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Article

Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.

Journal of molecular neuroscience : MN - 4 Feb 2026

Shu Haiyan, Chen Chen, Yang Jianmei

Abstract excerpt

Hypokalemic periodic paralysis (HypoPP) is a muscle disease caused by abnormal ion channels and is characterized by recurrent skeletal muscle relaxation paralysis and hypokalemia. There are obvious triggers before disease onset, such as cold, excessive exercise, excessive consumption of sugary and high-energy foods, and overeating. The aim of this study was to elucidate the pathogenic mechanism of novel mutations...

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Identifiers

PMID: 41634283
DOI: 10.1007/s12031-026-02489-x

Genes

CACNA1S

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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