Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.S232P
Back to variants list

SCN8A

NM_001330260.2:p.S232P

Associated Papers

A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.

Dame HB et al.

Biorxiv : the Preprint Server for Biology, 2025

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35696452 (PubMed )
Supplement: awac210_supplementary_data.zip › brain-2022-00093-File010.pdf

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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."