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| | Publication Year | Title | Author(s) |
| 61 | 28-Oct-2022 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. | Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S ; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Lassuthova, Petra; Jahodova, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E ; Mefford, Heather C; Carvill, Gemma L |
| 62 | 18-Oct-2022 | A companion to the preclinical common data elements for proteomics, lipidomics and metabolomics data in rodent epilepsy models. A Report of the TASK3-WG4 Omics Working Group of the ILAE/AES Joint Translational Task Force. | Bindila, Laura; Eid, Tore; Mills, James D; Hildebrand, Michael S ; Brennan, Gary P; Masino, Susan A; Whittemore, Vicky; Perucca, Piero ; Reid, Christopher A; Patel, Manisha; Wang, Kevin K; van Vliet, Erwin A |
| 63 | 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 |
| 64 | 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 |
| 65 | 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 |
| 66 | 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 |
| 67 | 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 |
| 68 | 19-Sep-2022 | Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review. | Shakhatreh, Lubna; Janmohamed, Mubeen; Baker, Ana Antonic; Willard, Anna; Laing, Joshua; Rychkova, Maria; Chen, Zhibin; Kwan, Patrick; O'Brien, Terence J; Perucca, Piero |
| 69 | 11-Aug-2022 | REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats. | Dolzhenko, Egor; Weisburd, Ben; Ibañez, Kristina; Rajan-Babu, Indhu-Shree; Anyansi, Christine; Bennett, Mark F ; Billingsley, Kimberley; Carroll, Ashley; Clamons, Samuel; Danzi, Matt C; Deshpande, Viraj; Ding, Jinhui; Fazal, Sarah; Halman, Andreas; Jadhav, Bharati; Qiu, Yunjiang; Richmond, Phillip A; Saunders, Christopher T; Scheffler, Konrad; van Vugt, Joke J F A; Zwamborn, Ramona R A J; Chong, Samuel S; Friedman, Jan M; Tucci, Arianna; Rehm, Heidi L; Eberle, Michael A |
| 70 | 11-Aug-2022 | A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3-WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force. | Katsarou, Anna-Maria; Kubova, Hana; Auvin, Stéphane; Mantegazza, Massimo; Barker-Haliski, Melissa; Galanopoulou, Aristea S; Reid, Christopher A; Semple, Bridgette D |
| 71 | 11-Aug-2022 | A companion to the preclinical common data elements for genomics, transcriptomics and epigenomics data in rodent epilepsy models. A Report of the TASK3-WG4 Omics Working Group of the ILAE/AES Joint Translational Task Force. | van Vliet, Erwin A; Hildebrand, Michael S ; Mills, James D; Brennan, Gary P; Eid, Tore; Masino, Susan A; Whittemore, Vicky; Bindila, Laura; Wang, Kevin K; Patel, Manisha; Perucca, Piero ; Reid, Christopher A |
| 72 | 11-Aug-2022 | A companion to the preclinical common data elements for rodent genetic epilepsy models. A Report of the TASK3-WG1B: Pediatric and Genetic models Working Group of the ILAE/AES Joint Translational Task Force. | Mantegazza, Massimo; Auvin, Stėphane; Barker-Haliski, Melissa; Katsarou, Anna-Maria; Kubova, Hana; Galanopoulou, Aristea S; Semple, Bridgette; Reid, Christopher A |
| 73 | 30-Jul-2022 | Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment. | Fearnley, L G; Bennett, M F; Bahlo, M |
| 74 | 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 |
| 75 | 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 |
| 76 | 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 |
| 77 | 13-Jun-2022 | The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. | Brunklaus, Andreas; Brünger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nuñez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M; Pysden, Karen; Russ-Hall, Sophie J; Scheffer, Ingrid E ; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M; Lal, Dennis; Møller, Rikke S; Mantegazza, Massimo; Cestèle, Sandrine |
| 78 | 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 |
| 79 | 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 |
| 80 | 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 |
