1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. (October 2019) Authors: Fernández-Marmiesse, Ana; Sánchez-Iglesias, Sofía; Darling, Alejandra; O'Callaghan, María M.; Tonda, Raúl; Jou, Cristina; Araújo-Vilar, David Journal: Seizure Issue: Volume 71(2019) Page Start: 161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗