1. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (6th December 2020) Authors: Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arell... Journal: Epilepsia Issue: Volume 62:issue 1(2021) Page Start: e13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Issue 2 (13th July 2021) Authors: Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen... Journal: Annals of neurology Issue: Volume 90:Issue 2(2021) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗