Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.I1468R
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SCN3A

NM_006922.4:p.I1468R

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

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Zaman T et al.

Annals of Neurology, 2020

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