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
The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants.
Cui S et al.
Journal of Molecular and Cellular Cardiology, 2023
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic 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
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
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 challenge for mutation specific risk stratification in long QT syndrome type 1.
Yagi N et al.
Journal of Cardiology, 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
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
Huttunen H et al.
Frontiers in Endocrinology, 2018
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G et al.
Pediatric Cardiology, 2016
Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.
Hayashi K et al.
Jacc. Clinical Electrophysiology, 2016
Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.
Zhou H et al.
Cardiology in the Young, 2016
Pediatric Cohort With Long QT Syndrome - KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.
Ozawa J et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].
Zhou H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2015
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
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Anti-KCNQ1 K⁺ channel autoantibodies increase IKs current and are associated with QT interval shortening in dilated cardiomyopathy.
Li J et al.
Cardiovascular Research, 2013
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
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR et al.
Nature Reviews. Cardiology, 2012
Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.
Krishnan Y et al.
Pacing and Clinical Electrophysiology : Pace, 2012
A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.
Chen J et al.
Pacing and Clinical Electrophysiology : Pace, 2011
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
Aidery P et al.
Biochimica Et Biophysica Acta, 2011
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.
Nishio Y et al.
Journal of the American College of Cardiology, 2009
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
[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Li CL et al.
Zhonghua Nei Ke Za Zhi, 2007
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
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
Liu WL et al.
Zhonghua Nei Ke Za Zhi, 2006
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2005
[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].
Li P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
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
Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.
Liu W et al.
Chinese Medical Journal, 2003
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.
Inoue M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2003
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Liu W et al.
Human Mutation, 2002