Associated Papers
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
37449562 (PubMed )
Supplement: JAH3-12-e029845-s001.pdf
Clinical characterization of the first Belgian SCN5A founder mutation cohort.
Sieliwonczyk E et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021
Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.
Bhuiyan ZA
Heart Rhythm, 2018
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J et al.
Nature Communications, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › KCNQ1_All
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.
Millat G et al.
Pediatric Cardiology, 2009
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
Fodstad H et al.
Annals of Medicine, 2004
Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.
Kubota T et al.
Journal of Cardiovascular Electrophysiology, 2001
Select a paper to view details