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
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
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