Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.L1865P
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SCN8A

NM_001330260.2:p.L1865P

Associated Papers

SCN8A Encephalopathy: Case Report and Literature Review.

Fan HC et al.

Neurology International, 2021

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.

Wong JC et al.

Frontiers in Pharmacology, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N et al.

Journal of Medical Genetics, 2016

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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."