Associated Papers
Functional reassessment of Nav1.5 T559A reveals loss-of-function in a variant commonly used as wild type.
Melgari D et al.
American Journal of Physiology. Cell Physiology, 2025
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
Whole-exome sequencing reveals genomic landscape of intrahepatic cholangiocarcinoma and identifies SAV1 as a potential driver.
Zhou ZJ et al.
Nature Communications, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 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
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.
van Bakel BMA et al.
Heartrhythm Case Reports, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.
Jaouadi H et al.
International Journal of Molecular Sciences, 2022
Brugada Syndrome: Different Experimental Models and the Role of Human Cardiomyocytes From Induced Pluripotent Stem Cells.
Li Y et al.
Journal of the American Heart Association, 2022
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
Gray B et al.
Circulation. Genomic and Precision 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
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
SCN5A gene variants as potential markers of the progression of chronic chagasic cardiac alterations.
Blasco RL et al.
Parasitology International, 2021
Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.
Li X et al.
Annals of Human Genetics, 2020
Genetic variants in incident SUDEP cases from a community-based prospective cohort with epilepsy.
Ge Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal CAA et al.
Journal of the American Heart Association, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Raju H et al.
Bmc Cardiovascular Disorders, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Persistent QT Prolongation in a Child with Gitelman Syndrome and SCN5A H558R Polymorphism.
Tsukakoshi T et al.
International Heart Journal, 2018
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
Influence of genetic modifiers on sudden cardiac death cases.
Jenewein T et al.
International Journal of Legal Medicine, 2018
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.
Giudicessi JR et al.
Circulation, 2018
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Marcondes L et al.
Plos One, 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
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Van Malderen SCH et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Long QT syndrome and sudden unexpected infant death.
Van Niekerk C et al.
Journal of Clinical Pathology, 2017
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.
Dewar LJ et al.
Circulation. Cardiovascular Genetics, 2017
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.
Chadda KR et al.
Pflugers Archiv : European Journal of Physiology, 2017
Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing.
Tester DJ et al.
Cardiology in the Young, 2017
Whole-exome sequencing of a family with local anesthetic resistance.
Clendenen N et al.
Minerva Anestesiologica, 2016
Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.
Ortiz-Bonnin B et al.
Pflugers Archiv : European Journal of Physiology, 2016
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
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Daumy X et al.
International Journal of Cardiology, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology.
Detta N et al.
Biochimica Et Biophysica Acta, 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