Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.

doi:10.1007/s00109-003-0504-1

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Article

Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.

Journal of molecular medicine (Berlin, Germany) - 1 Mar 2004

Teng Siyong, Ma Lijuan, Dong Yingxue, Lin Chunxia, Ye Jue, Bähring Robert, Vardanyan Vitya, Yang Yanzong, Lin Zhihu, Pongs Olaf, Hui Rutai

Abstract excerpt

We have found a novel nonsense mutation in the C-terminus of HERG in a four-generation Chinese family with long QT syndrome and investigated the molecular mechanism of this mutation in vitro. Six family members, including the proband, were clinically affected. Syncope and ventricular tachycardia of torsades de pointes were triggered by startling or emotional stress, and beta-adrenergic blockade treatment was...

Topics

Animals
Base Sequence
CHO Cells
Cation Transport Proteins
Cell Membrane
Cloning, Molecular
Cricetinae
DNA Mutational Analysis
Electrophysiology
Ether-A-Go-Go Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Gene Deletion

Haplotypes

Humans

Long QT Syndrome

Male

Microscopy, Confocal

Models, Genetic

Source

Open in PubMed

Identifiers

PMID: 14714110
DOI: 10.1007/s00109-003-0504-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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