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Article

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

PloS one - 1 Jan 2014

Hennessey Jessica A, Boczek Nicole J, Jiang Yong-Hui, Miller Joelle D, Patrick William, Pfeiffer Ryan, Sutphin Brittan S, Tester David J, Barajas-Martinez Hector, Ackerman Michael J, Antzelevitch Charles, Kanter Ronald, Pitt Geoffrey S

Abstract excerpt

Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS). We identified a variant in CACNA1C in a male child of Filipino descent with arrhythmias and extracardiac features by candidate gene sequencing and performed functional expression studies to electrophysiologically characterize the effects of the variant on...

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Identifiers

PMID: 25184293
DOI: 10.1371/journal.pone.0106982
PMCID: PMC4153713

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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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