Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.E74del1
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SCN1B

NM_001037.5:p.E74del1

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

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

Gong JE et al.

Medicine, 2019

A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.

Egri C et al.

Epilepsia, 2012

A functional null mutation of SCN1B in a patient with Dravet syndrome.

Patino GA et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

Genes and loci involved in febrile seizures and related epilepsy syndromes.

Audenaert D et al.

Human Mutation, 2006

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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."