Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.I106F
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SCN1B

NM_001037.5:p.I106F

Associated Papers

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

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Ding J et al.

Frontiers in Neurology, 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-linked early infantile developmental and epileptic encephalopathy.

Aeby A et al.

Annals of Clinical and Translational Neurology, 2019

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Darras N et al.

American Journal of Medical Genetics. Part A, 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

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 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

Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.

Reid CA et al.

Brain : a Journal of Neurology, 2014

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

Ogiwara I et al.

Epilepsia, 2012

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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."