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
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
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
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
Comorbid Epilepsy and Developmental Disorders in Congenital Long QT Syndrome With Life-Threatening Perinatal Arrhythmias.
Miyazaki A et al.
Jacc. Clinical Electrophysiology, 2016
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
Must every child with long QT syndrome take a beta blocker?
Waddell-Smith KE et al.
Archives of Disease in Childhood, 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
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.
Couderc JP et al.
Journal of the American Heart Association, 2012
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
Jons C et al.
Journal of Cardiovascular Electrophysiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
[Neonatal forms of congenital long QT syndrome].
Lupoglazoff JM et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux, 2004
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
Lupoglazoff JM et al.
Journal of the American College of Cardiology, 2004
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000