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Article

Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 19 Jun 2023

Zeng Bin, Zhang Xiang, Schimpf Rainer, Powers Andrew, Glikson Michael, Antzelevitch Charles, Hu Dan, Barajas-Martinez Hector

Abstract excerpt

J wave syndrome (JWS) is an inherited cardiac channelopathy associated with malignant ventricular arrhythmias and sudden cardiac death (SCD), which comprises early repolarization syndrome and Brugada syndrome. Here, we explore the association between variants in the L-type calcium channel gene subunits, α1C (CACNA1C) and β2b (CACNB2b), and the JWS phenotype. Using next-generation genetic sequencing of 402 JWS...

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Identifiers

PMID: 37122210
DOI: 10.1098/rstb.2022.0286
PMCID: PMC10150203

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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