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| | Publication Year | Title | Author(s) |
| 561 | 7-Jan-2013 | Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI. | Carney, Patrick W ; Harvey, A Simon; Berkovic, Samuel F ; Jackson, Graeme D ; Scheffer, Ingrid E |
| 562 | 2019 | SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. | Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy ; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J; Scaglia, Fernando; Scheffer, Ingrid E ; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Undiagnosed Disease Network, null; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H |
| 563 | 26-Sep-2006 | Sleep deprivation increases cortical excitability in epilepsy: syndrome-specific effects. | Badawy, Radwa A B; Curatolo, J M; Newton, Mark R; Berkovic, Samuel F ; Macdonell, Richard A L |
| 564 | Feb-2018 | Sleep problems in Dravet syndrome: a modifiable comorbidity. | Licheni, Shane H; Mcmahon, Jacinta M; Schneider, Amy L ; Davey, Margot J; Scheffer, Ingrid E |
| 565 | 1-Oct-2010 | Small temporal pole encephaloceles: a treatable cause of "lesion negative" temporal lobe epilepsy. | Abou-Hamden, Amal; Lau, Mandy; Fabinyi, Gavin C ; Berkovic, Samuel F ; Jackson, Graeme D ; Mitchell, L Anne; Kalnins, Renate M; Fitt, Gregory J ; Archer, John S |
| 566 | Jun-2018 | Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. | Hildebrand, Michael S ; Harvey, A Simon; Malone, Stephen; Damiano, John A; Do, Hongdo; Ye, Zimeng; McQuillan, Lara ; Maixner, Wirginia; Kalnins, Renate M; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C; Gillies, Greta; Pope, Kate; Lockhart, Paul J; Dobrovic, Alexander ; Leventer, Richard J; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 567 | 29-Sep-2021 | Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome. | Brown, Natasha J; Ye, Zimeng; Stutterd, Chloe A ; Jayasinghe, Sureshni I; Schneider, Amy L ; Mullen, Saul A ; Mandelstam, Simone A; Hildebrand, Michael S |
| 568 | 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 |
| 569 | 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 |
| 570 | 19-Jan-2024 | Somatic mosaicism in focal epilepsies. | Gooley, Samuel; Perucca, Piero ; Tubb, Caitlin; Hildebrand, Michael S ; Berkovic, Samuel F |
| 571 | Sep-2019 | Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. | Ye, Zimeng; McQuillan, Lara ; Poduri, Annapurna; Green, Timothy E; Matsumoto, Naomichi; Mefford, Heather C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 572 | 21-Aug-2014 | Somatic mutations in cerebral cortical malformations. | Jamuar, Saumya S; Lam, Anh-Thu N; Kircher, Martin; D'Gama, Alissa M; Wang, Jian; Barry, Brenda J; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E ; Berkovic, Samuel F ; Leventer, Richard J; Shen, Yiping; Wu, Bai Lin; Barkovich, A James; Sahin, Mustafa; Chang, Bernard S; Bamshad, Michael; Nickerson, Deborah A; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W; Walsh, Christopher A |
| 573 | 20-Feb-1995 | Spatiotemporal alterations of central alpha 1-adrenergic receptor binding sites following amygdaloid kindling seizures in the rat: autoradiographic studies using [3H]prazosin. | Gundlach, Andrew L; Burazin, T C; Jenkins, T A; Berkovic, Samuel F |
| 574 | 1-Jul-1995 | SPECT in the localisation of extratemporal and temporal seizure foci. | Newton, Mark R; Berkovic, Samuel F ; Austin, M C; Rowe, Christopher C ; McKay, W J; Bladin, Peter F |
| 575 | 2000 | SPECT: neurobiology of periictal blood flow alterations. | Berkovic, Samuel F |
| 576 | 25-Jan-2019 | Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. | Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Pérez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C; High, Frances A; Sweetser, David A; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E ; Yang, Edward; Waugh, Jeff L; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna |
| 577 | 2019 | Speech and language in bilateral perisylvian polymicrogyria: a systematic review. | Braden, Ruth O; Leventer, Richard J; Jansen, Anna; Scheffer, Ingrid E ; Morgan, Angela T |
| 578 | 5-Apr-2021 | Speech, Language and Oromotor Skills in Patients with Polymicrogyria. | Braden MSpPath, Ruth O; Boyce, Jessica O; Stutterd, Chloe A ; Pope, Kate; Goel, Himanshu; Leventer, Richard J; Scheffer, Ingrid E ; Morgan, Angela T |
| 579 | 11-Feb-2003 | Spike-triggered fMRI in reading epilepsy: involvement of left frontal cortex working memory area. | Archer, John S ; Briellmann, Regula S; Syngeniotis, Ari; Abbott, David F ; Jackson, Graeme D |
| 580 | 2019 | Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. | Shoubridge, Cheryl; Jackson, Matilda; Grinton, Bronwyn; Berkovic, Samuel F ; Scheffer, Ingrid E ; Huskins, Shannon; Thomas, Alison; Ware, Tyson |
