{"orpha":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98745/","orphanet_url":"https://www.orpha.net/en/disease/detail/98745","names":{"fr":{"name":"Canalopathie neurologique génétique associée au canal calcique du système nerveux central"},"de":{"name":"Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Kalziumkanaldefekt"},"es":{"name":"Canalopatía neurológica del sistema nervioso central por un defecto genético de los canales de calcio"},"it":{"name":"Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del calcio"},"nl":{"name":"Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van calciumkanaal"},"pt":{"name":"Canalopatia neurológica do sistema nervoso central por defeito genético do canal de cálcio"},"pl":{"name":"Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu kanału wapniowego"},"cs":{"name":"Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou vápníkového kanálu"},"uk":{"name":"Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту кальцієвих каналів"},"zh":{"name":"遗传性氯通道缺陷所致神经离子通道病"},"tr":{"name":"Genetik kalsiyum kanal bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi"}},"xrefs":[{"source":"UMLS","code":"C5681707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98743,"name":"Genetic neurological channelopathy of the central nervous system","classifications":[156]}],"children":[{"orpha":64280,"name":"Childhood absence epilepsy","type":"Disease"},{"orpha":569,"name":"Familial or sporadic hemiplegic migraine","type":"Disease"},{"orpha":97,"name":"Familial paroxysmal ataxia","type":"Disease"},{"orpha":442835,"name":"Non-specific early-onset epileptic encephalopathy","type":"Disease"},{"orpha":458803,"name":"Spinocerebellar ataxia type 42","type":"Disease"},{"orpha":98758,"name":"Spinocerebellar ataxia type 6","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}