Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.V1769A
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SCN3A

NM_006922.4:p.V1769A

Associated Papers

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects.

Wang PY et al.

Frontiers in Neurology, 2026

Structure and Function of Sodium Channel Nav1.3 in Neurological Disorders.

Liao S et al.

Cellular and Molecular Neurobiology, 2023

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

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Ademuwagun IA et al.

Frontiers in Neurology, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Zaman T et al.

Annals of Neurology, 2018

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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."