Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T et al.
Disease Models & Mechanisms, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.
Strand S et al.
Circulation. Arrhythmia and Electrophysiology, 2020
Fetal diagnosis of KCNQ1-variant long QT syndrome using fetal echocardiography and magnetocardiography.
Desai L et al.
Pacing and Clinical Electrophysiology : Pace, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
Chen XM et al.
Heart and Vessels, 2019
In utero diagnosis of long QT syndrome by magnetocardiography.
Cuneo BF et al.
Circulation, 2013
Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.
Cuneo BF et al.
Circulation. Arrhythmia and Electrophysiology, 2013
Fetal heart rate predictors of long QT syndrome.
Mitchell JL et al.
Circulation, 2012
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.
Amin AS et al.
European Heart Journal, 2012
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
Choi G et al.
Circulation, 2004