Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

doi:10.1016/j.hrthm.2010.08.026

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Article

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart rhythm - 1 Dec 2010

Burashnikov Elena, Pfeiffer Ryan, Barajas-Martinez Héctor, Delpón Eva, Hu Dan, Desai Mayurika, Borggrefe Martin, Häissaguerre Michel, Kanter Ronald, Pollevick Guido D, Guerchicoff Alejandra, Laiño Ruben, Marieb Mark, Nademanee Koonlawee, Nam Gi-Byoung, Robles Roberto, Schimpf Rainer, Stapleton Dwight D, Viskin Sami, Winters Stephen, Wolpert Christian, Zimmern Samuel, Veltmann Christian, Antzelevitch Charles

Abstract excerpt

BACKGROUND: L-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is known about the extent to which LTCC mutations contribute to the J-wave syndromes associated with sudden cardiac death. OBJECTIVE:...

Topics

Adult
Animals
Arrhythmias, Cardiac
Brugada Syndrome
Calcium Channels
Calcium Channels, L-Type
DNA Mutational Analysis
Death, Sudden, Cardiac
Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Electrophysiologic Techniques, Cardiac

Female

Genetic Association Studies

Genetic Predisposition to Disease

Genetic Variation

Humans

Male

Middle Aged

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 20817017
DOI: 10.1016/j.hrthm.2010.08.026
PMCID: PMC2999985

Genes

CACNB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-20817017-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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