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| | Publication Year | Title | Author(s) |
| 81 | May-2022 | CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. | Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andrée; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W; Heron, Delphine; Hildebrand, Michael S ; Lesca, Gaëtan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A; Morgan, Angela T; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David |
| 2 | 10-Jun-1999 | The cerebellar seizures of Hughlings Jackson. | McCrory, Paul; Bladin, Peter F ; Berkovic, Samuel F |
| 3 | 21-Jan-2021 | Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. | Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara ; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy L ; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander ; Scheffer, Ingrid E ; Bahlo, Melanie; Leventer, Richard J; Lister, Ryan; Berkovic, Samuel F ; Hildebrand, Michael S |
| 4 | 30-Sep-2022 | Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressors. | Eratne, Dhamidhu; Keem, Michael; Lewis, Courtney; Kang, Matthew; Walterfang, Mark; Farrand, Sarah; Loi, Samantha; Kelso, Wendy; Cadwallader, Claire; Berkovic, Samuel F ; Li, Qiao-Xin; Masters, Colin L ; Collins, Steven; Santillo, Alexander; Velakoulis, Dennis |
| 5 | 1-Feb-2022 | Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings. | Eratne, Dhamidhu; Loi, Samantha M; Li, Qiao-Xin; Stehmann, Christiane; Malpas, Charles B; Santillo, Alexander; Janelidze, Shorena; Cadwallader, Claire; Walia, Nirbaanjot; Ney, Blair; Lewis, Victoria; Senesi, Matteo; Fowler, Christopher; McGlade, Amelia; Varghese, Shiji; Ravanfar, Parsa; Kelso, Wendy; Farrand, Sarah; Keem, Michael; Kang, Matthew; Goh, Anita M Y; Dhiman, Kunal; Gupta, Veer; Watson, Rosie; Yassi, Nawaf; Kaylor-Hughes, Cath; Kanaan, Richard A A ; Perucca, Piero ; Dobson, Hannah; Vivash, Lucy; Ali, Rashida; O'Brien, Terence J; Hansson, Oskar; Zetterberg, Henrik; Blennow, Kaj; Walterfang, Mark; Masters, Colin L ; Berkovic, Samuel F ; Collins, Steven; Velakoulis, Dennis |
| 6 | Feb-2024 | Cerebrospinal fluid neurofilament light predicts longitudinal diagnostic change in patients with psychiatric and neurodegenerative disorders. | Kang, Matthew Jy; Eratne, Dhamidhu; Dobson, Hannah; Malpas, Charles B; Keem, Michael; Lewis, Courtney; Grewal, Jasleen; Tsoukra, Vivian; Dang, Christa; Mocellin, Ramon; Kalincik, Tomas; Santillo, Alexander F; Zetterberg, Henrik; Blennow, Kaj; Stehmann, Christiane; Varghese, Shiji; Li, Qiao-Xin; Masters, Colin L ; Collins, Steven; Berkovic, Samuel F ; Evans, Andrew; Kelso, Wendy; Farrand, Sarah; Loi, Samantha M; Walterfang, Mark; Velakoulis, Dennis |
| 7 | 1-Apr-2007 | Changes in cortical excitability differentiate generalized and focal epilepsy. | Badawy, Radwa A B; Curatolo, Josie M; Newton, Mark R; Berkovic, Samuel F ; Macdonell, Richard A L |
| 8 | 2018 | Characterization of speech and language phenotype in children with NRXN1 deletions. | Brignell, Amanda; St John, Miya; Boys, Amber; Bruce, Amanda; Dinale, Carla; Pigdon, Lauren; Hildebrand, Michael S ; Amor, David J; Morgan, Angela T |
| 9 | 11-Feb-2015 | CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. | Thomas, Rhys H; Zhang, Lin Mei; Carvill, Gemma L; Archer, John S ; Heavin, Sinéad B; Mandelstam, Simone A; Craiu, Dana; Berkovic, Samuel F ; Gill, Deepak S; Mefford, Heather C; Scheffer, Ingrid E |
| 10 | 17-Mar-2015 | CHD2 variants are a risk factor for photosensitivity in epilepsy. | Galizia, Elizabeth C; Myers, Candace T; Leu, Costin; de Kovel, Carolien G F; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L ; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G; Mullen, Saul A ; Berkovic, Samuel F ; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D; Esguerra, Camila V; Kasteleijn-Nolst Trenité, Dorothee G A; Koeleman, Bobby P C; Mefford, Heather C; Scheffer, Ingrid E ; Sisodiya, Sanjay M |
| 11 | 1-Jan-2003 | Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. | Marini, Carla; Harkin, Louise A; Wallace, Robyn H; Mulley, John C; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 12 | Feb-2018 | Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. | Myers, Kenneth A; White, Susan M; Mohammed, Shehla; Metcalfe, Kay A; Fry, Andrew E; Wraige, Elisabeth; Vasudevan, Pradeep C; Balasubramanian, Meena; Scheffer, Ingrid E |
| 13 | 21-Oct-2013 | Choking, asphyxiation and the insular seizure. | Geevasinga, Nimeshan; Archer, John S ; Ng, Karl |
| 14 | 1-Feb-2002 | Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. | Singh, Rita; Gardner, R J McKinlay; Crossland, Kathryn M; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 15 | 1-Dec-2008 | Classification and clinical features of absence epilepsies: how evidence leads to changing concepts. | Scheffer, Ingrid E ; Berg, Anne T |
| 16 | 29-Jul-2019 | Classification as autonomic versus sensory seizures. | Fisher, Robert S; Cross, Helen; D'Souza, Carol; French, Jacqueline A; Haut, Sheryl; Higurashi, Norimichi; Hirsch, Edouard; Jansen, Floor E; Peltola, Jukka; Moshe, Solomon L; Perucca, Emilio; Lagae, Lieven; Roulet-Perez, Eliane; Schulze-Bonhage, Andreas; Scheffer, Ingrid E ; Somerville, Ernest; Sperling, Michael R; Wiebe, Samuel; Yacubian, Elza Marcia; Zuberi, Sameer |
| 17 | Mar-2021 | Climate change and epilepsy: Insights from clinical and basic science studies. | Gulcebi, Medine I; Bartolini, Emanuele; Lee, Omay; Lisgaras, Christos Panagiotis; Onat, Filiz; Mifsud, Janet; Striano, Pasquale; Vezzani, Annamaria; Hildebrand, Michael S ; Jimenez-Jimenez, Diego; Junck, Larry; Lewis-Smith, David; Scheffer, Ingrid E ; Thijs, Roland D; Zuberi, Sameer M; Blenkinsop, Stephen; Fowler, Hayley J; Foley, Aideen; Sisodiya, Sanjay M |
| 18 | 2-Jan-2018 | Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. | McTague, Amy; Nair, Umesh; Malhotra, Sony; Meyer, Esther; Trump, Natalie; Gazina, Elena V; Papandreou, Apostolos; Ngoh, Adeline; Ackermann, Sally; Ambegaonkar, Gautam; Appleton, Richard; Desurkar, Archana; Eltze, Christin; Kneen, Rachel; Kumar, Ajith V; Lascelles, Karine; Montgomery, Tara; Ramesh, Venkateswaran; Samanta, Rajib; Scott, Richard H; Tan, Jeen; Whitehouse, William; Poduri, Annapurna; Scheffer, Ingrid E ; Chong, W K Kling; Cross, J Helen; Topf, Maya; Petrou, Steven; Kurian, Manju A |
| 19 | 1-Nov-2001 | Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). | Scheffer, Ingrid E ; Wallace, Robyn H; Mulley, John C; Berkovic, Samuel F |
| 20 | 2019 | Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. | Mole, Sara E; Anderson, Glenn; Band, Heather A; Berkovic, Samuel F ; Cooper, Jonathan D; Kleine Holthaus, Sophia-Martha; McKay, Tristan R; Medina, Diego L; Rahim, Ahad A; Schulz, Angela; Smith, Alexander J |
