Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.I172V
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SCN2A

NM_001040142.2:p.I172V

Associated Papers

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Crawford K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf

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

Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.

Pan X et al.

Science (new York, N.y.), 2019

30765605 (PubMed )
Supplement: aaw2999-pan-sm.pdf

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

Saitoh M et al.

Epilepsy Research, 2015

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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."