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Article

A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study.

PloS one - 1 Jan 2017

Liu Xin, Shen Yang, Xie Jinyan, Bao Huihui, Cao Qing, Wan Rong, Xu Xiaoming, Zhou Hui, Huang Lin, Xu Zhenyan, Zhu Wengen, Hu Jinzhu, Cheng Xiaoshu, Hong Kui

Abstract excerpt

BACKGROUND: Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS: We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium channel gene CACNA1C...

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Identifiers

PMID: 28493952
DOI: 10.1371/journal.pone.0177532
PMCID: PMC5426766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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