{"orpha":530298,"name":"Progressive myoclonic epilepsy with neuroserpin inclusion bodies","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Early onset familial encephalopathy with neuroserpin inclusion bodies"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-530298/","orphanet_url":"https://www.orpha.net/en/disease/detail/530298","names":{"fr":{"name":"Epilepsie myoclonique progressive à corps d'inclusion de neuroserpine","synonyms":["Encéphalopathie familiale à corps d'inclusion de neuroserpine à début précoce"]},"de":{"name":"Progressive myoklonische Epilepsie mit Neuroserpin-Einschlusskörperchen","synonyms":["Früh beginnende familiäre Enzephalopathie mit Neuroserpin-Einschlusskörperchen"]},"es":{"name":"Epilepsia mioclónica progresiva con cuerpos de inclusión de neuroserpina","synonyms":["Encefalopatía familiar con cuerpos de inclusión de neuroserpina de inicio precoz"]},"it":{"name":"Epilessia mioclonica progressiva con corpi inclusi di neuroserpina"},"nl":{"name":"Progressieve myoclonische epilepsie met neuroserpine-inclusielichamen","synonyms":["Vroeg aanvangende familiale encefalopathie met neuroserpine-inclusielichamen"]},"pt":{"name":"Epilepsia mioclónica progressiva com neuroserpina nos corpos de inclusão"},"pl":{"name":"Postępująca padaczka miokloniczna z ciałkami inkluzyjnymi neuroserpiny","synonyms":["Rodzinna wczesna padaczka miokloniczna z ciałkami inkluzyjnymi neuroserpiny"]},"cs":{"name":"Progresivní myoklonická epilepsie s neuroserpinovými inkluzními tělísky","synonyms":["Familiární encefalopatie s časným nástupem s neuroserpinovými inkluzními tělísky"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія з включеннями тілець нейросерпіну","synonyms":["Рання сімейна енцефалопатія з тілами включення нейросерпіну"]},"zh":{"name":"进行性肌阵挛性癫痫伴神经源性丝氨酸蛋白酶抑制剂包涵体","synonyms":["早发性家族性脑病伴有神经源性丝氨酸蛋白酶抑制剂包涵体"]},"tr":{"name":"Nöroserpin inklüzyon cisimcikleri ile seyreden ilerleyici miyoklonik epilepsi","synonyms":["Nöroserpin inklüzyon cisimcikleri ile seyreden erken başlangıçlı ailesel ensefalopati"]}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5680144","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":85110,"name":"Familial encephalopathy with neuroserpin inclusion bodies","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":null}