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Article

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

Journal of human genetics - 1 Nov 2009

Ke Tie, Gomez Cladelis Rubio, Mateus Heidi Eliana, Castano Juan Andres, Wang Qing Kenneth

Abstract excerpt

Hypokalaemic 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. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6)....

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Identifiers

PMID: 19779499
DOI: 10.1038/jhg.2009.92

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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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