SCN4A-related channelopathy
MONDO:0800468Any 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.
Also known as: SCN4A-related channelopathy
3 clinical trials for this condition and its sub-types.
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Broader categories
Disease
(618)
Nervous system disorder
(217)
Hereditary disease
(172)
Neuromuscular disease
(98)
Human disease
(14)
Hereditary neurological disease
(5)
Hereditary neuromuscular disease
(3)
Disease by molecular mechanism
(2)
Disease of genetic or genomic mechanism
(2)
Disease by body system or component
(0)