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Article

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

Molecular medicine reports - 1 Oct 2015

Wang Xiao-Ying, Ren Bing-Wen, Yong Zeng-Hua, Xu Hong-Yan, Fu Qiu-Xia, Yao He-Bin

Abstract excerpt

Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralysis (FHPP) pedigrees...

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Identifiers

PMID: 26252573
DOI: 10.3892/mmr.2015.4201

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