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

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

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

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

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-tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a specific syndrome provides guidance on management and prognosis. In this paper, we describe the childhood onset epilepsy syndromes, most of which have both mandatory seizure type(s) and interictal electroencephalographic (EEG) features. Based on the 2017 Classification of Seizures and Epilepsies, some syndrome names have been updated using terms directly describing the seizure semiology. Epilepsy syndromes beginning in 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, and photosensitive occipital lobe epilepsy; (2) generalized epilepsies, comprising three syndromes: childhood absence epilepsy, epilepsy with myoclonic absence, and epilepsy with eyelid myoclonia; and (3) developmental and/or epileptic encephalopathies, comprising five syndromes: epilepsy with myoclonic-atonic seizures, Lennox-Gastaut syndrome, developmental and/or epileptic encephalopathy with spike-and-wave activation 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

Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome

Background: Cannabidiol has been used for treatment-resistant seizures in patients with severe early-onset epilepsy. We investigated the efficacy and safety of cannabidiol added to a regimen of conventional antiepileptic medication to treat drop seizures in patients with the Lennox–Gastaut syndrome, a severe developmental epileptic encephalopathy. Methods: In this double-blind, placebo-controlled trial conducted at 30 clinical centers, we randomly assigned patients with the Lennox–Gastaut syndrome (age range, 2 to 55 years) who had had two or more drop seizures per week during a 28-day baseline period to receive cannabidiol oral solution at a dose of either 20 mg per kilogram of body weight (20-mg cannabidiol group) or 10 mg per kilogram (10-mg cannabidiol group) or matching placebo, administered in two equally divided doses daily for 14 weeks. The primary outcome was the percentage change from baseline in the frequency of drop seizures (average per 28 days) during the treatment period. Results: A total of 225 patients were enrolled; 76 patients were assigned to the 20-mg cannabidiol group, 73 to the 10-mg cannabidiol group, and 76 to the placebo group. During the 28-day baseline period, the median number of drop seizures was 85 in all trial groups combined. The median percent reduction from baseline in drop-seizure frequency during the treatment period was 41.9% in the 20-mg cannabidiol group, 37.2% in the 10-mg cannabidiol group, and 17.2% in the placebo group (P=0.005 for the 20-mg cannabidiol group vs. placebo group, and P=0.002 for the 10-mg cannabidiol group vs. placebo group). The most common adverse events among the patients in the cannabidiol groups were somnolence, decreased appetite, and diarrhea; these events occurred more frequently in the higher-dose group. Six patients in the 20-mg cannabidiol group and 1 patient in the 10-mg cannabidiol group discontinued the trial medication because of adverse events and were withdrawn from the trial. Fourteen patients who received cannabidiol (9%) had elevated liver aminotransferase concentrations. Conclusions: Among children and adults with the Lennox–Gastaut syndrome, the addition of cannabidiol at a dose of 10 mg or 20 mg per kilogram per day to a conventional antiepileptic regimen resulted in greater reductions in the frequency of drop seizures than placebo. Adverse events with cannabidiol included elevated liver aminotransferase concentrations. (Funded by GW Pharmaceuticals; GWPCARE3 ClinicalTrials.gov number, NCT02224560.

Response to treatment in a prospective national infantile spasms cohort

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/134499/1/ana24594.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134499/2/ana24594_am.pd