Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.
Fan J et al.
Frontiers in Cardiovascular Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation.
Lin L et al.
Life (basel, Switzerland), 2022
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Zaklyazminskaya E et al.
Genes, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.
Blandin CE et al.
Cells, 2021
Molecular Pathology of Sodium Channel Beta-Subunit Variants.
Angsutararux P et al.
Frontiers in Pharmacology, 2021
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.
Paludan-Müller C et al.
European Journal of Human Genetics : Ejhg, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Thauvin-Robinet C et al.
European Journal of Human Genetics : Ejhg, 2019
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Hosseini SM et al.
Circulation, 2018
Cardiac channelopathies: The role of sodium channel mutations.
Fonseca DJ et al.
Revista Portuguesa De Cardiologia, 2018
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Lin Y et al.
Circulation. Cardiovascular Genetics, 2017
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Sodium channel haploinsufficiency and structural change in ventricular arrhythmogenesis.
Jeevaratnam K et al.
Acta Physiologica (oxford, England), 2016
The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Winkel BG et al.
Heart Rhythm, 2015
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Le Scouarnec S et al.
Human Molecular Genetics, 2015
Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2015
Sodium channel β subunits: emerging targets in channelopathies.
O'Malley HA et al.
Annual Review of Physiology, 2015
Brugada syndrome risk loci seem protective against atrial fibrillation.
Andreasen L et al.
European Journal of Human Genetics : Ejhg, 2014
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.
Zhang Z et al.
Scandinavian Journal of Pain, 2014
Atrial fibrillation: the role of common and rare genetic variants.
Olesen MS et al.
European Journal of Human Genetics : Ejhg, 2014
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Olesen MS et al.
Heart Rhythm, 2014
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
Risgaard B et al.
Clinical Genetics, 2013
Channelopathies from mutations in the cardiac sodium channel protein complex.
Adsit GS et al.
Journal of Molecular and Cellular Cardiology, 2013
Is a novel SCN3B mutation commonly found in SCN5A-negative Brugada syndrome patients?
Kurakami K et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Biology of cardiac sodium channel Nav1.5 expression.
Rook MB et al.
Cardiovascular Research, 2012
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation.
Olesen MS et al.
Cardiovascular Research, 2011
Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.
Wang P et al.
Biochemical and Biophysical Research Communications, 2010
Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.
Valdivia CR et al.
Cardiovascular Research, 2010
Genetics of Brugada syndrome.
Campuzano O et al.
Current Opinion in Cardiology, 2010
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.
Hu D et al.
Circulation. Cardiovascular Genetics, 2009
Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.
Baroudi G et al.
The Canadian Journal of Cardiology, 2004
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.
Holst AG et al.
The Canadian Journal of Cardiology, 0
Distinguishing pathogenic mutations from innocuous rare variants in gene discovery for Brugada syndrome.
Roberts JD et al.
The Canadian Journal of Cardiology, 0