Associated Papers
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.
Schwartz PJ et al.
European Heart Journal, 2021
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
Kaltenbach S et al.
Clinical Genetics, 2013
Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.
Harkcom WT et al.
Expert Review of Cardiovascular Therapy, 2010
Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.
Aizawa Y et al.
Journal of Cardiovascular Electrophysiology, 2007
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G et al.
Clinical Genetics, 2006
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Wilson AJ et al.
Cardiovascular Research, 2005
Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.
Aizawa Y et al.
Febs Letters, 2004
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