Open AccessMutation location and I Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
Author(s) -
Peter J. Schwartz,
Cristina Moreno,
Maria Christina Kotta,
Matteo Pedrazzini,
Lia Crotti,
Federica Dagradi,
Silvia Castelletti,
Kristina H. Haugaa,
Isabelle Denjoy,
Shkol'nikova Ma,
Paul A Brink,
Marshall Heradien,
Sandrine Seyen,
Roel L. H. M. G. Spätjens,
Carla Spazzolini,
Paul G.A. Volders
Publication year - 2021
Publication title -
european heart journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.336
H-Index - 293
eISSN - 1522-9645
pISSN - 0195-668X
DOI - 10.1093/eurheartj/ehab582
Subject(s) - missense mutation , medicine , long qt syndrome , mutation , point mutation , qt interval , endocrinology , genetics , biology , gene
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.