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
Congenital Short QT Syndrome - Review Focused on KCNQ1 p.Val141Met Variant.
Horie M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2025
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 2025
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Human Genetics of Cardiac Arrhythmias.
Schulze-Bahr E et al.
Advances in Experimental Medicine and Biology, 2024
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.
Hancox JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.
Verkerk AO et al.
International Journal of Molecular Sciences, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 2022
Preclinical short QT syndrome models: studying the phenotype and drug-screening.
Fan X 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, 2022
A unique mechanism of inactivation gating of the Kv channel family member Kv7.1 and its modulation by PIP2 and calmodulin.
Lipinsky M et al.
Science Advances, 2020
The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.
Dixit G et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.
Yuniarti AR et al.
International Journal for Numerical Methods in Biomedical Engineering, 2018
Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline.
Villatoro-Gómez K et al.
Biochemical Pharmacology, 2018
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
El-Battrawy I et al.
Journal of the American Heart Association, 2018
Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.
Whittaker DG et al.
Frontiers in Physiology, 2018
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
In silico investigation of a KCNQ1 mutation associated with short QT syndrome.
Adeniran I et al.
Scientific Reports, 2017
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome.
Cunjin Luo et al.
Annual International Conference of the Ieee Engineering in Medicine and Biology Society. Ieee Engineering in Medicine and Biology Society. Annual International Conference, 2017
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles.
Cunjin Luo et al.
Annual International Conference of the Ieee Engineering in Medicine and Biology Society. Ieee Engineering in Medicine and Biology Society. Annual International Conference, 2017
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 2016
Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
Garcia J et al.
Frontiers in Cardiovascular Medicine, 2016
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.
Moreno C et al.
Cardiovascular Research, 2015
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.
Wu ZJ et al.
Journal of Geriatric Cardiology : Jgc, 2015
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT et al.
International Journal of Cardiology, 2015
Short QT Syndrome - Review of Diagnosis and Treatment.
Rudic B et al.
Arrhythmia & Electrophysiology Review, 2014
Recent molecular insights from mutated IKS channels in cardiac arrhythmia.
Dvir M et al.
Current Opinion in Pharmacology, 2014
Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels.
Bodi I et al.
Journal of Cardiovascular Electrophysiology, 2013
β-blockers in congenital short-QT syndrome as ion channel blockers.
Abriel H et al.
Journal of Cardiovascular Electrophysiology, 2013
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.
Pérez Riera AR et al.
Cardiology Journal, 2013
Pro-arrhythmogenic effects of the S140G KCNQ1 mutation in human atrial fibrillation - insights from modelling.
Kharche S et al.
The Journal of Physiology, 2012
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR et al.
Nature Reviews. Cardiology, 2012
Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.
Henrion U et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2012
Increased vulnerability of human ventricle to re-entrant excitation in hERG-linked variant 1 short QT syndrome.
Adeniran I et al.
Plos Computational Biology, 2011
The short QT syndrome: proposed diagnostic criteria.
Gollob MH et al.
Journal of the American College of Cardiology, 2011
Short QT syndrome: from bench to bedside.
Patel C et al.
Circulation. Arrhythmia and Electrophysiology, 2010
Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation.
El Harchi A et al.
Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2010
Congenital short QT syndrome.
Crotti L et al.
Indian Pacing and Electrophysiology Journal, 2010