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Credit Name
Samuel F Berkovic
Full Name
Berkovic, Samuel F
 
 
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Publications

Results 1-20 of 305 (Search time: 0.007 seconds).

Publication YearTitleAuthor(s)
129-Jul-2022Defective 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
221-Jul-2022Sporadic 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 
3Jul-2022Common 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 
418-Jun-2022Precision 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; George, Alfred L; Lerche, Holger; Weckhuysen, Sarah; Whittemore, Vicky; Berkovic, Samuel F ; Lowenstein, Daniel H
5Jun-2022A 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
6Jun-2022Rare 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
730-May-2022Functional 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
86-May-2022Genetic factors and shared environment contribute equally to objective singing ability.Yeom, Daniel; Tan, Yi Ting; Haslam, Nick; Mosing, Miriam A; Yap, Valerie M Z; Fraser, Trisnasari; Hildebrand, Michael S ; Berkovic, Samuel F ; McPherson, Gary E; Peretz, Isabelle; Wilson, Sarah J
929-Apr-2022UNC13B and focal epilepsy.Green, Timothy E; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S 
1018-Apr-2022Genome-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
119-Apr-2022Rare SUDEP 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
1218-Mar-2022Interictal EEG and ECG for SUDEP Risk Assessment: A Retrospective Multicenter Cohort Study.Chen, Zhe Sage; Hsieh, Aaron; Sun, Guanghao; Bergey, Gregory K; Berkovic, Samuel F ; Perucca, Piero ; D'Souza, Wendyl; Elder, Christopher J; Farooque, Pue; Johnson, Emily L; Barnard, Sarah; Nightscales, Russell ; Kwan, Patrick; Moseley, Brian; O'Brien, Terence J; Sivathamboo, Shobi; Laze, Juliana; Friedman, Daniel; Devinsky, Orrin
13Mar-2022Diagnostic 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 
14Mar-2022Bi-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 
151-Feb-2022Cerebrospinal 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
162022Machine 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
172022Evidence 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 
1814-Dec-2021Association 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
199-Dec-2021Identification 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 
208-Dec-2021ILAE Genetic Literacy Series: familial focal epilepsy syndromes.Gooley, Samuel; Crompton, Douglas E; Berkovic, Samuel F