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| | Publication Year | Title | Author(s) |
| 281 | Feb-2018 | Gain-of-function HCN2 variants in genetic epilepsy. | Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S ; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven; Reid, Christopher A |
| 282 | 24-Apr-2008 | Gene expression analysis in absence epilepsy using a monozygotic twin design. | Helbig, Ingo; Matigian, Nicholas A; Vadlamudi, Lata; Lawrence, Kate M; Bayly, Marta A; Bain, Sharon M; Diyagama, Dileepa; Scheffer, Ingrid E ; Mulley, John C; Holloway, Andrew J; Dibbens, Leanne M; Berkovic, Samuel F ; Hayward, Nicholas K |
| 283 | 1-Jan-1999 | Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. | Singh, R; Scheffer, Ingrid E ; Crossland, K; Berkovic, Samuel F |
| 284 | Dec-2020 | Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors. | Ellis, Colin A; Ottman, Ruth; Epstein, Michael P; Berkovic, Samuel F |
| 285 | 8-Aug-2023 | Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene. | Ovchinnikov, D A; Jong, S; Cuddy, C; Scheffer, Ingrid E ; Maljevic, S; Petrou, S |
| 286 | 1-Aug-2019 | Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder. | Bozaoglu, Kiymet; Gao, Yujing; Stanley, Edouard; Fanjul-Fernández, Miriam; Brown, Natasha J; Pope, Kate; Green, Cherie C; Vlahos, Katerina; Sourris, Koula; Bahlo, Melanie; Delatycki, Martin; Scheffer, Ingrid E ; Lockhart, Paul J |
| 287 | 1-Aug-2014 | Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. | Bagnall, Richard D; Crompton, Douglas E; Cutmore, Carina; Regan, Brigid M; Berkovic, Samuel F ; Scheffer, Ingrid E ; Semsarian, Christopher |
| 288 | 1-May-2004 | Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. | Marini, Carla; Scheffer, Ingrid E ; Crossland, Kathryn M; Grinton, Bronwyn E; Phillips, Fiona L; McMahon, Jacinta M; Turner, Samantha J; Dean, Joanne T; Kivity, Sara; Mazarib, Aziz; Neufeld, Miriam Y; Korczyn, Amos D; Harkin, Louise A; Dibbens, Leanne M; Wallace, Robyn H; Mulley, John C; Berkovic, Samuel F |
| 289 | 29-Sep-2020 | Genetic Contributions to Acquired Epilepsies. | Perucca, Piero ; Scheffer, Ingrid E |
| 290 | 2021 | Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. | Carvill, Gemma L; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G; Scheffer, Ingrid E ; De Vries, Bert B A; Vissers, Lisenka E L M; Mefford, Heather C |
| 291 | 19-Sep-2017 | Genetic epilepsy with febrile seizures plus: refining the spectrum | Zhang, Yue-Hua; Burgess, Rosemary; Malone, Jodie P; Glubb, Georgie C; Helbig, Katherine L; Vadlamudi, Lata; Kivity, Sara; Afawi, Zaid; Bleasel, Andrew; Grattan-Smith, Padraic; Grinton, Bronwyn E; Bellows, Susannah T; Vears, Danya F; Damiano, John A; Goldberg-Stern, Hadassa; Korczyn, Amos D; Dibbens, Leanne M; Ruzzo, Elizabeth K; Hildebrand, Michael S ; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 292 | 6-May-2022 | Genetic factors and shared environment contribute equally to objective singing ability. | Yeom, Daniel; Tan, Yi Ting; Haslam, Nick; Mosing, Miriam A; Yap, Valerie M Z; Fraser, Trisnasari; Hildebrand, Michael S ; Berkovic, Samuel F ; McPherson, Gary E; Peretz, Isabelle; Wilson, Sarah J |
| 293 | Jun-2018 | Genetic generalized epilepsies. | Mullen, Saul A ; Berkovic, Samuel F |
| 294 | 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 |
| 295 | Mar-2016 | The genetic landscape of the epileptic encephalopathies of infancy and childhood | McTague, Amy; Howell, Katherine B; Cross, J Helen; Kurian, Manju A; Scheffer, Ingrid E |
| 296 | 1-Aug-2018 | Genetic literacy series: genetic epilepsy with febrile seizures plus. | Myers, Kenneth A; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 297 | 1-Jul-2011 | Genetic testing in epilepsy: what should you be doing? | Scheffer, Ingrid E |
| 298 | 13-Mar-2013 | Genetics of epilepsy syndromes in families with photosensitivity. | Taylor, Isabella; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 299 | 31-Aug-2020 | The Genetics of Epilepsy. | Perucca, Piero ; Bahlo, Melanie; Berkovic, Samuel F |
| 300 | 8-Aug-2014 | Genetics of epilepsy: The testimony of twins in the molecular era. | Vadlamudi, Lata; Milne, Roger L; Lawrence, Kate M; Heron, Sarah E; Eckhaus, Jazmin; Keay, Deborah; Connellan, Mary; Torn-Broers, Yvonne; Howell, R Anne; Mulley, John C; Scheffer, Ingrid E ; Dibbens, Leanne M; Hopper, John L; Berkovic, Samuel F |
