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Article

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

Brain : a journal of neurology - 1 Apr 2014

Groome James R, Lehmann-Horn Frank, Fan Chunxiang, Wolf Markus, Winston Vern, Merlini Luciano, Jurkat-Rott Karin

Abstract excerpt

Hypokalaemic periodic paralysis is typically associated with mutations of voltage sensor residues in calcium or sodium channels of skeletal muscle. To date, causative sodium channel mutations have been studied only for the two outermost arginine residues in S4 voltage sensor segments of domains I to III. These mutations produce depolarization of skeletal muscle fibres in response to reduced extracellular...

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Identifiers

PMID: 24549961
DOI: 10.1093/brain/awu015
PMCID: PMC3959555

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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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