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Article

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science advances - 1 Mar 2018

Huang Hui, Kuenze Georg, Smith Jarrod A, Taylor Keenan C, Duran Amanda M, Hadziselimovic Arina, Meiler Jens, Vanoye Carlos G, George Alfred L, Sanders Charles R

Abstract excerpt

Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the congenital long QT syndrome (LQTS). Hundreds of KCNQ1 mutations have been identified, but the molecular mechanisms responsible for impaired function are poorly understood. We investigated the impact of 51 KCNQ1 variants with mutations located...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29532034
DOI: 10.1126/sciadv.aar2631
PMCID: PMC5842040

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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