{"orpha":716881,"name":"Congenital myasthenic syndrome due to a sodium channel 1.4 defect","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS due to a sodium channel 1.4 defect","Na channel myasthenia","Sodium channel myasthenia"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716881/","orphanet_url":"https://www.orpha.net/en/disease/detail/716881","names":{"fr":{"name":"Syndrome myasthénique congénital dû à une annomalie du canal sodium 1.4"},"de":{"name":"Kongenitales myasthenes Syndrom durch Natriumkanal 1.4-Defekt","synonyms":["CMS durch Defekt des Natriumkanals 1.4","Na-Kanal-Myasthenie","Natriumkanal-Myasthenie"]},"es":{"name":"Síndrome miasténico congénito por defectos del canal de sodio 1.4","synonyms":["Miastenia por el canal de Na","Miastenia por el canal de sodio","SMC por defecto del canal de sodio 1.4"]},"it":{"name":"Sindrome miastenica congenita da difetto del canale del sodio 1.4","synonyms":["Miastenia correlata al canale Na","CMS da difetto del canale del sodio 1.4","SMC da difetto del canale del sodio 1.4","Miastenia correlata al canale del Na","Miastenia correlata al canale del sodio"]},"nl":{"name":"Congenitaal myastheen syndroom door defect van natriumkanaal 1.4","synonyms":["CMS door defect van natriumkanaal 1.4","Myasthenie door natriumkanaal","Myasthenie door Na-kanaal"]},"pt":{"name":"Congenital myasthenic syndromes due to a sodium channel 1.4 defect"},"pl":{"name":"Wrodzone zespoły miasteniczne spowodowane defektem kanału sodowego 1.4","synonyms":["CMS due to a sodium channel 1.4 defect","Na channel myasthenia","Sodium channel myasthenia"]},"cs":{"name":"Congenital myasthenic syndrome due to a sodium channel 1.4 defect","synonyms":["CMS due to a sodium channel 1.4 defect","Na channel myasthenia","Sodium channel myasthenia"]}},"xrefs":[{"source":"OMIM","code":"614198","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"SCN4A","name":"sodium voltage-gated channel alpha subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301347[PMID]","hgnc":"10591","ensembl":"ENSG00000007314","omim":"603967","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}