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| | Publication Year | Title | Author(s) |
| 1 | 2024 | Exploring individual fixel-based white matter abnormalities in epilepsy. | Mito, Remika; Pedersen, Mangor; Pardoe, Heath; Parker, Donna; Smith, Robert E; Cameron, Jillian M ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Vaughan, David N; Jackson, Graeme D |
| 2 | 22-Dec-2023 | Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicentre retrospective cohort study. | Nightscales, Russell ; Chen, Zhibin; Barnard, Sarah; Auvrez, Clarissa; Tao, Gerard; Sivathamboo, Shobi; Bennett, Caitlin; Rychkova, Maria; D'Souza, Wendyl; Berkovic, Samuel F ; Nicolo, John-Paul; O'Brien, Terence J; Perucca, Piero ; Scheffer, Ingrid E ; Kwan, Patrick |
| 3 | Nov-2023 | Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture. | Harris, Rebekah V; Oliver, Karen L; Perucca, Piero ; Striano, Pasquale; Labate, Angelo; Riva, Antonella; Grinton, Bronwyn E; Reid, Joshua; Hutton, Jessica; Todaro, Marian; O'Brien, Terence J; Kwan, Patrick; Sadleir, Lynette G; Mullen, Saul A ; Dazzo, Emanuela; Crompton, Douglas E; Scheffer, Ingrid E ; Bahlo, Melanie; Nobile, Carlo; Gambardella, Antonio; Berkovic, Samuel F |
| 4 | 22-Oct-2023 | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 5 | 31-Jul-2023 | Aicardi Syndrome Is a Genetically Heterogeneous Disorder. | Ha, Thuong T; Burgess, Rosemary; Newman, Morgan; Moey, Ching; Mandelstam, Simone A; Gardner, Alison E; Ivancevic, Atma M; Pham, Duyen; Kumar, Raman; Smith, Nicholas; Patel, Chirag; Malone, Stephen; Ryan, Monique M; Calvert, Sophie; van Eyk, Clare L; Lardelli, Michael; Berkovic, Samuel F ; Leventer, Richard J; Richards, Linda J; Scheffer, Ingrid E ; Gecz, Jozef; Corbett, Mark A |
| 6 | Jul-2023 | Recognition and Epileptology of Protracted CLN3 Disease. | Cameron, Jillian M ; Damiano, John A; Grinton, Bronwyn; Carney, Patrick W ; McKelvie, Penny; Silbert, Peter; Lawn, Nicholas; Scheffer, Ingrid E ; Oliver, Karen L; Hildebrand, Michael S ; Berkovic, Samuel F |
| 7 | 1-Jun-2023 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | Khoshkhoo, Sattar; Wang, Yilan; Chahine, Yasmine; Erson-Omay, E Zeynep; Robert, Stephanie M; Kiziltug, Emre; Damisah, Eyiyemisi C; Nelson-Williams, Carol; Zhu, Guangya; Kong, Wenna; Huang, August Yue; Stronge, Edward; Phillips, H Westley; Chhouk, Brian H; Bizzotto, Sara; Chen, Ming Hui; Adikari, Thiuni N; Ye, Zimeng; Witkowski, Tom ; Lai, Dulcie; Lee, Nadine; Lokan, Julie ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Haider, Shozeb; Hildebrand, Michael S ; Yang, Edward; Gunel, Murat; Lifton, Richard P; Richardson, R Mark; Blümcke, Ingmar; Alexandrescu, Sanda; Huttner, Anita; Heinzen, Erin L; Zhu, Jidong; Poduri, Annapurna; DeLanerolle, Nihal; Spencer, Dennis D; Lee, Eunjung Alice; Walsh, Christopher A; Kahle, Kristopher T |
| 8 | 5-Dec-2022 | Somatic Mosaic Pathogenic Variant 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 |
| 9 | 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 |
| 10 | 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 |
| 11 | 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 |
| 12 | 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 |
| 13 | 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 |
| 14 | 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 |
| 15 | 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 |
| 16 | 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 |
| 17 | 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 |
| 18 | 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 |
| 19 | 29-Apr-2022 | UNC13B and focal epilepsy. | Green, Timothy E; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 20 | 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 |
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