Publications:

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

Publication Date: 2020

Variant appearance in text: SCN1A: L1290V

PubMed Link: 33013363

Variant Present in the following documents:

• Main text

View BVdb publication page

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Nature Genetics

Carvill, Gemma L GL; Heavin, Sinéad B SB; Yendle, Simone C SC; McMahon, Jacinta M JM; O'Roak, Brian J BJ; Cook, Joseph J; Khan, Adiba A; Dorschner, Michael O MO; Weaver, Molly M; Calvert, Sophie S; Malone, Stephen S; Wallace, Geoffrey G; Stanley, Thorsten T; Bye, Ann M E AM; Bleasel, Andrew A; Howell, Katherine B KB; Kivity, Sara S; Mackay, Mark T MT; Rodriguez-Casero, Victoria V; Webster, Richard R; Korczyn, Amos A; Afawi, Zaid Z; Zelnick, Nathanel N; Lerman-Sagie, Tally T; Lev, Dorit D; Møller, Rikke S RS; Gill, Deepak D; Andrade, Danielle M DM; Freeman, Jeremy L JL; Sadleir, Lynette G LG; Shendure, Jay J; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Mefford, Heather C HC

Publication Date: 2013-07

Variant appearance in text: SCN1A: Leu1290Val

PubMed Link: 23708187

Variant Present in the following documents:

• Main text
• nihms474984.pdf

View BVdb publication page