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| | Publication Year | Title | Author(s) |
| 141 | 6-Mar-2000 | Deaths due to brain injury among footballers in Victoria, 1968-1999. | McCrory, Paul; Berkovic, Samuel F ; Cordner, S M |
| 142 | Jan-2020 | Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy". | Scheffer, Ingrid E ; Liao, Jianxiang |
| 143 | Oct-2019 | Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes. | Mohandas, Namitha; Loke, Yuk Jing; Mackenzie, Lisa; Bennett, Carmen; Berkovic, Samuel F ; Craig, Jeffrey M; Vadlamudi, Lata |
| 144 | Oct-2023 | Deep learning for automated detection of generalized paroxysmal fast activity in Lennox-Gastaut syndrome. | Nurse, Ewan S; Dalic, Linda J ; Clarke, Shannon; Cook, Mark; Archer, John S |
| 145 | 29-Jul-2022 | Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy. | Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F ; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E ; Bahlo, Melanie; Berkovic, Samuel F ; Hildebrand, Michael S ; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso |
| 146 | 2021 | Defining Dravet syndrome: An essential pre-requisite for precision medicine trials. | Li, Wenhui; Schneider, Amy L ; Scheffer, Ingrid E |
| 7 | 26-Jul-2020 | Defining the phenotype of FHF1 developmental and epileptic encephalopathy. | Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L; Minassian, Berge A; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L; Cooper, Gregory M; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M; Demos, Michelle; Scheffer, Ingrid E ; Specchio, Nicola |
| 8 | 10-May-2016 | Definition and diagnostic criteria of sleep-related hypermotor epilepsy. | Tinuper, Paolo; Bisulli, Francesca; Cross, J H; Hesdorffer, Dale; Kahane, Philippe; Nobili, Lino; Provini, Federica; Scheffer, Ingrid E ; Tassi, Laura; Vignatelli, Luca; Bassetti, Claudio; Cirignotta, Fabio; Derry, Christopher; Gambardella, Antonio; Guerrini, Renzo; Halasz, Peter; Licchetta, Laura; Mahowald, Mark; Manni, Raffaele; Marini, Carla; Mostacci, Barbara; Naldi, Ilaria; Parrino, Liborio; Picard, Fabienne; Pugliatti, Maura; Ryvlin, Philippe; Vigevano, Federico; Zucconi, Marco; Berkovic, Samuel F ; Ottman, Ruth |
| 9 | Jun-2017 | DEPDC5 as a potential therapeutic target for epilepsy. | Myers, Kenneth A; Scheffer, Ingrid E |
| 10 | 14-Dec-2023 | Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future. | Rafehi, Haloom; Bennett, Mark F ; Bahlo, Melanie |
| 11 | 15-Mar-2022 | Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. | Brunklaus, Andreas; Pérez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Møller, 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 |
| 12 | 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 |
| 13 | Nov-2020 | Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. | Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy ; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G; Breuillard, Delphine; Levy, Raphael; Rio, Marlène; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Hélène; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L; Mefford, Heather C; Myers, Candace T; Howell, Katherine B; Rodríguez-Sacristán Cascajo, Andrés; Meyer, Pierre; Genevieve, David; Guët, Agnès; Doummar, Diane; Durigneux, Julien; van Dooren, Marieke F; de Wit, Marie Claire Y; Gerard, Marion; Marey, Isabelle; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E ; Kabashi, Edor; Nabbout, Rima |
| 14 | 16-Jun-2012 | Diagnosis and long-term course of Dravet syndrome. | Scheffer, Ingrid E |
| 15 | 9-Aug-2016 | Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). | Berkovic, Samuel F ; Staropoli, John F; Carpenter, Stirling; Oliver, Karen L; Kmoch, Stanislav; Anderson, Glenn W; Damiano, John A; Hildebrand, Michael S ; Sims, Katherine B; Cotman, Susan L; Bahlo, Melanie; Smith, Katherine R; Cadieux-Dion, Maxime; Cossette, Patrick; Jedličková, Ivana; Přistoupilová, Anna; Mole, Sara E |
| 16 | Mar-2022 | Diagnostic delay in focal epilepsy: Association with brain pathology and age. | Yang, Mengjiazhi; Tan, K Meng; Carney, Patrick W ; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F ; Perucca, Piero ; McIntosh, Anne M |
| 17 | 8-Feb-2023 | Differential diagnosis of familial adult myoclonic epilepsy. | Baykan, Betul; Franceschetti, Silvana; Canafoglia, Laura; Cavalleri, Gianpiero L; Michelucci, Roberto; Scheffer, Ingrid E |
| 18 | 2016 | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID | van Bon, B W M; Coe, B P; Bernier, R; Green, C; Gerdts, J; Witherspoon, K; Kleefstra, T; Willemsen, M H; Kumar, R; Bosco, P; Fichera, M; Li, D; Amaral, D; Cristofoli, F; Peeters, H; Haan, E; Romano, C; Mefford, Heather C; Scheffer, Ingrid E ; Gecz, Jozef; de Vries, Bert B A; Eichler, E E |
| 19 | 15-Oct-2019 | Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. | Guo, Hui; Bettella, Elisa; Marcogliese, Paul C; Zhao, Rongjuan; Andrews, Jonathan C; Nowakowski, Tomasz J; Gillentine, Madelyn A; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H; van Bon, Bregje W; Rinne, Tuula; Stevens, Servi J C; Kleefstra, Tjitske; Brunner, Han G; Yntema, Helger G; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U; Erwin, Deanna J; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather C; Muir, Alison M; Scheffer, Ingrid E ; Regan, Brigid M; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M; Waisfisz, Quinten; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ruivenkamp, Claudia A L; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A; Bernier, Raphael A; Wangler, Michael F; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P A; Bellen, Hugo J; Murgia, Alessandra; Eichler, Evan E |
| 20 | 13-Dec-2023 | Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing. | Coppola, Antonietta; Krithika, S; Iacomino, Michele; Bobbili, Dheeraj; Balestrini, Simona; Bagnasco, Irene; Bilo, Leonilda; Buti, Daniela; Casellato, Susanna; Cuccurullo, Claudia; Ferlazzo, Edoardo; Leu, Costin; Giordano, Lucio; Gobbi, Giuseppe; Hernandez-Hernandez, Laura; Lench, Nick; Martins, Helena; Meletti, Stefano; Messana, Tullio; Nigro, Vincenzo; Pinelli, Michele; Pippucci, Tommaso; Bellampalli, Ravishankara; Salis, Barbara; Sofia, Vito; Striano, Pasquale; Striano, Salvatore; Tassi, Laura; Vignoli, Aglaia; Vaudano, Anna Elisabetta; Viri, Maurizio; Scheffer, Ingrid E ; May, Patrick; Zara, Federico; Sisodiya, Sanjay M |
