{"orpha":86911,"name":"Epilepsy with myoclonic absences","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86911/","orphanet_url":"https://www.orpha.net/en/disease/detail/86911","names":{"fr":{"name":"Epilepsie avec absences myocloniques","definition":"Syndrome épileptique rare de l'enfance caractérisé par la survenue soudaine d'une absence de courte durée, associée à des myoclonies rythmées de la tête et des épaules."},"de":{"name":"Epilepsie mit myoklonischen Absencen","definition":"Eine seltene Epilepsie im Kindesalter, die durch eine plötzlich auftretende, kurz andauernde Abwesenheit in Verbindung mit rhythmischer Myoklonie von Kopf und Schultern gekennzeichnet ist."},"es":{"name":"Epilepsia con ausencias mioclónicas","definition":"Es una epilepsia poco frecuente de inicio en la infancia caracterizada por un inicio repentino, con ausencias de corta duración asociadas con mioclonía rítmica de cabeza y hombros."},"it":{"name":"Epilessia con assenze miocloniche","definition":"Si tratta di un'epilessia rara ad esordio infantile, che si manifesta improvvisamente con assenze di breve durata associate a scosse miocloniche ritmiche che interessano la testa e le spalle."},"nl":{"name":"Epilepsie met myoclonische absences","definition":"Een zeldzame epilepsie met aanvang in de kindertijd, gekenmerkt door plots optredende, kortdurende absence geassocieerd met ritmische myoclonie van hoofd en schouders."},"pt":{"name":"Epilepsia com ausências mioclónicas","definition":"Epilepsia rara com início na infância caracterizada por início súbito do quadro clínico, ausências de curta duração associadas a mioclonia rítmica da cabeça e ombros."},"pl":{"name":"Padaczka z miokloniczna z napadami nieświadomości"},"cs":{"name":"Epilepsie s myoklonickými absencemi"},"uk":{"name":"Епілепсія з міоклонічними абсансами","definition":"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders."},"zh":{"name":"肌阵挛失神性癫痫"},"tr":{"name":"Miyoklonik absanslar ile seyreden epilepsi"}},"xrefs":[{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.23","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"274380122"},{"source":"MONDO","code":"0019487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393703","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":306759,"name":"Non progressive epilepsy and/or ataxia with myoclonus as a major feature","classifications":[181]}],"children":[],"genes":[{"symbol":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26193382[PMID]","hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[],"phenotypes":null}