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Article

Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.

Congenital heart disease - 1 Dec 2016

Sutphin Brittan S, Boczek Nicole J, Barajas-Martínez Héctor, Hu Dan, Ye Dan, Tester David J, Antzelevitch Charles, Ackerman Michael J

Abstract excerpt

INTRODUCTION: Perturbations in the CACNA1C-encoded L-type calcium channel α-subunit have been linked recently to heritable arrhythmia syndromes, including Timothy syndrome, Brugada syndrome, early repolarization syndrome, and long QT syndrome. These heritable arrhythmia syndromes may serve as a pathogenic basis for autopsy-negative sudden unexplained death in the young (SUDY). However, the contribution of CACNA1C...

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Identifiers

PMID: 27218670
DOI: 10.1111/chd.12371

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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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