Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.M1765I
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SCN3A

NM_006922.4:p.M1765I

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

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Clatot J et al.

Epilepsia, 2025

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

Parental germline mosaicism in SCN3A-related severe developmental disorder.

Inuzuka LM et al.

Brain & Development, 2021

Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].

Inuzuka LM et al.

Brain & Development, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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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."