Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
Molecular mechanism for the interaction of MOG1 with the intracellular loop II of cardiac sodium channel Nav1.5 and its role in arrhythmias.
Bai X et al.
Journal of Molecular and Cellular Cardiology, 2025
Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.
Villarreal-Molina T et al.
Genes, 2021
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
Sacilotto L et al.
Arquivos Brasileiros De Cardiologia, 2017
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
Núñez L et al.
Heart Rhythm, 2013
The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.
Cheng J et al.
Physiological Genomics, 2011
Compound heterozygous SCN5A mutations: does the sum of the parts equal the whole?
Benson DW
Heart Rhythm, 2009
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
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