3D figure of epilepsy syndromes

We propose an instructive figure that summarized the classification of epilepsy syndromes according to the 2022 report of the ILAE Task Force on Nosology and Definitions. Our aim is to present, in one figure, different concepts such as the names of epilepsy syndromes, their extreme and classical ages of onset, their epilepsy types (generalized, focal or generalized and focal) but also their membership in groups of epilepsy syndromes as for self-limited or developmental and epileptic encephalopathy. With this figure, we provided an interactive tool, as supplementary data, helping to present this classification and link it to electro-clinical mandatory, alerts and exclusionary criteria of each syndrome, in accordance with the ILAE position papers on syndromes classification and nosology. This report may be used as an illustrative tool for teaching epilepsy syndromes and as a practical and comprehensive aid for the classification of epilepsy individuals' syndromes

Stiripentol in D ravet syndrome: Results of a retrospective U . S . study

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/100157/1/epi12303.pd

Response: Do all individuals with Dravet syndrome have intellectual disability?

No abstract available

The role of new medical treatments for the management of developmental and epileptic encephalopathies: Novel concepts and results

Developmental and epileptic encephalopathies (DEEs) are among the most chal- lenging of all epilepsies to manage, given the exceedingly frequent and often severe seizure types, pharmacoresistance to conventional antiseizure medications, and nu- merous comorbidities. During the past decade, efforts have focused on development of new treatment options for DEEs, with several recently approved in the United States or Europe, including cannabidiol as an orphan drug in Dravet and Lennox– Gastaut syndromes and everolimus as a possible antiepileptogenic and precision drug for tuberous sclerosis complex, with its impact on the mammalian target of rapamycin pathway. Furthermore, fenfluramine, an old drug, was repurposed as a novel therapy in the treatment of Dravet syndrome. The evolution of new insights into pathophysi- ological processes of various DEEs provides possibilities to investigate novel and repurposed drugs and to place them into the context of their role in future manage- ment of these patients. The purpose of this review is to provide an overview of these new medical treatment options for the DEEs and to discuss the clinical implications of these results for improved treatment.C.J.L. has received an educational grant from GW Pharma and a speaker's honorarium from Eisai. H.P. has received research funding, consulting fees, and speaker's honoraria from Zogenix, Eisai, Bial, Roche, and MSD. S.A. has served as a consultant for or received honoraria for lectures from Arvelles, Eisai, GW Pharma, Lundbeck, Nutricia, UCB Pharma, Xenon, and Zogenix. He has been an investigator for clinical trials for Advicenne Pharma, Eisai, UCB Pharma, and Zogenix, and is an associate editor of Epilepsia. J.M.W. is an associate editor of Epilepsia. S.I.J. has no conflicts of interest to disclose. D.K.-N.T. has received research funding and consulting fees from UCB Pharma, GW Pharma, and Otsuka Pharma. E.C.W. has received consulting fees from Biocodex.publishedVersio

Use of Complementary and Alternative Medical Therapies in a Pediatric Neurology Clinic

ABSTRACT:Background:Complementary and alternative medicine (CAM) is increasingly used in adults and children. Studies on CAM in neurological disorders have focused on the adult population and its use among pediatric neurology patients has not been well characterized.Objectives:The purpose of this study was: 1) To characterize the prevalence of CAM in pediatric neurology patients; 2) To determine the perceived effectiveness of CAM in these children; 3) To compare the cost of CAM with conventional therapies; and 4) To describe caregiver or patient-related variables associated with the use of CAM.Methods:This was a cross-sectional survey of patients and families attending the Alberta Children's Hospital neurology clinic between February and May 2004. Patients were considered eligible if they were between two and 18 years of age and had a known history of neurological disorders. Caregivers completed several self-administered questionnaires regarding their socio-demographic profile, their child's neurological illness, and their experience with CAM. Caregivers also rated their child's quality of life using the Pediatric Quality of Life Inventory.Results:One hundred and five of 228 (46%) families completed the survey. The mean age of the neurology patients was 9.8 ± 4.5 years. Forty-six (44%) out of 105 patients received one or more types of CAM, with the most common types being chiropractic manipulations (15%), dietary therapy (12%), herbal remedies (8%), homeopathy (8%), and prayer/faith healing (8%). Caregivers' sociodemographic variables or pediatric health-related quality of life were not significantly associated with the use of CAM. Fifty-nine percent of CAM users reported benefits, and only one patient experienced side effects. There was no significant difference in the total median cost of CAM compared to conventional therapies ($31.70 vs.$50.00 per month). Caregivers' personal experience or success stories from friends and media were common reasons for trying CAM.Conclusions:The use of CAM was common among pediatric neurology patients. Over half of the families reported benefits with CAM, and side effects were perceived to be few. Physicians should initiate discussion on CAM during clinic visits so that the families and patients can make informed decisions about using CAM. Further studies should address the specific role of CAM in children with neurological disorders, and to determine the potential interactions between CAM and conventional therapies in these patients.</jats:sec

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

The International League Against Epilepsy (ILAE) Task Force on Nosology andDefinitions proposes a classification and definition of epilepsy syndromes in theneonate and infant with seizure onset up to 2 years of age. The incidence of epi-lepsy is high in this age group and epilepsy is frequently associated with significantcomorbidities and mortality. The licensing of syndrome specific antiseizure medi-cations following randomized controlled trials and the development of precision,gene- related therapies are two of the drivers defining the electroclinical pheno-types of syndromes with onset in infancy. The principal aim of this proposal, con-sistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsydiagnosis and emphasize the importance of classifying epilepsy in an individualboth by syndrome and etiology. For each syndrome, we report epidemiology, clini-cal course, seizure types, electroencephalography (EEG), neuroimaging, genetics,and differential diagnosis. Syndromes are separated into self- limited syndromes,where there is likely to be spontaneous remission and developmental and epilep-tic encephalopathies, diseases where there is developmental impairment related toboth the underlying etiology independent of epileptiform activity and the epilep-tic encephalopathy. The emerging class of etiology- specific epilepsy syndromes,where there is a specific etiology for the epilepsy that is associated with a clearlydefined, relatively uniform, and distinct clinical phenotype in most affected in-dividuals as well as consistent EEG, neuroimaging, and/or genetic correlates, ispresented. The number of etiology- defined syndromes will continue to increase,and these newly described syndromes will in time be incorporated into this clas-sification. The tables summarize mandatory features, cautionary alerts, and exclu-sionary features for the common syndromes. Guidance is given on the criteria forsyndrome diagnosis in resource- limited regions where laboratory confirmation,including EEG, MRI, and genetic testing, might not be available

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Epilepsy syndromes have been recognized for \u3e50 years, as distinct electroclini-cal phenotypes with therapeutic and prognostic implications. Nonetheless, noformally accepted International League Against Epilepsy (ILAE) classification ofepilepsy syndromes has existed. The ILAE Task Force on Nosology and Definitionswas established to reach consensus regarding which entities fulfilled criteria for anepilepsy syndrome and to provide definitions for each syndrome. We defined an ep-ilepsy syndrome as “a characteristic cluster of clinical and electroencephalographicfeatures, often supported by specific etiological findings (structural, genetic, met-abolic, immune, and infectious).” The diagnosis of a syndrome in an individualwith epilepsy frequently carries prognostic and treatment implications. Syndromesoften have age- dependent presentations and a range of specific comorbidities. Thispaper describes the guiding principles and process for syndrome identification inboth children and adults, and the template of clinical data included for each syn-drome. We divided syndromes into typical age at onset, and further characterizedthem based on seizure and epilepsy types and association with developmental and/or epileptic encephalopathy or progressive neurological deterioration. Definitionsfor each specific syndrome are contained within the corresponding position papers

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

The 2017 International League Against Epilepsy classification has defined a three- tiersystem with epilepsy syndrome identification at the third level. Although a syndromecannot be determined in all children with epilepsy, identification of a specific syn-drome provides guidance on management and prognosis. In this paper, we describethe childhood onset epilepsy syndromes, most of which have both mandatory seizuretype(s) and interictal electroencephalographic (EEG) features. Based on the 2017Classification of Seizures and Epilepsies, some syndrome names have been updatedusing terms directly describing the seizure semiology. Epilepsy syndromes beginningin childhood have been divided into three categories: (1) self- limited focal epilepsies,comprising four syndromes: self- limited epilepsy with centrotemporal spikes, self-limited epilepsy with autonomic seizures, childhood occipital visual epilepsy, andphotosensitive occipital lobe epilepsy; (2) generalized epilepsies, comprising three syn-dromes: childhood absence epilepsy, epilepsy with myoclonic absence, and epilepsywith eyelid myoclonia; and (3) developmental and/or epileptic encephalopathies,comprising five syndromes: epilepsy with myoclonic– atonic seizures, Lennox– Gastautsyndrome, developmental and/or epileptic encephalopathy with spike- and- wave acti-vation in sleep, hemiconvulsion– hemiplegia– epilepsy syndrome, and febrile infection-related epilepsy syndrome. We define each, highlighting the mandatory seizure(s),EEG features, phenotypic variations, and findings from key investigations

La Convention européenne des droits de l'homme, la Charte des droits fondamentaux de l'Union européenne et la problématique de l'adhésion de l'Union européenne à la Convention

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 newly diagnosed patients were combined. Causes of death were classified as seizure related (including sudden unexpected death [SUDEP]), natural causes, nonnatural causes, and unknown. RESULTS: 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. CONCLUSIONS: 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 seizurerelated mortality with patients and families. Pediatrics 2013;132:124-131. Copyrigh

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense SCN1A mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9; for the remaining case, the mother was negative and the father was unavailable. CONCLUSIONS: Here, we present a phenotype-genotype correlation for SCN1A. We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met