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Article

A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

The Journal of clinical investigation - 1 Oct 2011

Wu Fenfen, Mi Wentao, Burns Dennis K, Fu Yu, Gray Hillery F, Struyk Arie F, Cannon Stephen C

Abstract excerpt

Hypokalemic periodic paralysis (HypoPP) is an ion channelopathy of skeletal muscle characterized by attacks of muscle weakness associated with low serum K+. HypoPP results from a transient failure of muscle fiber excitability. Mutations in the genes encoding a calcium channel (CaV1.1) and a sodium channel (NaV1.4) have been identified in HypoPP families. Mutations of NaV1.4 give rise to a heterogeneous group of...

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Identifiers

PMID: 21881211
DOI: 10.1172/JCI57398
PMCID: PMC3195470

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