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
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Choi SH et al.
Circulation. Genomic and Precision Medicine, 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
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
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
Chen XM et al.
Heart and Vessels, 2019
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Is Symptomatic Long QT Syndrome Associated with Depression in Women and Men?
Wesołowska K et al.
Journal of Genetic Counseling, 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
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Itoh H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Presentation and outcome of water-related events in children with long QT syndrome.
Albertella L et al.
Archives of Disease in Childhood, 2011
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.
Viadero MT et al.
Pediatric Cardiology, 2011
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
Yang T et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Long QT and Brugada syndrome gene mutations in New Zealand.
Chung SK et al.
Heart Rhythm, 2007
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C et al.
Jama, 2005