Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.R125L
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SCN1B

NM_001037.5:p.R125L

Associated Papers

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

Atlı E et al.

Balkan Medical Journal, 2023

SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.

Zhu Z et al.

Children (basel, Switzerland), 2022

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

SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.

Gong JE et al.

Medicine, 2019

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

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

Ramadan W et al.

Clinical Genetics, 2017

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

Do mutations in SCN1B cause Dravet syndrome?

Kim YO et al.

Epilepsy Research, 2013

New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.

Fendri-Kriaa N et al.

European Journal of Neurology, 2011

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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."