Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R1642M
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SCN1A

NM_001165963.4:p.R1642M

Associated Papers

Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Nakajima T et al.

Channels (austin, Tex.), 2019

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

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome.

Lee HF et al.

Brain & Development, 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."