Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V1758A
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SCN8A

NM_001330260.2:p.V1758A

Associated Papers

Structure and function of voltage-gated sodium channel Nav1.6: Involvement in the pathological process of neural injury.

Wang H et al.

Neural Regeneration Research, 2025

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Johannesen KM et al.

Brain : a Journal of Neurology, 2022

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization.

Zaman T et al.

Annals of Clinical and Translational Neurology, 2019

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM et al.

Epilepsia, 2019

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J et al.

Jama Network Open, 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."