Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.S217P
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SCN8A

NM_001330260.2:p.S217P

Associated Papers

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

Dame HB et al.

Biorxiv : the Preprint Server for Biology, 2025

Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy.

Gjerulfsen CE et al.

Epilepsia, 2025

Molecular and cellular context influences SCN8A variant function.

Vanoye CG et al.

Jci Insight, 2024

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

Hack JB et al.

Biology Open, 2024

38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1

Molecular and Cellular Context Influences SCN8A Variant Function.

Vanoye CG et al.

Biorxiv : the Preprint Server for Biology, 2023

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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."