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Article

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European heart journal - 7 Dec 2021

Schwartz Peter J, Moreno Cristina, Kotta Maria-Christina, Pedrazzini Matteo, Crotti Lia, Dagradi Federica, Castelletti Silvia, Haugaa Kristina H, Denjoy Isabelle, Shkolnikova Maria A, Brink Paul A, Heradien Marshall J, Seyen Sandrine R M, Spätjens Roel L H M G, Spazzolini Carla, Volders Paul G A

Abstract excerpt

AIMS: Mutation type, location, dominant-negative IKs reduction, and possibly loss of cyclic adenosine monophosphate (cAMP)-dependent IKs stimulation via protein kinase A (PKA) influence the clinical severity of long QT syndrome type 1 (LQT1). Given the malignancy of KCNQ1-p.A341V, we assessed whether mutations neighbouring p.A341V in the S6 channel segment could also increase arrhythmic risk. METHODS AND RESULTS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34505893
DOI: 10.1093/eurheartj/ehab582
PMCID: PMC8851466

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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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