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Reference

Evidence

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Proteins
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Materials
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A reference for what the literature reports. Not medical advice.

Disease

SCN4A-related channelopathy

MONDO:0800468Mondo

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Findings

No curated finding names SCN4A-related channelopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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.

Definition from the Mondo Disease Ontology (MONDO:0800468), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary neuromuscular disease
muscular channelopathy
Narrower terms (4): hyperkalemic periodic paralysis
hypokalemic periodic paralysis, type 2
paramyotonia congenita of Von Eulenburg
potassium-aggravated myotonia