Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.E87Q
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SCN1B

NM_001037.5:p.E87Q

Associated Papers

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA 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, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

New focus on cardiac voltage-gated sodium channel β1 and β1B: Novel targets for treating and understanding arrhythmias?

Williams ZJ et al.

Heart Rhythm, 2025

Cardiac sodium channel complexes and arrhythmia: structural and functional roles of the β1 and β3 subunits.

Salvage SC et al.

The Journal of Physiology, 2023

Generation of SCN1B knock out induced pluripotent stem cell (iPSC) line (refractory epilepsy syndrome and Brugada syndrome related cell line).

Shan W et al.

Stem Cell Research, 2021

Frequency of Irritable Bowel Syndrome in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern.

Sarica AS et al.

The American Journal of Cardiology, 2021

Molecular Pathology of Sodium Channel Beta-Subunit Variants.

Angsutararux P et al.

Frontiers in Pharmacology, 2021

Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

El-Battrawy I et al.

Frontiers in Cell and Developmental Biology, 2019

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.

Baroni D et al.

Human Mutation, 2018

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants.

Gray B et al.

Heart Rhythm, 2018

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

Voltage-Gated Sodium Channel β Subunits and Their Related Diseases.

Bouza AA et al.

Handbook of Experimental Pharmacology, 2018

Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.

Edokobi N et al.

Frontiers in Physiology, 2018

Mutation E87Q of the β1-subunit impairs the maturation of the cardiac voltage-dependent sodium channel.

Baroni D et al.

Scientific Reports, 2017

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.

Hasdemir C et al.

Heart Rhythm, 2015

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases.

Baroni D et al.

Frontiers in Pharmacology, 2015

Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant.

Yuan L et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2014

Mouse Models of SCN5A-Related Cardiac Arrhythmias.

Derangeon M et al.

Frontiers in Physiology, 2012

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.

Watanabe H et al.

The Journal of Clinical Investigation, 2008

Mouse models of SCN5A-related cardiac arrhythmias.

Charpentier F et al.

Progress in Biophysics and Molecular Biology, 0

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.

Holst AG et al.

The Canadian Journal of Cardiology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."