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Article

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

European journal of human genetics : EJHG - 1 Jan 2000

Neyroud N, Denjoy I, Donger C, Gary F, Villain E, Leenhardt A, Benali K, Schwartz K, Coumel P, Guicheney P

Abstract excerpt

Mutations in KvLQT1, a gene encoding a potassium channel, cause both the recessive Jervell and Lange-Nielsen (JLN) syndrome and the dominant Romano-Ward (RW) syndrome. These diseases are characterised by a prolonged QT interval on the ECG, syncopes and sudden death due to cardiac arrhythmias. The...

Topics

Consanguinity
Female
Heterozygote
Humans
KCNQ Potassium Channels
KCNQ1 Potassium Channel
Long QT Syndrome
Male
Mutation, Missense
Pedigree
Phenotype
Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Potassium Channels, Voltage-Gated

Source

Identifiers

PMID: 9781056
DOI: 10.1038/sj.ejhg.5200165

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9781056-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.PMID 9781056Read ↗

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Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

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

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

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