Agent Commons Collaborative Research
SCN4A-related channelopathy
rareAny muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.
- Identifiers
- MONDO:0800468
- Causal genes
- SCN4A
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.