Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

doi:10.1093/eurheartj/ehr473

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Article

Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European heart journal - 1 Mar 2012

Amin Ahmad S, Giudicessi John R, Tijsen Anke J, Spanjaart Anne M, Reckman Yolan J, Klemens Christine A, Tanck Michael W, Kapplinger Jamie D, Hofman Nynke, Sinner Moritz F, Müller Martina, Wijnen Wino J, Tan Hanno L, Bezzina Connie R, Creemers Esther E, Wilde Arthur A M, Ackerman Michael J, Pinto Yigal M

Abstract excerpt

AIMS: Heterozygous mutations in KCNQ1 cause type 1 long QT syndrome (LQT1), a disease characterized by prolonged heart rate-corrected QT interval (QTc) and life-threatening arrhythmias. It is unknown why disease penetrance and expressivity is so variable between individuals hosting identical mutations. We aimed to study whether this can be explained by single nucleotide polymorphisms (SNPs) in KCNQ1's 3'...

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PMID: 22199116
DOI: 10.1093/eurheartj/ehr473
PMCID: PMC3303714

Genes

KCNQ1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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