Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.V982L
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SCN1A

NM_001165963.4:p.V982L

Associated Papers

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J et al.

Frontiers in Neurology, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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

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

Saitoh M et al.

Epilepsy Research, 2015

Clinical and genetic features of acute encephalopathy in children taking theophylline.

Saitoh M et al.

Brain & Development, 2015

Mutations of the SCN1A gene in acute encephalopathy.

Saitoh M et al.

Epilepsia, 2012

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA et al.

Plos Genetics, 2009

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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."