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Article

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.

The Canadian journal of cardiology - 1 Aug 2009

Keller Dagmar I, Grenier Julie, Christé Georges, Dubouloz Frédérique, Osswald Stefan, Brink Marijke, Ficker Eckhard, Chahine Mohamed

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) is characterized by corrected QT interval prolongation leading to torsades de pointes and sudden cardiac death. LQTS type 2 (LQTS2) is caused by mutations in the KCNH2 gene, leading to a reduction of the rapidly activating delayed rectifier K+ current and loss of human ether-à-go-go-related gene (hERG) channel function by different mechanisms. Triggers for life-threatening...

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Source

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Identifiers

PMID: 19668779
DOI: 10.1016/s0828-282x(09)70117-5
PMCID: PMC2732373

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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