{"orpha":98749,"name":"Neurological channelopathy of the central nervous system due to a genetic GABA receptor 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-98749/","orphanet_url":"https://www.orpha.net/en/disease/detail/98749","names":{"fr":{"name":"Canalopathie neurologique génétique associée au recepteur au GABA du système nerveux central"},"de":{"name":"Ionenkanalkrankheit des ZNS, bei genetisch bedingtem GABA-Rezeptordefekt"},"es":{"name":"Canalopatía neurológica del sistema nervioso central por un defecto genético del receptor GABA"},"it":{"name":"Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore del GABA"},"nl":{"name":"Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van GABA-receptor"},"pt":{"name":"Canalopatia neurológica do sistema nervoso central por defeito genético do recetor GABA"},"pl":{"name":"Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu receptora GABA"},"cs":{"name":"Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou GABA-receptoru"},"uk":{"name":"Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту ГАМК-рецепторів"},"zh":{"name":"遗传性GABA受体缺陷所致神经离子通道病"},"tr":{"name":"Genetik bir GABA reseptör defekti nedeniyle merkezi sinir sisteminin nörolojik kanalopatisi"}},"xrefs":[{"source":"UMLS","code":"C5681702","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":33069,"name":"Dravet syndrome","type":"Disease"},{"orpha":36387,"name":"Genetic epilepsy with febrile seizure plus","type":"Disease"},{"orpha":307,"name":"Juvenile myoclonic epilepsy","type":"Disease"},{"orpha":2382,"name":"Lennox-Gastaut syndrome","type":"Disease"},{"orpha":442835,"name":"Non-specific early-onset epileptic encephalopathy","type":"Disease"},{"orpha":1945,"name":"Self-limited epilepsy with centrotemporal spikes","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}