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 - (7.3, 7.4, 7.5, 7.6, 11.20)
* Paramyotonia congenita of Von Eulenburg - PMC (7.3, 7.4, 7.5, 7.6, 11.20)
* Hyperkalemic periodic paralysis - HYPP (7.3, 7.4, 7.5, 7.6, 11.20)
* Potassium-aggravated myotonia - (7.3, 7.4, 7.5, 7.6, 11.20)
* Myotonia potassium-aggravatd - (7.3, 7.4, 7.5, 7.6, 11.20)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (7.3, 7.4, 7.5, 7.6, 11.20)
* Myasthenic syndrome, acetazolamide-responsive - (7.3, 7.4, 7.5, 7.6, 11.20)