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Article

Annotation of functional impact of voltage-gated sodium channel mutations.

Human mutation - 1 May 2017

Hinard Valérie, Britan Aurore, Schaeffer Mathieu, Zahn-Zabal Monique, Thomet Urs, Rougier Jean-Sébastien, Bairoch Amos, Abriel Hugues, Gaudet Pascale

Abstract excerpt

Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotransmission, skeletal muscle contraction, heart rhythm, and pain sensation. Genetic variations in...

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Identifiers

PMID: 28168870
DOI: 10.1002/humu.23191
PMCID: PMC5413847

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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