Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.G1625R
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SCN8A

NM_001330260.2:p.G1625R

Associated Papers

Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.

Quinn S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

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

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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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."