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Article

Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.

Pediatric cardiology - 1 Jan 2011

Viadero M Teresa, Rubín Esther, Amigo Teresa, González-Lamuño Domingo

Abstract excerpt

This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 gene (KCNQ1; MIM 607542). Two members of the family died suddenly in their childhood, and all eight surviving members with prolonged QT have a heterozygous missense mutation resulting in a glycine-to-glutamate amino acid...

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Share to KCNQ1 gene
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Source

Identifiers

PMID: 20981542
DOI: 10.1007/s00246-010-9821-7

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.

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