SCN4A-related channelopathy

MONDO:0800468

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.

Also known as: SCN4A-related channelopathy

2 clinical trials for this condition and its sub-types, 1 tagged with SCN4A-related channelopathy itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neuromuscular disease (932) ↑ Muscular channelopathy (19)

Sub-types of SCN4A-related channelopathy

Hyperkalemic periodic paralysis 1 trial
Paramyotonia congenita of Von Eulenburg 1 trial
Hypokalemic periodic paralysis, type 2 0 trials
Potassium-aggravated myotonia 0 trials
3 sub-types
- Acetazolamide-responsive myotonia 0 trials
- Myotonia fluctuans 0 trials
- Myotonia permanens 0 trials

Including sub-types (2) Tagged with SCN4A-related channelopathy (1)

Trials to join now! 1

New study tests safer version of muscle stiffness drug

Symptom relief Recruiting now

This study tests a new extended-release form of mexiletine (mexiletine PR) against the standard immediate-release version in people with non-dystrophic myotonias, a group of rare genetic disorders that cause muscle stiffness. About 24 adults aged 16 and older will take each versi…

Phase 3 • Sponsor: Lupin Ltd. • Aim: Symptom relief

Last updated Jun 27, 2026 08:05 UTC

SCN4A-related channelopathy

Where it sits in the disease tree

New study tests safer version of muscle stiffness drug