Associated Papers
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS et al.
Human Molecular Genetics, 2023
Genetic variants in Colombian patients with inherited cardiac conditions.
Rucinski C et al.
Molecular Genetics & Genomic Medicine, 2022
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 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
Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy.
Finocchiaro G 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, 2020
Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.
Du F et al.
Medicine, 2020
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
Identification of small-molecule ion channel modulators in C. elegans channelopathy models.
Jiang Q et al.
Nature Communications, 2018
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
Perry MD et al.
The Journal of Physiology, 2016
The human ether-a-go-go-related gene activator NS1643 enhances epilepsy-associated KCNQ channels.
Li P et al.
The Journal of Pharmacology and Experimental Therapeutics, 2014
Hsp90 prevents interaction between CHIP and HERG proteins to facilitate maturation of wild-type and mutant HERG proteins.
Iwai C et al.
Cardiovascular Research, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 2012
Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.
Krishnan Y et al.
Pacing and Clinical Electrophysiology : Pace, 2012
Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability.
Li P et al.
Circulation Research, 2011
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Cardiac ion channel gene mutations in sudden infant death syndrome.
Otagiri T et al.
Pediatric Research, 2008
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
Nagaoka I et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Pharmacogenetics of drug-induced arrhythmias.
Abbott GW et al.
Expert Review of Clinical Pharmacology, 2008
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Berge KE et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2008
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.
Tan HL et al.
Circulation, 2006
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
Anderson CL et al.
Circulation, 2006
Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization.
Akhavan A et al.
Journal of Cell Science, 2005
Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2: additional amino acids generated by frameshift cause accelerated inactivation.
Sasano T et al.
Journal of Molecular and Cellular Cardiology, 2004
Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels.
Anson BD et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2004
Pharmacogenetic considerations in diseases of cardiac ion channels.
Anantharam A et al.
The Journal of Pharmacology and Experimental Therapeutics, 2003
Inherited arrhythmic disorders in Japan.
Hiraoka M
Journal of Cardiovascular Electrophysiology, 2003
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.
Paulussen A et al.
The Journal of Biological Chemistry, 2002
Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2.
Cui J et al.
The Journal of Biological Chemistry, 2001
Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.
Nakajima T et al.
Febs Letters, 2000
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1.
Kubota T et al.
Journal of Cardiovascular Electrophysiology, 2000
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
Berthet M et al.
Circulation, 1999