Publications:

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Genes

Cornejo-Sanchez, Diana M DM; Acharya, Anushree A; Bharadwaj, Thashi T; Marin-Gomez, Lizeth L; Pereira-Gomez, Pilar P; Nouel-Saied, Liz M LM; University Of Washington Center For Mendelian Genomics, ; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Mefford, Heather C HC; Schrauwen, Isabelle I; Carrizosa-Moog, Jaime J; Cornejo-Ochoa, William W; Pineda-Trujillo, Nicolas N; Leal, Suzanne M SM

Publication Date: 2022-04-25

Variant appearance in text: SCN1A: 3530C>G

PubMed Link: 35627139

Variant Present in the following documents:

• Main text
• genes-13-00754.pdf

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: SCN1A: 3530C>G; Pro1177Arg

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page