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Article

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

PloS one - 1 Jan 2014

Schweigmann Ulrich, Biliczki Peter, Ramirez Rafael J, Marschall Christoph, Takac Ina, Brandes Ralf P, Kotzot Dieter, Girmatsion Zenawit, Hohnloser Stefan H, Ehrlich Joachim R

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac death (SCD). Homozygous KCNH2 mutations underlying LQTS-2 have previously been termed "human HERG knockout" and typically express severe phenotypes. We studied genotype-phenotype correlations of an LQTS type 2 mutation identified in the homozygous index patient from a consanguineous Turkish family after his...

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

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Source

Open in PubMed Open full text

Identifiers

PMID: 25140878
DOI: 10.1371/journal.pone.0103150
PMCID: PMC4139196

Genes

KCNH2
SCD

Variants

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.

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