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| | Publication Year | Title | Author(s) |
| 61 | Feb-2021 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F ; Berkovic, Samuel F ; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S ; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L ; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E |
| 2 | Feb-2021 | The severe epilepsy syndromes of infancy: A population-based study. | Howell, Katherine B; Freeman, Jeremy L; Mackay, Mark T; Fahey, Michael C; Archer, John S ; Berkovic, Samuel F ; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W; Jacobs, Susan E; Kornberg, Andrew J; Leventer, Richard J; Mandelstam, Simone; McMahon, Jacinta M; Mefford, Heather C; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M; Schneider, Amy L ; Smith, Lindsay J; Stark, Zornitza; Wong, Flora; Yiu, Eppie M; Scheffer, Ingrid E ; Harvey, A Simon |
| 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 | 15-Jan-2021 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, Dhamidhu; Schneider, Amy L ; Lynch, Ella; Martyn, Melissa; Velakoulis, Dennis; Fahey, Michael; Kwan, Patrick; Leventer, Richard; Rafehi, Haloom; Chong, Belinda; Stark, Zornitza; Lunke, Sebastian; Phelan, Dean G; O'Keefe, Melanie; Siemering, Kirby; West, Kirsty; Sexton, Adrienne; Jarmolowicz, Anna; Taylor, Jessica A; Schultz, Joshua; Purvis, Rebecca; Uebergang, Eloise; Chalinor, Heather; Creighton, Belinda; Gelfand, Nikki; Saks, Tamar; Prawer, Yael; Smagarinsky, Yana; Pan, Tianxin; Goranitis, Ilias; Ademi, Zanfina; Gaff, Clara; Huq, Aamira; Walsh, Maie; James, Paul A; Krzesinski, Emma I; Wallis, Mathew J ; Stutterd, Chloe A ; Bahlo, Melanie; Delatycki, Martin B ; Berkovic, Samuel F |
| 5 | Jan-2021 | Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy. | Dreier, Julie W; Ellis, Colin A; Berkovic, Samuel F ; Cotsapas, Chris; Ottman, Ruth; Christensen, Jakob |
| 6 | Jan-2021 | Transcriptome analysis of a ring chromosome 20 patient cohort. | Myers, Kenneth A; Bennett, Mark F ; Hildebrand, Michael S ; Coleman, Matthew J; Zhou, Geyu; Hollingsworth, Georgie; Cairns, Anita; Riney, Kate; Berkovic, Samuel F ; Bahlo, Melanie; Scheffer, Ingrid E |
| 7 | 2021 | Contribution of rare genetic variants to drug response in absence epilepsy. | Myers, Kenneth A; Bennett, Mark F ; Grinton, Bronwyn E; Dabscheck, Gabriel; Chan, Eunice K; Bello-Espinosa, Luis E; Sadleir, Lynette G; D'Alfonso, Sabrina; Schneider, Amy L ; Damiano, John A; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F ; Buchhalter, Jeffrey; Scheffer, Ingrid E |
| 8 | 2021 | Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. | Bott, Laura C; Forouhan, Mitra; Lieto, Maria; Sala, Ambre J; Ellerington, Ruth; Johnson, Janel O; Speciale, Alfina A; Criscuolo, Chiara; Filla, Alessandro; Chitayat, David; Alkhunaizi, Ebba; Shannon, Patrick; Nemeth, Andrea H; Angelucci, Francesco; Lim, Wooi Fang; Striano, Pasquale; Zara, Federico; Helbig, Ingo; Muona, Mikko; Courage, Carolina; Lehesjoki, Anna-Elina; Berkovic, Samuel F ; Fischbeck, Kenneth H; Brancati, Francesco; Morimoto, Richard I; Wood, Matthew J A; Rinaldi, Carlo |
| 9 | 2021 | Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing. | Ye, Zimeng; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 10 | 2021 | Cutting Edge Approaches to Detecting Brain Mosaicism Associated with Common Focal Epilepsies: Implications for Diagnosis and Potential therapies. | Ye, Zimeng; Bennett, Mark F ; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
| 11 | Dec-2020 | Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors. | Ellis, Colin A; Ottman, Ruth; Epstein, Michael P; Berkovic, Samuel F |
| 12 | 23-Oct-2020 | Anterior temporal encephaloceles: Elusive, important, and rewarding to treat. | Tse, Gabrielle T ; Frydman, Aviva S ; O'Shea, Marie F ; Fitt, Gregory J ; Weintrob, David L ; Murphy, Michael A; Fabinyi, Gavin C ; Bulluss, Kristian J ; Cook, Mark J; Berkovic, Samuel F |
| 13 | Oct-2020 | Enlarged hippocampal fissure in psychosis of epilepsy. | Allebone, James; Kanaan, Richard A A ; Maller, Jerome J; O'Brien, Terrence; Mullen, Saul A ; Cook, Mark; Adams, Sophie; Vogrin, Simon; Vaughan, David; Connelly, Alan; Kwan, Patrick; Berkovic, Samuel F ; D'Souza, Wendyl; Jackson, Graeme D ; Velakoulis, Dennis; Wilson, Sarah J |
| 14 | 8-Sep-2020 | Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? | Bleakley, Lauren E; Soh, Ming S; Bagnall, Richard D; Sadleir, Lynette G; Gooley, Samuel; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 15 | 31-Aug-2020 | Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. | Berecki, Géza; Helbig, Katherine L; Ware, Tyson L; Grinton, Bronwyn; Skraban, Cara M; Marsh, Eric D; Berkovic, Samuel F ; Petrou, Steven |
| 16 | 31-Aug-2020 | The Genetics of Epilepsy. | Perucca, Piero ; Bahlo, Melanie; Berkovic, Samuel F |
| 17 | 11-Aug-2020 | Mortality in patients with psychogenic nonepileptic seizures. | Nightscales, Russell ; McCartney, Lara; Auvrez, Clarissa; Tao, Gerard; Barnard, Sarah; Malpas, Charles B; Perucca, Piero ; McIntosh, Anne; Chen, Zhibin; Sivathamboo, Shobi; Ignatiadis, Sophia; Jones, Simon; Adams, Sophia; Cook, Mark J; Kwan, Patrick; Velakoulis, Dennis; D'Souza, Wendyl; Berkovic, Samuel F ; O'Brien, Terence J |
| 18 | Jul-2020 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | Bennett, Mark F ; Oliver, Karen L; Regan, Brigid M; Bellows, Susannah T; Schneider, Amy L ; Rafehi, Haloom; Sikta, Neblina; Crompton, Douglas E; Coleman, Matthew; Hildebrand, Michael S ; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bahlo, Melanie |
| 19 | Apr-2020 | Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. | Sadleir, Lynette G; de Valles-Ibáñez, Guillem; King, Chontelle; Coleman, Matthew J; Mossman, Stuart; Paterson, Sarah; Nguyen, John; Berkovic, Samuel F ; Mullen, Saul; Bahlo, Melanie; Hildebrand, Michael S ; Mefford, Heather C; Scheffer, Ingrid E |
| 20 | Apr-2020 | EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. | Shaw, Marie; Winczewska-Wiktor, Anna; Badura-Stronka, Magdalena; Koirala, Sunita; Gardner, Alison; Kuszel, Łukasz; Kowal, Piotr; Steinborn, Barbara; Starczewska, Monika; Garry, Sarah; Scheffer, Ingrid E ; Berkovic, Samuel F ; Gecz, Jozef |
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