Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V929F
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SCN8A

NM_001330260.2:p.V929F

Associated Papers

Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.

Hammer MF

Bioscience Reports, 2025

SCN8A Epileptic Encephalopathy Mutation Displays a Loss-of-Function Phenotype and Distinct Insensitivity to Valproate.

Zhu Y et al.

Acs Chemical Neuroscience, 2025

A genetic interaction network model of a complex neurological disease.

Tyler AL et al.

Genes, Brain, and Behavior, 2014

Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy.

Oliva MK et al.

Neurobiology of Disease, 2014

The molecular biology of genetic-based epilepsies.

Deng H et al.

Molecular Neurobiology, 2014

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.

O'Brien JE et al.

Frontiers in Genetics, 2013

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

Meisler MH et al.

The Journal of Physiology, 2010

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.

Papale LA et al.

Human Molecular Genetics, 2009

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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."