Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.E1870D
Back to variants list

SCN8A

NM_001330260.2:p.E1870D

Associated Papers

SCN8A Encephalopathy: Case Report and Literature Review.

Fan HC et al.

Neurology International, 2021

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.

Wong JC et al.

Frontiers in Pharmacology, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

Boerma RS et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2016

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."