Associated Papers
Common Genetic Variants of The Cardiac Sodium Channel Alter Patient Response to Class 1b Antiarrhythmics.
Marras M et al.
Biorxiv : the Preprint Server for Biology, 2026
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Ethnic-Related Sodium Voltage-Gated Channel α Subunit 5 Polymorphisms Shape the In Vitro Pharmacological Action of Amiodarone upon Nav1.5.
Joviano-Santos JV et al.
Molecular Pharmacology, 2021
Structural Basis for Pore Blockade of the Human Cardiac Sodium Channel Nav 1.5 by the Antiarrhythmic Drug Quinidine*.
Li Z et al.
Angewandte Chemie (international Ed. in English), 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.
Paludan-Müller C et al.
European Journal of Human Genetics : Ejhg, 2019
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.
Frasier CR et al.
Stem Cell Reports, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.
Giudicessi JR et al.
Circulation, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
Berghuis B et al.
Epilepsy Research, 2015
Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact.
Napolitano C et al.
Current Opinion in Genetics & Development, 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
Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.
Weeke P et al.
Circulation. Cardiovascular Genetics, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
Magnani JW et al.
Circulation. Cardiovascular Genetics, 2014
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Atrial fibrillation: the role of common and rare genetic variants.
Olesen MS et al.
European Journal of Human Genetics : Ejhg, 2014
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Andreasen C et al.
The Canadian Journal of Cardiology, 2013
Long QT syndrome-associated mutations in intrauterine fetal death.
Crotti L et al.
Jama, 2013
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5.
Schroeter A et al.
Journal of Molecular and Cellular Cardiology, 2010
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.
Samani K et al.
Heart Rhythm, 2009
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
Darbar D et al.
Circulation, 2008
Cardiac sodium channels and inherited electrophysiologic disorders: a pharmacogenetic overview.
Smits JP et al.
Expert Opinion on Pharmacotherapy, 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
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.
Tan BH et al.
Cardiovascular Research, 2007
[Clinical and genetic characteristics of long QT syndrome].
Medeiros-Domingo A et al.
Revista Espanola De Cardiologia, 2007
A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents.
Shuraih M et al.
Journal of Cardiovascular Electrophysiology, 2007
Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.
Tan BH et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2006
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.
Plant LD et al.
The Journal of Clinical Investigation, 2006