Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.E936K
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SCN8A

NM_001330260.2:p.E936K

Associated Papers

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File007.pdf

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

Mangano GD et al.

Molecular Genetics & Genomic Medicine, 2022

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM et al.

Epilepsia, 2019

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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."