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: 3824G>T; Gly1275Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: G1275V

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Epilepsia

Veeramah, Krishna R KR; Johnstone, Laurel L; Karafet, Tatiana M TM; Wolf, Daniel D; Sprissler, Ryan R; Salogiannis, John J; Barth-Maron, Asa A; Greenberg, Michael E ME; Stuhlmann, Till T; Weinert, Stefanie S; Jentsch, Thomas J TJ; Pazzi, Marjorie M; Restifo, Linda L LL; Talwar, Dinesh D; Erickson, Robert P RP; Hammer, Michael F MF

Publication Date: 2013-07

Variant appearance in text: SCN1A: Gly1275Val

PubMed Link: 23647072

Variant Present in the following documents:

• Main text

View BVdb publication page