Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.R850L
Back to variants list

SCN8A

NM_001330260.2:p.R850L

Associated Papers

Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.

Maalej M et al.

Journal of Molecular Neuroscience : Mn, 2026

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E et al.

Neurology, 2018

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."