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Article

A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.

BMC pediatrics - 2 Oct 2023

Zhou Wen, Zhao Peilin, Gao Jian, Zhang Yunjian

Abstract excerpt

BACKGROUND: The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells. Pathogenic variants of CACNA1S can cause hypokalemic periodic paralysis (HypoPP), malignant hyperthermia susceptibility, and congenital myopathy. We aimed to study the clinical and molecular features of a male child with a CACNA1S variant and depict the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37784084
DOI: 10.1186/s12887-023-04326-1
PMCID: PMC10544472

Provenance

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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