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Article

A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.

Cardiovascular research - 1 Sept 2015

Moreno Cristina, Oliveras Anna, de la Cruz Alicia, Bartolucci Chiara, Muñoz Carmen, Salar Eladia, Gimeno Juan R, Severi Stefano, Comes Nuria, Felipe Antonio, González Teresa, Lambiase Pier, Valenzuela Carmen

Abstract excerpt

AIMS: KCNQ1 and KCNE1 encode Kv7.1 and KCNE1, respectively, the pore-forming and the accessory subunits of the slow delayed rectifier potassium current, IKs. KCNQ1 mutations are associated with long and short QT syndrome. The aim of this study was to characterize the biophysical and cellular phenotype of a KCNQ1 missense mutation, F279I, found in a 23-year-old man with a corrected QT interval (QTc) of 356 ms and...

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Identifiers

PMID: 26168993
DOI: 10.1093/cvr/cvv196

Genes

KCNQ1

Variants

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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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