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
A physiologically-relevant intermediate state structure of a voltage-gated potassium channel.
Kyriakis E et al.
Nature Communications, 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
Extreme Sinus Bradycardia in a 36-Week Neonate Caused by De Novo Short QT Syndrome: A Case Report.
Minto N et al.
Journal of Paediatrics and Child Health, 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
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Roberts AM et al.
Medrxiv : the Preprint Server for Health 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
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD et al.
Journal of Neurophysiology, 2022
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 2022
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
Clinical and genetic spectrum of neonatal arrhythmia in a NICU.
Dai Y et al.
Translational Pediatrics, 2021
Physiological Functions, Biophysical Properties, and Regulation of KCNQ1 (KV7.1) Potassium Channels.
Sanguinetti MC et al.
Advances in Experimental Medicine and Biology, 2021
Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.
Wu X et al.
International Journal of Molecular Sciences, 2020
Heritable arrhythmias associated with abnormal function of cardiac potassium channels.
Crotti L et al.
Cardiovascular Research, 2020
The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.
Dixit G et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
Hammami Bomholtz S et al.
Pacing and Clinical Electrophysiology : Pace, 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
Delayed diagnosis of short QT syndrome concealed by pacemaker implant due to sick sinus syndrome.
Basarici I
Anatolian Journal of Cardiology, 2020
Proteomic Analysis of Myocardia Containing the Obscurin R4344Q Mutation Linked to Hypertrophic Cardiomyopathy.
Hu LR et al.
Frontiers in Physiology, 2020
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.
Zhou X et al.
Frontiers in Physiology, 2019
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 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
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling.
Lee HC et al.
Journal of Medical and Biological Engineering, 2017
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.
Antúnez-Argüelles E et al.
Gene, 2017
In silico investigation of a KCNQ1 mutation associated with short QT syndrome.
Adeniran I et al.
Scientific Reports, 2017
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D et al.
Jacc. Clinical Electrophysiology, 2017
Gating mechanisms underlying deactivation slowing by two KCNQ1 atrial fibrillation mutations.
Peng G et al.
Scientific Reports, 2017