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| | Publication Year | Title | Author(s) |
| 21 | 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 |
| 2 | 3-Nov-2022 | A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. | Grinton, Bronwyn E; Robertson, Erandee; Fearnley, Liam G; Scheffer, Ingrid E ; Marson, Anthony G; O'Brien, Terence J; Pickrell, W Owen; Rees, Mark I; Sisodiya, Sanjay M; Balding, David J; Bennett, Mark F ; Bahlo, Melanie; Berkovic, Samuel F ; Oliver, Karen L |
| 3 | 10-Oct-2022 | De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. | Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F ; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cuscó, Ivon; Janette diMonda, null; Duran-Romaña, Ramon; Ekhilevitch, Nina; Fernández-Alvarez, Paula; Gordon, Christopher T; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M; Muir, Alison M; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E ; Schnur, Rhonda E; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S; Vengoechea, Jaime; Ville, Dorothée; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G; Mefford, Heather C; Peeters, Hilde |
| 4 | 3-Oct-2022 | Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes. | Ye, Zimeng; Bennett, Mark F ; Neal, Andrew; Laing, Joshua A; Hunn, Martin K; Wittayacharoenpong, Thanomporn; Todaro, Marian; Patel, Sheila K ; Bahlo, Melanie; Kwan, Patrick; O'Brien, Terence J; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
| 5 | Oct-2022 | Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. | Krüger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J; Weber, Yvonne G; Keo-Kosal, Pascale; Berkovic, Samuel F ; Hildebrand, Michael S ; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger |
| 6 | Oct-2022 | Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives. | Eratne, Dhamidhu; Janelidze, Shorena; Malpas, Charles B; Loi, Samantha; Walterfang, Mark; Merritt, Antonia; Diouf, Ibrahima; Blennow, Kaj; Zetterberg, Henrik; Cilia, Brandon; Wannan, Cassandra; Bousman, Chad; Everall, Ian; Zalesky, Andrew; Jayaram, Mahesh; Thomas, Naveen; Berkovic, Samuel F ; Hansson, Oskar; Velakoulis, Dennis; Pantelis, Christos; Santillo, Alexander |
| 7 | Oct-2022 | Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. | Knowles, Juliet K; Helbig, Ingo; Metcalf, Cameron S; Lubbers, Laura S; Isom, Lori L; Demarest, Scott; Goldberg, Ethan M; George, Alfred L; Lerche, Holger; Weckhuysen, Sarah; Whittemore, Vicky; Berkovic, Samuel F ; Lowenstein, Daniel H |
| 8 | Oct-2022 | Increased cortical thickness in nodes of the cognitive control and default mode networks in psychosis of epilepsy. | Allebone, James; Wilson, Sarah J; Bradlow, Richard C J; Maller, Jerome; O'Brien, Terry; Mullen, Saul A ; Cook, Mark; Adams, Sophia J; Vogrin, Simon; Vaughan, David N; Connelly, Alan; Kwan, Patrick; Berkovic, Samuel F ; D'Souza, Wendyl J; Jackson, Graeme D ; Velakoulis, Dennis; Kanaan, Richard A A |
| 9 | 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 |
| 10 | 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 |
| 11 | 21-Jul-2022 | Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. | Green, Timothy E; Motelow, Joshua E; Bennett, Mark F ; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Bahlo, Melanie; Goldstein, David B; Kerrigan, John F; Heinzen, Erin L; Berkovic, Samuel F ; Hildebrand, Michael S |
| 12 | Jul-2022 | Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. | Oliver, Karen L; Ellis, Colin A; Scheffer, Ingrid E ; Ganesan, Shiva; Leu, Costin; Sadleir, Lynette G; Heinzen, Erin L; Mefford, Heather C; Bass, Andrew J; Curtis, Sarah W; Harris, Rebekah V; Whiteman, David C; Helbig, Ingo; Ottman, Ruth; Epstein, Michael P; Bahlo, Melanie; Berkovic, Samuel F |
| 13 | Jun-2022 | A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. | Campbell, Ciarán; McCormack, Mark; Patel, Sonn; Stapleton, Caragh; Bobbili, Dheeraj; Krause, Roland; Depondt, Chantal; Sills, Graeme J; Koeleman, Bobby P; Striano, Pasquale; Zara, Federico; Sander, Josemir W; Lerche, Holger; Kunz, Wolfram S; Stefansson, Kari; Stefansson, Hreinn; Doherty, Colin P; Heinzen, Erin L; Scheffer, Ingrid E ; Goldstein, David B; O'Brien, Terence; Cotter, David; Berkovic, Samuel F ; Sisodiya, Sanjay M; Delanty, Norman; Cavalleri, Gianpiero L |
| 14 | Jun-2022 | Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. | Soh, Ming S; Bagnall, Richard D; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 15 | 30-May-2022 | Functional correlates of clinical phenotype and severity in recurrent SCN2A variants. | Berecki, Géza; Howell, Katherine B; Heighway, Jacqueline; Olivier, Nelson; Rodda, Jill; Overmars, Isabella; Vlaskamp, Danique R M; Ware, Tyson L; Ardern-Holmes, Simone; Lesca, Gaetan; Alber, Michael; Veggiotti, Pierangelo; Scheffer, Ingrid E ; Berkovic, Samuel F ; Wolff, Markus; Petrou, Steven |
| 16 | 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 |
| 17 | 29-Apr-2022 | UNC13B and focal epilepsy. | Green, Timothy E; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 18 | 18-Apr-2022 | Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. | Skotte, Line; Fadista, João; Bybjerg-Grauholm, Jonas; Appadurai, Vivek; Hildebrand, Michael S ; Hansen, Thomas F; Banasik, Karina; Grove, Jakob; Albiñana, Clara; Geller, Frank; Bjurström, Carmen F; Vilhjálmsson, Bjarni J; Coleman, Matthew; Damiano, John A; Burgess, Rosemary; Scheffer, Ingrid E ; Pedersen, Ole Birger Vesterager; Erikstrup, Christian; Westergaard, David; Nielsen, Kaspar René; Sørensen, Erik; Bruun, Mie Topholm; Liu, Xueping; Hjalgrim, Henrik; Pers, Tune H; Mortensen, Preben Bo; Mors, Ole; Nordentoft, Merete; Dreier, Julie W; Børglum, Anders D; Christensen, Jakob; Hougaard, David M; Buil, Alfonso; Hviid, Anders; Melbye, Mads; Ullum, Henrik; Berkovic, Samuel F ; Werge, Thomas; Feenstra, Bjarke |
| 19 | 9-Apr-2022 | Rare SUDEP SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. | Soh, Ming S; Bagnall, Richard D; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 20 | 18-Mar-2022 | Interictal EEG and ECG for SUDEP Risk Assessment: A Retrospective Multicenter Cohort Study. | Chen, Zhe Sage; Hsieh, Aaron; Sun, Guanghao; Bergey, Gregory K; Berkovic, Samuel F ; Perucca, Piero ; D'Souza, Wendyl; Elder, Christopher J; Farooque, Pue; Johnson, Emily L; Barnard, Sarah; Nightscales, Russell ; Kwan, Patrick; Moseley, Brian; O'Brien, Terence J; Sivathamboo, Shobi; Laze, Juliana; Friedman, Daniel; Devinsky, Orrin |
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