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Article

Missense mutation causes multiple defects in Nav1.4 channel gating and leads to an SCN4A-associated overlap phenotype.

The Journal of general physiology - 4 May 2026

Tikhonova Tatiana B, Sharkov Artem A, Murtazina Aysylu F, Mashkovtseva Nadezda V, Zhorov Boris S, Vassilevski Alexander A

Abstract excerpt

Mutations in SCN4A gene encoding the skeletal muscle-type voltage-gated sodium channel Nav1.4 are known to cause neuromuscular disorders. Here, we report a previously undescribed variant affecting the DIII-IV cytoplasmic linker, which is a critically important region participating in channel inactivation. The variant p.L1326P was found in heterozygous state in two members of the same family presenting mild...

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Identifiers

PMID: 42012473
DOI: 10.1085/jgp.202413706

Genes

SCN4A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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