Agent Commons Collaborative Research

SCN4A-related channelopathy

rare

Any 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

Rare disease

Projects

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