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| | Publication Year | Title | Author(s) |
| 421 | Dec-2016 | Mortality in Dravet syndrome. | Cooper, Monica S; Mcintosh, Anne M; Crompton, Douglas E; McMahon, Jacinta M; Schneider, Amy L ; Farrell, Kevin; Ganesan, Vijeya; Gill, Deepak; Kivity, Sara; Lerman-Sagie, Tally; McLellan, Ailsa; Pelekanos, James; Ramesh, Venkateswaran; Sadleir, Lynette; Wirrell, Elaine; Scheffer, Ingrid E |
| 422 | 11-Aug-2020 | Mortality in patients with psychogenic nonepileptic seizures. | Nightscales, Russell ; McCartney, Lara; Auvrez, Clarissa; Tao, Gerard; Barnard, Sarah; Malpas, Charles B; Perucca, Piero ; McIntosh, Anne; Chen, Zhibin; Sivathamboo, Shobi; Ignatiadis, Sophia; Jones, Simon; Adams, Sophia; Cook, Mark J; Kwan, Patrick; Velakoulis, Dennis; D'Souza, Wendyl; Berkovic, Samuel F ; O'Brien, Terence J |
| 423 | Jan-2018 | Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. | Myers, Kenneth A; Bennett, Mark F; Chow, Chung W; Carden, Susan M; Mandelstam, Simone A; Bahlo, Melanie; Scheffer, Ingrid E |
| 424 | Dec-2022 | Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F ; Brown, Natasha J; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom ; Gardiner, Fiona; Stutterd, Chloe A ; Duan, Jing; Mullen, Saul A ; McGillivray, George; Bodek, Simon; Valente, Giulia M ; Reagan, Matthew; Yao, Yi; Li, Lin; Chen, Li; Boys, Amber; Adikari, Thiuni N; Cao, Dezhi; Hu, Zhanqi; Beshay, Victoria; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 425 | 7-Nov-2023 | Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies. | Van Der Veen, Sterre; Tse, Gabrielle T ; Ferretti, Alessandro; Garone, Giacomo; Post, Bart; Specchio, Nicola; Fung, Victor Sc; Trivisano, Marina; Scheffer, Ingrid E |
| 426 | Oct-2023 | The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed. | Van Der Veen, Sterre; Tijssen, Marina A J; Berkovic, Samuel F |
| 427 | 27-Jan-2024 | Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. | de Nys, Rebekah; van Eyk, Clare L; Ritchie, Tarin; Møller, Rikke S; Scheffer, Ingrid E ; Marini, Carla; Bhattacharjee, Rudrarup; Kumar, Raman; Gecz, Jozef |
| 428 | 23-Feb-2016 | Multiplex families with epilepsy: Success of clinical and molecular genetic characterization | Afawi, Zaid; Oliver, Karen L; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y; Helbig, Katherine L; Goldberg-Stern, Hadassa; Misk, Adel J; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H; Mangelsdorf, Marie; MacPherson, James N; Carvill, Gemma L; Mefford, Heather C; Jackson, Graeme D ; Scheffer, Ingrid E ; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E; Corbett, Mark A; Mulley, John C; Dibbens, Leanne M; Korczyn, Amos D; Berkovic, Samuel F |
| 429 | 7-May-2015 | Mutation of the Nuclear Lamin Gene LMNB2 in Progressive Myoclonus Epilepsy with Early Ataxia. | Damiano, John Anthony; Afawi, Zaid; Bahlo, Melanie; Mauermann, Monika; Misk, Adel; Arsov, Todor; Oliver, Karen L; Dahl, Hans-Henrik M; Shearer, A Eliot; Smith, Richard J H; Hall, Nathan E; Mahmood, Khalid; Leventer, Richard J; Scheffer, Ingrid E ; Muona, Mikko; Lehesjoki, Anna-Elina; Korczyn, Amos D; Hermann, Harald; Berkovic, Samuel F ; Hildebrand, Michael S |
| 430 | 14-Apr-2014 | Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. | Scheffer, Ingrid E ; Heron, Sarah E; Regan, Brigid M; Mandelstam, Simone A; Crompton, Douglas E; Hodgson, Bree L; Licchetta, Laura; Provini, Federica; Bisulli, Francesca; Vadlamudi, Lata; Gecz, Jozef; Connelly, Alan; Tinuper, Paolo; Ricos, Michael G; Berkovic, Samuel F ; Dibbens, Leanne M |
| 431 | 9-Apr-2015 | Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. | Carvill, Gemma L; McMahon, Jacinta M; Schneider, Amy; Zemel, Matthew; Myers, Candace T; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L; Leventer, Richard J; Møller, Rikke S; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F ; Scheffer, Ingrid E ; Mefford, Heather C |
| 432 | Jan-2016 | Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. | Ricos, Michael G; Hodgson, Bree L; Pippucci, Tommaso; Saidin, Akzam; Ong, Yeh Sze; Heron, Sarah E; Licchetta, Laura; Bisulli, Francesca; Bayly, Marta A; Hughes, James; Baldassari, Sara; Palombo, Flavia; Santucci, Margherita; Meletti, Stefano; Berkovic, Samuel F ; Rubboli, Guido; Thomas, Paul Q; Scheffer, Ingrid E ; Tinuper, Paolo; Geoghegan, Joel; Schreiber, Andreas W; Dibbens, Leanne M |
| 433 | 4-Aug-2016 | Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy | Hildebrand, Michael S ; Griffin, Nicole G; Damiano, John A; Cops, Elisa J; Burgess, Rosemary; Ozturk, Ezgi; Jones, Nigel C; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Sadleir, Lynette G; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Allen, Andrew S; Goldstein, David B; Kerrigan, John F; Berkovic, Samuel F ; Heinzen, Erin L |
| 434 | May-2017 | Myoclonic Absence Seizures in Dravet Syndrome. | Myers, Kenneth A; Scheffer, Ingrid E |
| 435 | May-2018 | Myoclonic absence seizures with complex gestural automatisms. | Myers, Kenneth A; Scheffer, Ingrid E |
| 436 | May-2017 | Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. | Oliver, Karen L; Franceschetti, Silvana; Milligan, Carol J; Muona, Mikko; Mandelstam, Simone A; Canafoglia, Laura; Boguszewska-Chachulska, Anna M; Korczyn, Amos D; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben-Zeev, Bruria; Straussberg, Rachel; Panzica, Ferruccio; Massano, João; Friedman, Daniel; Crespel, Arielle; Engelsen, Bernt A; Andermann, Frederick; Andermann, Eva; Spodar, Krystyna; Lasek-Bal, Anetta; Riguzzi, Patrizia; Pasini, Elena; Tinuper, Paolo; Licchetta, Laura; Gardella, Elena; Lindenau, Matthias; Wulf, Annette; Møller, Rikke S; Benninger, Felix; Afawi, Zaid; Rubboli, Guido; Reid, Christopher A; Maljevic, Snezana; Lerche, Holger; Lehesjoki, Anna-Elina; Petrou, Steven; Berkovic, Samuel F |
| 437 | 2021 | Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies. | Palmer, Elizabeth E; Howell, Katherine; Scheffer, Ingrid E |
| 438 | 19-Jul-2022 | Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. | Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; Krijtova, Hana; Leffner, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; McKeown Ruggiero, Sarah; Mochel, Fanny; Ramond, Francis; Reif, Philipp S; Richard-Mornas, Aurélie; Rosenow, Felix; Schropp, Christian; Thomas, Rhys H; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Scheffer, Ingrid E ; Striano, Pasquale; Møller, Rikke S; Gardella, Elena; Weckhuysen, Sarah |
| 19 | 1-Mar-2008 | Navigating the channels and beyond: unravelling the genetics of the epilepsies. | Helbig, Ingo; Scheffer, Ingrid E ; Mulley, John C; Berkovic, Samuel F |
| 20 | 2005 | Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). | Scheffer, Ingrid E ; Harkin, Louise A; Dibbens, Leanne M; Mulley, John C; Berkovic, Samuel F |
