Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A1406T
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SCN1A

NM_001165963.4:p.A1406T

Associated Papers

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Lee YJ et al.

Neuroimage. Clinical, 2017

SCN1A mutational analysis in Korean patients with Dravet syndrome.

Lim BC et al.

Seizure, 2011

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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."