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Article

Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.

Heart rhythm - 1 Aug 2008

Biliczki Peter, Girmatsion Zenawit, Harenkamp Sabine, Anneken Lars, Brandes Ralf P, Varro Andras, Marschall Christoph, Herrera Daniel, Hohnloser Stefan H, Nattel Stanley, Ehrlich Joachim R

Abstract excerpt

BACKGROUND: C-terminal KCNH2 mutations are commonly associated with a more benign clinical presentation, but mutations localized in close proximity may exhibit different clinical and biophysical phenotypes. The value of detailed cellular characterization of such mutant channels in vitro has not been studied with respect to clinical risk stratification of affected patients. OBJECTIVE: The purpose of this study was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18675227
DOI: 10.1016/j.hrthm.2008.04.016

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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