1. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Issue 4 (9th September 2016) Authors: Helbig, Katherine L.; Hedrich, Ulrike B.S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne‐Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao‐Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpää, Leena; Karle, Kathrin N.; S... Journal: Annals of neurology Issue: Volume 80:Issue 4(2016:Oct.) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Issue 3 (13th February 2016) Authors: Gardella, Elena; Becker, Felicitas; Møller, Rikke S.; Schubert, Julian; Lemke, Johannes R.; Larsen, Line H. G.; Eiberg, Hans; Nothnagel, Michael; Thiele, Holger; Altmüller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; Steinhoff, Bernhard; Nürnberg, Peter; Mang, Yuan; Bakke Mølle... Journal: Annals of neurology Issue: Volume 79:Issue 3(2016:Mar.) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy. (17th October 2019) Authors: Wengert, Eric R.; Tronhjem, Cathrine E.; Wagnon, Jacy L.; Johannesen, Katrine M.; Petit, Hayley; Krey, Ilona; Saga, Anusha U.; Panchal, Payal S.; Strohm, Samantha M.; Lange, Jörn; Kamphausen, Susanne B.; Rubboli, Guido; Lemke, Johannes R.; Gardella, Elena; Patel, Manoj K.; Meisler, Miriam H.; Møl... Journal: Epilepsia Issue: Volume 60:issue 11(2019) Page Start: 2277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Commentary: GATOR Complex‐Associated Epilepsies. (14th June 2017) Authors: Lemke, Johannes R. Journal: Epilepsia Issue: Volume 58:issue 7(2017) Page Start: 1121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Issue 10 (30th August 2022) Authors: Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabina; Kim, Sukhan; Myers, Scott J.; Peterson, Vincent; Ramsey, Amy J.; Teuscher, Daniel D.; Traynelis, Stephen F.; Lemke, Johannes R. Journal: Epilepsia Issue: Volume 63:Issue 10(2022) Page Start: e132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Current practice in diagnostic genetic testing of the epilepsies. Issue 5 (3rd November 2022) Authors: Krey, Ilona; Platzer, Konrad; Esterhuizen, Alina; Berkovic, Samuel F.; Helbig, Ingo; Hildebrand, Michael S.; Lerche, Holger; Lowenstein, Daniel; Møller, Rikke S.; Poduri, Annapurna; Sadleir, Lynette; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Wilmshurst, Jo M.; Weber, Yvonne; Lemke, Johannes R. Journal: Epileptic disorders Issue: Volume 24:Issue 5(2022) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. Issue 6 (27th July 2018) Authors: Ambrosino, Paolo; Soldovieri, Maria Virginia; Bast, Thomas; Turnpenny, Peter D.; Uhrig, Sabine; Biskup, Saskia; Döcker, Miriam; Fleck, Thilo; Mosca, Ilaria; Manocchio, Laura; Iraci, Nunzio; Taglialatela, Maurizio; Lemke, Johannes R. Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1198 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Issue 6 (8th September 2022) Authors: Platzer, Konrad; Sticht, Heinrich; Bupp, Caleb; Ganapathi, Mythily; Pereira, Elaine M.; Le Guyader, Gwenaël; Bilan, Frederic; Henderson, Lindsay B.; Lemke, Johannes R.; Taschenberger, Holger; Brose, Nils; Abou Jamra, Rami; Wojcik, Sonja M. Journal: Annals of neurology Issue: Volume 92:Issue 6(2022) Page Start: 958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. DEPDC5 mutations in genetic focal epilepsies of childhood. Issue 5 (14th April 2014) Authors: Lal, Dennis; Reinthaler, Eva M.; Schubert, Julian; Muhle, Hiltrud; Riesch, Erik; Kluger, Gerhard; Jabbari, Kamel; Kawalia, Amit; Bäumel, Christine; Holthausen, Hans; Hahn, Andreas; Feucht, Martha; Neophytou, Birgit; Haberlandt, Edda; Becker, Felicitas; Altmüller, Janine; Thiele, Holger; Lemke, Jo... Journal: Annals of neurology Issue: Volume 75:Issue 5(2014:May) Page Start: 788 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗