Publications:

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: 4655G>A; Cys1552Tyr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Incidence of Dravet Syndrome in a US Population.

Pediatrics

Wu, Yvonne W YW; Sullivan, Joseph J; McDaniel, Sharon S SS; Meisler, Miriam H MH; Walsh, Eileen M EM; Li, Sherian Xu SX; Kuzniewicz, Michael W MW

Publication Date: 2015-11

Variant appearance in text: SCN1A: 4655G>A; Cys1552Tyr

PubMed Link: 26438699

Variant Present in the following documents:

• Main text

View BVdb publication page