Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R850Q
Back to variants list

SCN2A

NM_001040142.2:p.R850Q

Associated Papers

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.

Mao M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

Molecular and Cellular Context Influences SCN8A Variant Function.

Vanoye CG et al.

Biorxiv : the Preprint Server for Biology, 2023

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Ademuwagun IA et al.

Frontiers in Neurology, 2021

Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.

Solé L et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Distinct functional alterations in SCN8A epilepsy mutant channels.

Pan Y et al.

The Journal of Physiology, 2020

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Inhibition of sodium channel gating by trapping the domain II voltage sensor with protoxin II.

Sokolov S et al.

Molecular Pharmacology, 2008

Structure and function of the voltage sensor of sodium channels probed by a beta-scorpion toxin.

Cestèle S et al.

The Journal of Biological Chemistry, 2006

Beta-scorpion toxin effects suggest electrostatic interactions in domain II of voltage-dependent sodium channels.

Mantegazza M et al.

The Journal of Physiology, 2005

Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations.

Mason ER et al.

Eneuro, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."