SCN1A c.2944G>C ;(p.V982L)

Variant ID: 2-166894288-C-G

NM_001165963.1(SCN1A):c.2944G>C;(p.V982L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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

Frontiers In Neurology
Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T
Publication Date: 2021

Variant appearance in text: SCN1A: V982L
PubMed Link: 35002916
Variant Present in the following documents:
  • Main text
  • fneur-12-743726.pdf
View BVdb publication page



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

Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
Publication Date: 2020

Variant appearance in text: SCN1A: V982L
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
  • fphar-11-01276.pdf
View BVdb publication page



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

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 2944G>C; Val982Leu
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



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

Plos Genetics
Singh, Nanda A NA; Pappas, Chris C; Dahle, E Jill EJ; Claes, Lieve R F LR; Pruess, Timothy H TH; De Jonghe, Peter P; Thompson, Joel J; Dixon, Missy M; Gurnett, Christina C; Peiffer, Andy A; White, H Steve HS; Filloux, Francis F; Leppert, Mark F MF
Publication Date: 2009-09

Variant appearance in text: SCN1A: 2944G>C; V982L
PubMed Link: 19763161
Variant Present in the following documents:
  • Main text
  • pgen.1000649.pdf
View BVdb publication page