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Article

Diverse biophysical mechanisms in voltage-gated sodium channel Nav1.4 variants associated with myotonia.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 31 Aug 2024

Tikhonova Tatiana B, Sharkov Artem A, Zhorov Boris S, Vassilevski Alexander A

Abstract excerpt

Mutations in SCN4A gene encoding Nav1.4 channel α-subunit, are known to cause neuromuscular disorders such as myotonia or paralysis. Here, we study the effect of two amino acid replacements, K1302Q and G1306E, in the DIII-IV loop of the channel, corresponding to mutations found in patients with myotonia. We combine clinical, electrophysiological, and molecular modeling data to provide a holistic picture of the...

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Source

Identifiers

PMID: 39150825
DOI: 10.1096/fj.202400867R

Genes

SCN4A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Diverse biophysical mechanisms in voltage-gated sodium channel Nav1.4 variants associated with myotonia.PMID 39150825Read ↗

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

Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia.Semantic proximity Read ↗

Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four <i>SCN2A</i> variantsSemantic proximity Read ↗

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?Semantic proximity Read ↗

Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium ChannelsSemantic proximity Read ↗

The pathogenic p.N1662D SCN2A mutation reveals an essential molecular interaction for Na <sub>v</sub> 1.2 channel inactivationSemantic proximity Read ↗

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