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Article

Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

American journal of medical genetics. Part A - 1 Mar 2010

Summers Kim M, Bokil Nilesh J, Lu Foong Teng, Low Jiun Tsuen, Baisden John M, Duffy David, Radford Dorothy J

Abstract excerpt

A large Australian family affected with long QT syndrome (LQTS) was studied. The medical characteristics of the 16 clinically affected members were consistent with LQT1. A previously identified mutation in KCNQ1 was found in 12 affected individuals and 1 unaffected infant but absent in 4 affected...

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Source

Identifiers

PMID: 20186784
DOI: 10.1002/ajmg.a.33274

Genes

KCNQ1
AKAP9
KCND2
KCNJ15
KCNJ6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186784-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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