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Article

Functionally Aberrant Mutant KCNQ1 With Intermediate Heterozygous and Homozygous Phenotypes.

The Canadian journal of cardiology - 1 Sept 2018

Liu Zhenning, Zheng Renjian, Grushko Michael J, Uversky Vladimir N, McDonald Thomas V

Abstract excerpt

BACKGROUND: Deleterious mutations in KCNQ1 may lead to an autosomal dominant form of long QT syndrome (LQTS) (Romano-Ward) or autosomal recessive form (Jervell and Lange-Nielsen). Both are associated with severe ventricular tachyarrhythmias due to the reduction of the slowly activating delayed rectifier K+ current (IKs). Our objective was to investigate the functional consequences of KCNQ1-R562S mutation in an...

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Source

Identifiers

PMID: 30170673
DOI: 10.1016/j.cjca.2018.06.015

Genes

KCNQ1

Variants

Provenance

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