Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
Clinical Features of Brugada Syndrome Patients With SCN5A Variants.
Okamura S et al.
Journal of Cardiovascular Electrophysiology, 2025
The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels.
Elhanafy E et al.
The Journal of General Physiology, 2025
Understanding the role of mutations in voltage-gated sodium ion channels for cardiovascular disorders.
Jorgensen C
The Journal of General Physiology, 2025
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Searching for a Solution: A Case Report on Multifocal Ectopic Purkinje-Related Premature Contractions Syndrome.
Keževičiūtė M et al.
Medicina (kaunas, Lithuania), 2025
ELUCIDATING THE DIFFERENTIAL IMPACTS OF EQUIVALENT GATING-CHARGE MUTATIONS IN VOLTAGE-GATED SODIUM CHANNELS.
Elhanafy E et al.
Biorxiv : the Preprint Server for Biology, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 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
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C et al.
Biomolecules, 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
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.
Rico Y et al.
Genes, 2021
Disease variant prediction with deep generative models of evolutionary data.
Frazer J et al.
Nature, 2021
Clinical characteristics and risk of arrhythmic events in patients younger than 12 years diagnosed with Brugada syndrome.
Righi D et al.
Heart Rhythm, 2021
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Ishikawa T et al.
European Heart Journal, 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
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Kolokotronis K et al.
Journal of Clinical Medicine, 2020
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
Clinical and Genetic Findings in Children Presenting With Ventricular Fibrillation as the First Manifestation of Cardiovascular Disease.
Hylind RJ et al.
Journal of the American Heart Association, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Mexiletine Shortens the QT Interval in Patients With Potassium Channel-Mediated Type 2 Long QT Syndrome.
Bos JM et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.
Moreau A et al.
Frontiers in Cardiovascular Medicine, 2018
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Yamagata K et al.
Circulation, 2017
The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya E et al.
Biochimica Et Biophysica Acta, 2016
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
Kinoshita K et al.
Heart Rhythm, 2016
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
Wang L et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?
Gosselin-Badaroudine P et al.
Channels (austin, Tex.), 2014
Biophysics, pathophysiology, and pharmacology of ion channel gating pores.
Moreau A et al.
Frontiers in Pharmacology, 2014
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
Sommariva E et al.
European Journal of Human Genetics : Ejhg, 2013
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.
Watanabe H et al.
Circulation, 2011
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
Cheng J et al.
Clinical and Translational Science, 2010
Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection?
Bezzina CR et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy.
Ge J et al.
Circulation. Arrhythmia and Electrophysiology, 2008