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Article

In silico investigation of a KCNQ1 mutation associated with short QT syndrome.

Scientific reports - 16 Aug 2017

Adeniran Ismail, Whittaker Dominic G, El Harchi Aziza, Hancox Jules C, Zhang Henggui

Abstract excerpt

Short QT syndrome (SQTS) is a rare condition characterized by abnormally 'short' QT intervals on the ECG and increased susceptibility to cardiac arrhythmias and sudden death. This simulation study investigated arrhythmia dynamics in multi-scale human ventricle models associated with the SQT2-related V307L KCNQ1 'gain-of-function' mutation, which increases slow-delayed rectifier potassium current (IKs). A Markov...

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Source

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Identifiers

PMID: 28814790
DOI: 10.1038/s41598-017-08367-2
PMCID: PMC5559555

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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