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Credit Name
Samuel F Berkovic
Full Name
Berkovic, Samuel F
 
 
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Results 1-20 of 270 (Search time: 0.014 seconds).

Publication YearTitleAuthor(s)
11-Apr-2021Cation 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
21-Apr-2021Progressive 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
3Feb-2021Progressive 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
421-Jan-2021The 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
521-Jan-2021Cerebrospinal 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 
615-Jan-2021The 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 
74-Jan-2021Contribution 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 
8Dec-2020Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors.Ellis, Colin A; Ottman, Ruth; Epstein, Michael P; Berkovic, Samuel F 
929-Nov-2020Epilepsy 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
1018-Nov-2020Transcriptome 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 
114-Nov-2020NEXMIF 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 
1223-Oct-2020Anterior 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 
13Oct-2020Enlarged 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
14Oct-2020Enlarged 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
158-Sep-2020Are 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
1631-Aug-2020Novel 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
1711-Aug-2020Mortality 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
18Jun-2020Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.Perucca, Piero; Anderson, Alison; Jazayeri, Dana; Hitchcock, Alison; Graham, Janet; Todaro, Marian; Tomson, Torbjörn; Battino, Dina; Perucca, Emilio; Ferri, Meritxell Martinez; Rochtus, Anne; Lagae, Lieven; Canevini, Maria Paola; Zambrelli, Elena; Campbell, Ellen; Koeleman, Bobby P C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Kwan, Patrick; Sisodiya, Sanjay M; Goldstein, David B; Petrovski, Slavé; Craig, John; Vajda, Frank J E; O'Brien, Terence J
19Apr-2020EXOME 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
20Apr-2020Inherited 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