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Article

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

EMBO molecular medicine - 1 Jul 2014

Friedrich Corinna, Rinné Susanne, Zumhagen Sven, Kiper Aytug K, Silbernagel Nicole, Netter Michael F, Stallmeyer Birgit, Schulze-Bahr Eric, Decher Niels

Abstract excerpt

Analyzing a patient with progressive and severe cardiac conduction disorder combined with idiopathic ventricular fibrillation (IVF), we identified a splice site mutation in the sodium channel gene SCN5A. Due to the severe phenotype, we performed whole-exome sequencing (WES) and identified an addi...

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Share to Arrhythmias, Cardiac
Share to Brugada Syndrome
Share to Cardiac Conduction System Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Conduction System

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Potassium Channels, Tandem Pore Domain

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Source

Open in PubMed Open full text

Identifiers

PMID: 24972929
DOI: 10.15252/emmm.201303783
PMCID: PMC4119356

Genes

KCNK17

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24972929-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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