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Article

NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.

Scientific reports - 10 Jul 2018

Bayless-Edwards Landon, Winston Vern, Lehmann-Horn Frank, Arinze Paula, Groome James R, Jurkat-Rott Karin

Abstract excerpt

Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNaV1.4 domain I mutation linked to this disease. R222W patients exhibited a higher density of fibers with depolarized resting membrane potentials and produced action potentials that were attenuated compared to...

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Identifiers

PMID: 29991727
DOI: 10.1038/s41598-018-28594-5
PMCID: PMC6039468

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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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