1. Adult phenotype of KCNQ2 encephalopathy. Issue 6 (2nd April 2021) Authors: Boets, Stephanie; Johannesen, Katrine M; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Møller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 528 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An interview with Sarah Weckhuysen, 2017 Epilepsia Prize Winner for Clinical Research. (14th June 2017) Authors: Nehlig, Astrid; Sperling, Michael; Mathern, Gary Editors: Weckhuysen, Sarah Journal: Epilepsia Issue: Volume 58:issue 7(2017) Page Start: 1119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019) Authors: Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy. Issue 6 (7th October 2021) Authors: Macha, Arthur; Liebsch, Filip; Fricke, Steffen; Hetsch, Florian; Neuser, Franziska; Johannes, Lena; Kress, Vanessa; Djémié, Tania; Santamaria-Araujo, Jose A; Vilain, Catheline; Aeby, Alec; Van Bogaert, Patrick; Dejanovic, Borislav; Weckhuysen, Sarah; Meier, Jochen C; Schwarz, Guenter Journal: Human molecular genetics Issue: Volume 31:Issue 6(2022) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. (23rd February 2020) Authors: Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Dühring; Schorge, Stephanie; Baez‐Nieto, David; Wang, Hao‐Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; ... Journal: Epilepsia Issue: Volume 61:issue 3(2020) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. (24th November 2020) Authors: Balestrini, Simona; Mikati, Mohamad A.; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Pe... Journal: Neurology Issue: Volume 95:Number 21(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. (21st March 2023) Authors: Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De ... Journal: Neurology Issue: Volume 100:Number 12(2023) Page Start: e1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients. Issue 1 (December 2015) Authors: Panagiotakaki, Eleni; De Grandis, Elisa; Stagnaro, Michela; Heinzen, Erin; Fons, Carmen; Sisodiya, Sanjay; de Vries, Boukje; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid; Lesca, Gaëtan; Rabilloud, Muriel; Klich, Amna; Ramirez-Camacho, Alia; Ulate-Campos, Adriana; Campis... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗