{"orpha":1941,"name":"Juvenile absence epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JAE"],"definition":"Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1941/","orphanet_url":"https://www.orpha.net/en/disease/detail/1941","names":{"fr":{"name":"Epilepsie-absence juvénile","synonyms":["EAJ"],"definition":"Une épilepsie génétique apparaissant autour de la puberté. Elle est caractérisée par la survenue sporadique de crises d'absence, fréquemment associées à des crises tonico-cloniques généralisées et des saccades myocloniques sporadiques, avec une prévalence vie-entière."},"de":{"name":"Absencen-Epilepsie, juvenile","synonyms":["Epilepsia minor juvenilis"],"definition":"Die juvenile Absencen-Epilepsie (JAE) ist eine genetisch bedingte Epilepsie mit Erstmanifestationsalter meist während der Pubertät. Charakteristisch sind sporadische Absencen, die häufig mit dem Auftreten von generalisierten tonisch-klonischen Anfällen und sporadischen Myoklonien verbunden sind."},"es":{"name":"Epilepsia de ausencia juvenil","definition":"La epilepsia de ausencia juvenil (EAJ) es una epilepsia genética de inicio en la pubertad. Se caracteriza por eventos esporádicos con crisis de ausencia, con frecuencia asociados con una presencia de por vida de crisis tónico-clónicas generalizadas (CTCG) y sacudidas mioclónicas esporádicas."},"it":{"name":"Epilessia con assenze del giovane","definition":"L'epilessia giovanile con assenze (JAE) è un'epilessia genetica che esordisce verso la pubertà ed è caratterizzata da crisi di assenza sporadiche, spesso associate, nel corso della vita, a convulsioni generalizzate tonico-cloniche (GTCS) e sussulti mioclonici sporadici."},"nl":{"name":"Juveniele absence-epilepsie","synonyms":["JAE"],"definition":"Juveniele absence-epilepsie (JAE) is een genetische epilepsie die aanvangt rond de puberteit. JAE wordt gekarakteriseerd door sporadisch voorkomen van absences, frequent geassocieerd met een levenslange prevalentie van gegeneraliseerde tonisch-clonische insulten (GTCI) en sporadische myoclonische aanvallen."},"pt":{"name":"Epilepsia de ausências juvenil"},"pl":{"name":"Młodzieńcza padaczka z napadami nieświadomości","synonyms":["JAE"],"definition":"Młodzieńcza padaczka z napadami nieświadomości to genetycznie uwarunkowana padaczka, która ujawnia się w okresie dojrzewania. Charakteryzuje się sporadycznym występowaniem drgawek z napadów nieświadomości. Często występują uogólnione napady toniczno-kloniczne oraz sporadyczne szarpnięcia miokloniczne, które mogą pojawiać się przez całe życie."},"cs":{"name":"Juvenilní absence","synonyms":["JAE"]},"uk":{"name":"Ювенільна абсансна епілепсія","synonyms":["JAE"],"definition":"Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks."},"zh":{"name":"青少年失神癫痫","synonyms":["JAE"]},"tr":{"name":"Jüvenil absans epilepsi","synonyms":["JAE"]}},"xrefs":[{"source":"OMIM","code":"607631","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"519416529"},{"source":"MONDO","code":"0011876","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11876","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"800453","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4317339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2162","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085031","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EFHC1","name":"EF-hand domain containing 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17159113[PMID]","hgnc":"16406","ensembl":"ENSG00000096093","omim":"608815","loci":["6p12.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Unknown"],"onset":["Adolescent"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Europe","status":"Validated","source":"8275976[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_Dr Gabrielle Rudolf[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-28","source":"37714126[PMID]_32644481[PMID]_7964917[PMID]_16970883[PMID]","terms":[{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null}]}}