1. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019) Authors: Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic implications of genetic copy number variation in epilepsy plus. (13th March 2019) Authors: Coppola, Antonietta; Cellini, Elena; Stamberger, Hannah; Saarentaus, Elmo; Cetica, Valentina; Lal, Dennis; Djémié, Tania; Bartnik‐Glaska, Magdalena; Ceulemans, Berten; Helen Cross, J.; Deconinck, Tine; Masi, Salvatore De; Dorn, Thomas; Guerrini, Renzo; Hoffman‐Zacharska, Dorotha; Kooy, Frank; Lag... Other Names: Lehesjioki Anna‐Elina investigator.; Craiu Dana investigator.; Talvik Tiina investigator.; Caglayan Hande investigator.; Serratosa Jose investigator.; Sterbova Katalin investigator.; Møller Rikke S. investigator.; Hjalgrim Helle investigator.; Lerche Holger investigator.; Weber Yvonne investigato... Journal: Epilepsia Issue: Volume 60:issue 4(2019) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. (13th September 2016) Authors: Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Møller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Søndergård, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H.G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klei... Journal: Neurology Issue: Volume 87:Number 11(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗