Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.D153N
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SCN1B

NM_001037.5:p.D153N

Associated Papers

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

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.

Nguyen YTM et al.

Scientific Reports, 2024

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P2-dominant

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Almomani R et al.

International Journal of Molecular Sciences, 2023

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

Molecular Pathology of Sodium Channel Beta-Subunit Variants.

Angsutararux P et al.

Frontiers in Pharmacology, 2021

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

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

Edokobi N et al.

Frontiers in Physiology, 2018

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

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

Wilde AA et al.

Circulation Research, 2011

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

Watanabe H et al.

Circulation. Arrhythmia and Electrophysiology, 2009

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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."