{"orpha":352582,"name":"Familial infantile myoclonic epilepsy","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["FIME","Familial infantile myoclonus epilepsy"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Myoclonic epilepsy of infancy","url":"https://raremap.alftech.space/d/ORPHA-352582/","orphanet_url":"https://www.orpha.net/en/disease/detail/352582","names":{"fr":{"name":"Epilepsie myoclonique infantile familiale","synonyms":["FIME"]},"de":{"name":"Myoklonusepilepsie, infantile familiäre","synonyms":["FIME"]},"es":{"name":"Epilepsia mioclónica familiar del lactante","synonyms":["FIME"]},"it":{"name":"Epilessia mioclonica infantile familiare","synonyms":["FIME"]},"nl":{"name":"Familiale infantiele myoclonische epilepsie","synonyms":["FIME"]},"pt":{"name":"Epilepsia mioclónica familiar da infância","synonyms":["FIME"]},"pl":{"name":"Rodzinna dziecięca padaczka miokloniczna","synonyms":["FIME"]},"cs":{"name":"Familiární infantilní myoklonická epilepsie","synonyms":["FIME","Familiární kojenecká myoklonická epilepsie"]},"uk":{"name":"Сімейна інфантильна міоклонічна епілепсія","synonyms":["Сімейна інфантильна міоклонусна епілепсія","FIME"],"definition":"A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability."},"zh":{"name":"家族性婴儿肌阵挛性癫痫","synonyms":["家族性婴儿肌阵挛癫痫"],"definition":"一种罕见的遗传性婴儿癫痫综合征，其特征为新生儿至婴儿期起病的肌阵挛性局灶性癫痫发作，可见于同一家族的多个成员，部分患者有轻度构音障碍、共济失调和边缘性至中度智力障碍。"},"tr":{"name":"Ailesel infantil miyoklonik epilepsi","synonyms":["FIME","Ailesel infantil miyoklonus epilepsisi"]}},"xrefs":[{"source":"MONDO","code":"0011506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":86909,"name":"Myoclonic epilepsy of infancy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}