Samuel Frank Berkovic (Sam Berkovic, Samuel F Berkovic, Samuel Berkovic)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 93

Top Venues

Epilepsia

Annals of neurology

Epilepsia open

Annals of clinical and translational neurology

University of Melbourne (BSC)

This page only lists publications with an associated author ORCID identifier.

Education History

University of Melbourne

Australia

BSC :: Medicine

Publications

Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia (2024)
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Amy J LaCroix, Jayne Antony, Richard Webster, Michael Cardamone, Gopinath M Subramanian, Annie Ting Gee Chiu, Eugenia Roza, Raluca I Teleanu, Stephen Malone, Richard J Leventer, Deepak Gill, Samuel Frank Berkovic, Michael S Hildebrand, Beatrice S Goad, Katherine B Howell, Joseph D Symonds, Andreas Brunklaus, Lynette G Sadleir, Sameer M Zuberi, Heather C Mefford, Ingrid Eileen Scheffer
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS). Annals of neurology (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser, Jeffrey R Buchhalter, Michael P Epstein, Quy Cao, null null, null null, Samuel Frank Berkovic, Ruth Ottman
Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia 65 (7) (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Russell Nightscales, Zhibin Chen MBiostat, Sarah N Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel Frank Berkovic, John-Paul Nicolo, Terence J O'Brien, Piero Perucca, Ingrid Eileen Scheffer, Patrick Kwan
Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicenter retrospective cohort study. Epilepsia open 9 (2) (2024)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Russell Nightscales, Zhibin Chen MBiostat, Sarah N Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel Frank Berkovic, John-Paul Nicolo, Terence J O'Brien, Piero Perucca, Ingrid Eileen Scheffer, Patrick Kwan
Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicenter retrospective cohort study. Epilepsia open 9 (2) (2024)
Sterre van der Veen, Marina A J Tijssen, Samuel Frank Berkovic
The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed. Neurology. Clinical practice 13 (5) (2023)
Samuel Frank Berkovic, Pasquale Striano, Shoji Tsuji
History of FAME/BAFME around the world. Epilepsia (2023)
Jillian M Cameron, John A Damiano, Bronwyn E Grinton, Patrick W Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid Eileen Scheffer, Karen L Oliver, Michael S Hildebrand, Samuel Frank Berkovic
Recognition and Epileptology of Protracted CLN3 Disease. Epilepsia (2023)
null null, Siwei Chen, Benjamin M Neale, Samuel Frank Berkovic
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries. medRxiv : the preprint server for health sciences (2023)
null null, Siwei Chen, Benjamin M Neale, Samuel Frank Berkovic
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries. medRxiv : the preprint server for health sciences (2023)
Matthew J Y Kang, Dhamidhu Eratne, Hannah Dobson, Charles B Malpas, Michael Keem, Courtney Lewis, Jasleen Grewal, Vivian Tsoukra, Christa Dang, Ramon Mocellin, Tomas Kalincik, Alexander F Santillo, Henrik Zetterberg, Kaj Blennow, Christiane Stehmann, Shiji Varghese, Qiao-Xin Li, Colin L Masters, Steven John Collins, Samuel Frank Berkovic, Andrew Howard Evans, Wendy Kelso, Sarah Farrand, Samantha M Loi Franzcp PhD Mbbs, Mark Walterfang, Dennis Velakoulis
Cerebrospinal fluid neurofilament light predicts longitudinal diagnostic change in patients with psychiatric and neurodegenerative disorders. Acta neuropsychiatrica (2023)
Karen L Oliver, Ingrid Eileen Scheffer, Mark F Bennett, Bronwyn E Grinton, Melanie Bahlo, Samuel Frank Berkovic
Genes4Epilepsy: An epilepsy gene resource. Epilepsia (2023)
Remika Mito, Mangor Pedersen, Heath Pardoe, Donna Parker, Robert E Smith, Jillian Cameron, Ingrid E Scheffer, Samuel Frank Berkovic, David N Vaughan, Graeme D Jackson
Exploring individual fixel-based white matter abnormalities in epilepsy. Brain communications 6 (1) (2023)
Remika Mito, Mangor Pedersen, Heath Pardoe, Donna Parker, Robert E Smith, Jillian Cameron, Ingrid E Scheffer, Samuel Frank Berkovic, David N Vaughan, Graeme D Jackson
Exploring individual fixel-based white matter abnormalities in epilepsy. Brain communications 6 (1) (2023)
Russell Nightscales, Zhibin Chen MBiostat, Sarah N Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel Frank Berkovic, John-Paul Nicolo, Terence J O'Brien, Piero Perucca, Ingrid Eileen Scheffer, Patrick Kwan
Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicentre retrospective cohort study. Epilepsia open (2023)
Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Alison E Gardner, Atma M Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M Ryan, Sophie Calvert, Clare L van Eyk, Michael Lardelli, Samuel Frank Berkovic, Richard J Leventer, Linda J Richards, Ingrid E Scheffer, Jozef Gecz, Mark A Corbett
Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes 14 (8) (2023)
Karen L Oliver, Ingrid Eileen Scheffer, Mark F Bennett, Bronwyn E Grinton, Melanie Bahlo, Samuel Frank Berkovic
Genes4Epilepsy: an epilepsy gene resource. Epilepsia (2023)
Russell Nightscales, Sarah N Barnard, Juliana Laze, Zhibin Chen MBiostat, Gerard Tao, Clarissa Auvrez, Shobi Sivathamboo, Mark J Cook, Patrick Kwan, Daniel Friedman, Samuel Frank Berkovic, Wendyl D'Souza, Piero Perucca, Orrin Devinsky, Terence J O'Brien
Risk of sudden unexpected death in epilepsy (SUDEP) with lamotrigine and other sodium channel-modulating antiseizure medications. Epilepsia open (2023)
Russell Nightscales, Sarah N Barnard, Juliana Laze, Zhibin Chen MBiostat, Gerard Tao, Clarissa Auvrez, Shobi Sivathamboo, Mark J Cook, Patrick Kwan, Daniel Friedman, Samuel Frank Berkovic, Wendyl D'Souza, Piero Perucca, Orrin Devinsky, Terence J O'Brien
Risk of sudden unexpected death in epilepsy (SUDEP) with lamotrigine and other sodium channel modulating antiseizure medications. Epilepsia open (2023)
Cinzia Costa, Karen L Oliver, Carmen Calvello, Jillian M Cameron, Valentina Imperatore, Laura Tonelli, Davide Colavito, Silvana Franceschetti, Canafoglia Laura, Samuel Frank Berkovic, Paolo Prontera
IRF2BPL: A new genotype for progressive myoclonus epilepsies. Epilepsia (2023)
Jillian M Cameron, Colin A Ellis, Samuel Frank Berkovic, null null, null null
ILAE Genetics Literacy Series: Progressive Myoclonus Epilepsies. Epileptic disorders : international epilepsy journal with videotape (2023)
null null, Siwei Chen, Benjamin M Neale, Samuel Frank Berkovic
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries. medRxiv : the preprint server for health sciences (2023)
Remika Mito, Mangor Pedersen, Heath Pardoe, Donna Parker, Robert E Smith, Jillian Cameron, Ingrid E Scheffer, Samuel Frank Berkovic, David N Vaughan, Graeme D Jackson
Exploring individual fixel-based white matter abnormalities in epilepsy. Brain communications 6 (1) (2023)
Rebekah V Harris, Karen L Oliver, Piero Perucca, Pasquale Striano, Angelo Labate, Antonella Riva, Bronwyn E Grinton, Joshua Reid, Jessica Hutton, Marian Todaro, Terence J O'Brien, Patrick Kwan, Lynette G Sadleir, Saul A Mullen, Emanuela Dazzo, Douglas E Crompton, Ingrid Eileen Scheffer, Melanie Bahlo, Carlo Nobile, Antonio Gambardella, Samuel Frank Berkovic
Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture. Annals of neurology (2023)
Russell Nightscales, Zhibin Chen MBiostat, Sarah N Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel Frank Berkovic, John-Paul Nicolo, Terence J O'Brien, Piero Perucca, Ingrid Eileen Scheffer, Patrick Kwan
Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicenter retrospective cohort study. Epilepsia open (2023)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Miranda Galey, Joy Goffena, Sophia B Gibson, Talia J Allan, Denis M Nyaga, Nico Lieffering, Heather C Mefford, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Monika Weisz Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette Grant Sadleir, Danny E Miller, Ingrid Eileen Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv : the preprint server for health sciences (2023)
Samuel Frank Berkovic, Pasquale Striano, Shoji Tsuji
History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world. Epilepsia (2023)
Cinzia Costa, Karen L Oliver, Carmen Calvello, Jillian M Cameron, Valentina Imperatore, Laura Tonelli, Davide Colavito, Silvana Franceschetti, Canafoglia Laura, Samuel Frank Berkovic, Paolo Prontera
IRF2BPL: A new genotype for progressive myoclonus epilepsies. Epilepsia (2023)
Remika Mito, Mangor Pedersen, Heath Pardoe, Donna Parker, Robert E Smith, Jillian Cameron, Ingrid E Scheffer, Samuel Frank Berkovic, David N Vaughan, Graeme D Jackson
Exploring individual fixel-based white matter abnormalities in epilepsy. Brain communications 6 (1) (2023)
Line Skotte, João Fadista, Jonas Bybjerg-Grauholm, Vivek Appadurai, Michael S Hildebrand, Thomas Folkmann Hansen, Karina Banasik, Jakob Grove, Clara Albiñana, Frank Geller, Carmen F Bjurström, Bjarni J Vilhjálmsson, Matthew Coleman, John A Damiano, Rosemary Burgess, Ingrid Eileen Scheffer, Ole Birger Vesterager Pedersen, Christian Erikstrup, David Westergaard, Kaspar René Nielsen, Erik Sørensen, Mie Topholm Bruun, Xueping Liu, Henrik Hjalgrim, Tune H Pers, Preben Bo Mortensen, Ole Mors, Merete Nordentoft, Julie Werenberg Dreier, Anders D Børglum, Jakob Christensen, David M Hougaard, Alfonso Buil, Anders Hviid, Mads Melbye, Henrik Ullum, Samuel Frank Berkovic, Thomas Werge, Bjarke Feenstra
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. Brain : a journal of neurology 145 (2) (2022)
Mark F Bennett, Michael S Hildebrand, Sayaka Kayumi, Mark A Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J Henry, John A Damiano, Amber Boys, Jozef Gecz, Melanie Bahlo, Ingrid Eileen Scheffer, Samuel Frank Berkovic
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. Neurology. Genetics 8 (1) (2022)
Piero Perucca, Kate Stanley, Natasha Harris, Anne M McIntosh, Ali Akbar Asadi-Pooya, Mohamad A Mikati, Danielle M Andrade, Patricia Dugan, Chantal Depondt, Hyunmi Choi, Erin L Heinzen, Gianpiero L Cavalleri, Russell J Buono, Orrin Devinsky, Michael R Sperling, Samuel Frank Berkovic, Norman Delanty, David B Goldstein, Terence J O'Brien, null null
Rare genetic variation and outcome of surgery for mesial temporal lobe epilepsy. Annals of neurology (2022)
Benjamin Sinclair, Varduhi Cahill, Jarrel Seah, Andy Kitchen, Lucy E Vivash, Zhibin Chen, Charles B Malpas, Marie F O'Shea, Patricia M Desmond, Rodney J Hicks, Andrew P Morokoff, James A King, Gavin C Fabinyi, Andrew H Kaye, Patrick Kwan, Samuel Frank Berkovic, Meng Law, Terence J O'Brien
Machine learning approaches for imaging-based prognostication of the outcome of surgery for mesial temporal lobe epilepsy. Epilepsia 63 (5) (2022)
Luca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino, Yu Chi Liu, Caitlin A Bennett, Mark F Bennett, John A Damiano, Gábor Zsurka, Caterina Marconi, Tania Giangregorio, Pamela Magini, Marijn Kuijpers, Tanja Maritzen, Giuseppe Danilo Norata, Stéphanie Baulac, Laura Canafoglia, Marco Seri, Paolo Tinuper, Ingrid E Scheffer, Melanie Bahlo, Samuel Frank Berkovic, Michael S Hildebrand, Wolfram S Kunz, Lucio Giordano, Francesca Bisulli, Miriam Martini, Volker Haucke, Emilio Hirsch, Tommaso Pippucci
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy. Brain : a journal of neurology 145 (7) (2022)
Michelle M Lee, Graeme S V McDowell, Darryl C De Vivo, Daniel Friedman, Samuel Frank Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A Sanchez-Lara, Michelle Allen-Sharpley, Jodi Warman-Chardon, Alexander Solyom, Thierry Levade, Edward H Schuchman, Steffany A L Bennett, David A Dyment, Toni S Pearson
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile. Annals of clinical and translational neurology (2022)
Timothy E Green, Mareike Schimmel, Susanna Schubert, Johannes R Lemke, Mark F Bennett, Michael Stephen Hildebrand, Samuel Frank Berkovic
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. European journal of human genetics : EJHG 30 (3) (2022)
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. American journal of medical genetics. Part A 188 (12) (2022)
Geza Berecki, Katherine B Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R M Vlaskamp, Tyson L Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E Scheffer, Samuel Frank Berkovic, Markus Wolff, Steven Petrou
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants. Communications biology 5 (1) (2022)
Timothy E Green, Ingrid E Scheffer, Samuel Frank Berkovic, Michael S Hildebrand
UNC13B and focal epilepsy. Brain : a journal of neurology 145 (3) (2022)
Juliet K Knowles, Ingo Helbig, Cameron S Metcalf, Laura S Lubbers, Lori L Isom, Scott T Demarest, Ethan M Goldberg, Alfred L George, Holger Lerche, Sarah Weckhuysen, Vicky Whittemore, Samuel Frank Berkovic, Daniel H Lowenstein
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia 63 (10) (2022)
Anne M McIntosh, Alex W Wynd, Samuel Frank Berkovic
Extended follow-up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery. Epilepsia (2022)
Zimeng Ye, Mark F Bennett, Andrew Neal, Joshua A Laing, Martin K Hunn, Thanomporn Wittayacharoenpong, Marian Todaro, Sheila K Patel, Melanie Bahlo, Patrick Kwan, Terence J O'Brien, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Piero Perucca, Michael S Hildebrand
Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes. Neurology (2022)
Ciarán Campbell, Mark McCormack, Sonn Patel, Caragh Stapleton, Dheeraj Bobbili, Roland Krause, Chantal Depondt, Graeme J Sills, Bobby P Koeleman, Pasquale Striano, Federico Zara, Josemir W Sander, Holger Lerche, Wolfram S Kunz, Kari Stefansson, Hreinn Stefansson, Colin P Doherty, Erin L Heinzen, Ingrid Eileen Scheffer, David B Goldstein, Terence O'Brien, David Cotter, Samuel Frank Berkovic, null null, Sanjay M Sisodiya, Norman Delanty, Gianpiero L Cavalleri
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Epilepsia 63 (6) (2022)
Piero Perucca, Kate Stanley, Natasha Harris, Anne M McIntosh, Ali Akbar Asadi-Pooya, Mohamad A Mikati, Danielle M Andrade, Patricia Dugan, Chantal Depondt, Hyunmi Choi, Erin L Heinzen, Gianpiero L Cavalleri, Russell J Buono, Orrin Devinsky, Michael R Sperling, Samuel Frank Berkovic, Norman Delanty, David B Goldstein, Terence J O'Brien, null null
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy. Annals of neurology (2022)
Ming Shiuan Soh, Richard D Bagnall, Christopher Semsarian, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Christopher A Reid
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. Epilepsia 63 (6) (2022)
Katherine B Howell, Jeremy L Freeman, Mark T Mackay, Michael C Fahey, John Archer, Samuel Frank Berkovic, Eunice Chan, Gabriel Dabscheck, Stefanie Eggers, Michael Hayman, James Holberton, Rodney W Hunt, Susan E Jacobs, Andrew J Kornberg, Richard J Leventer, Simone Mandelstam, Jacinta M McMahon, Heather C Mefford, Julie Panetta, Jessica Riseley, Victoria Rodriguez-Casero, Monique M Ryan, Amy L Schneider, Lindsay J Smith, Zornitza Stark, Flora Wong, Eppie M Yiu, Ingrid E Scheffer, A Simon Harvey
The severe epilepsy syndromes of infancy: A population-based study. Epilepsia 62 (2) (2021)
Vera Braatz, Helena Martins Custodio, Costin Leu, Luigi Agrò, Baihan Wang, Stella Calafato, Genevieve Rayner, Michael G Doyle, Christian Hengsbach, Francesca Bisulli, Yvonne G Weber, Antonio Gambardella, Norman Delanty, Gianpiero Cavalleri, Jacqueline Foong, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Elvira Bramon, Simona Balestrini, Sanjay M Sisodiya
Postictal Psychosis in Epilepsy: A Clinicogenetic Study. Annals of neurology 90 (3) (2021)
Zimeng Ye, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Michael Stephen Hildebrand
Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing. Annals of neurology 90 (4) (2021)
Nathan T Cohen, Judith Helen Cross, Alexis A Arzimanoglou, Samuel Frank Berkovic, John F Kerrigan, Ilene Penn Miller, Erica Webster, Lisa Soeby, Arthur Cukiert, Dale K Hesdorffer, Barbara L Kroner, Clifford B Saper, Andreas Schulze-Bonhage, William D Gaillard, null null
Hypothalamic Hamartomas: Evolving Understanding and Management. Neurology 97 (18) (2021)
Sarah E Heron, Brigid M Regan, Rebekah V Harris, Alison E Gardner, Matthew J Coleman, Mark F Bennett, Bronwyn E Grinton, Katherine L Helbig, Michael R Sperling, Sheryl Haut, Eric B Geller, Peter Widdess-Walsh, James T Pelekanos, Melanie Bahlo, Slavé Petrovski, Erin L Heinzen, Michael S Hildebrand, Mark A Corbett, Ingrid E Scheffer, Jozef Gecz, Samuel Frank Berkovic
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. Neurology 96 (18) (2021)
Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M Muir, Jessica Giannelli, Rebecca O Littlejohn, Elizabeth R Roeder, Berkley Schmidt, William G Wilson, Elysa J Marco, Kazuhiro Iwama, Satoko Kumada, Tiziana Pisano, Carmen Barba, Annalisa Vetro, Eva H Brilstra, Richard H van Jaarsveld, Naomichi Matsumoto, Hadassa Goldberg-Stern, Patrick W Carney, P Ian Andrews, Christelle M El Achkar, Samuel Frank Berkovic, Lance H Rodan, null null, Kirsty McWalter, Renzo Guerrini, Ingrid E Scheffer, Heather C Mefford, Simone Mandelstam, Linda Laux, John J Millichap, Alicia Guemez-Gamboa, Angus C Nairn, Gemma Louise Carvill
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Annals of neurology 90 (2) (2021)
Shobi Sivathamboo, Daniel Friedman, Juliana Laze, Russell Nightscales, Zhibin Chen MBiostat, Levin Kuhlmann, Sasha Devore, Vaughan Gary Macefield, Patrick Kwan, Wendyl D'Souza, Samuel Frank Berkovic, Piero Perucca, Terence J O'Brien, Orrin Devinsky, null null
Association of Short-term Heart Rate Variability and Sudden Unexpected Death in Epilepsy. Neurology (2021)
Laura C Bott, Mitra Forouhan, Maria Lieto, Ambre J Sala, Ruth Ellerington, Janel O Johnson, Alfina A Speciale, Chiara Criscuolo, Alessandro Filla, David Chitayat, Ebba Alkhunaizi, Patrick Shannon, Andrea H Nemeth, null null, Francesco Angelucci, Wooi Fang Lim, Pasquale Striano, Federico Zara, Ingo Helbig, Mikko Muona, Carolina Courage, Anna-Elina Lehesjoki, Samuel Frank Berkovic, null null, Kenneth H Fischbeck, Francesco Brancati, Richard I Morimoto, Matthew J A Wood, Pasquale Striano
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. Brain communications 3 (4) (2021)
Alexander Bryson, Samuel Frank Berkovic, Steven Petrou, David B Grayden
State transitions through inhibitory interneurons in a cortical network model. PLoS computational biology 17 (10) (2021)
Canafoglia Laura, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Paolo Tinuper, Carlo Di Bonaventura, Roberto Michelucci, Edoardo Ferlazzo, Tiziana Granata, Adriana Magaudda, Laura Licchetta, Alessandro Filla, Angela La Neve, Patrizia Riguzzi, Teresa Anna Cantisani, Martina Fanella, Barbara Castellotti, Cinzia Gellera, Melanie Bahlo, Federico Zara, Carolina Courage, Anna-Elina Lehesjoki, Karen L Oliver, Samuel Frank Berkovic
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. Neurology. Genetics 7 (6) (2021)
Anne M McIntosh, K Meng Tan, Tahir M Hakami, Mark R Newton, Patrick W Carney, Mengjiazhi Yang, Sibel Saya, David J T Marco, Piero Perucca, Patrick Kwan, Terence J O'Brien, Samuel Frank Berkovic
Newly diagnosed seizures assessed at two established first seizure clinics: Clinic characteristics, investigations, and findings over 11 years. Epilepsia open 6 (1) (2021)
Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, null null, Samuel Frank Berkovic, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Michael R Johnson, Bobby P C Koeleman, Wolfram S Kunz, Holger Lerche, Anthony G Marson, Terence J O'Brien, Slave Petrovski, Josemir W Sander, Graeme J Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M Sisodiya, Simon L Girard, Patrick Cossette
Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. Annals of clinical and translational neurology 8 (7) (2021)
Timothy E Green, Duncan MacGregor, Susan M Carden, Rebekah V Harris, Chelsee A Hewitt, Samuel Frank Berkovic, Anthony J Penington, Ingrid Eileen Scheffer, Michael S Hildebrand
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome. Cold Spring Harbor molecular case studies 7 (6) (2021)
Ming Shiuan Soh, Richard D Bagnall, Mark F Bennett, Lauren E Bleakley, Erlina S Mohamed Syazwan, A Marie Phillips, Mathew D F Chiam, Chaseley E McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E Scheffer, Samuel Frank Berkovic, Christopher A Reid
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP. Annals of clinical and translational neurology 8 (7) (2021)
Laure Mazzola, Karen L Oliver, Audrey Labalme, Betül Baykan, Mikko Muona, Tarja H Joensuu, Carolina Courage, Nicolas Chatron, Giuseppe Borsani, Eudeline Alix, Francis Ramond, Renaud Touraine, Melanie Bahlo, Nerses Bebek, Samuel Frank Berkovic, Anna-Elina Lehesjoki, Gaëtan Lesca
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. Annals of neurology 89 (2) (2020)
Julie Werenberg Dreier, Colin A Ellis, Samuel Frank Berkovic, Chris Cotsapas, Ruth Ottman, Jakob Christensen
Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy. Annals of clinical and translational neurology 8 (1) (2020)
Russell Nightscales, Lara McCartney, Clarissa Auvrez, Gerard Tao, Sarah Barnard, Charles B Malpas, Piero Perucca, Anne M McIntosh, Zhibin Chen MBiostat, Shobi Sivathamboo, Sophia Ignatiadis, Simon Jones, Sophia Adams, Mark J Cook, Patrick Kwan, Dennis Velakoulis, Wendyl J D'Souza, Samuel Frank Berkovic, Terence J O'Brien
Mortality in patients with psychogenic nonepileptic seizures. Neurology 95 (6) (2020)
Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew J Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel Frank Berkovic, Melanie Bahlo
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. European journal of human genetics : EJHG 28 (7) (2020)
Géza Berecki, Katherine L Helbig, Tyson L Ware, Bronwyn Grinton, Cara M Skraban, Eric D Marsh, Samuel Frank Berkovic, Steven Petrou
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. International journal of molecular sciences 21 (17) (2020)
Piero Perucca, Alison Anderson, Dana Jazayeri, Alison Hitchcock, Janet Graham, Marian Todaro, Torbjörn Tomson, Dina Battino, Emilio Perucca, Meritxell Martinez Ferri, Anne Rochtus, Lieven Lagae, Maria Paola Canevini, Elena Zambrelli, Ellen Campbell, Bobby P C Koeleman, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Patrick Kwan, Sanjay M Sisodiya, David B Goldstein, Slavé Petrovski, John Craig, Frank J E Vajda, Terence J O'Brien, null null
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load. Annals of neurology 87 (6) (2020)
Lynette Grant Sadleir, Guillem de Valles-Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson, John Nguyen, Samuel Frank Berkovic, Saul Mullen, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, Ingrid E Scheffer
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. Epilepsia 61 (4) (2020)
Alexander Bryson, Robert John Hatch, Bas-Jan Zandt, Christian Rossert, Samuel Frank Berkovic, Christopher A Reid, David B Grayden, Sean L Hill, Steven Petrou
GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons. Proceedings of the National Academy of Sciences of the United States of America 117 (6) (2020)
Colin A Ellis, Ruth Ottman, Michael P Epstein, Samuel Frank Berkovic, null null
Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors. Epilepsia 61 (12) (2020)
Gabrielle T Tse, Aviva S Frydman, Marie F O'Shea, Greg J Fitt, David L Weintrob, Michael A Murphy, Gavin C Fabinyi, Kristian J Bulluss, Mark J Cook, Samuel Frank Berkovic
Anterior temporal encephaloceles: Elusive, important, and rewarding to treat. Epilepsia 61 (12) (2020)
Kenneth A Myers, Mark F Bennett, Michael S Hildebrand, Matthew J Coleman, Geyu Zhou, Georgie Hollingsworth, Anita Cairns, Kate Riney, Samuel Frank Berkovic, Melanie Bahlo, Ingrid E Scheffer
Transcriptome analysis of a ring chromosome 20 patient cohort. Epilepsia 62 (1) (2020)
Varduhi Cahill, Benjamin Sinclair, Charles B Malpas, Anne M McIntosh, Zhibin Chen, Lucy E Vivash, Marie F O'Shea, Sarah J Wilson, Patricia M Desmond, Salvatore U Berlangieri, Rodney J Hicks, Christopher C Rowe, Andrew P Morokoff, James A King, Gavin C Fabinyi, Andrew H Kaye, Patrick Kwan, Samuel Frank Berkovic, Terence J O'Brien
Metabolic patterns and seizure outcomes following anterior temporal lobectomy. Annals of neurology 85 (2) (2019)
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M Sisodiya, Giorgio Casari, Lynette G Sadleir, Riaan van Coller, Marina A J Tijssen, Karl Martin Klein, Arn M J M van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel Frank Berkovic, Tommaso Pippucci, Canafoglia Laura, Melanie Bahlo, Pasquale Striano, Ingrid Eileen Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature communications 10 (1) (2019)
Jillian M Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A H M Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel Frank Berkovic
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. Annals of clinical and translational neurology 6 (7) (2019)
Colin A Ellis, Leonid Churilov, Michael P Epstein, Sharon X Xie, Susannah T Bellows, Ruth Ottman, Samuel Frank Berkovic, null null
Epilepsy in families: Age at onset is a familial trait, independent of syndrome. Annals of neurology 86 (1) (2019)
Herbert Schulz, Ann-Kathrin Ruppert, Federico Zara, Francesca Madia, Michele Iacomino, Maria S Vari, Ganna Balagura, Carlo Minetti, Pasquale Striano, Amedeo Bianchi, Carla Marini, Renzo Guerrini, Yvonne G Weber, Felicitas Becker, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rikke S Møller, Karen L Oliver, Susannah T Bellows, Saul A Mullen, Samuel Frank Berkovic, Ingrid E Scheffer, Hande Caglayan, Ugur Ozbek, Per Hoffmann, Sara Schramm, Despina Tsortouktzidis, Albert J Becker, Thomas Sander
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. Epilepsia 60 (5) (2019)
John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid Eileen Scheffer, Nicholas Wood, Samuel Frank Berkovic
SCN1A Variants in vaccine-related febrile seizures: A prospective study. Annals of neurology 87 (2) (2019)
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel Frank Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Annals of clinical and translational neurology 6 (7) (2019)
Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, Samuel Frank Berkovic
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. Epilepsia open 4 (3) (2019)
Colin A Ellis, Samuel Frank Berkovic, Michael P Epstein, Ruth Ottman, null null
The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence. Annals of neurology 87 (1) (2019)
Christopher Alan Reid, Ben Rollo, Steven Petrou, Samuel Frank Berkovic
Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies? Epilepsia 59 (5) (2018)
Saul A Mullen, Samuel Frank Berkovic, null null
Genetic generalized epilepsies. Epilepsia 59 (6) (2018)
Géza Berecki, Katherine B Howell, Yadeesha H Deerasooriya, Maria Roberta Cilio, Megan K Oliva, David Kaplan, Ingrid E Scheffer, Samuel Frank Berkovic, Steven Petrou
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. Proceedings of the National Academy of Sciences of the United States of America 115 (24) (2018)
Demet Kinay, Karen L Oliver, Erdem Tüzün, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel Frank Berkovic
Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy. Epilepsia 59 (8) (2018)
Richard Douglas Bagnall, Jodie Ingles, Laura Yeates, Samuel Frank Berkovic, Christopher Semsarian
Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death. Genetics in medicine : official journal of the American College of Medical Genetics 19 (10) (2017)
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel Frank Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS genetics 13 (11) (2017)

Samuel Frank Berkovic.css-eqlu8i{font-size:small;padding-left:4px;} (Sam Berkovic, Samuel F Berkovic, Samuel Berkovic)

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Samuel Frank Berkovic (Sam Berkovic, Samuel F Berkovic, Samuel Berkovic)