31. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. (13th January 2017) Authors: Myers, Kenneth A.; Burgess, Rosemary; Afawi, Zaid; Damiano, John A.; Berkovic, Samuel F.; Hildebrand, Michael S.; Scheffer, Ingrid E. Journal: Epilepsia Issue: Volume 58:issue 2(2017) Page Start: e26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
32. Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy". (January 2020) Authors: Scheffer, Ingrid E.; Liao, Jianxiang Journal: European journal of paediatric neurology Issue: Volume 24(2020) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
33. Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials. (2nd August 2021) Authors: Li, Wenhui; Schneider, Amy L.; Scheffer, Ingrid E. Journal: Epilepsia Issue: Volume 62:issue 9(2021) Page Start: 2205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
34. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. (9th July 2020) Authors: Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathi... Journal: Epilepsia Issue: Volume 61:issue 7(2020) Page Start: e71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
35. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. (10th May 2016) Authors: Tinuper, Paolo; Bisulli, Francesca; Cross, J.H.; Hesdorffer, Dale; Kahane, Philippe; Nobili, Lino; Provini, Federica; Scheffer, Ingrid E.; Tassi, Laura; Vignatelli, Luca; Bassetti, Claudio; Cirignotta, Fabio; Derry, Christopher; Gambardella, Antonio; Guerrini, Renzo; Halasz, Peter; Licchetta, Lau... Journal: Neurology Issue: Volume 86:Number 19(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
36. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Issue 7 (17th May 2013) Authors: Bassuk, Alexander G.; Geraghty, Eileen; Wu, Shu; Mullen, Saul A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C. Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1722 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
37. DEPDC5 as a potential therapeutic target for epilepsy. (3rd June 2017) Authors: Myers, Kenneth A.; Scheffer, Ingrid E. Journal: Expert opinion on therapeutic targets Issue: Volume 21:Number 6(2017:Jun.) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
38. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. (15th March 2022) Authors: Brunklaus, Andreas; Pérez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Møller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie... Journal: Neurology Issue: Volume 98:Number 11(2022) Page Start: e1163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
39. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. (15th March 2022) Authors: Brunklaus, Andreas; Pérez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Møller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie... Journal: Neurology Issue: Volume 98:Number 11(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
40. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗