{"orpha":2382,"name":"Lennox-Gastaut syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2382/","orphanet_url":"https://www.orpha.net/en/disease/detail/2382","names":{"fr":{"name":"Syndrome de Lennox-Gastaut","definition":"Encéphalopathie épileptique rare, sévère et précoce, caractérisée par une triade de déficience intellectuelle, de multiples types de crises convulsives et d'anomalies typiques de l'électroencéphalographie (EEG)."},"de":{"name":"Lennox-Gastaut-Syndrom","synonyms":["Lennox-Enzephalopathie"],"definition":"Eine schwerwiegende früh einsetzende epileptische Entwicklungsenzephalopathie, die durch die Trias aus intellektueller Beeinträchtigung, multiplen Anfallstypen und typischen Elektroenzephalographie-Anomalien (EEG) gekennzeichnet ist."},"es":{"name":"Síndrome de Lennox-Gastaut","definition":"Es una encefalopatía epiléptica del desarrollo poco frecuente, grave y de inicio temprano, caracterizada por la tríada de deficiencia intelectual, múltiples tipos de crisis epilépticas y anomalías características en el electroencefalograma (EEG)."},"it":{"name":"Sindrome di Lennox-Gastaut","definition":"La sindrome di Lennox-Gastaut (LGS) è un'encefalopatia epilettica e dello sviluppo grave e rara, ad esordio precoce, caratterizzata dalla triade deficit intellettivo, crisi epilettiche multiple e anomalie elettroencefalografiche tipiche."},"nl":{"name":"Syndroom van Lennox-Gastaut","definition":"Een zeldzame, ernstige, vroeg optredende ontwikkelings- en epileptische encefalopathie, gekenmerkt door de triade van intellectuele stoornis, meerdere types van insulten, en typische afwijkingen bij elektro-encefalografie (EEG)."},"pt":{"name":"Síndrome Lennox-Gastaut"},"pl":{"name":"Zespół Lennoxa i Gastauta"},"cs":{"name":"Lennoxův-Gastautův syndrom","synonyms":["Lennox-Gastautův syndrom"]},"uk":{"name":"Синдром Леннокса-Гасто","definition":"A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities."},"zh":{"name":"Lennox-Gastaut综合征"},"tr":{"name":"Lennox-Gastaut sendromu"}},"xrefs":[{"source":"OMIM","code":"615369","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616346","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617113","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618141","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A62.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"651135242"},{"source":"MONDO","code":"0016532","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238111","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9912","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[156,181]},{"orpha":98749,"name":"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect","classifications":[156]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MAPK10","name":"mitogen-activated protein kinase 10","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"16249883[PMID]","hgnc":"6872","ensembl":"ENSG00000109339","omim":"602897","loci":["4q21.3"]},{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"31468518[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]},{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31468518[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]},{"symbol":"CHD2","name":"chromodomain helicase DNA binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23708187[PMID]","hgnc":"1917","ensembl":"ENSG00000173575","omim":"602119","loci":["15q26.1"]},{"symbol":"CUX2","name":"cut like homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29630738[PMID]","hgnc":"19347","ensembl":"ENSG00000111249","omim":"610648","loci":["12q24.11-q24.12"]},{"symbol":"DNM1","name":"dynamin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25262651[PMID]_25533962[PMID]","hgnc":"2972","ensembl":"ENSG00000106976","omim":"602377","loci":["9q34.11"]},{"symbol":"GABRB3","name":"gamma-aminobutyric acid type A receptor subunit beta3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23934111[PMID]_27476654[PMID]","hgnc":"4083","ensembl":"ENSG00000166206","omim":"137192","loci":["15q12"]},{"symbol":"SCN1A","name":"sodium voltage-gated channel alpha subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17347258[PMID]_20301494[PMID]_19782004[PMID]","hgnc":"10585","ensembl":"ENSG00000144285","omim":"182389","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial","Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Europe","status":"Validated","source":"[EXPERT]_European Medicines Agency 2004[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-06","source":"30422560[PMID]_25284032[PMID]_26093133[PMID]_26166587[PMID]_26513494[PMID]","terms":[{"hpo":"HP:0011195","label":"EEG with focal sharp slow waves","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012075","label":"Personality disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}