Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R et al.
Circulation, 2025
The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.
Vouloagkas I et al.
Heart Failure Reviews, 2025
The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.
Begovic M et al.
International Journal of Molecular Sciences, 2024
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
SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.
Shi J et al.
Gene, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.
Campostrini G et al.
Cardiovascular Research, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 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
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.
Rico Y et al.
Genes, 2021
Brugada Syndrome: New Insights From Cardiac Magnetic Resonance and Electroanatomical Imaging.
Pappone C et al.
Circulation. Arrhythmia and Electrophysiology, 2021
Nonsense suppression therapies in human genetic diseases.
Martins-Dias P et al.
Cellular and Molecular Life Sciences : Cmls, 2021
iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.
Nijak A et al.
International Journal of Molecular Sciences, 2021
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Vahidnezhad H et al.
Scientific Reports, 2020
SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells.
Daniel LL et al.
Heart Rhythm, 2019
Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.
Kean AC et al.
Cardiology in the Young, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.
Strege PR et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.
Liu J et al.
Plos One, 2018
Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy.
Hayano M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2017
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.
Veerman CC et al.
Journal of the American Heart Association, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Human iPSC-Derived Cardiomyocytes for Investigation of Disease Mechanisms and Therapeutic Strategies in Inherited Arrhythmia Syndromes: Strengths and Limitations.
Casini S et al.
Cardiovascular Drugs and Therapy, 2017
Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.
Roston TM et al.
Clinical Medicine Insights. Cardiology, 2017
Readthrough-Promoting Drugs Gentamicin and PTC124 Fail to Rescue Nav1.5 Function of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Carrying Nonsense Mutations in the Sodium Channel Gene SCN5A.
Kosmidis G et al.
Circulation. Arrhythmia and Electrophysiology, 2016
The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya E et al.
Biochimica Et Biophysica Acta, 2016
Cardiac Sodium Channel Mutations: Why so Many Phenotypes?
Liu M et al.
Current Topics in Membranes, 2016
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.
Thongnak C et al.
Disease Markers, 2016
Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.
Moreau A et al.
The Journal of General Physiology, 2015
Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.
Moreau A et al.
Frontiers in Pharmacology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Cardiac sodium channel mutations: why so many phenotypes?
Liu M et al.
Nature Reviews. Cardiology, 2014
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
Beckermann TM et al.
Heart Rhythm, 2014
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
Provocation of an autoimmune response to cardiac voltage-gated sodium channel NaV1.5 induces cardiac conduction defects in rats.
Korkmaz S et al.
Journal of the American College of Cardiology, 2013
A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?
Shen C et al.
Disease Markers, 2013
The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.
Chockalingam P et al.
Heart Rhythm, 2012
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
Calloe K et al.
Canadian Journal of Physiology and Pharmacology, 2011
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.
Watanabe H et al.
Circulation, 2011
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
Amin AS 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, 2011
LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice.
Zhang T et al.
International Journal of Cardiology, 2011