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

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

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: The purpose of this study was to identify mutations in the α1, β2, and α2δ subunits of LTCC (Ca(v)1.2) among 205...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brugada Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Calcium Channels

Share to DNA Mutational Analysis

Share to Electrocardiography

Share to Genetic Association Studies

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to 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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.PMID 20817017Read ↗

L-type calcium channel mutations in Japanese patients with inherited arrhythmias.Semantic proximity Read ↗

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.Semantic proximity Read ↗

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.Semantic proximity Read ↗

Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.Semantic proximity Read ↗

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

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.Semantic proximity Read ↗

Ion Channel Disorders and Sudden Cardiac Death.Semantic proximity Read ↗

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).Semantic proximity Read ↗

Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing.Semantic proximity Read ↗

Molecular biology and the prolonged QT syndromes.Semantic proximity Read ↗

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.Semantic proximity Read ↗

Sudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.