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| | Publication Year | Title | Author(s) |
| 381 | 5-Jan-2023 | An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. | Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F ; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J ; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B ; Bahlo, Melanie; Lockhart, Paul J |
| 382 | Jan-2018 | Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies. | Oyrer, Julia; Maljevic, Snezana; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven; Reid, Christopher A |
| 383 | Aug-2023 | IRF2BPL: A new genotype for progressive myoclonus epilepsies. | Costa, Cinzia; Oliver, Karen L; Calvello, Carmen; Cameron, Jillian M ; Imperatore, Valentina; Tonelli, Laura; Colavito, Davide; Franceschetti, Silvana; Canafoglia, Laura; Berkovic, Samuel F ; Prontera, Paolo |
| 384 | 23-Mar-2017 | Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy? | McGlade, Amelia; Myers, Kenneth A; Berkovic, Samuel F ; Scheffer, Ingrid E ; Petrovski, Slavé; Hildebrand, Michael S |
| 385 | 1-Jul-2004 | Is benign rolandic epilepsy genetically determined? | Vadlamudi, Lata; Harvey, A Simon; Connellan, Mary M; Milne, Roger L; Hopper, John L; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 386 | Dec-2016 | Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? | Rigbye, Kristin A; van Hasselt, Peter M; Burgess, Rosemary; Damiano, John A; Mullen, Saul A ; Petrovski, Slavé; Puranam, Ram S; van Gassen, Koen L I; Gecz, Jozef; Scheffer, Ingrid E ; McNamara, James O; Berkovic, Samuel F ; Hildebrand, Michael S |
| 387 | 23-May-2007 | Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes? | Taylor, Isabella; Hodgson, Bree; Scheffer, Ingrid E ; Mulley, John C; Berkovic, Samuel F ; Dibbens, Leanne M |
| 388 | 16-Feb-2015 | "It's good to know": Experiences of gene identification and result disclosure in familial epilepsies. | Vears, Danya F; Dunn, Karen L; Wake, Samantha A; Scheffer, Ingrid E |
| 389 | 16-Jun-2004 | Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? | Taylor, Isabella; Marini, Carla; Johnson, Michael R; Turner, Samantha J; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 390 | 19-Jan-2018 | KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. | Myers, Kenneth A; McGlade, Amelia; Neubauer, Bernd A; Lal, Dennis; Berkovic, Samuel F ; Scheffer, Ingrid E ; Hildebrand, Michael S |
| 391 | Jun-2020 | Keeping people with epilepsy safe during the Covid-19 pandemic. | French, Jacqueline A; Brodie, Martin J; Caraballo, Roberto; Devinsky, Orrin; Ding, Ding; Jehi, Lara; Jette, Nathalie; Kanner, Andres; Modi, Avani C; Newton, Charles R; Patel, Archana A; Pennell, Page B; Perucca, Emilio; Sander, Josemir W; Scheffer, Ingrid E ; Singh, Gagandeep; Williams, Emma; Wilmshurst, Jo; Cross, J Helen |
| 392 | 1-Jan-2019 | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. | Berkovic, Samuel F ; Oliver, Karen L; Canafoglia, Laura; Krieger, Penina; Damiano, John A; Hildebrand, Michael S ; Morbin, Michela; Vears, Danya F; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M; Franceschetti, Silvana; Carpenter, Stirling |
| 393 | 5-May-2011 | Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. | Arsov, Todor; Smith, Katherine R; Damiano, John Anthony; Franceschetti, Silvana; Canafoglia, Laura; Bromhead, Catherine J; Andermann, Eva; Vears, Danya F; Cossette, Patrick; Rajagopalan, Sulekha; McDougall, Alan; Sofia, Vito; Farrell, Michael; Aguglia, Umberto; Zini, Andrea; Meletti, Stefano; Morbin, Michela; Mullen, Saul A ; Andermann, Frederick; Mole, Sara E; Bahlo, Melanie; Berkovic, Samuel F |
| 394 | 22-Sep-2014 | Lamotrigine can be beneficial in patients with Dravet syndrome. | Dalic, Linda; Mullen, Saul A ; Roulet Perez, Eliane; Scheffer, Ingrid E |
| 395 | 1-Oct-2020 | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E |
| 16 | 5-Jun-2014 | Lennox-Gastaut syndrome and phenotype: secondary network epilepsies. | Archer, John S ; Warren, Aaron E L; Stagnitti, Monique R; Masterton, Richard A J; Abbott, David F ; Jackson, Graeme D |
| 17 | 3-Dec-2021 | Letter to the Editor. | Cooney, Hannah C; Fleming, Catriona; Scheffer, Ingrid E |
| 18 | 21-Dec-2023 | Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report. | Nyaga, Denis M; Hildebrand, Michael S ; de Valles-Ibáñez, Guillem; Keenan, Ngaire F; Ye, Zimeng; LaFlamme, Christy W; Mefford, Heather C; Bennett, Mark F ; Bahlo, Melanie; Sadleir, Lynette G |
| 19 | Jan-2020 | Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy. | Sadleir, Lynette G; Kolc, Kristy L; King, Chontelle; Mefford, Heather C; Dale, Russell C; Gecz, Jozef; Scheffer, Ingrid E |
| 20 | Feb-2022 | Lightning progress in child neurology in the past 20 years. | Scheffer, Ingrid E |
