Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio 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
Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.
Chen GX et al.
Ebiomedicine, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population.
Wang LL et al.
Journal of Cardiovascular Development and Disease, 2022
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.
Yamane H et al.
International Heart Journal, 2022
Brugada Syndrome: New Insights From Cardiac Magnetic Resonance and Electroanatomical Imaging.
Pappone C et al.
Circulation. Arrhythmia and Electrophysiology, 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
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.
Robyns T et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2018
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.
Savastano S et al.
Heart Rhythm, 2014
Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.
Kodama T et al.
International Journal of Cardiology, 2013