Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
SCN5A variant type-dependent risk prediction in Brugada syndrome.
Aizawa T 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, 2025
Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.
Kulichik OE et al.
International Journal of Molecular Sciences, 2025
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R et al.
Circulation, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
Lopes-Marques M et al.
Peerj, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome.
Tambi R et al.
American Journal of Physiology. Heart and Circulatory Physiology, 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
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne YD et al.
Circulation. Genomic and Precision Medicine, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.
Groome JR et al.
Frontiers in Pharmacology, 2020
Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.
Neubauer J et al.
International Journal of Legal Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Systematic re-evaluation of SCN5A variants associated with Brugada syndrome.
Denham NC et al.
Journal of Cardiovascular Electrophysiology, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
Sinus Bradycardia in Carriers of the SCN5A-1795insD Mutation: Unraveling the Mechanism through Computer Simulations.
Wilders R
International Journal of Molecular Sciences, 2018
Cellular Mechanisms of Sinus Node Dysfunction in Carriers of the SCN5A-E161K Mutation and Role of the H558R Polymorphism.
Wilders R
Frontiers in Physiology, 2018
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
p.N1380del mutation in the pore-forming region of SCN5A gene is associated with cardiac conduction disturbance and ventricular tachycardia.
Yang Z et al.
Acta Biochimica Et Biophysica Sinica, 2017
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
Veltmann C et al.
Journal of the American Heart Association, 2016
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.
Milanesi R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015
An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
Nikulina SY et al.
Genetic Testing and Molecular Biomarkers, 2015
p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.
Hothi SS et al.
Journal of Cardiovascular Electrophysiology, 2015
Pacemaker activity of the human sinoatrial node: effects of HCN4 mutations on the hyperpolarization-activated current.
Verkerk AO 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, 2014
KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?
Abbott GW
Expert Review of Clinical Pharmacology, 2013
A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.
Nakajima S et al.
Internal Medicine (tokyo, Japan), 2013
[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].
Selly JB et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012
Mouse Models of SCN5A-Related Cardiac Arrhythmias.
Derangeon M et al.
Frontiers in Physiology, 2012
Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models.
Huang CL et al.
Frontiers in Physiology, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012