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| | Publication Year | Title | Author(s) |
| 181 | 2019 | SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. | Vlaskamp, Danique R M; Shaw, Benjamin J; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T; Bennett, Mark F; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M; Brooks, Alice S; Mancini, Grazia M S; van de Laar, Ingrid M B H; van Hagen, Johanna M; Ware, Tyson L; Webster, Richard I; Malone, Stephen; Berkovic, Samuel F ; Kalnins, Renate M; Sicca, Federico; Korenke, G Christoph; van Ravenswaaij-Arts, Conny M A; Hildebrand, Michael S ; Mefford, Heather C; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E |
| 182 | 2019 | Speech and language in bilateral perisylvian polymicrogyria: a systematic review. | Braden, Ruth O; Leventer, Richard J; Jansen, Anna; Scheffer, Ingrid E ; Morgan, Angela T |
| 183 | 2019 | A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. | Eising, Else; Carrion-Castillo, Amaia; Vino, Arianna; Strand, Edythe A; Jakielski, Kathy J; Scerri, Thomas S; Hildebrand, Michael S ; Webster, Richard; Ma, Alan; Mazoyer, Bernard; Francks, Clyde; Bahlo, Melanie; Scheffer, Ingrid E ; Morgan, Angela T; Shriberg, Lawrence D; Fisher, Simon E |
| 184 | 2019 | SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. | Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy ; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J; Scaglia, Fernando; Scheffer, Ingrid E ; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Undiagnosed Disease Network, null; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H |
| 185 | 2019 | Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. | Burgess, Rosemary; Wang, Shuyu; McTague, Amy; Boysen, Katja E; Yang, Xiaoling; Zeng, Qi; Myers, Kenneth A; Rochtus, Anne; Trivisano, Marina; Gill, Deepak; Sadleir, Lynette G; Specchio, Nicola; Guerrini, Renzo; Marini, Carla; Zhang, Yue-Hua; Mefford, Heather C; Kurian, Manju A; Poduri, Annapurna H; Scheffer, Ingrid E |
| 186 | 2019 | A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. | Kolc, Kristy L; Sadleir, Lynette G; Scheffer, Ingrid E ; Ivancevic, Atma; Roberts, Rachel; Pham, Duyen H; Gecz, Jozef |
| 187 | 2019 | Efficacy of cannabinoids in paediatric epilepsy. | Ali, Shayma; Scheffer, Ingrid E ; Sadleir, Lynette G |
| 188 | 2019 | 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction. | Fisher, Robert S; Cross, Helen; D'Souza, Carol; French, Jacqueline A; Haut, Sheryl; Higurashi, Norimichi; Hirsch, Edouard; Jansen, Floor E; Peltola, Jukka; Moshé, Solomon L; Perucca, Emilio; Lagae, Lieven; Roulet Perez, Eliane; Schulze-Bonhage, Andreas; Scheffer, Ingrid E ; Somerville, Ernest; Sperling, Michael R; Wiebe, Samuel; Yacubian, Elza Márcia; Zuberi, Sameer |
| 189 | 2019 | Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. | Cowley, Mark J; Liu, Yu-Chi; Oliver, Karen L; Carvill, Gemma; Myers, Candace T; Gayevskiy, Velimir; Delatycki, Martin B ; Vlaskamp, Danique R M; Zhu, Ying; Mefford, Heather; Buckley, Michael F; Bahlo, Melanie; Scheffer, Ingrid E ; Dinger, Marcel E; Roscioli, Tony |
| 190 | 6-Dec-2018 | Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. | Carvill, Gemma L; Engel, Krysta L; Ramamurthy, Aishwarya; Cochran, J Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L ; Hollingsworth, Georgie; Holder, Dylan H; Regan, Brigid M; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E Martina; Nguyen, John; Barsh, Gregory S; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel F ; De Jonghe, Peter; Scheffer, Ingrid E ; Myers, Richard M; Cooper, Gregory M; Mefford, Heather C |
| 191 | 4-Dec-2018 | A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. | O'Neill, Adam C; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J; Kirk, Edwin P; Fry, Andrew; Pilz, Daniela T; Morgan, Tim; Jenkins, Zandra A; Drukker, Micha; Berkovic, Samuel F ; Scheffer, Ingrid E ; Guerrini, Renzo; Markie, David M; Götz, Magdalena; Cappello, Silvia; Robertson, Stephen P |
| 192 | Dec-2018 | Development of a rapid functional assay that predicts GLUT1 disease severity. | Zaman, Sasha M; Mullen, Saul A ; Petrovski, Slavé; Maljevic, Snezana; Gazina, Elena V; Phillips, A Marie; Jones, Gabriel Davis; Hildebrand, Michael S ; Damiano, John; Auvin, Stéphane; Lerche, Holger; Weber, Yvonne G; Berkovic, Samuel F ; Scheffer, Ingrid E ; Reid, Christopher A; Petrou, Steven |
| 193 | 1-Nov-2018 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B S; Scheffer, Ingrid E ; Helbig, Ingo; Zamponi, Gerald W; Lerche, Holger; Mefford, Heather C; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C; Nolan, Melinda A; Snell, Russell G; Lehnert, Klaus; Sadleir, Lynette G; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J; Lyons, Michael J; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M; Smith, Lacey A; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J; Rankin, Julia; Zeman, Adam; Raymond, F Lucy |
| 194 | Nov-2018 | Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype. | Yap, Valerie M Z; McLachlan, Neil M; Scheffer, Ingrid E ; Wilson, Sarah J |
| 195 | Nov-2018 | Therapeutic use of medicinal cannabis in difficult to manage epilepsy. | Lawson, John A; Scheffer, Ingrid E |
| 196 | 15-Oct-2018 | Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. | Myers, Kenneth A; Davey, Margot J; Ching, Michael ; Ellis, Colin; Grinton, Bronwyn E; Roten, Annie ; Lightfoot, Paul A ; Scheffer, Ingrid E |
| 197 | 31-Aug-2018 | The phenotype of SCN8A developmental and epileptic encephalopathy. | Gardella, Elena; Marini, Carla; Trivisano, Marina; Fitzgerald, Mark P; Alber, Michael; Howell, Katherine B; Darra, Francesca; Siliquini, Sabrina; Bölsterli, Bigna K; Masnada, Silva; Pichiecchio, Anna; Johannesen, Katrine M; Jepsen, Birgit; Fontana, Elena; Anibaldi, Gaia; Russo, Silvia; Cogliati, Francesca; Montomoli, Martino; Specchio, Nicola; Rubboli, Guido; Veggiotti, Pierangelo; Beniczky, Sandor; Wolff, Markus; Helbig, Ingo; Vigevano, Federico; Scheffer, Ingrid E ; Guerrini, Renzo; Møller, Rikke S |
| 198 | 10-Aug-2018 | Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. | Myers, Kenneth A; White, Susan M; Mohammed, Shehla; Metcalfe, Kay A; Fry, Andrew E; Wraige, Elisabeth; Vasudevan, Pradeep C; Balasubramanian, Meena; Scheffer, Ingrid E |
| 199 | 2-Aug-2018 | De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. | Gregor, Anne; Sadleir, Lynette G; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogné, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M A; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C; Miyake, Noriko; Myers, Candace T; Moutton, Sébastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B; Sarkar, Ajoy; Scheffer, Ingrid E ; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D; Zackai, Elaine H; Reis, André; Sticht, Heinrich; Zweier, Christiane |
| 200 | 1-Aug-2018 | Genetic literacy series: genetic epilepsy with febrile seizures plus. | Myers, Kenneth A; Scheffer, Ingrid E ; Berkovic, Samuel F |
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0000-0002-2311-2174