Publications:

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Epilepsy Research

Butler, Kameryn M KM; da Silva, Cristina C; Shafir, Yuval Y; Weisfeld-Adams, James D JD; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-01

Variant appearance in text: GRIN2A: 4353A>T; R1451S

PubMed Link: 27875746

Variant Present in the following documents:

• Main text

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: GRIN2A: R1451S

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page