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
A novel gain-of-function mutation SCN5A-N470K associated with African American familial atrial fibrillation.
Cao X et al.
American Journal of Cardiovascular Disease, 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
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A 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
Effects of Mexiletine on a Race-specific Mutation in Nav1.5 Associated With Long QT Syndrome.
Wu X et al.
Frontiers in Physiology, 2022
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
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
Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.
Zhang C et al.
Molecular Genetics & Genomic Medicine, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.
Abou Hassan OK et al.
Bmc Medical Genetics, 2018
SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.
Kroncke BM et al.
Circulation. Genomic and Precision Medicine, 2018
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.
Giudicessi JR et al.
Circulation, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome.
Makarawate P et al.
Journal of the American Heart Association, 2017
Genetic polymorphisms study of pharmacogenomic VIP variants in Han ethnic of China's Shaanxi province.
Jin T et al.
Environmental Toxicology and Pharmacology, 2016
Cardiac sodium channel palmitoylation regulates channel availability and myocyte excitability with implications for arrhythmia generation.
Pei Z et al.
Nature Communications, 2016
Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.
Jin T et al.
Bmc Genetics, 2016
Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.
Jin T et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2015
Genetic polymorphisms in very important pharmacogenomic (VIP) variants in the Tibetan population.
Jin TB et al.
Genetics and Molecular Research : Gmr, 2015
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
Chiang DY et al.
Circulation. Arrhythmia and Electrophysiology, 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
Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.
Wang L et al.
Bmc Genetics, 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
Genetic polymorphism of pharmacogenomic VIP variants in the Deng people from the Himalayas in Southeast Tibet.
Shi X et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2015
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.
Mechakra A et al.
Gene, 2014
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E et al.
Clinical Genetics, 2013
Long QT syndrome-associated mutations in intrauterine fetal death.
Crotti L et al.
Jama, 2013
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
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.
Millat G et al.
Pediatric Cardiology, 2009
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
SCN5A mutation associated with acute myocardial infarction.
Oliva A et al.
Legal Medicine (tokyo, Japan), 2009
Ability of whole-genome SNP arrays to capture 'must have' pharmacogenomic variants.
Peters EJ et al.
Pharmacogenomics, 2008
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
Darbar D et al.
Circulation, 2008
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.
Hu D et al.
Heart Rhythm, 2007
Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
Mank-Seymour AR et al.
American Heart Journal, 2006