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| | Publication Year | Title | Author(s) |
| 41 | Mar-2022 | Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. | Green, Timothy E; Schimmel, Mareike; Schubert, Susanna; Lemke, Johannes R; Bennett, Mark F ; Hildebrand, Michael S ; Berkovic, Samuel F |
| 42 | Mar-2022 | Diagnostic delay in focal epilepsy: Association with brain pathology and age. | Yang, Mengjiazhi; Tan, K Meng; Carney, Patrick W ; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F ; Perucca, Piero ; McIntosh, Anne M |
| 43 | 1-Feb-2022 | Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings. | Eratne, Dhamidhu; Loi, Samantha M; Li, Qiao-Xin; Stehmann, Christiane; Malpas, Charles B; Santillo, Alexander; Janelidze, Shorena; Cadwallader, Claire; Walia, Nirbaanjot; Ney, Blair; Lewis, Victoria; Senesi, Matteo; Fowler, Christopher; McGlade, Amelia; Varghese, Shiji; Ravanfar, Parsa; Kelso, Wendy; Farrand, Sarah; Keem, Michael; Kang, Matthew; Goh, Anita M Y; Dhiman, Kunal; Gupta, Veer; Watson, Rosie; Yassi, Nawaf; Kaylor-Hughes, Cath; Kanaan, Richard A A ; Perucca, Piero ; Dobson, Hannah; Vivash, Lucy; Ali, Rashida; O'Brien, Terence J; Hansson, Oskar; Zetterberg, Henrik; Blennow, Kaj; Walterfang, Mark; Masters, Colin L ; Berkovic, Samuel F ; Collins, Steven; Velakoulis, Dennis |
| 44 | 2022 | Machine Learning Approaches for Imaging-Based Prognostication of the Outcome of Surgery for Mesial Temporal Lobe Epilepsy. | Sinclair, Benjamin; Cahill, Varduhi; Seah, Jarrel; Kitchen, Andy; Vivash, Lucy E; Chen, Zhibin; Malpas, Charles B; O'Shea, Marie F ; Desmond, Patricia M; Hicks, Rodney J; Morokoff, Andrew P; King, James A; Fabinyi, Gavin C ; Kaye, Andrew H; Kwan, Patrick; Berkovic, Samuel F ; Law, Meng; O'Brien, Terence J |
| 45 | 2022 | Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. | Bennett, Mark F ; Hildebrand, Michael S ; Kayumi, Sayaka; Corbett, Mark A; Gupta, Sachin; Ye, Zimeng; Krivanek, Michael; Burgess, Rosemary; Henry, Olivia J; Damiano, John A; Boys, Amber; Gécz, Jozef; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 46 | 14-Dec-2021 | Association of Short-term Heart Rate Variability and Sudden Unexpected Death in Epilepsy. | Sivathamboo, Shobi; Friedman, Daniel; Laze, Juliana; Nightscales, Russell ; Chen, Zhibin; Kuhlmann, Levin; Devore, Sasha; Macefield, Vaughan; Kwan, Patrick; D'Souza, Wendyl; Berkovic, Samuel F ; Perucca, Piero ; O'Brien, Terence J; Devinsky, Orrin |
| 47 | 9-Dec-2021 | Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome. | Green, Timothy E; MacGregor, Duncan; Carden, Susan M; Harris, Rebekah V; Hewitt, Chelsee A; Berkovic, Samuel F ; Penington, Anthony J; Scheffer, Ingrid E ; Hildebrand, Michael S |
| 48 | 8-Dec-2021 | ILAE Genetic Literacy Series: familial focal epilepsy syndromes. | Gooley, Samuel; Crompton, Douglas E; Berkovic, Samuel F |
| 49 | 12-Nov-2021 | Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. | Canafoglia, Laura; Franceschetti, Silvana; Gambardella, Antonio; Striano, Pasquale; Giallonardo, Anna Teresa; Tinuper, Paolo; Di Bonaventura, Carlo; Michelucci, Roberto; Ferlazzo, Edoardo; Granata, Tiziana; Magaudda, Adriana; Licchetta, Laura; Filla, Alessandro; La Neve, Angela; Riguzzi, Patrizia; Cantisani, Teresa Anna; Fanella, Martina; Castellotti, Barbara; Gellera, Cinzia; Bahlo, Melanie; Zara, Federico; Courage, Carolina; Lehesjoki, Anna-Elina; Oliver, Karen L; Berkovic, Samuel F |
| 50 | 15-Oct-2021 | State transitions through inhibitory interneurons in a cortical network model. | Bryson, Alexander ; Berkovic, Samuel F ; Petrou, Steven; Grayden, David B |
| 51 | Oct-2021 | Association Between Psychiatric Comorbidities and Mortality in Epilepsy. | Tao, Gerard; Auvrez, Clarissa; Nightscales, Russell ; Barnard, Sarah; McCartney, Lara; Malpas, Charles B; Perucca, Piero ; Chen, Zhibin; Adams, Sophia; McIntosh, Anne M ; Ignatiadis, Sophia; O'Brien, Patrick; Cook, Mark J; Kwan, Patrick; Berkovic, Samuel F ; D'Souza, Wendyl; Velakoulis, Dennis; O'Brien, Terence J |
| 12 | Sep-2021 | Post-ictal psychosis in epilepsy: A clinico-genetic study. | Braatz, Vera; Martins Custodio, Helena; Leu, Costin; Agro, Luigi; Wang, Baihan; Calafato, Stella; Rayner, Genevieve ; Doyle, Michael G; Hengsbach, Christian; Bisulli, Francesca; Weber, Yvonne G; Gambardella, Antonio; Delanty, Norman; Cavalleri, Gianpiero; Foong, Jacqueline; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bramon, Elvira; Balestrini, Simona; Sisodiya, Sanjay M |
| 13 | 17-Aug-2021 | Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy. | Bleakley, Lauren E; McKenzie, Chaseley E; Soh, Ming S; Forster, Ian C; Pinares-Garcia, Paulo; Sedo, Alicia; Kathirvel, Anirudh; Churilov, Leonid ; Jancovski, Nikola; Maljevic, Snezana; Berkovic, Samuel F ; Scheffer, Ingrid E ; Petrou, Steven; Santoro, Bina; Reid, Christopher A |
| 14 | Aug-2021 | Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. | Pham, Duyen H; Pitman, Melissa R; Kumar, Raman; Jolly, Lachlan A; Schulz, Renee; Gardner, Alison E; de Nys, Rebekah; Heron, Sarah E; Corbett, Mark A; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L; Halliday, Benjamin J; Robertson, Stephen P; Regan, Brigid M; Kirsch, Heidi E; Berkovic, Samuel F ; Scheffer, Ingrid E ; Pitson, Stuart M; Petrovski, Slave; Gecz, Jozef |
| 15 | Jul-2021 | Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. | Wolking, Stefan; Moreau, Claudia; McCormack, Mark; Krause, Roland; Krenn, Martin; Berkovic, Samuel F ; Cavalleri, Gianpiero L; Delanty, Norman; Depondt, Chantal; Johnson, Michael R; Koeleman, Bobby P C; Kunz, Wolfram S; Lerche, Holger; Marson, Anthony G; O'Brien, Terence J; Petrovski, Slave; Sander, Josemir W; Sills, Graeme J; Striano, Pasquale; Zara, Federico; Zimprich, Fritz; Sisodiya, Sanjay M; Girard, Simon L; Cossette, Patrick |
| 16 | 18-May-2021 | Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP. | Soh, Ming S; Bagnall, Richard D; Bennett, Mark F ; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Marie Phillips, A; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael S ; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 17 | 4-May-2021 | Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. | Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F ; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S ; Corbett, Mark A; Scheffer, Ingrid E ; Gécz, Jozef; Berkovic, Samuel F |
| 18 | 21-Apr-2021 | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. | Mole, Sara E; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F ; de Los Reyes, Emily C; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M; Mason, Heather L; Mink, Jonathan W; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E; Scarpa, Maurizio; Scheffer, Ingrid E ; Simonati, Alessandro; Specchio, Nicola; Von Löbbecke, Ina; Wang, Raymond Y; Williams, Ruth E |
| 19 | 1-Apr-2021 | Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. | Courage, Carolina; Oliver, Karen L; Park, Eon Joo; Cameron, Jillian M ; Grabińska, Kariona A; Muona, Mikko; Canafoglia, Laura; Gambardella, Antonio; Said, Edith; Afawi, Zaid; Baykan, Betul; Brandt, Christian; di Bonaventura, Carlo; Chew, Hui Bein; Criscuolo, Chiara; Dibbens, Leanne M; Castellotti, Barbara; Riguzzi, Patrizia; Labate, Angelo; Filla, Alessandro; Giallonardo, Anna T; Berecki, Geza; Jackson, Christopher B; Joensuu, Tarja; Damiano, John A; Kivity, Sara; Korczyn, Amos; Palotie, Aarno; Striano, Pasquale; Uccellini, Davide; Giuliano, Loretta; Andermann, Eva; Scheffer, Ingrid E ; Michelucci, Roberto; Bahlo, Melanie; Franceschetti, Silvana; Sessa, William C; Berkovic, Samuel F ; Lehesjoki, Anna-Elina |
| 20 | Feb-2021 | Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS. | Mazzola, Laure; Oliver, Karen L; Labalme, Audrey; Baykan, Betül; Muona, Mikko; Joensuu, Tarja H; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F ; Lehesjoki, Anna-Elina; Lesca, Gaetan |
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