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Article

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

Journal of molecular medicine (Berlin, Germany) - 1 Mar 2005

Wang Qiufen, Liu Mugen, Xu Chunsheng, Tang Zhaohui, Liao Yuhua, Du Rong, Li Wei, Wu Xiaoyan, Wang Xu, Liu Ping, Zhang Xianqin, Zhu Jianfang, Ren Xiang, Ke Tie, Wang Qing, Yang Junguo

Abstract excerpt

Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel alpha-subunit gene CACNA1S is a major disease-causing gene for HypoP...

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Identifiers

PMID: 15726306
DOI: 10.1007/s00109-005-0638-4
PMCID: PMC1579762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15726306-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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