{"orpha":435438,"name":"Progressive myoclonic epilepsy type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM7","MEAK","Myoclonus epilepsy and ataxia due to potassium channel mutation","PME type 7","Progressive myoclonic epilepsy due to KV3.1 deficiency","Progressive myoclonus epilepsy type 7"],"definition":"A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435438/","orphanet_url":"https://www.orpha.net/en/disease/detail/435438","names":{"fr":{"name":"Epilepsie myoclonique progressive type 7","synonyms":["EMP type 7","EPM7","Epilepsie myoclonique progressive par déficit en KV3.1","MEAK","PME type 7"],"definition":"Maladie neurologique génétique rare, caractérisée par l'apparition pendant l'enfance ou l'adolescence d'une myoclonie progressive (qui devient très sévère et entraîne une incapacité motrice majeure), associée à des crises tonicocloniques peu fréquentes et, parfois, à une ataxie. Des difficultés d'apprentissage avant l'apparition des crises et un léger déclin cognitif peuvent être associés."},"de":{"name":"Myoklonusepilepsie, progressive, Typ 7","synonyms":["EPM7","MEAK","Myoklonusepilepsie und Ataxie durch Kaliumkanaldefekt","Myoklonusepilepsie, progressive, durch KV3.1-Mangel","PME Typ 7"]},"es":{"name":"Epilepsia mioclónica progresiva tipo 7","synonyms":["Epilepsia con mioclonías y ataxia por una mutación en el canal del potasio","Epilepsia mioclónica progresiva por deficiencia de KV3.1","Epilepsia progresiva con mioclonías tipo 7","MEAK","EMP tipo 7","EPM7"],"definition":"Es un trastorno neurológico poco frecuente de origen genético caracterizado por mioclonía progresiva de inicio en la infancia o en la adolescencia (que llega a ser muy grave, ocasionando considerables impedimentos motores) asociado a crisis tónico-clónicas infrecuentes y, ocasionalmente, a ataxia. También puede asociar dificultades de aprendizaje previas a la aparición de las crisis y un leve deterioro cognitivo."},"it":{"name":"Epilessia mioclonica progressiva, tipo 7","synonyms":["EPM7","Epilessia mioclonica e atassia da mutazione del canale di potassio","Epilessia mioclonica progressiva da deficit di KV3.1","Epilessia progressiva con mioclonie, tipo 7","MEAK","PME, tipo 7"],"definition":"È una malattia neurologica rara di origine genetica, che esordisce nell'infanzia o nell'adolescenza con mioclono progressivo (che diventa molto grave e causa importanti deficit motori), raramente associata a crisi epilettiche toniche-cloniche e atassia. I pazienti possono presentare difficoltà di apprendimento prima dell'insorgenza delle crisi epilettiche ed un lieve declino cognitivo."},"nl":{"name":"Progressieve myoclonische epilepsie type 7","synonyms":["EPM7","MEAK","Myoclonusepilepsie en ataxie door kaliumkanaalmutatie","PME type 7","Progressieve myoclonische epilepsie door KV3.1-deficiëntie","Progressieve myoclonusepilepsie type 7"],"definition":"Een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door aanvang in de kindertijd tot adolescentie van progressieve myoclonus (die zeer ernstig wordt en leidt tot ernstige motorische handicap), geassocieerd met sporadische tonisch-clonische insulten, en, occasioneel, ataxie. Leermoeilijkheden voorafgaand aan aanvang van insulten en milde cognitieve aftakeling kunnen ook geassocieerd zijn."},"pt":{"name":"Epilepsia mioclónica progressiva, tipo 7"},"pl":{"name":"Postępująca padaczka miokloniczna typu 7","synonyms":["EPM7","MEAK","Padaczka miokloniczna i ataksja spowodowane mutacją kanału potasowego","PME typu 7","Postępująca padaczka miokloniczna spowodowana niedoborem KV3.1"]},"cs":{"name":"Progresivní myoklonická epilepsie, typ 7","synonyms":["EPM7","MEAK","PME typ 7","Myoklonická epilepsie a ataxie způsobená mutací v draslíkovém kanálu","Progresivní myoklonická epilepsie způsobená deficitem KV3.1"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 7","synonyms":["EPM7","MEAK","Міоклонусна епілепсія та атаксія внаслідок мутації калієвих каналів","PME тип 7","Прогресуюча міоклонічна епілепсія внаслідок дефіциту KV3.1","Прогресуюча міоклонусна епілепсія типу 7"],"definition":"A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated."},"zh":{"name":"进行性肌阵挛性癫痫7型","synonyms":["钾通道突变导致肌阵挛性癫痫和共济失调"],"definition":"一种罕见的遗传性神经系统疾病，其特征是儿童期至青春期发作的进行性肌阵挛发作（症状可进展至十分严重的程度导致主要运动功能障碍），伴有强直性阵挛性癫痫发作，偶发性共济失调。学习障碍可出现在癫痫发作之前，并可出现轻度认知能力下降。"},"tr":{"name":"İlerleyici miyoklonik epilepsi tip 7","synonyms":["EPM7","MEAK","PME tip 7","İlerleyici miyoklonus epilepsi tip 7","KV3.1 eksikliğine bağlı İlerleyici miyoklonik epilepsi","Potasyum kanal mutasyonu nedeniyle miyoklonus epilepsisi ve ataksi"]}},"xrefs":[{"source":"OMIM","code":"616187","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.41","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014521","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015420","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089657","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KCNC1","name":"potassium voltage-gated channel subfamily C member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25401298[PMID]","hgnc":"6233","ensembl":"ENSG00000129159","omim":"176258","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"25401298[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25401298[PMID]"}],"phenotypes":null}