{"orpha":64280,"name":"Childhood absence epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pyknolepsy"],"definition":"An idiopathic generalized epilepsy characterized by the appearance in an otherwise healthy child of multiple per day typical absence seizures. Epilepsy remits in the majority of children, at later by early adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64280/","orphanet_url":"https://www.orpha.net/en/disease/detail/64280","names":{"fr":{"name":"Epilepsie-absence de l'enfance","synonyms":["Pycnolepsie"],"definition":"Épilepsie généralisée idiopathique caractérisée par des crises d'absence typiques survenant plusieurs fois par jour chez un enfant par ailleurs en bonne santé. Chez la majorité des enfants l'épilepsie évolue vers une guérison spontanée au plus tard au début de l'adolescence."},"de":{"name":"Absencen-Epilepsie des Kindesalters","synonyms":["Pyknolepsie"],"definition":"Eine idiopathische generalisierte Epilepsie, die dadurch gekennzeichnet ist, dass bei einem ansonsten gesunden Kind mehrmals täglich typische Absence-Anfälle auftreten. Die Epilepsie bildet sich bei der Mehrheit der Kinder zurück, später bis zum frühen Jugendalter."},"es":{"name":"Epilepsia de ausencia infantil","synonyms":["Picnolepsia"],"definition":"Es una epilepsia idiopática generalizada caracterizada por la aparición en un niño, sin otra manifestación clínica, de múltiples crisis de ausencia típicas al día. En la mayoría de los niños, la epilepsia remite en la adolescencia temprana."},"it":{"name":"Epilessia con assenze dell'infanzia","definition":"L'epilessia con assenza dell'infanzia (CAE) è un'epilessia familiare pediatrica generalizzata, caratterizzata da crisi di assenza molto frequenti (diverse crisi al giorno), che di solito esordiscono nei bambini di età compresa tra i 4 e i 10 anni. Nella maggior parte dei casi la prognosi è favorevole."},"nl":{"name":"Absence-epilepsie in de kindertijd","synonyms":["Pyknolepsie"],"definition":"Een idiopathische gegeneraliseerde epilepsie, gekenmerkt door het optreden van meerdere typische absences per dag bij een voor het overige gezond kind. Epilepsie verdwijnt bij de meerderheid van de kinderen, ten laatste tegen de vroege adolescentie."},"pt":{"name":"Epilepsia de ausências infantil"},"pl":{"name":"Dziecięca padaczka nieświadomości","synonyms":["Piknolepsja"]},"cs":{"name":"Dětská epilepsie s absencemi","synonyms":["Pyknolepsie"]},"uk":{"name":"Дитяча абсансна епілепсія","synonyms":["Пікнолепсія"],"definition":"Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis."},"zh":{"name":"儿童失神癫痫","synonyms":["癫痫小发作"]},"tr":{"name":"Çocukluk çağı absans epilepsisi","synonyms":["Piknolepsi"]}},"xrefs":[{"source":"OMIM","code":"600131","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611136","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611942","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612269","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A61.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"726403046"},{"source":"MONDO","code":"0010826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4281785","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":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"CACNA1H","name":"calcium voltage-gated channel subunit alpha1 H","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12891677[PMID]","hgnc":"1395","ensembl":"ENSG00000196557","omim":"607904","loci":["16p13.3"]},{"symbol":"GABRA1","name":"gamma-aminobutyric acid type A receptor subunit alpha1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"16718694[PMID]","hgnc":"4075","ensembl":"ENSG00000022355","omim":"137160","loci":["5q34"]},{"symbol":"GABRG2","name":"gamma-aminobutyric acid type A receptor subunit gamma2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"4087","ensembl":"ENSG00000113327","omim":"137164","loci":["5q34"]},{"symbol":"JRK","name":"Jrk helix-turn-helix protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11463517[PMID]","hgnc":"6199","ensembl":"ENSG00000234616","omim":"603210","loci":["8q24.3"]},{"symbol":"GABRB3","name":"gamma-aminobutyric acid type A receptor subunit beta3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18514161[PMID]_20550555[PMID]","hgnc":"4083","ensembl":"ENSG00000166206","omim":"137192","loci":["15q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"United States","status":"Validated","source":"24668022[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-28","source":"24530152[PMID]_27683026[PMID]_11326275[PMID]_2502382[PMID]","terms":[{"hpo":"HP:0010848","label":"EEG with spike-wave complexes (2.5-3.5 Hz)","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","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:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031469","label":"Low self esteem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011150","label":"Myoclonic absence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030218","label":"Punding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007738","label":"Uncontrolled eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006961","label":"Jerky head movements","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null}]}}