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Laflamme, Christy W.; Karimi, Karim; Rastin, Cassandra; Almanza Fuerte, Edith P.; Allan, Talia; Russ-Hall, Sophie J.; Schneider, Amy L.; Stobo, Daniel; Lesca, Gaetan; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Scheffer, Ingrid E.; Sadikovic, Bekim; Mefford, Heather C. Share Save POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaSymonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M. Share Save Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Viswanathan, Sindhu; Oliver, Karen L.; Regan, Brigid M.; Schneider, Amy L.; Myers, Candace T.; Mehaffey, Michele G.; LaCroix, Amy J.; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M.; Chiu, Annie T. G.; Roza, Eugenia; Teleanu, Raluca I.; Malone, Stephen; Leventer, Richard J.; Gill, Deepak; Berkovic, Samuel F.; Hildebrand, Michael S.; Goad, Beatrice S.; Howell, Katherine B.; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Zuberi, Sameer M.; Mefford, Heather C.; Scheffer, Ingrid E. Share Save Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesGallagher, Declan; Perez-Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas Share Save Share Save POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesSmallwood, Kelly; Watt, Kristin E. N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Sacoto, Maria J. Guillen; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A.; Weaver, K. Nicole Share Save Share Save GIGYF1 disruption associates with autism and impaired IGF-1R signalingChen, Guodong; Yu, Bin; Tan, Senwei; Tan, Jieqiong; Jia, Xiangbin; Zhang, Qiumeng; Zhang, Xiaolei; Jiang, Qian; Hua, Yue; Han, Yaoling; Luo, Shengjie; Hoekzema, Kendra; Bernier, Raphael A.; Earl, Rachel K.; Kurtz-Nelson, Evangeline C.; Idleburg, Michaela J.; Madan-Khetarpal, Suneeta; Clark, Rebecca; Sebastian, Jessica; Fernandez-Jaen, Alberto; Alvarez, Sara; King, Staci D.; Ramos, Luiza L. P.; Santos, Mara Lucia S. F.; Martin, Donna M.; Brooks, Dan; Symonds, Joseph D.; Cutcutache, Ioana; Pan, Qian; Hu, Zhengmao; Yuan, Ling; Eichler, Evan E.; Xia, Kun; Guo, Hui Share Save Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypesBrunger, Tobias; Perez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Moller, Rikke S.; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R.; Brunklaus, Andreas; Traynelis, Stephen F.; May, Patrick; Lal, Dennis Share Save SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceEl Chehadeh, Salima; Han, Kyung Ah; Kim, Dongwook; Jang, Gyubin; Bakhtiari, Somayeh; Lim, Dongseok; Kim, Hee Young; Kim, Jinhu; Kim, Hyeonho; Wynn, Julia; Chung, Wendy K.; Vitiello, Giuseppina; Cutcutache, Ioana; Page, Matthew; Gecz, Jozef; Harper, Kelly; Han, Ah-Reum; Kim, Ho Min; Wessels, Marja; Bayat, Allan; Fernandez Jaen, Alberto; Selicorni, Angelo; Maitz, Silvia; de Brouwer, Arjan P. M.; Vulto-van Silfhout, Anneke; Armstrong, Martin; Symonds, Joseph; Kury, Sebastien; Isidor, Bertrand; Cogne, Benjamin; Nizon, Mathilde; Feger, Claire; Muller, Jean; Torti, Erin; Grange, Dorothy K.; Willems, Marjolaine; Kruer, Michael C.; Ko, Jaewon; Piton, Amelie; Um, Ji Won Share Save The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsBrunklaus, Andreas; Bruenger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nunez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M.; Pysden, Karen; Russ-Hall, Sophie J.; Scheffer, Ingrid E.; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M.; Lal, Dennis; Moller, Rikke S.; Mantegazza, Massimo; Cestele, Sandrine Share Save Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related EpilepsiesBrunklaus, Andreas; Perez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Kattan, Michael W.; Zuberi, Sameer M.; Lal, Dennis Share Save Gene variant effects across sodium channelopathies predict function and guide precision therapyBrunklaus, Andreas; Feng, Tony; Brunger, Tobias; Perez-Palma, Eduardo; Heyne, Henrike; Matthews, Emma; Semsarian, Christopher; Symonds, Joseph D.; Zuberi, Sameer M.; Lal, Dennis; Schorge, Stephanie Share Save Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinantsSymonds, Joseph D.; Elliott, Katherine S.; Shetty, Jay; Armstrong, Martin; Brunklaus, Andreas; Cutcutache, Ioana; Diver, Louise A.; Dorris, Liam; Gardiner, Sarah; Jollands, Alice; Joss, Shelagh; Kirkpatrick, Martin; McLellan, Ailsa; MacLeod, Stewart; O'Regan, Mary; Page, Matthew; Pilley, Elizabeth; Pilz, Daniela T.; Stephen, Elma; Stewart, Kirsty; Ashrafian, Houman; Knight, Julian C.; Zuberi, Sameer M. Share Save NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. Share Save Neuronal antibody prevalence in children with seizures under 3 years A prospective national cohortSymonds, Joseph D.; Moloney, Teresa C.; Lang, Bethan; McLellan, Ailsa; O'Regan, Mary E.; MacLeod, Stewart; Jollands, Alice; Vincent, Angela; Kirkpatrick, Martin; Brunklaus, Andreas; Shetty, Jayakara; Dorris, Liam; Forbes, Kirsten; Abu-Arafeh, Ishaq; Andrew, Jamie; Brink, Philip; Callaghan, Mary; Cruden, Jamie; Findlay, Christine; Grattan, Rosemary; MacDonnell, Jane; McKnight, Jean; Morrison, Calum A.; Nairn, Lesley; Pilley, Elizabeth; Stephen, Elma; Thomsen, Selina; Webb, Alan; Wilson, Margaret; Zuberi, Sameer M. Share Save 
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