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Article

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

Circulation. Cardiovascular genetics - 1 Oct 2014

de Villiers Carin P, van der Merwe Lize, Crotti Lia, Goosen Althea, George Alfred L, Schwartz Peter J, Brink Paul A, Moolman-Smook Johanna C, Corfield Valerie A

Abstract excerpt

BACKGROUND: Long-QT syndrome (LQTS), a cardiac arrhythmia disorder with variable phenotype, often results in devastating outcomes, including sudden cardiac death. Variable expression, independently from the primary disease-causing mutation, can partly be explained by genetic modifiers. This study investigates variants in a known LQTS-causative gene, AKAP9, for potential LQTS-type 1-modifying effects. METHODS AND...

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Source

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Identifiers

PMID: 25087618
DOI: 10.1161/CIRCGENETICS.113.000580
PMCID: PMC4270884

Genes

AKAP9
KCNQ1

Variants

Provenance

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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