DOCSLIB.ORG

F ก F Incidence of Epilepsy Generalized Seizure

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
F ก F Incidence of Epilepsy Generalized Seizure excessive neuronal discharges Incidence of epilepsy Clinical r a 200 seizures e y / 0 Pediatrics Primary Generalized 0 0 150 0 0 1 Epileptic Syndromes / e c 100 n e d i c n 50 I 0 ก 0 5 10 20 40 60 80 Age (years) Generalized seizure Syndrome Type Def: • Idiopathic epilepsy syndrome: A syndrome that is only epilepsy, with no underlying structural brain lesion or other neurological signs or symptoms. Etiology presumed to be genetic. Usually age- dependent • Symptomatic epilepsy syndrome: Epileptic seizures are result of an identifiable structural lesion • Probably symptomatic epilepsy syndrome : Epileptic seizures are believed to be symptomatic, but no aetiology has been identified • Benign epilepsy syndrome: Epileptic seizures are easily treated or need no treatment and remit without sequelae PROPOSED DIAGNOSTIC SCHEME FOR PEOPLE WITH % Etiology of epilepsy EPILEPTIC SEIZURES AND WITH EPILEPSY Engel et al. Epilepsia 2001;42(6):796-803 70 Axis 1 Ictal phenomenology 60 Unknown - detailed description of symtoms during the seizure 50 Birth injury Axis 2 Seizure type or types 40 Infections - according to ictal phenomenology and EEG 30 Head trauma Axis 3 Syndrome 20 Stroke - list of syndromes, syndromic diagnosing is not always possible 10 Brain tumor Axis 4 Etiology - genetic defects, or specific pathological substrates for symptomatic 0 Other focal epilepsies <1 v. 1-9yrs 10- 20-29 30- >50yrs 19yrs yrs 39yrs Axis 5 Impairment - disability caused by epilepsy Age at onset ILAE Classification of Epilepsy Localization-Related (named by Generalized (named by location) disease) Diagnostic Features of Idiopathic Generalized Epilepsy Idiopathic Benign Rolandic epilepsy (Benign childhood epilepsy with Benign Neonatal Convulsions (+/- centro-temporal spikes) familial) Benign occipital epilepsy of childhood Benign myoclonic epilepsy in infancy Autosomal dominant nocturnal frontal lobe epilepsy Childhood absence epilepsy • age of onset-late childhood to early adult life Primary Reading Epilepsy Juvenile absence epilepsy Juvenile myoclonic epilepsy • seizure type - absence, myoclonus, tonic-clonic Epilepsy with GTCs on awakening Some reflex epilepsies • lack of underlying structural etiology although Symptoma Temporal lobe Early myoclonic encephalopathy microscopical/QMRI changes may be present tic Frontal lobe Early infantile epileptic encephalopathy Parietal lobe with suppression- burst (Ohtahara’s syndrome) • specific EEG finding (3 Hz spike and Occipital lobe Cortical abnormalities wave/photosensitivity) -malformations (Rasmussen’s encephalitis) -dysplasias • genetic basis and positive family history (Most Reflex epilepsies) Metabolic abnormalities - amino acidurias - organic acidurias • diurnal pattern of seizure occurence (awakening) - mitochondrial diseases - progressive encephalopathies of • excellent response to ”valproate”-like AEDs childhood West’s Syndrome Lennox-Gastaut Syndrome Cryptogeni (Any occurrence of partial seizures without obvious Epilepsy with myoclonic-astatic seizures c pathology.) Epilepsy with myoclonic absence Diagnostic Features of Idiopathic vs Symptomatic Focal Epilepsies Generalized Epilepsies Idiopathic Symptomatic • age of onset -throughout lifetime 1. Etiology Genetic Acquired/Genetic • seizure type – simple/complex partial 2. Seizure Absence Atypical absences and/or secondarily generalized tonic- types Myoclonic Tonic, atonic clonic Tonic-clonic Tonic-clonic • underlying structural etiology may be 3. Exam Normal Intellectual disability found and MRI should be performed 4. EEG Normal background, Background • focal EEG finding may be present, but Spike-wave 3 Hz Slowing, Spike-wave 2,5Hz interictal EEG may be also normal 5. Imaging Normal Often focal or diffuse • response to ”carbamazepine”-like AEDs (cortical abnormality) lesions 6. Prognosis Good Poor Genetically defined epileptic syndromes From gene defect to epilepsy phenotype and specific diseases – epilepsies in inborn errors of metabolism . Single gene Idiopathic epilepsies defects partial – progressive myoclonic epilepsies (PME) generalised – epilepsies and chromosomal disorders Altered gene Epilepsy Something between function phenotypes idiopathic and symptomatic ? – epilepsy and malformations of the cerebral Are idiopathic epilepsies cortex benign ? – new epilepsy syndromes or subsyndromes Symptomatic epilepsies with single gene inheritance Complex, polygenic progressive neurodegeneration – Rasmussen´s syndrome defects disturbed metabolism abnormal brain development – the mesio-temporal lobe epilepsy syndrome Epilepsy syndromes GEFS+ Generalized Epilepsy with Febrile Seizures plus (GEFS+). A genetic disorder with heterogeneous clinical phenotypes. GENE GENE GENE PRODUCT Scheffer IE, Berkovic SF. Brain 1997 Mar;120 ( Pt 3):479-90. LOCUS • family with members with generalised epilepsies of various types and FS 19q13 SCN1B (missense) Voltage-gated Na channel •FS + febrile seizures lasting over age of 6 years – beta 1 subunit •FS+ absences or myoclonic sz’s or atonic sz’s, myoclonic-astatic epilepsy 2q24 SCN1A (missense) Voltage-gated Na channel – alpha 1 subunit 2q24 SCN2A (missense) Voltage-gated Na channel – alpha 2 subunit 5q34 GABRG2 (missense) GABAa receptor – gamma 2 subunit • Known idiopathic epilepsy genes Guerrini et al., TRENDS in Molecular Medicine Vol.9 No.7 July 2003 Locus Heterogeneity and Variable Expressivity Genes missense Inherited GEFS+ SCN1A D e no vo CAE and FS tr un SCN1B ca ti ng Dravet syndrome SCN2A (SMEI) GABRG2 Benign familial neonatal-infantile seizures (BFNIC) EPILEPSY SYNDROMES AND RELATED CONDITIONS Benign familial neonatal seizures Childhood absence epilepsy Early myoclonic encephalopathy Progressive myoclonus epilepsies Ohtahara syndrome Idiopathic generalized epilepsies Neonatal Epileptic Syndromes : Idiopathic Migrating partial seizures of infancy Juvenile absence epilepsy West syndrome/ Infantile Spasms Juvenile myoclonic epilepsy Benign myoclonic epilepsy in infancy Epilepsy with generalized t-c seizures only Benign familial neonatal seizures* Onset day 2-3, up to 10-20 Sz/day, Autosomal. Benign familial infantile seizures Reflex epilepsies Idiopathic photosensitive occipital lobe epilepsy Dominant Chr. 20->Fam Hx(+), Stop in 1-6 m/o. Benign infantile seizures (non-familial) Other visual sensitive epilepsies Dravet's syndrome (SMEI) Primary reading epilepsy 10% turn epielptic Hemiconvulsion Hemiparesis syndrome Startle epilepsy Benign idiopathic neonatal seizures (fifth-day Common up to 5% of FT Sz. Multifocal clonic, Myoclonic status in nonprogressive Autosomal dominant nocturnal frontal lobe epilepsy encephalopathies Familial temporal lobe epilepsies fits)* can have apnea, status epielpticus.Sz stop in 1 Benign childhood epilepsy with Generalized epilepsies with febrile seizures plus to max. 15 days. Poss. Zn def as etiology. centrotemporal spikes (BECTS) Familial focal epilepsy with variable foci Early onset benign childhood occipital Symptomatic (or probably symptomatic) focal st epilepsy (Panayiotopoulos type) epilepsies Benign neonatal sleep myoclonus Myoclonic Sz in sleep, Nl EEG. Onset 1 wk, Late onset childhood occipital epilepsy Limbic epilepsies resolved in 2 months. (Gastaut type) Mesial temporal lobe epilepsy with HS Epilepsy with myoclonic absences Mesial temporal lobe epilepsy defined Benign myoclonus of early infancy (benign Myoclonic sz during wakefulness, Onset 3-9 Epilepsy with myoclonic-astatic seizures by specific etiologies nonepileptic Infantile spasms) months,can continue up to 1-2 year. Lennox-Gastaut syndrome Other types defined by location and etiology Landau-Kleffner syndrome Neocortical epilepsies Epilepsy with CSWS (other than LKS) Rasmussen syndrome Other types defined by location and etiology Benign Familial Neonatal Seizures (BFNS) Benign Idiopathic Neonatal Seizures (BINS) Insidence: 1.4/10 000 live births Age of onset: 80% D2-3 (rest up to1-3 mth, usually premature) Prevalence: 2-7 % of all neonatal seizures Etiology: EBN1 locus 20q13.3 gene KCNQ2 Age of onset: 97% D3-D7 EBN2 locus 8q24 gene KCNQ3 Etiology: idiopathic Seizures: start with a diffuse tonic component, followed by various autonomic and motor Seizures: clonic partial, and/or apneic, never tonic (clonic)changes EEG: interictal: normal or bursts of theta rhythms on EEG: interictal normal Rolandic areas ictal: flattening of background, focalized or generalized spikes or slow waves ictal: rhytmic spikes and spike waves Therapy: short-term PB or VPA up to 6 months Therapy: no treatment or short-term AEDs Prognosis: favourable , risk of febrile seizures 5%, subsequent Prognosis: favorable, however, probably up to 50% have epilepsy 11%, especially BECTS, no mental some abnormalities as child; febrile seizures, retardation, no neurological abn.,no severe other seizures, BECTS, minor neurological epilepsy impairment Early infantile epileptic encephalopathy with suppression-bursts (EIEE, Ohtahara´s syndrome) Otahara : Dx criteria Insidence: no data Age of onset: within first 3 months • Aicardiand Ohtahara 2002: Etiology: cerebral dysgenesis, anoxia, cryptogenic (1) Onset in early infancy, within the first 3 months, mainly within the first 10 days of life Seizures: tonic spasm , focal motor, hemiconvulsions, (2) Main seizure pattern: tonic spasms generalized seizures (3) Other seizures: partial seizures, rare myoclonic seizures Background EEG: suppression-burst ** in both awake and sleep (4) Suppression bursts in EEG, during both waking and sleeping Ictal EEG: diffuse synchronization, cluster of fast activity states
Load more

Recommended publications
  • Epilepsy Syndromes E9 (1)
    EPILEPSY SYNDROMES E9 (1) Epilepsy Syndromes Last updated: September 9, 2021 CLASSIFICATION .......................................................................................................................................... 2 LOCALIZATION-RELATED (FOCAL) EPILEPSY SYNDROMES ........................................................................ 3 TEMPORAL LOBE EPILEPSY (TLE) ............................................................................................................... 3 Epidemiology ......................................................................................................................................... 3 Etiology, Pathology ................................................................................................................................ 3 Clinical Features ..................................................................................................................................... 7 Diagnosis ................................................................................................................................................ 8 Treatment ............................................................................................................................................. 15 EXTRATEMPORAL NEOCORTICAL EPILEPSY ............................................................................................... 16 Etiology ................................................................................................................................................ 16
    [Show full text]
  • Handbook of EEG INTERPRETATION This Page Intentionally Left Blank Handbook of EEG INTERPRETATION
    Handbook of EEG INTERPRETATION This page intentionally left blank Handbook of EEG INTERPRETATION William O. Tatum, IV, DO Section Chief, Department of Neurology, Tampa General Hospital Clinical Professor, Department of Neurology, University of South Florida Tampa, Florida Aatif M. Husain, MD Associate Professor, Department of Medicine (Neurology), Duke University Medical Center Director, Neurodiagnostic Center, Veterans Affairs Medical Center Durham, North Carolina Selim R. Benbadis, MD Director, Comprehensive Epilepsy Program, Tampa General Hospital Professor, Departments of Neurology and Neurosurgery, University of South Florida Tampa, Florida Peter W. Kaplan, MB, FRCP Director, Epilepsy and EEG, Johns Hopkins Bayview Medical Center Professor, Department of Neurology, Johns Hopkins University School of Medicine Baltimore, Maryland Acquisitions Editor: R. Craig Percy Developmental Editor: Richard Johnson Cover Designer: Steve Pisano Indexer: Joann Woy Compositor: Patricia Wallenburg Printer: Victor Graphics Visit our website at www.demosmedpub.com © 2008 Demos Medical Publishing, LLC. All rights reserved. This book is pro- tected by copyright. No part of it may be reproduced, stored in a retrieval sys- tem, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without the prior written permission of the publisher. Library of Congress Cataloging-in-Publication Data Handbook of EEG interpretation / William O. Tatum IV ... [et al.]. p. ; cm. Includes bibliographical references and index. ISBN-13: 978-1-933864-11-2 (pbk. : alk. paper) ISBN-10: 1-933864-11-7 (pbk. : alk. paper) 1. Electroencephalography—Handbooks, manuals, etc. I. Tatum, William O. [DNLM: 1. Electroencephalography—methods—Handbooks. WL 39 H23657 2007] RC386.6.E43H36 2007 616.8'047547—dc22 2007022376 Medicine is an ever-changing science undergoing continual development.
    [Show full text]
  • Psychogenic Seizurespsychogenicseizures
    PsychogenicPsychogenicSeizuresSeizures MMaartrtiinnSaSalliinsnskykyMM..DD.. PoPortrtllaandndVVAAMMCCEEpipillepsyepsyCCententererooffEExxcecellllenceence OreOreggoonnHeaHealltthh&&SciScienceenceUUninivverersisittyy …You’d better ask the doctors here about my illness, sir. Ask them whether my fit was real or not. TTheheBBrrootthershersKaKararamamazzoovv;;FF..DDooststooevevskskyy,,11888811 Psychogenic Seizures Psychogenic seizures (PNES) PNES in Veterans Treatment and Prognosis *excluding headache, back pain Epilepsy Cases per 100 persons 0.2 0.4 0.6 0.8 1.2 1.4 neurologists worldwide* The most common problem faced by 0 1 Epilepsy Neuropathy Cerebrovascular Dementia ~1% of the world burden of disease (WHO) Prevalence (per 100 persons) Murray et al; WHO, 1994Singhai; Arch Neurol 1998 Kobau; MMR, August Medina; 2008 J Neurol Sci 2007 Speaec 08%Sprevalence ~0.85% US prevalence ~0.85%US Disorders that may mimic epilepsy (adults) Cardiovascular events (syncope) » Vasovagal attacks (vasodepressor syncope) » Arrhythmias (Stokes-Adams attacks) Movement disorders » Paroxysmal choreoathetosis » Myoclonus, tics, habit spasms Migraine - confusional, basilar Sleep disorders (parasomnias) Metabolic disorders (hypoglycemia) Psychological disorders » Psychogenic seizures Non-Epileptic Seizures (NES) A transient alteration in behavior resembling an epileptic seizure but not due to paroxysmal neuronal discharges; –Psychogenic Seizures (PNES) without other physiologic abnormalities with probable psychological origin Non-Epileptic Seizures (NES) Seizures Epileptic
    [Show full text]
  • ILAE Classification and Definition of Epilepsy Syndromes with Onset in Childhood: Position Paper by the ILAE Task Force on Nosology and Definitions
    ILAE Classification and Definition of Epilepsy Syndromes with Onset in Childhood: Position Paper by the ILAE Task Force on Nosology and Definitions N Specchio1, EC Wirrell2*, IE Scheffer3, R Nabbout4, K Riney5, P Samia6, SM Zuberi7, JM Wilmshurst8, E Yozawitz9, R Pressler10, E Hirsch11, S Wiebe12, JH Cross13, P Tinuper14, S Auvin15 1. Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu’ Children’s Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy 2. Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester MN, USA. 3. University of Melbourne, Austin Health and Royal Children’s Hospital, Florey Institute, Murdoch Children’s Research Institute, Melbourne, Australia. 4. Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker–Enfants Malades Hospital, APHP, Member of European Reference Network EpiCARE, Institut Imagine, INSERM, UMR 1163, Université de Paris, Paris, France. 5. Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia. Faculty of Medicine, University of Queensland, Queensland, Australia. 6. Department of Paediatrics and Child Health, Aga Khan University, East Africa. 7. Paediatric Neurosciences Research Group, Royal Hospital for Children & Institute of Health & Wellbeing, University of Glasgow, Member of European Refence Network EpiCARE, Glasgow, UK. 8. Department of Paediatric Neurology, Red Cross War Memorial Children’s Hospital, Neuroscience Institute, University of Cape Town, South Africa. 9. Isabelle Rapin Division of Child Neurology of the Saul R Korey Department of Neurology, Montefiore Medical Center, Bronx, NY USA. 10. Programme of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, London, UK 11.
    [Show full text]
  • Mesial Frontal Epilepsy
    Epikpsia, 39(Suppl. 4):S49-S61. 1998 Lippincon-Raven Publishers, Philadelphia 0 International League Against Epilepsy Mesial Frontal Epilepsy Norman K. So Oregon Comprehensive Epilepsy Program, Legacy Portland Hospitals, Portland, Oregon, U.S.A. Summary: The mesiofrontal cortex comprises a number of occur. The task of localization of the epileptogenic zone can be distinct anatomic and functional areas. Structural lesions and challenging, whether EEG or imaging methods are used. Suc- cortical dysgenesis are recognized causes of mesial frontal epi- cessful localization can lead to a rewarding outcome after epi- lepsy, but a specific gene defect may also be important, as seen lepsy surgery, particularly in those with an imaged lesion. in some forms of familial frontal lobe epilepsy. The predomi- Key Words: Mesial frontal epilepsy-cingulate gyrus- nant seizure manifestations, which are not necessarily strictly Supplementary motor area-Absence seizure-Hypermotor correlated with a specific ictal onset zone, are absence, hyper- seizure-Postural tonic seizure-Epilepsy surgery. motor, and postural tonic seizures. Other seizure types also FUNCTIONAL ANATOMY convolution. Traditional cytoarchitectonics have further subdivided this anterior frontal region. The frontal pole The frontal lobe is the largest lobe in the brain, ac- refers to the anterior most portion of the frontal lobe, but counting for one-third to one-half of total brain volume there is little consensus on how far back this extends. and weight. On the medial surface, the most important One or more curved.sulci are seen anterior and inferior to landmark is the cingulate sulcus (Fig. 1). This runs as an the cingulate sulcus, called the superior and inferior ros- inverted “C” following the contour of the corpus callo- tral sulci.
    [Show full text]
  • Treatment for Patients with Lennox-Gastaut Syndrome Roundtable
    Treatment for Patients with Lennox-Gastaut Syndrome Roundtable Video 3/5 – Diagnosis, Issues and Seizures Dr. Randa Jarrar Pediatric Epileptologist at Phoenix Children's Hospital Given the poor prognosis of Lennox-Gastaut Syndrome with regards to seizure control and cognitive outcome, it is very important to apply that term with caution. How do we go about diagnosing it and what kind of investigations do we have to do once we diagnosis it? Well, the diagnosis really relies on that classic triad of many seizure types, mental retardation, and the classic EEG features that we just went over, mainly the slow spike in wave. Some people consider the presence of ten-hertz fast activity as an essential for diagnosis. This can be either associated with atonic seizures or can occur with minimal clinical manifestations, such as apnea or perhaps truncal rigidity, that can be seen mainly during non-REM sleep. As we said, the diagnosis relies heavily on the EEG. Although it sounds easy to diagnosis since you have all these features, the features may not be very clear early at onset. Why? The cause, the history, the seizure types, the EEG features, are not pathognomonic for Lennox-Gastaut Syndrome. They are shared by other epilepsy syndromes and can occur in other seizure types. In addition, the core seizure types may not be present at onset. You can initially have focal seizure or the patient may present with myoclonic seizures, which can complicate the picture. The EEG features we talked about extensively, but I just want to emphasize that a sleep recording is almost essential, not just a sleep recording, but a video sleep recording.
    [Show full text]
  • Epileptic Spasms Are a Feature of DEPDC5 Mtoropathy
    Epileptic spasms are a feature of DEPDC5 mTORopathy Gemma L. Carvill, PhD ABSTRACT Douglas E. Crompton, Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic PhD, MBBS spasms. Brigid M. Regan, BSc Methods: We performed DEPDC5 resequencing in 130 patients with spasms, segregation anal- (Hons) ysis of variants of interest, and detailed clinical assessment of patients with possibly and likely Jacinta M. McMahon, pathogenic variants. BSc (Hons) DEPDC5 Julia Saykally Results: We identified 3 patients with variants in in the cohort of 130 patients with DEPDC5 Matthew Zemel, BS spasms. We also describe 3 additional patients with alterations and epileptic spasms: 2 Amy L. Schneider, MGen from a previously described family and a third ascertained by clinical testing. Overall, we describe DEPDC5 Couns 6 patients from 5 families with spasms and variants; 2 arose de novo and 3 were Leanne Dibbens, PhD familial. Two individuals had focal cortical dysplasia. Clinical outcome was highly variable. Katherine B. Howell, Conclusions: While recent molecular findings in epileptic spasms emphasize the contribution of de MBBS (Hons), novo mutations, we highlight the relevance of inherited mutations in the setting of a family history BMedSc of focal epilepsies. We also illustrate the utility of clinical diagnostic testing and detailed pheno- Simone Mandelstam, typic evaluation in characterizing the constellation of phenotypes associated with DEPDC5 alter- MBChB ations. We expand this phenotypic spectrum to include epileptic spasms, aligning DEPDC5 Richard J. Leventer, epilepsies more with the recognized features of other mTORopathies. Neurol Genet 2015;1:e17; MBBS, PhD doi: 10.1212/NXG.0000000000000016 A.
    [Show full text]
  • 21543-Non-Epileptic-Seizures-Versus-Frontal-Lobe-Epilepsy-In-An-Adolescent-A-Case-Report.Pdf
    Open Access Case Report DOI: 10.7759/cureus.5732 Non-epileptic Seizures versus Frontal Lobe Epilepsy in an Adolescent: A Case Report Sonia Gaur 1 1. Psychiatry, Stanford University, Stanford, USA Corresponding author: Sonia Gaur, [email protected] Abstract Multiple inpatient psychiatric hospitalizations can be due to system issues, patient complexity, family dynamics, and misdiagnoses to name a few. This study highlights a diagnostically challenging case and how that, in itself, contributed to hospital admissions. Although 18 months elapsed from the time of the initial presentation to the diagnosis of non-epileptic seizures (NES), the suspicion of the diagnosis may have been made earlier by clinicians. The evidence for seizures of post-ictal confusion followed by lethargy, amnesia for the event, and response to an anti-seizure medication only could have provided a higher index of suspicion for NES. Many health care providers will argue that this will create over-diagnoses of NES and usage of anti-epileptic medications. While reviewing the literature on NES, it was noted that frontal lobe epilepsy (FLE) causing psychiatric comorbidities has been poorly studied. Furthermore, this case highlights that within the field of child psychiatry, the same clinical presentation can be interpreted differently. This case helps us understand how eliciting clinical information to enable the timely ordering of imaging could help in diagnoses. This may help set up clinical guidelines for NES for the mental health providers to facilitate improvement in diagnoses and treatment. Categories: Neurology, Pediatrics, Psychiatry Keywords: topiramate, psychogenic non-epileptic seizures, inpatient hospitalization, nocturnal frontal lobe epilepsy, vasovagal syncope, adolescent psychiatry, conversion disorder, polypharmacy, electroencephalogram, mri Introduction Non-epileptic seizures (NES) are paroxysmal events with both objective and subjective findings with minimal to absent correlation of electroencephalogram (EEG) findings with the event [1].
    [Show full text]
  • Electroclinical Features of Lennox-Gastaut Syndrome In
    logy & N ro eu u r e o N p h f y o s l i Astencio et al., J Neurol Neurophysiol 2013, S2 a o l n o r g u y o J Journal of Neurology & Neurophysiology DOI: 10.4172/2155-9562.S2-008 ISSN: 2155-9562 Research Article Article OpenOpen Access Access Electroclinical Features of Lennox-Gastaut Syndrome in Adulthood and Adolescence Adriana Ma Goicoechea Astencio1, René Andrade Machado1*, Yudith Merayo2, Andrés Rodrigo Solarte Mila3, Martha Jiménez Jaramillo4 and Juan Felipe Alvarez Restrepo4 1National Institute of Neurology and Neurosurgery, Epilepsy Section, Cuba 2Hospital Clínico Quirúrgico de Morón, Ciego de Ávila, Cuba 3León XIII Clinic, Antioquia University, Colombia 4Neurologic Institute of Antioquia, Colombia Summary Introduction: Lennox- Gastaut Syndrome (LGS) is characterized by seizures which may have inconspicuous semiological features so they may be unrecognized while patients are continuously deteriorating. To confirm its clinical and electrographic characteristics is mandatory, which has therapeutic and prognostic implications. Those features have not been completely elucidated in LGS in adulthood. Purpose: We performed a descriptive study to investigate seizure types, interictal and ictal EEG characteristics and cognitive outcome in adult LGS subjects. Methods: We evaluated 28 cases with development impairment and several refractory seizure types, which included tonic seizures, in order to make a screening of LGS. We confirm LGS diagnosis in 24 patients older than 12 years who were assessed by video-EEG, particularly to record seizure types and EEG findings as well as cognitive outcome. Results: During this stage of the disease, all patients presented tonic seizures (TS) during wakefulness and sleep, 12/24 had atypical absences, more rarely other seizure types.
    [Show full text]
  • Genetics in Epilepsy
    Experimental Neurobiology Vol. 12, pages 71～80, December 2003 Genetics in Epilepsy Chang-Ho Yun1,* and Beom S. Jeon2 1Department of Neurology, College of Medicine, Inha University, Incheon 400-711, Korea, 2Department of Neurology, Seoul National University College of Medicine, Seoul 110-744, Korea ABSTRACT The importance of genetic contributions to the epilepsies is now well established. Mutations in over 70 genes now define biological pathways leading to the epilepsy. These mutations disrupt a very large spectrum of biologic function. Some of the in- herited errors alter the intrinisic ion channel properties directly responsible for neuronal hyperexcitability and others have impact on the brain development or cellular regulation. This paper reviews the pathogenic implications of the established genetic mutations and briefly mentioned the susceptible genes in hereditary or familial epilepsy syndrome. Key words: Genetic, epilepsy INTRODUCTION causing epilepsies. Once the abnormalities such as genes and their products are identified, it will lead Epilepsy affects more than 0.5% of the general to an understanding of how the alterations in indi- population and has a significant hereditary compo- vidual neuronal or neural network properties cause nent. Twin studies that report concordance rates epilepsy (Delgado-Escueta et al., 1994). Probably consistently higher in monozygotic (MZ) than in di- less than 1% of patients with epilepsy are found to zygotic (DZ) twins provides strong support for a ge- have a seizure disorder caused by a single gene netic role in epilepsy (Berkovic et al., 1998). Con- mutation. The vast majority of epilepsy cases are cordance rates ranged from 10.8% in MZ pairs with considered complex traits, a combination of environ- acquired brain injuries to 70% in those without these mental factors and multiple genetic influences.
    [Show full text]
  • Epilepsy with Migrating Focal Seizures KCNT1 Mutation Hotspots and Phenotype Variability
    ARTICLE OPEN ACCESS Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability Giulia Barcia, MD, PhD, Nicole Chemaly, MD, PhD, Mathieu Kuchenbuch, MD, PhD, Monika Eisermann, MD, Correspondence St´ephanie Gobin-Limballe, PhD, Viorica Ciorna, MD, Alfons Macaya, MD, Laetitia Lambert, MD, Dr. Nabbout [email protected] Fanny Dubois, MD, Diane Doummar, MD, Thierry Billette de Villemeur, MD, PhD, Nathalie Villeneuve, MD, Marie-Anne Barthez, MD, Caroline Nava, MD, PhD, Nathalie Boddaert, MD, PhD, Anna Kaminska, MD, PhD, Nadia Bahi-Buisson, MD, PhD, Mathieu Milh, MD, PhD, St´ephane Auvin, MD, PhD, Jean-Paul Bonnefont, MD, PhD, and Rima Nabbout, MD, PhD Neurol Genet 2019;5:e363. doi:10.1212/NXG.0000000000000363 Abstract Objective To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies’ efficacy including quinidine. Methods We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and KCNT1 mutations, in collaboration with the network of the French reference center for rare epilepsies. Results The mean seizure onset age was 1 month (range: 1 hour to 4 months), and all children had focal motor seizures with autonomic signs and migrating ictal pattern on EEG. Three children also had infantile spasms and hypsarrhythmia. The identified KCNT1 variants clustered as “hot spots” on the C-terminal domain, and all mutations occurred de novo except the p.R398Q mutation inherited from the father with nocturnal frontal lobe epilepsy, present in 2 paternal uncles, one being asymptomatic and the other with single tonic-clonic seizure.
    [Show full text]
  • Frontal-Temporal-Lobe-Epilepsy.Pdf
    Epilepsy & Behavior 99 (2019) 106487 Contents lists available at ScienceDirect Epilepsy & Behavior journal homepage: www.elsevier.com/locate/yebeh Are frontal and temporal lobe epilepsy dissociable in their memory functioning? Michelle Y. Kibby a,⁎, Morris J. Cohen b, Lisa Stanford c, Yong D. Park d a Southern Illinois University, Department of Psychology, LSII, Room 281, Carbondale, IL 62901-6502, USA b Pediatric Neuropsychology International, 2963 Foxhall Circle, Augusta, GA 30907, USA c NeuroDevelopmental Science Center, Akron Children's Hospital, Considine Professional Building, 215 W. Bowery St., Suite 4400, Akron, OH 44308, United States of America d Department of Neurology, Medical College of Georgia at Augusta University Children's Medical Center, 1446 Harper Street, Augusta, GA 30912, USA article info abstract Article history: There is controversy in the literature as to how dissociable frontal lobe epilepsy (FLE) and temporal lobe epilepsy Received 15 April 2019 (TLE) are in terms of memory deficits. Some researchers have demonstrated that FLE is associated with greater Revised 6 August 2019 executive dysfunction including working memory, whereas TLE is associated with greater memory impairment. Accepted 6 August 2019 Others have found the two groups to be comparable in memory functioning. Hence, we examined this question in Available online xxxx children with FLE and TLE versus typically developing controls. We found most of the expected effects when the groups with focal onset epilepsy were compared to controls. Specifically, children with left TLE performed worse Keywords: Temporal lobe epilepsy on verbal short-term memory/learning and long-term memory measures. In contrast, children with right TLE ex- Frontal lobe epilepsy hibited a more global pattern of difficulty on short-term memory/learning measures but performed worse than Working memory controls on long-term memory for faces.
    [Show full text]