Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.T189M
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SCN1B

NM_001037.5:p.T189M

Associated Papers

Expanding clinical phenotype in CACNA1C related disorders: familial mesial temporal lobe epilepsy.

Wang C et al.

Acta Epileptologica, 2025

41177904 (PubMed )
Supplement: 42494_2025_231_MOESM1_ESM.docx

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

37653714 (PubMed )
Supplement: kcj-53-693-s003.xls › kcj-53-693-s003

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

Voltage-Gated Sodium Channel β1 Gene: An Overview.

Al-Ward H et al.

Human Heredity, 2020

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

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

Edokobi N et al.

Frontiers in Physiology, 2018

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Zhang L et al.

Mayo Clinic Proceedings, 2016

Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.

Hayashi K et al.

Circulation. Arrhythmia and Electrophysiology, 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

Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

Liu C et al.

Forensic Science International, 2014

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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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."