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Article

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

American journal of human genetics - 1 Apr 1999

Mohammad-Panah R, Demolombe S, Neyroud N, Guicheney P, Kyndt F, van den Hoff M, Baró I, Escande D

Abstract excerpt

The long QT syndrome is characterized by prolonged cardiac repolarization and a high risk of sudden death. Mutations in the KCNQ1 gene, which encodes the cardiac KvLQT1 potassium ion (K+) channel, cause both the autosomal dominant Romano-Ward (RW) syndrome and the recessive Jervell and Lange-Nielsen (JLN) syndrome. JLN presents with cardiac arrhythmias and congenital deafness, and heterozygous carriers of JLN...

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Share to KCNQ Potassium Channels
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Potentials

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Source

Open in PubMed Open full text

Identifiers

PMID: 10090886
DOI: 10.1086/302346
PMCID: PMC1377825

Genes

KCNQ1

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.

Related research

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Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.PMID 10090886Read ↗

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.Semantic proximity Read ↗

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A Recessive Variant of the Romano-Ward Long-QT Syndrome?Semantic proximity Read ↗

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Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia.Semantic proximity Read ↗

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward SyndromeSemantic proximity Read ↗

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.Semantic proximity Read ↗

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KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.Semantic proximity Read ↗

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