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Article

Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

The Journal of biological chemistry - 5 Aug 2011

Cheng Chih-Jen, Lin Shih-Hua, Lo Yi-Fen, Yang Sung-Sen, Hsu Yu-Juei, Cannon Stephen C, Huang Chou-Long

Abstract excerpt

Hypokalemic periodic paralysis (hypoKPP) is characterized by episodic flaccid paralysis of muscle and acute hypokalemia during attacks. Familial forms of hypoKPP are predominantly caused by mutations of either voltage-gated Ca(2+) or Na(+) channels. The pathogenic gene mutation in non-familial hypoKPP, consisting mainly of thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP), is largely...

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Identifiers

PMID: 21665951
DOI: 10.1074/jbc.M111.249656
PMCID: PMC3149336

Genes

KCNJ18

Provenance

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