1. No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. (4th February 2019) Authors: Schulz, Herbert; Ruppert, Ann‐Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; S. Vari, Maria; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Bianchi, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christop... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: e31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Issue 8 (August 2018) Authors: May, Patrick; Girard, Simon; Harrer, Merle; Bobbili, Dheeraj R; Schubert, Julian; Wolking, Stefan; Becker, Felicitas; Lachance-Touchette, Pamela; Meloche, Caroline; Gravel, Micheline; Niturad, Cristina E; Knaus, Julia; De Kovel, Carolien; Toliat, Mohamad; Polvi, Anne; Iacomino, Michele; Guerrero-... Journal: Lancet neurology Issue: Volume 17:Issue 8(2018) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. (30th December 2014) Authors: Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F... Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗