Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.

doi:10.1161/JAHA.115.003122

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

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.

Journal of the American Heart Association - 10 Jun 2016

Portero Vincent, Le Scouarnec Solena, Es-Salah-Lamoureux Zeineb, Burel Sophie, Gourraud Jean-Baptiste, Bonnaud Stéphanie, Lindenbaum Pierre, Simonet Floriane, Violleau Jade, Baron Estelle, Moreau Eléonore, Scott Carol, Chatel Stéphanie, Loussouarn Gildas, O'Hara Thomas, Mabo Philippe, Dina Christian, Le Marec Hervé, Schott Jean-Jacques, Probst Vincent, Baró Isabelle, Marionneau Céline, Charpentier Flavien, Redon Richard

Abstract excerpt

BACKGROUND: The Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN5A, the molecular mechanisms underlying this condition are still largely unknown. METHODS AND RESULTS: We combined whole-exome sequencing and linkage analysis to identify the genetic variant likely causing Brugada syndrome in a pedigree...

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 Electrocardiography

Share to Genetic Predisposition to Disease

Share to Genotype

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Share to Potassium Channels, Voltage-Gated

Source

Open in PubMed Open full text

Identifiers

PMID: 27287695
DOI: 10.1161/JAHA.115.003122
PMCID: PMC4937261

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

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.PMID 27287695Read ↗

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.Semantic proximity Read ↗

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceSemantic proximity Read ↗

p.D372H: A novel SCN5A mutation associated with Brugada syndromeSemantic proximity Read ↗

Genetic and Molecular Mechanisms in Brugada Syndrome.Semantic proximity Read ↗

High-throughput genetic characterization of a cohort of Brugada syndrome patients.Semantic proximity Read ↗

A novel three base-pair deletion in domain two of the cardiac sodium channel causes Brugada syndrome.Semantic proximity Read ↗

Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.Semantic proximity Read ↗

The Genetics of Brugada SyndromeSemantic proximity Read ↗

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.Semantic proximity Read ↗

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.Semantic proximity Read ↗

Brugada Syndrome: From Molecular Mechanisms and Genetics to Risk Stratification.Semantic proximity Read ↗

Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc ShorteningSemantic proximity Read ↗

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