{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium 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-98746/","orphanet_url":"https://www.orpha.net/en/disease/detail/98746","names":{"fr":{"name":"Canalopathie neurologique génétique associée au canal potassique du système nerveux central"},"de":{"name":"Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Kaliumkanaldefekt"},"es":{"name":"Canalopatía neurológica del sistema nervioso central por un defecto genético de los canales de potasio"},"it":{"name":"Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del potassio"},"nl":{"name":"Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van kaliumkanaal"},"pt":{"name":"Canalopatia neurológica do sistema nervoso central por defeito genético do canal de potássio"},"pl":{"name":"Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu kanału potasowego"},"cs":{"name":"Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou draslíkového kanálu"},"uk":{"name":"Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту калієвих каналів"},"zh":{"name":"遗传性钙通道缺陷所致神经离子通道病"},"tr":{"name":"Genetik potasyum kanalı bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi"}},"xrefs":[{"source":"UMLS","code":"C5681708","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":166108,"name":"Birk-Barel syndrome","type":"Disease"},{"orpha":199343,"name":"EAST syndrome","type":"Disease"},{"orpha":1934,"name":"Early infantile developmental and epileptic encephalopathy","type":"Clinical syndrome"},{"orpha":37612,"name":"Episodic ataxia type 1","type":"Disease"},{"orpha":79137,"name":"Generalized epilepsy-paroxysmal dyskinesia syndrome","type":"Disease"},{"orpha":664438,"name":"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":439218,"name":"KCNQ2-related developmental and epileptic encephalopathy","type":"Disease"},{"orpha":435628,"name":"Keppen-Lubinsky syndrome","type":"Malformation syndrome"},{"orpha":442835,"name":"Non-specific early-onset epileptic encephalopathy","type":"Disease"},{"orpha":98809,"name":"Paroxysmal kinesigenic dyskinesia","type":"Disease"},{"orpha":435438,"name":"Progressive myoclonic epilepsy type 7","type":"Disease"},{"orpha":306,"name":"Self-limited infantile epilepsy","type":"Disease"},{"orpha":1949,"name":"Self-limited neonatal epilepsy","type":"Disease"},{"orpha":140927,"name":"Self-limited neonatal/infantile epilepsy","type":"Disease"},{"orpha":98784,"name":"Sleep-related hypermotor epilepsy","type":"Disease"},{"orpha":98768,"name":"Spinocerebellar ataxia type 13","type":"Disease"},{"orpha":98772,"name":"Spinocerebellar ataxia type 19/22","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}