Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SCN4A
Sodium channel, voltage-gated, type IV, alpha




17q23-q25.3
* Sodium-channel myasthenia - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Congenital Myopathy related to SCN4A - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Severe foetal hypokinesia related to SCN4A - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Paramyotonia congenita of Von Eulenburg - PMC (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Hyperkalemic periodic paralysis - HYPP (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Potassium-aggravated myotonia - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Myotonia potassium-aggravatd - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
* Myasthenic syndrome, acetazolamide-responsive - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)