagnosis. This was a retrospective cohort study supplemented with general practitioner-completed questionnaires, post-mortem reports and death certificates. The setting was UK primary care practices contributing to the General Practice Research Database. Participants were children and adolescents aged 0-18 years prescribed AEDs between 1993 and 2005. Causality assessment was undertaken by a consensus panel comprising paediatric specialists in neuropathology, neurology, neuropsychiatry, paediatric epilepsy, pharmacoepidemiology and pharmacy to determine crude mortality rate (CMR) and standardized mortality ratios (SMRs), and the likelihood of an association between AED(s) and the event of death. There were 6190 subjects in the cohort (contributing 26,890 person-years of data), of whom 151 died. Median age at death was 8.0 years. CMR was 56.2 per 10,000 person-years and the SMR was 22.4 (95% CI 18.9, 26.2). The majority of deceased subjects had severe underlying disorders. Death was attributable to epilepsy in 18 subjects; in 9 the cause of death was sudden unexpected death in epilepsy (SUDEP) [3.3 per 10 000 person-years (95% CI 1.5, 6.4)]. AEDs were probably (n = 2) or possibly (n = 3) associated causally with death in five subjects. Two status epilepticus deaths were associated causally with AED withdrawal. Children prescribed AEDs have an increased risk of mortality relative to the general population. Most of the deaths were in children with serious underlying disorders. A small number of SUDEP cases were identified. AEDs are not a major

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

Science.gov (United States)

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.

Genetic Forms of Epilepsies and other Paroxysmal Disorders

Science.gov (United States)

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

2016-01-01

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

Review: Hippocampal sclerosis in epilepsy: a neuropathology review

Science.gov (United States)

Thom, Maria

2014-01-01

Hippocampal sclerosis (HS) is a common pathology encountered in mesial temporal lobe epilepsy (MTLE) as well as other epilepsy syndromes and in both surgical and post-mortem practice. The 2013 International League Against Epilepsy (ILAE) classification segregates HS into typical (type 1) and atypical (type 2 and 3) groups, based on the histological patterns of subfield neuronal loss and gliosis. In addition, granule cell reorganization and alterations of interneuronal populations, neuropeptide fibre networks and mossy fibre sprouting are distinctive features of HS associated with epilepsies; they can be useful diagnostic aids to discriminate from other causes of HS, as well as highlighting potential mechanisms of hippocampal epileptogenesis. The cause of HS remains elusive and may be multifactorial; the contribution of febrile seizures, genetic susceptibility, inflammatory and neurodevelopmental factors are discussed. Post-mortem based research in HS, as an addition to studies on surgical samples, has the added advantage of enabling the study of the wider network changes associated with HS, the long-term effects of epilepsy on the pathology and associated comorbidities. It is likely that HS is heterogeneous in aspects of its cause, epileptogenetic mechanisms, network alterations and response to medical and surgical treatments. Future neuropathological studies will contribute to better recognition and understanding of these clinical and patho-aetiological subtypes of HS. PMID:24762203

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

Mutations in KCNT1 cause a spectrum of focal epilepsies

DEFF Research Database (Denmark)

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

2015-01-01

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated w...

Epilepsy in patients with autism: links, risks and treatment challenges

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Besag FMC

2017-12-01

Full Text Available Frank MC Besag Neurodevelopmental Team, East London Foundation NHS Trust, Family Consultation Clinic, Bedford, UK Abstract: Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD, which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence. The rate of autism in epilepsy is much higher in those with intellectual disability. In conditions such as the Landau–Kleffner syndrome and nonconvulsive status epilepticus, the epilepsy itself may present with autistic features. There is no plausible mechanism for autism causing epilepsy, however. The co-occurrence of autism and epilepsy is almost certainly the result of underlying factors predisposing to both conditions, including both genetic and environmental factors. Conditions such as attention deficit hyperactivity disorder, anxiety and sleep disorders are common in both epilepsy and autism. Epilepsy is generally not a contraindication to treating these conditions with suitable medication, but it is important to take account of relevant drug interactions. One of the greatest challenges in autism is to determine why early childhood regression occurs in perhaps 25%. Further research should focus on finding the cause for such regression. Whether epilepsy plays a role in the regression of a subgroup of children with autism who lose skills remains to be determined. Keywords: epilepsy, autism, regression, genetics, environment, Landau-Kleffner, CSWS 

The social causes of inequality in epilepsy and developing a rehabilitation strategy: a U.K.-based analysis.

Science.gov (United States)

Ridsdale, Leone

2009-10-01

A rehabilitation approach has been adopted for many long-term neurologic conditions, but not for epilepsy. The disabilities associated with epilepsy are cognitive, psychological, and social, which are not as readily identified by medical doctors as are physical disabilities. A rehabilitation approach moves the emphasis from a medically driven process to a focus on the personal, social, and physical context of long-term illness. It is suggested that a missed opportunity for education and support for self-management occurs after diagnosis. This results in disadvantage to those whose educational level and knowledge of epilepsy are low. People who do not achieve epilepsy control may then experience higher levels of psychological distress, and a negative cycle of loss of self-efficacy, poor epilepsy control, social disadvantage, and disability. Rehabilitation services have benefited communities surrounding centers of excellence. Not so in epilepsy. Despite centers of excellence, areas with deprivation have higher than national average levels of patients reporting a seizure in the prior year, and higher emergency hospital admissions. Specialists working in partnership with general practitioners (GPs) and practice nurses can do more to increase participation and reduce distress for people with epilepsy. When available, GPs and nurses with special interest in epilepsy promote integrated services. Primary-secondary networks are likely to be more effective in preventing downward drift. This requires evaluation.

Cross-cultural differences in levels of knowledge about epilepsy.

Science.gov (United States)

Doughty, Julie; Baker, Gus A; Jacoby, Ann; Lavaud, Virginie

2003-01-01

To study how much people with epilepsy in Europe know and understand about their condition and how this might affect their lives. Clinical, demographic, psychosocial details and information assessing knowledge were collected by using self-completion questionnaires mailed to members of epilepsy support groups. Data were collected from 6,156 people with epilepsy from ten European countries. There were significant between-country differences in all variables considered. Overall levels of knowledge were acceptable when measured by the epilepsy knowledge questionnaire (EKQ, medical items). However, there were some gaps in knowledge, particularly in issues relating to medication and cause of epilepsy. This is the largest study of its kind to date. Results clearly highlighted that levels of knowledge differed significantly between countries. Overall, people with epilepsy are reasonably well informed about epilepsy, although some gaps in knowledge were evident.

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

NARCIS (Netherlands)

Kasperavičiūtė, D.; Catarino, C.B.; Chinthapalli, K.; Clayton, L.M.S.; Thom, M.; Martinian, L.; Cohen, H.; Adalat, S.; Bockenhauer, D.; Pope, S.A.; Lench, N.; Koltzenburg, M.; Duncan, J.S.; Hammond, P.; Hennekam, R.C.M.; Land, J.M.; Sisodiya, S.M.

2011-01-01

Background: Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained. Methodology/Principal Findings: We describe three patients with common, sporadic,

Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood.

Science.gov (United States)

Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

2010-07-27

Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death.

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

Directory of Open Access Journals (Sweden)

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.

The role of intraductal US in the management of idiopathic recurrent pancreatitis without a definite cause on ERCP.

Science.gov (United States)

Kim, Hyun Su; Moon, Jong Ho; Choi, Hyun Jong; Lee, Jong Chan; Han, Seung Hyo; Hong, Su Jin; Lee, Tae Hoon; Cheon, Young Koog; Cho, Young Deok; Park, Sang-Heum; Lee, Moon Sung

2011-06-01

The cause of pancreatitis is unknown in as many as 30% of cases of recurrent acute pancreatitis, even after ERCP. To investigate the role of intraductal US (IDUS) for managing idiopathic recurrent pancreatitis (IRP). Prospective study. Tertiary referral hospital. Thirty-one patients with suspicious IRP with negative findings on ERCP. IDUS during ERCP. IDUS findings showing any possible cause of pancreatitis. IDUS revealed small bile duct stones (≤3 mm) in 5 patients (16.1%) and sludge in 3 patients (9.7%). The detection rate for a bile duct stone and sludge was significantly higher in patients with a dilated CBD than a nondilated CBD on ERCP (71.4 vs 12.5%; P < .05). Recurrent pancreatitis did not develop in 7 of 8 patients with biliary stones or sludge after an endoscopic sphincterotomy (EST). Two patients (6.5%) demonstrated a small polypoid lesion on the distal end of the pancreatic duct. One patient underwent surgery for intra-ampullary cancer, and another one underwent EST without another attack of pancreatitis. Three patients (9.7%) showed evidence of chronic pancreatitis with small pancreatic stones and/or calcifications on IDUS. Small number of patients. IDUS results were not compared with those of conventional EUS. There was no reference standard for chronic pancreatitis as diagnosed by IDUS. IDUS identified a possible cause of idiopathic recurrent pancreatitis in 42% of patients with negative findings on ERCP. The IDUS-guided approach combined with ERCP and EST may be useful for decreasing recurring attacks of pancreatitis. Copyright © 2011 American Society for Gastrointestinal Endoscopy. Published by Mosby, Inc. All rights reserved.

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

Science.gov (United States)

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

2017-06-01

Children with benign epilepsy with centrotemporal spikes (BECTS) have traditionally been considered to have a uniformly good prognosis. However, benign may be a misnomer because BECTS is linked to cognitive deficits, a more severe phenotype with intractable seizures, and the potential for sudden unexpected death in epilepsy (SUDEP). To determine if cases of BECTS are present in the North American SUDEP Registry (NASR). The NASR is a clinical and biospecimen repository established in 2011 to promote SUDEP research. The NASR database, which includes medical records, results of electroencephalographic tests, and interviews with family members of patients with epilepsy who died suddenly without other identifiable causes of death, was queried from June 3, 2011, to June 3, 2016, for cases of BECTS. The patients with epilepsy had died suddenly without other identifiable causes of death (eg, drowning, trauma, exposure to toxic substances, or suicide); SUDEP classification was determined by the consensus of 2 epileptologists. Cases of SUDEP among children who received a diagnosis of BECTS among patients reported in the NASR. Three boys (median age at death, 12 years; range, 9-13 years) who received a diagnosis of BECTS by their pediatric epileptologist or neurologists were identified among 189 cases reported in the NASR. The median age of epilepsy onset was 5 years (range, 3-11 years), and the median duration of epilepsy was 4 years (range, 1-10 years). Two deaths were definite SUDEP, and 1 was probable SUDEP. Independent review of clinical and electroencephalographic data supported the diagnosis of BECTS in all 3 patients. None of the patients was prescribed antiseizure drugs, either owing to physician recommendation or mutual decision by the physician and parents. All 3 patients were found dead in circumstances typical of SUDEP. The 3 patients spanned the spectrum of BECTS severity: 1 had only a few seizures, 1 had more than 30 focal motor seizures, and 1 had 4 witnessed

Epilepsy

Science.gov (United States)

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

Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice

DEFF Research Database (Denmark)

Jensen, N.; Schroder, H. D.; Hejbol, E. K.

2013-01-01

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50% of the families...... reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications....

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

Directory of Open Access Journals (Sweden)

Laura Ortega-Moreno

Full Text Available Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel. Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5% analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1. Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.

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

Directory of Open Access Journals (Sweden)

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.

Science.gov (United States)

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.

Epilepsy, physical activity and sports

Directory of Open Access Journals (Sweden)

Carrizosa-Moog, Jaime

2017-01-01

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

Celiac disease as a potential cause of idiopathic portal hypertension: a case report

Directory of Open Access Journals (Sweden)

Zamani Farhad

2009-02-01

Full Text Available Abstract Introduction Idiopathic portal hypertension is a disorder of unknown etiology, clinically characterized by portal hypertension, splenomegaly and anemia secondary to hypersplenism. Case presentation A 54-year-old man was admitted to our hospital for evaluation of malaise, weight loss, abdominal swelling and lower limb edema. His paraclinical tests revealed pancytopenia, large ascites, splenomegaly and esophageal varices consistent with portal hypertension. Duodenal biopsy and serologic findings were compatible with celiac disease. His symptoms improved on a gluten-free diet, but his clinical course was further complicated with ulcerative jejunoileitis, and intestinal T-cell lymphoma. Conclusion It seems that celiac disease, by an increased immune reaction in the splenoportal axis, can result in the development of idiopathic portal hypertension in susceptible affected patients.

Idiopathic short stature

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Vlaški Jovan

2013-01-01

Full Text Available Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment, which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients’ genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l, without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3 or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

Magnetic resonance imaging of epilepsy at 3 Tesla

International Nuclear Information System (INIS)

Craven, I.; Griffiths, P.D.; Hoggard, N.

2011-01-01

Patients with epilepsy often have a structural cause for their seizures and may benefit from surgical resection. As recommended in the National Institute of Health and Clinical Excellence (NICE) guidelines, magnetic resonance imaging (MRI) is used to screen for structural abnormalities in these patients and there is increasing evidence that 3T MRI has better sensitivity and specificity than 1.5T. This article reviews the imaging findings of many of the common diseases that can cause epilepsy.

Vertebral derotation in adolescent idiopathic scoliosis causes hypokyphosis of the thoracic spine

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Watanabe Kota

2012-06-01

Full Text Available Abstract Background The purpose of this study was to test the hypothesis that direct vertebral derotation by pedicle screws (PS causes hypokyphosis of the thoracic spine in adolescent idiopathic scoliosis (AIS patients, using computer simulation. Methods Twenty AIS patients with Lenke type 1 or 2 who underwent posterior correction surgeries using PS were included in this study. Simulated corrections of each patient’s scoliosis, as determined by the preoperative CT scan data, were performed on segmented 3D models of the whole spine. Two types of simulated extreme correction were performed: 1 complete coronal correction only (C method and 2 complete coronal correction with complete derotation of vertebral bodies (C + D method. The kyphosis angle (T5-T12 and vertebral rotation angle at the apex were measured before and after the simulated corrections. Results The mean kyphosis angle after the C + D method was significantly smaller than that after the C method (2.7 ± 10.0° vs. 15.0 ± 7.1°, p  Conclusions In the 3D simulation study, kyphosis was reduced after complete correction of the coronal and rotational deformity, but it was maintained after the coronal-only correction. These results proved the hypothesis that the vertebral derotation obtained by PS causes hypokyphosis of the thoracic spine.

Epilepsy surgery in children: outcomes and complications.

Science.gov (United States)

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

2008-04-01

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

[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.

Girl with idiopathic childhood hypercalcemia reveals new disease-causing CYP24A1 mutation

DEFF Research Database (Denmark)

Madsen, Jens Otto Broby; Sauer, Sabrina; Beck, Bodo

2018-01-01

of a 21 months old girl initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia, borderline high vitamin-D levels, and renal ultrasound revealed medullary nephrocalcinosis. An abnormality within the vitamin-D metabolism was suspected......CONTEXT: Idiopathic Infantile Hypercalcemia (IHH) was associated with vitamin-D supplementation in the 1950's. 50 years later mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. CASE DESCRIPTION: We hereby report a case...... and genetic testing was performed. This revealed the patient to be compound heterozygous for a common (p.E143del) and a novel (likely) disease-causing mutation (p.H83D) in the CYP24A1 gene. The hypercalcemia normalized after calcium depleted diet and discontinuation of vitamin-D supplementation. CONCLUSIONS...

A systematic approach for the diagnosis and treatment of idiopathic peptic ulcers

Science.gov (United States)

Chung, Chen-Shuan; Chiang, Tsung-Hsien; Lee, Yi-Chia

2015-01-01

An idiopathic peptic ulcer is defined as an ulcer with unknown cause or an ulcer that appears to arise spontaneously. The first step in treatment is to exclude common possible causes, including Helicobacter pylori infection, infection with other pathogens, ulcerogenic drugs, and uncommon diseases with upper gastrointestinal manifestations. When all known causes are excluded, a diagnosis of idiopathic peptic ulcer can be made. A patient whose peptic ulcer is idiopathic may have a higher risk for complicated ulcer disease, a poorer response to gastric acid suppressants, and a higher recurrence rate after treatment. Risk factors associated with this disease may include genetic predisposition, older age, chronic mesenteric ischemia, smoking, concomitant diseases, a higher American Society of Anesthesiologists score, and higher stress. Therefore, the diagnosis and management of emerging disease should systematically explore all known causes and treat underlying disease, while including regular endoscopic surveillance to confirm ulcer healing and the use of proton-pump inhibitors on a case-by-case basis. PMID:26354049

Marital status of people with epilepsy in Korea.

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Kim, Myeong-Kyu; Kwon, Oh-Young; Cho, Yong-Won; Kim, Yosik; Kim, Sung-Eun; Kim, Hoo-Won; Lee, Sang Kun; Jung, Ki-Young; Lee, Il Keun

2010-11-01

A multicentre face-to-face interview was conducted to identify factors contributing to the marital status of people with epilepsy (PWE) in Korea. The marriage rate of PWEs was only 80% and the divorce rate was more than double that in the general population. Among the single subjects, 34% replied that they were unmarried because of epilepsy, and 76% of divorced PWEs replied that epilepsy was the cause of the divorce. The factors affecting the single and divorced status in PWEs included gender, an earlier onset of seizure and seizure onset before marriage. Not informing the spouse of the disease before marriage for fear of discrimination was not related to disadvantage in marriage negotiation or to divorce. Social stigmatization of epilepsy continues and impacts on the marital status of PWEs in Korea. However, there is no correlation between the perceived and the enacted stigmas of epilepsy. Copyright © 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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

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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.

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

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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-associated long-term mortality after aneurysmal subarachnoid hemorrhage.

Science.gov (United States)

Huttunen, Jukka; Lindgren, Antti; Kurki, Mitja I; Huttunen, Terhi; Frösen, Juhana; Koivisto, Timo; von Und Zu Fraunberg, Mikael; Immonen, Arto; Jääskeläinen, Juha E; Kälviäinen, Reetta

2017-07-18

To elucidate the epilepsy-associated causes of death and subsequent excess long-term mortality among 12-month survivors of subarachnoid hemorrhage from saccular intracranial aneurysm (SIA-SAH). The Kuopio SIA Database (kuopioneurosurgery.fi) includes all SIA-SAH patients admitted to the Kuopio University Hospital from its defined catchment population in Eastern Finland. The study cohort consists of 779 patients, admitted from 1995 to 2007, who were alive at 12 months after SIA-SAH. Their use of reimbursable antiepileptic drugs and the causes of death (ICD-10) were fused from the Finnish national registries from 1994 to 2014. The 779 12-month survivors were followed up until death (n = 197) or December 31, 2014, a median of 12.0 years after SIA-SAH. Epilepsy had been diagnosed in 121 (15%) patients after SIA-SAH, and 34/121 (28%) had died at the end of follow-up, with epilepsy as the immediate cause of death in 7/34 (21%). In the 779 patients alive at 12 months after SIA-SAH, epilepsy was an independent risk factor for mortality (hazard ratio 1.8, 95% confidence interval 1.1-3.0). Comorbid epilepsy in 12-month survivors of SIA-SAH is associated with increased risk of death in long-term follow-up. Survivors of SIA-SAH require long-term dedicated follow-up, including identification and effective treatment of comorbid epilepsy to prevent avoidable deaths. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Gain of function Nanu1.7 mutations in idiopathic small fiber neuropathy.

NARCIS (Netherlands)

Faber, C.G.; Hoeijmakers, J.G.; Ahn, H.S.; Cheng, X.; Han, C.; Choi, J.S.; Estacion, M.; Lauria, G.; Vanhoutte, E.K.; Gerrits, M.M.; Dib-Hajj, S.; Drenth, J.P.H.; Waxman, S.G.; Merkies, I.S.

2012-01-01

OBJECTIVE: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with idiopathic SFN (I-SFN). We sought to identify a genetic basis for I-SFN by screening patients with biopsy-confirmed idiopathic SFN for mutations

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.

Some Aspects of Epilepsy and Convulsions in Childhood | Brett ...

African Journals Online (AJOL)

The diagnostic and therapeutic problems of epilepsy and convulsions in childhood are reviewed. Their non-specific aetiology is stressed, particularly with neonatal convulsions and infantile spasms. The role of febrile convulsions in causing later temporal lobe epilepsy and gross neurological deficit, underlines the ...

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.

Idiopathic Gingival Fibromatosis Rehabilitation: A Case Report with Two-Year Followup

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Mahesh Jayachandran

2013-01-01

Full Text Available Gingival enlargements are quite common and may be either inflammatory, noninflammatory, or a combination of both. Gingival hyperplasia is a bizarre condition causing esthetic, functional, psychological, and masticatory disturbances of the oral cavity. Causes of gingival enlargement can be due to plaque accumulation, due to poor oral hygiene, inadequate nutrition, or systemic hormonal stimulation (Bakaeen and Scully, 1998. It can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. A progressive fibrous enlargement of the gingiva is a facet of idiopathic fibrous hyperplasia of the gingiva (Carranza and Hogan, 2002; Gorlin et al., 1976. It is described variously as fibromatosis gingivae, gingivostomatitis, hereditary gingival fibromatosis, idiopathic fibromatosis, familial elephantiasis, and diffuse fibroma. We present a case of idiopathic gingival fibromatosis with its multidisciplinary approach of management.

Prevalence and etiology of epilepsy in a Norwegian county-A population based study.

Science.gov (United States)

Syvertsen, Marte; Nakken, Karl Otto; Edland, Astrid; Hansen, Gunnar; Hellum, Morten Kristoffer; Koht, Jeanette

2015-05-01

Epilepsy represents a substantial personal and social burden worldwide. When addressing the multifaceted issues of epilepsy care, updated epidemiologic studies using recent guidelines are essential. The aim of this study was to find the prevalence and causes of epilepsy in a representative Norwegian county, implementing the new guidelines and terminology suggested by the International League Against Epilepsy (ILAE). Included in the study were all patients from Buskerud County in Norway with a diagnosis of epilepsy at Drammen Hospital and the National Center for Epilepsy at Oslo University Hospital. The study period was 1999-2014. Patients with active epilepsy were identified through a systematic review of medical records, containing information about case history, electroencephalography (EEG), cerebral magnetic resonance imaging (MRI), genetic tests, blood samples, treatment, and other investigations. Epilepsies were classified according to the revised terminology suggested by the ILAE in 2010. In a population of 272,228 inhabitants, 1,771 persons had active epilepsy. Point prevalence on January 1, 2014 was 0.65%. Of the subjects registered with a diagnostic code of epilepsy, 20% did not fulfill the ILAE criteria of the diagnosis. Epilepsy etiology was structural-metabolic in 43%, genetic/presumed genetic in 20%, and unknown in 32%. Due to lack of information, etiology could not be determined in 4%. Epilepsy is a common disorder, affecting 0.65% of the subjects in this cohort. Every fifth subject registered with a diagnosis of epilepsy was misdiagnosed. In those with a reliable epilepsy diagnosis, every third patient had an unknown etiology. Future advances in genetic research will probably lead to an increased identification of genetic and hopefully treatable causes of epilepsy. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

Subclinical hyperthyroidism and sudden unexpected death in epilepsy.

Science.gov (United States)

Scorza, Fulvio A; Arida, Ricardo M; Cysneiros, Roberta M; Terra, Vera C; de Albuquerque, Marly; Machado, Hélio R; Cavalheiro, Esper A

2010-04-01

Epilepsy is the most common serious neurological condition and sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death. Information concerning risk factors for SUDEP is conflicting, but high seizure frequency is a potential risk factor. Additionally, potential pathomechanisms for SUDEP are unknown, but it is very probable that cardiac arrhythmias during and between seizures or transmission of epileptic activity to the heart via the autonomic nervous system potentially play a role. In parallel, several studies have shown a link between hormones and epilepsy. However, exact knowledge regarding the association of thyroid hormones and epilepsy is lacking. As subclinical hyperthyroidism has been linked with increased risk of cardiovascular disease, we propose in this paper that SUDEP, at least in some cases, could be related with subclinical thyroid dysfunction. (c) 2009 Elsevier Ltd. All rights reserved.

Computed tomography in the assessment of idiopathic spontaneous pneumothorax

International Nuclear Information System (INIS)

Kim, Sang Jin; Lee, Doo Yun; Kim, Hyung Jung

1991-01-01

It is well known that idiopathic spontaneous pneumothorax is caused by rupture of the subpleural bleb and presents difficulty in exact detection and localization of the bleb with plain chest X - ray alone. The authors performed chest CT scans for accurate diagnosis of bleb that would act as a guide for optimal management of idiopathic spontaneous pneumothorax patients in order to prevent recurrent pneumothorax. We could detect blebs in 93 % (26/28) of the patients with idiopathic spontaneous pneumothorax, and 68 % (19/ 28) of the patient had bilateral blebs. Sensitivity was 0.63, and false negative was 37% (37/100) of the blebs, and 51% (19/37) of these 37 false negative cases were ruptured blebs. Only 7 % (2/28) of the patients had a single bleb. The authors concluded that CT is a useful method of study for optimal management of idiopathic spontaneous pneumothorax patients

Development and validation of the Kilifi Epilepsy Beliefs and Attitude Scale

OpenAIRE

Mbuba, Caroline K.; Abubakar, Amina; Hartley, Sally; Odermatt, Peter; Newton, Charles R.; Carter, Julie A.

2012-01-01

Epilepsy remains misunderstood, particularly in resource poor countries (RPC). We developed and validated a tool to assess beliefs and attitudes about epilepsy among people with epilepsy (PWE) in Kilifi, Kenya. The 50-item scale was developed through a literature review and qualitative study findings, and its reliability and validity were assessed with 673 PWE. A final scale of 34 items had Cronbach's alpha scores for the five subscales: causes of epilepsy (??=?0.71); biomedical treatment of ...

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

Science.gov (United States)

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.

Interleukin-1β causes fluoxetine resistance in an animal model of epilepsy-associated depression.

Science.gov (United States)

Pineda, Eduardo A; Hensler, Julie G; Sankar, Raman; Shin, Don; Burke, Teresa F; Mazarati, Andréy M

2012-04-01

Depression represents a common comorbidity of epilepsy and is frequently resistant to selective serotonin reuptake inhibitors (SSRI). We tested the hypothesis that the SSRI resistance in epilepsy associated depression may be a result of a pathologically enhanced interleukin-1β (IL1-β) signaling, and consequently that the blockade of IL1-β may restore the effectiveness of SSRI. Epilepsy and concurrent depression-like impairments were induced in Wistar rats by pilocarpine status epilepticus (SE). The effects of the 2-week long treatment with fluoxetine, interleukin-1 receptor antagonist (IL-1ra), and their combination were examined using behavioral, biochemical, neuroendocrine, and autoradiographic assays. In post-SE rats, depression-like impairments included behavioral deficits indicative of hopelessness and anhedonia; the hyperactivity of the hypothalamo-pituitary-adrenocortical axis; the diminished serotonin output from raphe nucleus; and the upregulation of presynaptic serotonin 1-A (5-HT1A) receptors. Fluoxetine monotherapy exerted no antidepressant effects, whereas the treatment with IL-1ra led to the complete reversal of anhedonia and to a partial improvement of all other depressive impairments. Combined administration of fluoxetine and IL-1ra completely abolished all hallmarks of epilepsy-associated depressive abnormalities, with the exception of the hyperactivity of the hypothalamo-pituitary-adrenocortical axis, the latter remaining only partially improved. We propose that in certain forms of depression, including but not limited to depression associated with epilepsy, the resistance to SSRI may be driven by the pathologically enhanced interleukin-1β signaling and by the subsequent upregulation of presynaptic 5-HT1A receptors. In such forms of depression, the use of interleukin-1β blockers in conjunction with SSRI may represent an effective therapeutic approach.

CT findings of infant epilepsy

International Nuclear Information System (INIS)

Hojoh, Hiroatsu; Kataoka, Kenkichi; Nakagawa, Yoshihiro; Nakano, Shozo; Tomita, Yutaka.

1982-01-01

CT diagnosis of infantile epilepsy was evaluated. High incidence of abnormal CT findings in infantile spasms and Lennox-Gastaut syndrome was same as in other reports. Comparison between CT findings and neurological complications and that between CT findings and electroencephalogram findings revealed a stronger relationship existing in the former. This suggested that CT is more useful as a measure to detect underlying diseases which are due to organic change of the brain to cause epilepsy, rather than as that to disclose epileptic primary lesions of functional change. (Ueda, J.)

Pathology of Visual Memory in Patients with Epilepsy

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Reza Pourhosein

2016-12-01

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

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...

Classification of childhood epilepsies in a tertiary pediatric neurology clinic using a customized classification scheme from the international league against epilepsy 2010 report.

Science.gov (United States)

Khoo, Teik-Beng

2013-01-01

In its 2010 report, the International League Against Epilepsy Commission on Classification and Terminology had made a number of changes to the organization, terminology, and classification of seizures and epilepsies. This study aims to test the usefulness of this revised classification scheme on children with epilepsies aged between 0 and 18 years old. Of 527 patients, 75.1% only had 1 type of seizure and the commonest was focal seizure (61.9%). A specific electroclinical syndrome diagnosis could be made in 27.5%. Only 2.1% had a distinctive constellation. In this cohort, 46.9% had an underlying structural, metabolic, or genetic etiology. Among the important causes were pre-/perinatal insults, malformation of cortical development, intracranial infections, and neurocutaneous syndromes. However, 23.5% of the patients in our cohort were classified as having "epilepsies of unknown cause." The revised classification scheme is generally useful for pediatric patients. To make it more inclusive and clinically meaningful, some local customizations are required.

Idiopathic thoracic transdural intravertebral spinal cord herniation

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Mazda K Turel

2017-01-01

Full Text Available Idiopathic spinal cord herniation is a rare and often missed cause of thoracic myelopathy. The clinical presentation and radiological appearance is inconsistent and commonly confused with a dorsal arachnoid cyst and often is a misdiagnosed entity. While ventral spinal cord herniation through a dural defect has been previously described, intravertebral herniation is a distinct entity and extremely rare. We present the case of a 70-year old man with idiopathic thoracic transdural intravertebral spinal cord herniation and discuss the clinico-radiological presentation, pathophysiology and operative management along with a review the literature of this unusual entity.

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.

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

Idiopathic facial pain related with dental implantation

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Tae-Geon Kwon

2016-06-01

Full Text Available Chronic pain after dental implantation is rare but difficult issue for the implant practitioner. Patients with chronic pain who had been performed previous implant surgery or related surgical intervention sometimes accompany with psychological problem and difficult to adequately manage. According to the International Classification of Headache Disorders (ICHD 3rd eds, Cepalagia 2013, painful neuropathies and other facial pains are subdivided into the 12 subcategories; 13.1. Trigeminal neuralgia; 13.2 Glossopharyngeal neuralgia; 13.3 Nervus intermedius (facial nerve neuralgia; 13.4 Occipital neuralgia; 13.5 Optic neuritis; 13.6 Headache attributed to ischaemic ocular motor nerve palsy; 13.7 Tolosa-Hunt syndrome; 13.8 Paratrigeminal oculo-sympathetic (Raeder’s syndrome; 13.9 Recurrent painful ophthalmoplegic neuropathy; 13.10 Burning Mouth Syndrome (BMS; 13.11 Persistent Idiopathic Facial Pain (PIFP; 13.12 Central neuropathic pain. Chronic orofacial pain after dental implant surgery can be largely into the two main categories that can be frequently encountered in clinical basis ; 1 Neuropathic pain, 2 Idiopathic pain. If there is no direct evidence of the nerve injury related with the implant surgery, the clinician need to consider the central cause of pain instead of the peripheral cause of the pain. There might be several possibilities; 1 Anaesthesia dolorosa, 2 Central post-stroke pain, 3 Facial pain attributed to multiple sclerosis, 4 Persistent idiopathic facial pain (PIFP, 5 Burning mouth syndrome. In this presentation, Persistent idiopathic facial pain (PIFP, the disease entity that can be frequently encountered in the clinic would be discussed. Persistent idiopathic facial pain (PIFP can be defined as “persistent facial and/or oral pain, with varying presentations but recurring daily for more than 2 hours per day over more than 3 months, in the absence of clinical neurological deficit”. ‘Atypical’ pain is a diagnosis of

Incidence and causes of iatrogenic retinal breaks in idiopathic macular hole and epiretinal membrane.

Science.gov (United States)

Yagi, Fumihiko; Takagi, Seiji; Tomita, Goji

2014-03-01

To evaluate the incidence and cause of iatrogenic retinal breaks (RBs) and postoperative retinal detachment (RD) in cases of idiopathic macular hole (MH) and epiretinal membrane (ERM). We analyzed 79 eyes with MH and 41 eyes with ERM, the relationship between the incidence of RBs and RD, and the frequency of posterior vitreous detachment (PVD) and lattice degeneration (LD). The incidence of RBs related to the operation was significantly higher in eyes with MH. The frequency of PVD was significantly higher in eyes with ERM. The frequency of LD did not differ between groups. In the MH group, the incidence of RBs related to the operation was high in eyes without PVD, but with LD. We observed four cases of RD in the MH group. The MH group had higher incidence of RBs related to the operation, especially in eyes without PVD or with LD.

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

Science.gov (United States)

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.

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

Science.gov (United States)

Jóźwiak, Sergiusz

2007-01-01

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

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

Science.gov (United States)

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

1996-01-01

considered as life threatening events. Persian history of epilepsy, except from the 6th century Zoroastrian "Avesta" document, lacks the written or spoken medical heritage untill the 7th century A.D. and the Arabic conquest of the entire Moslem world. On the other hand, Islamic medicine should be freed from the simple prejudice that the Moslem authors were only the translators of Greek medicine; contrary to such a view, their work contains a high degree of individuality. Although Mohammed introduced a lot of novelty into medicine, Khoran and the Sayings do not explicitly refer to epilepsy. Of importance is to notice that Moslem medicine did not have demons in the "repertoire" of direct causes of epilepsy. The causes and the cures of epilepsy were more magic-mystical and occult in nature, which is reminiscent of the European, as well as Serbian Middle age attitudes. Avicenna recognized difference between children and adult epilepsy. He considered insomnia and afternoon siesta as well as intensive sounds and light to be a provocative factors, whereby we see that at least empirically he knew of sleep (deprivation), startle and reflex epilepsy. The XIII century invasion of Mongols brought about the recession in Moslem Medicine; it recovered only in the XVIII century under the strong influence of European medicine handed over to us through Jewish doctors of various nationalities. The story of the China history of epilepsy has its debut approximately in the 8th century B. C. Medical texts from this period name epilepsy "Dian" and "Xian" which meant "the falling sickness" and "convulsions", respectively. Chinese medical terminology often interchangeably used the words "mania", "madness" and "psychosis" for "epilepsy" which, aside from a prominent language barrier, brings additional confusion. Although Chinese documents gave the first description of the grand mal epileptic attack already in the 8th century B. C. (ABSTRACT TRUNCATED)

Abdominal epilepsy in a Nigerian child S

African Journals Online (AJOL)

Abdominal epilepsy is an exceptionally rare cause of abdominal pain that is more likely to ... We report on a child with episodic paroxysmal abdominal pain, accompanied by ... causes for the presenting complaints, work-up should proceed.

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

Science.gov (United States)

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

1994-09-01

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

Premature death, risk factors, and life patterns in dogs with epilepsy

DEFF Research Database (Denmark)

Berendt, Mette; Gredal, Hanne Birgit; Ersbøll, Annette Kjær

2007-01-01

. Animals: Sixty-three dogs diagnosed with epilepsy between 1993 and 1996 were included in this study. Methods: A prospective longitudinal study of the population was performed from the diagnosis of epilepsy until the time of euthanasia, death, or a maximum of 12 years to investigate mortality and risk...... factors. Information about sex, onset, type, frequency, and control of seizures, remission of epilepsy, death, cause of death, and owner's perspective was collected and analyzed. Results: The median age at death of dogs was 7.0 years. The life span of dogs in which euthanasia or death was directly caused...

Diagnosing and treating depression in epilepsy.

Science.gov (United States)

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

2017-01-01

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

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

Science.gov (United States)

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

2013-10-01

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

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

Science.gov (United States)

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.

Idiopathic granulomatous mastitis masquerading as carcinoma of the breast: a case report and review of the literature

OpenAIRE

Tuli, Richard; O'Hara, Brian J; Hines, Janet; Rosenberg, Anne L

2007-01-01

Background Idiopathic granulomatous mastitis is an uncommon, benign entity with a diagnosis of exclusion. The typical clinical presentation of idiopathic granulomatous mastitis often mimics infection or malignancy. As a result, histopathological confirmation of idiopathic granulomatous mastitis combined with exclusion of infection, malignancy and other causes of granulomatous disease is absolutely necessary. Case Presentation We present a case of a young woman with idiopathic granulomatous ma...

Reading, listening and memory-related brain activity in children with early-stage temporal lobe epilepsy of unknown cause-an fMRI study.

Science.gov (United States)

Mankinen, Katariina; Ipatti, Pieta; Harila, Marika; Nikkinen, Juha; Paakki, Jyri-Johan; Rytky, Seppo; Starck, Tuomo; Remes, Jukka; Tokariev, Maksym; Carlson, Synnöve; Tervonen, Osmo; Rantala, Heikki; Kiviniemi, Vesa

2015-09-01

The changes in functional brain organization associated with paediatric epilepsy are largely unknown. Since children with epilepsy are at risk of developing learning difficulties even before or shortly after the onset of epilepsy, we assessed the functional organization of memory and language in paediatric patients with temporal lobe epilepsy (TLE) at an early stage in epilepsy. Functional magnetic resonance imaging was used to measure the blood oxygenation level-dependent (BOLD) response to four cognitive tasks measuring reading, story listening, memory encoding and retrieval in a population-based group of children with TLE of unknown cause (n = 21) and of normal intelligence and a healthy age and gender-matched control group (n = 21). Significant BOLD response differences were found only in one of the four tasks. In the story listening task, significant differences were found in the right hemispheric temporal structures, thalamus and basal ganglia. Both activation and deactivation differed significantly between the groups, activation being increased and deactivation decreased in the TLE group. Furthermore, the patients with abnormal electroencephalograms (EEGs) showed significantly increased activation bilaterally in the temporal structures, basal ganglia and thalamus relative to those with normal EEGs. The patients with normal interictal EEGs had a significantly stronger deactivation than those with abnormal EEGs or the controls, the differences being located outside the temporal structures. Our results suggest that TLE entails a widespread disruption of brain networks. This needs to be taken into consideration when evaluating learning abilities in patients with TLE. The thalamus seems to play an active role in TLE. The changes in deactivation may reflect neuronal inhibition. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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

Science.gov (United States)

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

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

Science.gov (United States)

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

Epilepsy as a systemic condition: Link with somatic comorbidities.

Science.gov (United States)

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

2017-10-01

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

Stress and epilepsy: a population-based cohort study of epilepsy in parents who lost a child

DEFF Research Database (Denmark)

Christensen, Jakob; Li, Jiong; Vestergaard, Mogens

2007-01-01

OBJECTIVE: The goal of the study described here was to study the risk for epilepsy in parents exposed to severe stress caused by loss of a child. METHODS: The risk of being diagnosed with epilepsy (Danish National Hospital Register) in a cohort of parents who had lost a child under the age of 18...... was compared with the risk among parents who had not lost a child. RESULTS: The adjusted relative risk (RR) of epilepsy in parents who had lost a child was 1.50 (95% CI: 1.21-1.86). The RR was modified by time since bereavement and was 2.46 (95% CI: 1.49-4.07) in mothers and 1.92 (95% CI: 1.09-3.36) in fathers...... within the first 3 years of loss of a child, and 2.10 (95% CI: 1.53-2.88) in mothers and 0.66 (95% CI: 0.41-1.06) in fathers 4 to 18 years after loss. CONCLUSIONS: Stress was associated with a moderately increased risk of being diagnosed with epilepsy. Udgivelsesdato: 2007-Nov...

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Science.gov (United States)

Symonds, Joseph D; Joss, Shelagh; Metcalfe, Kay A; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J; Lampe, Anne K; Lees, Melissa M; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P; Zuberi, Sameer M

2017-04-01

The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS). Recently, protein truncating mutations in SMC1A have been reported in five females, all of whom have been affected by a drug-resistant epilepsy, and severe developmental impairment. Our objective was to further delineate the phenotype of SMC1A truncation. Female cases with de novo truncation mutations in SMC1A were identified from the Deciphering Developmental Disorders (DDD) study (n = 8), from postmortem testing of an affected twin (n = 1), and from clinical testing with an epilepsy gene panel (n = 1). Detailed information on the phenotype in each case was obtained. Ten cases with heterozygous de novo mutations in the SMC1A gene are presented. All 10 mutations identified are predicted to result in premature truncation of the SMC1A protein. All cases are female, and none had a clinical diagnosis of CdLS. They presented with onset of epileptic seizures between <4 weeks and 28 months of age. In the majority of cases, a marked preponderance for seizures to occur in clusters was noted. Seizure clusters were associated with developmental regression. Moderate or severe developmental impairment was apparent in all cases. Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. These mutations are likely to be nonviable in males. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

SAHA (Vorinostat Corrects Inhibitory Synaptic Deficits Caused by Missense Epilepsy Mutations to the GABAA Receptor γ2 Subunit

Directory of Open Access Journals (Sweden)

Nela Durisic

2018-03-01

Full Text Available The GABAA receptor (GABAAR α1 subunit A295D epilepsy mutation reduces the surface expression of α1A295Dβ2γ2 GABAARs via ER-associated protein degradation. Suberanilohydroxamic acid (SAHA, also known as Vorinostat was recently shown to correct the misfolding of α1A295D subunits and thereby enhance the functional surface expression of α1A295Dβ2γ2 GABAARs. Here we investigated whether SAHA can also restore the surface expression of γ2 GABAAR subunits that incorporate epilepsy mutations (N40S, R43Q, P44S, R138G known to reduce surface expression via ER-associated protein degradation. As a control, we also investigated the γ2K289M epilepsy mutation that impairs gating without reducing surface expression. Effects of mutations were evaluated on inhibitory postsynaptic currents (IPSCs mediated by the major synaptic α1β2γ2 GABAAR isoform. Recordings were performed in neuron-HEK293 cell artificial synapses to minimise contamination by GABAARs of undefined subunit composition. Transfection with α1β2γ2N40S, α1β2γ2R43Q, α1β2γ2P44S and α1β2γ2R138G subunits produced IPSCs with decay times slower than those of unmutated α1β2γ2 GABAARs due to the low expression of mutant γ2 subunits and the correspondingly high expression of slow-decaying α1β2 GABAARs. SAHA pre-treatment significantly accelerated the decay time constants of IPSCs consistent with the upregulation of mutant γ2 subunit expression. This increase in surface expression was confirmed by immunohistochemistry. SAHA had no effect on either the IPSC kinetics or surface expression levels of α1β2γ2K289M GABAARs, confirming its specificity for ER-retained mutant γ2 subunits. We also found that α1β2γ2K289M GABAARs and SAHA-treated α1β2γ2R43Q, α1β2γ2P44S and α1β2γ2R138G GABAARs all mediated IPSCs that decayed at significantly faster rates than wild type receptors as temperature was increased from 22 to 40°C. This may help explain why these mutations cause febrile

Idiopathic non-cirrhotic portal hypertension: a review

NARCIS (Netherlands)

Schouten, Jeoffrey N. L.; Verheij, Joanne; Seijo, Susana

2015-01-01

Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare disease characterized of intrahepatic portal hypertension in the absence of cirrhosis or other causes of liver disease and splanchnic venous thrombosis. The etiology of INCPH can be classified in five categories: 1) immunological

Is ketogenic diet treatment hepatotoxic for children with intractable epilepsy?

Science.gov (United States)

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.

Accelerated cognitive decline in a rodent model for temporal lobe epilepsy

NARCIS (Netherlands)

Schipper, Sandra; Aalbers, Marlien W.; Rijkers, Kim; Lagiere, Melanie; Bogaarts, Jan G.; Blokland, Arjan; Klinkenberg, Sylvia; Hoogland, Govert; Vles, Johan S. H.

2016-01-01

Objective: Cognitive impairment is frequently observed in patients with temporal lobe epilepsy. It is hypothesized that cumulative seizure exposure causes accelerated cognitive decline in patients with epilepsy. We investigated the influence of seizure frequency on cognitive decline in a rodent

Epilepsy, poverty and early under-nutrition in rural Ethiopia.

Science.gov (United States)

Vaid, Nidhi; Fekadu, Sintayehu; Alemu, Shitaye; Dessie, Abere; Wabe, Genale; Phillips, David I W; Parry, Eldryd H O; Prevett, Martin

2012-11-01

The incidence of epilepsy in Ethiopia is high compared with industrialised countries, but in most cases the cause of epilepsy is unknown. Childhood malnutrition remains widespread. We performed a case-control study to determine whether epilepsy is associated with poverty and markers of early under-nutrition. Patients with epilepsy (n=112), aged 18-45years, were recruited from epilepsy clinics in and around two towns in Ethiopia. Controls with a similar age and gender distribution (n=149) were recruited from patients and relatives attending general outpatient clinics. We administered a questionnaire to define the medical and social history of cases and controls, and then performed a series of anthropometric measurements. Unconditional logistic regression was used to estimate multivariate adjusted odds ratios. Multiple linear regression was used to estimate adjusted case-control differences for continuously distributed outcomes. Epilepsy was associated with illiteracy/low levels of education, odds ratio=3.0 (95% confidence interval: 1.7-5.6), subsistence farming, odds ratio=2.6 (1.2-5.6) and markers of poverty including poorer access to sanitation (p=0.009), greater overcrowding (p=0.008) and fewer possessions (ppoor education and markers of poverty. Patients with epilepsy also had evidence of stunting and disproportionate skeletal growth, raising the possibility of a link between early under-nutrition and epilepsy. Copyright © 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Epilepsy: A Disruptive Force in History.

Science.gov (United States)

Ali, Rohaid; Connolly, Ian D; Feroze, Abdullah H; Awad, Ahmed J; Choudhri, Omar A; Grant, Gerald A

2016-06-01

Since it was first described in a Mesopotamian text in 2000 bc, countless individuals have offered their perspectives on epilepsy's cause, treatment, and even deeper spiritual significance. However, despite the attention the disease has received through the millennia, it has only been within the past half-century that truly effective treatment options have been available. As a result, for the vast majority of recorded history, individuals with epilepsy have not only had to deal with the uncertainty of their next epileptic seizure but also the concomitant stigma and ostracization. Interestingly, these individuals have included several prominent historical figures, including Julius Caesar, Vladimir Lenin, and Fyodor Dostoyevsky. The fact that epilepsy has appeared in the lives of influential historical people means that the disease has played some role in affecting the progress of human civilization. Epilepsy has cut short the lives of key political leaders, affected the output of talented cultural icons, and, especially within the past half century, influenced the collective understanding of neuroscience and the human nervous system. In this article, the authors review how epilepsy throughout history has manifested itself in the lives of prominent figures and how the disease has helped shape the course of humanity's political, cultural, and scientific evolution. Copyright © 2015 Elsevier Inc. All rights reserved.

DEPDC5 as a potential therapeutic target for epilepsy.

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Myers, Kenneth A; Scheffer, Ingrid E

2017-06-01

Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy. Areas covered: This review summarizes the mTOR pathway, including regulators and downstream effectors, emphasizing recent developments in the understanding of the complex role of the GATOR1 complex. We review the epilepsy types associated with mTOR overactivity, including tuberous sclerosis, polyhydramnios megalencephaly symptomatic epilepsy, cortical dysplasia, non-lesional focal epilepsy and post-traumatic epilepsy. Currently available mTOR inhibitors are discussed, primarily rapamycin analogs and ATP competitive mTOR inhibitors. Expert opinion: DEPDC5 is an attractive therapeutic target in focal epilepsy, as effects of DEPDC5 agonists would likely be anti-epileptogenic and more selective than currently available mTOR inhibitors. Therapeutic effects might be synergistic with certain existing dietary therapies, including the ketogenic diet.

Evidence for cognitive vestibular integration impairment in idiopathic scoliosis patients

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Mercier Pierre

2009-08-01

Full Text Available Abstract Background Adolescent idiopathic scoliosis is characterized by a three-dimensional deviation of the vertebral column and its etiopathogenesis is unknown. Various factors cause idiopathic scoliosis, and among these a prominent role has been attributed to the vestibular system. While the deficits in sensorimotor transformations have been documented in idiopathic scoliosis patients, little attention has been devoted to their capacity to integrate vestibular information for cognitive processing for space perception. Seated idiopathic scoliosis patients and control subjects experienced rotations of different directions and amplitudes in the dark and produced saccades that would reproduce their perceived spatial characteristics of the rotations (vestibular condition. We also controlled for possible alteration of the oculomotor and vestibular systems by measuring the subject's accuracy in producing saccades towards memorized peripheral targets in absence of body rotation and the gain of their vestibulo-ocular reflex. Results Compared to healthy controls, the idiopathic scoliosis patients underestimated the amplitude of their rotations. Moreover, the results revealed that idiopathic scoliosis patients produced accurate saccades to memorized peripheral targets in absence of body rotation and that their vestibulo-ocular reflex gain did not differ from that of control participants. Conclusion Overall, results of the present study demonstrate that idiopathic scoliosis patients have an alteration in cognitive integration of vestibular signals. It is possible that severe spine deformity developed partly due to impaired vestibular information travelling from the cerebellum to the vestibular cortical network or alteration in the cortical mechanisms processing the vestibular signals.

[Epilepsy in literature, cinema and television].

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Collado-Vázquez, Susana; Carrillo, Jesús María

2012-10-01

Literature, cinema and television have often portrayed stereotypical images of people that have epilepsy and have helped foster false beliefs about the disease. To examine the image of epilepsy presented by literature, cinema and television over the years. Epilepsy has frequently been portrayed in literary works, films and television series, often relating it with madness, delinquency, violent behaviours or possession by the divine or the diabolical, all of which has helped perpetuate our ancestral beliefs. The literary tales and the images that appear in films and on television cause an important emotional impact and, bearing in mind that many people will only ever see an epileptic seizure in a film or in a TV series or might gain some information about the disorder from a literary text, what they see on the screen or read in the novels will be their only points of reference. Such experiences will therefore mark the awareness and knowledge they will have about epilepsy and their attitudes towards the people who suffer from it. Novels and films are fiction, but it is important to show realistic images of the disease that are no longer linked to the false beliefs of the past and which help the general public to have a more correct view of epilepsy that is free from prejudices and stereotypes. Literature, cinema and television have often dealt with the subject of epilepsy, sometimes realistically, but in many cases they have only helped to perpetuate false beliefs about this disease.

Electrocardiographic features of sudden unexpected death in epilepsy.

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Chyou, Janice Y; Friedman, Daniel; Cerrone, Marina; Slater, William; Guo, Yu; Taupin, Daniel; O'Rourke, Sean; Priori, Silvia G; Devinsky, Orrin

2016-07-01

Sudden unexpected death in epilepsy (SUDEP) is the most common cause of epilepsy-related mortality. We hypothesized that electrocardiography (ECG) features may distinguish SUDEP cases from living subjects with epilepsy. Using a matched case-control design, we compared ECG studies of 12 consecutive cases of SUDEP over 10 years and 22 epilepsy controls matched for age, sex, epilepsy type (focal, generalized, or unknown/mixed type), concomitant antiepileptic, and psychotropic drug classes. Conduction intervals and prevalence of abnormal ventricular conduction diagnosis (QRS ≥110 msec), abnormal ventricular conduction pattern (QRS <110 msec, morphology of incomplete right or left bundle branch block or intraventricular conduction delay), early repolarization, and features of inherited cardiac channelopathies were assessed. Abnormal ventricular conduction diagnosis and pattern distinguished SUDEP cases from matched controls. Abnormal ventricular conduction diagnosis was present in two cases and no controls. Abnormal ventricular conduction pattern was more common in cases than controls (58% vs. 18%, p = 0.04). Early repolarization was similarly prevalent in cases and controls, but the overall prevalence exceeded that of published community-based cohorts. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

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...

Anticonvulsant-induced downbeat nystagmus in epilepsy

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Dongyan Wu

2015-01-01

Full Text Available We report data from two patients who developed reversible downbeat nystagmus (DBN while using AEDs within the therapeutic range. All previous reported cases of epilepsy with drug-induced DBN related to toxic levels of AEDs were summarized, and DBN was found mostly occurring in those using a sodium channel blocking AED. We propose that in our cases, the DBN with therapeutic AED levels may be explained by additive effects of sodium channel blockers. Adverse drug effects should be considered as a cause of DBN in people with epilepsy treated with multiple AEDs.

Idiopathic pulmonary fibrosis: evolving concepts.

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Ryu, Jay H; Moua, Teng; Daniels, Craig E; Hartman, Thomas E; Yi, Eunhee S; Utz, James P; Limper, Andrew H

2014-08-01

Idiopathic pulmonary fibrosis (IPF) occurs predominantly in middle-aged and older adults and accounts for 20% to 30% of interstitial lung diseases. It is usually progressive, resulting in respiratory failure and death. Diagnostic criteria for IPF have evolved over the years, and IPF is currently defined as a disease characterized by the histopathologic pattern of usual interstitial pneumonia occurring in the absence of an identifiable cause of lung injury. Understanding of the pathogenesis of IPF has shifted away from chronic inflammation and toward dysregulated fibroproliferative repair in response to alveolar epithelial injury. Idiopathic pulmonary fibrosis is likely a heterogeneous disorder caused by various interactions between genetic components and environmental exposures. High-resolution computed tomography can be diagnostic in the presence of typical findings such as bilateral reticular opacities associated with traction bronchiectasis/bronchiolectasis in a predominantly basal and subpleural distribution, along with subpleural honeycombing. In other circumstances, a surgical lung biopsy may be needed. The clinical course of IPF can be unpredictable and may be punctuated by acute deteriorations (acute exacerbation). Although progress continues in unraveling the mechanisms of IPF, effective therapy has remained elusive. Thus, clinicians and patients need to reach informed decisions regarding management options including lung transplant. The findings in this review were based on a literature search of PubMed using the search terms idiopathic pulmonary fibrosis and usual interstitial pneumonia, limited to human studies in the English language published from January 1, 2000, through December 31, 2013, and supplemented by key references published before the year 2000. Copyright © 2014 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Mortality risks in new-onset childhood epilepsy

NARCIS (Netherlands)

A.T. Berg (Anne); K. Nickels (Katherine); E.C. Wirrell (Elaine); A.T. Geerts (Ada); P.M.C. Callenbach (Petra); W.F.M. Arts (Willem Frans); C. Rios (Christina); P. Camfield (Peter); C. Camfield (Carol)

2013-01-01

textabstractOBJECTIVES: 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. METHODS: Mortality experiences from 4 pediatric cohorts of

Mortality Risks in New-Onset Childhood Epilepsy

NARCIS (Netherlands)

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.

OBJECTIVES: 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. METHODS: Mortality experiences from 4 pediatric cohorts of newly

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

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Mercimek-Mahmutoglu, Saadet; Horvath, Gabriella A; Coulter-Mackie, Marion; Nelson, Tanya; Waters, Paula J; Sargent, Michael; Struys, Eduard; Jakobs, Cornelis; Stockler-Ipsiroglu, Sylvia; Connolly, Mary B

2012-05-01

Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients with classic PDE. We report the case of a 13-month-old girl with profound neonatal hypoglycemia (0.6 mmol/L; reference range >2.4), lactic acidosis (11 mmol/L; reference range A (p.Val278Val), and a novel putative pathogenic missense mutation c.1192G>C (p.Gly398Arg) in the ALDH7A1 gene. She has been seizure-free since 1.5 months of age on treatment with pyridoxine alone. She has motor delay and central hypotonia but normal language and social development at the age of 13 months. This case is the first description of a patient with PDE due to mutations in the ALDH7A1 gene who presented with profound neonatal hypoglycemia and lactic acidosis masquerading as a neonatal-onset gluconeogenesis defect. PDE should be included in the differential diagnosis of hypoglycemia and lactic acidosis in addition to medically refractory neonatal seizures.

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)

A brief history of epilepsy and its therapy in the Western Hemisphere.

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Gross, R A

1992-07-01

The history of epilepsy and its treatment in the western world dates back at least 4 millennia to the ancient civilization of the middle east. Past and present treatments have been empirical, usually reflecting the prevailing views of epilepsy, be they medical, theological or superstitious. Ancient physicians relied on clinical observation to distinguish between epileptic syndromes and infer their cause. Early pathophysiological theories of epilepsy correctly identified the brain as the site of the problem, but emphasized incorrect causes such as an excess of phlegm in the brain. Treatments consisted of prescribed diets or living conditions, occasional surgery such as bloodletting or skull trephination and medicinal herbs. These treatments, often ineffective, had the intellectual advantage of being based on pathophysiological principles, unlike current, more empirical, therapies. The unfortunate but widely held view of epilepsy as being due to occult or evil influences gained adherents even in the medical world during ancient times, and the later acceptance of Christianity allowed theological interpretations of seizures as well. Magical or religious treatments were more frequently prescribed as a result, practices which persist to this day. In the Renaissance an attempt was made to view epilepsy as a manifestation of physical illness rather than a moral or occult affliction, but it was during the Enlightenment that epilepsy was viewed along more modern lines, helped by advances in anatomy and pathology and the development of chemistry, pharmacy and physiology. The idea that focal irritation may cause seizures came about from clinical and experimental work, and was supported by the successful control of seizures by the (sedative) bromides and barbiturates in the late 19th century. The introduction of phenytoin showed that non-sedative drugs could be effective in controlling seizures as well, and the development of in vivo seizure models widened the scope of

Idiopathic burning mouth syndrome: a common treatment-refractory somatoform condition responsive to ECT.

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McGirr, Alexander; Davis, Lindsay; Vila-Rodriguez, Fidel

2014-04-30

Somatic symptom disorders are common causes of disability and suffering, and can pose significant management challenges. Idiopathic burning mouth syndrome is a challenging somatic symptom disorder with relatively high prevalence, particularly among post-menopausal women. Here, we present the case of a woman with severe treatment refractory idiopathic burning mouth syndrome and comorbid major depressive disorder, who was successfully treated with bitemporal electroconvulsive therapy. This case highlights the potential effectiveness of electroconvulsive therapy in idiopathic burning mouth syndrome when other treatment options have been exhausted. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Advocacy for children with epilepsy: Leveraging the WHA resolution. Advocacy Task Force, Commission of Pediatrics, International League Against Epilepsy.

Science.gov (United States)

Wilmshurst, Jo M; Guekht, Alla; Secco, Mary; Helen Cross, J; Perucca, Emilio

2018-06-01

In May 2015 the World Health Assembly (WHA) approved the Resolution on the Global Burden of Epilepsy. This report addresses how the Resolution can be leveraged to improve the care of children with epilepsy worldwide. Children with epilepsy have unique needs and face unique challenges from stigma at all levels of society. Children lack a voice to lobby for their own needs, including their right to have access to education. Effective leadership and governance should be enhanced through the support of stakeholders empowered to counsel, advise, and lobby for appropriate care. National health care plans should integrate primary and specialist care, and they need to be adapted to local specificities. Antiepileptic medicines should be widely accessible in appropriate, sustained, and affordable ways. Public awareness initiatives are needed to improve the inclusion of affected children in society and to reduce stigma. Cost-effective interventions are also needed to address preventable causes of epilepsy. Without greater investment in research, evidence-based interventions cannot be implemented. Through all of this, civil society must be engaged to ensure that the multivariate dimensions from the clinic to the community are addressed to fulfil the needs of children with epilepsy.

Sudden cardiac arrest in people with epilepsy in the community

Science.gov (United States)

Lamberts, Robert J.; Blom, Marieke T.; Wassenaar, Merel; Bardai, Abdennasser; Leijten, Frans S.; de Haan, Gerrit-Jan; Sander, Josemir W.; Thijs, Roland D.

2015-01-01

Objective: To ascertain whether characteristics of ventricular tachycardia/fibrillation (VT/VF) differed between people with epilepsy and those without and which individuals with epilepsy were at highest risk. Methods: We ascertained 18 people with active epilepsy identified in a community-based registry of sudden cardiac arrest (SCA) with ECG-confirmed VT/VF (cases). We compared them with 470 individuals with VT/VF without epilepsy (VT/VF controls) and 54 individuals with epilepsy without VT/VF (epilepsy controls). Data on comorbidity, epilepsy severity, and medication use were collected and entered into (conditional) logistic regression models to identify determinants of VT/VF in epilepsy. Results: In most cases, there was an obvious (10/18) or presumed cardiovascular cause (5/18) in view of preexisting heart disease. In 2 of the 3 remaining events, near–sudden unexpected death in epilepsy (SUDEP) was established after successful resuscitation. Cases had a higher prevalence of congenital/inherited heart disease (17% vs 1%, p = 0.002), and experienced VT/VF at younger age (57 vs 64 years, p = 0.023) than VT/VF controls. VT/VF in cases occurred more frequently at/near home (89% vs 58%, p = 0.009), and was less frequently witnessed (72% vs 89%, p = 0.048) than in VT/VF controls. Cases more frequently had clinically relevant heart disease (50% vs 15%, p = 0.005) and intellectual disability (28% vs 1%, p epilepsy controls. Conclusion: Cardiovascular disease rather than epilepsy characteristics is the main determinant of VT/VF in people with epilepsy in the community. SCA and SUDEP are partially overlapping disease entities. PMID:26092917