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Samuel F Berkovic

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

Results 101-120 of 328 (Search time: 0.009 seconds).

Publication YearTitleAuthor(s)
1012019Splice 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
1022019SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.Vlaskamp, Danique R M; Shaw, Benjamin J; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T; Bennett, Mark F; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M; Brooks, Alice S; Mancini, Grazia M S; van de Laar, Ingrid M B H; van Hagen, Johanna M; Ware, Tyson L; Webster, Richard I; Malone, Stephen; Berkovic, Samuel F ; Kalnins, Renate M; Sicca, Federico; Korenke, G Christoph; van Ravenswaaij-Arts, Conny M A; Hildebrand, Michael S ; Mefford, Heather C; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E 
1032019Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.Mole, Sara E; Anderson, Glenn; Band, Heather A; Berkovic, Samuel F ; Cooper, Jonathan D; Kleine Holthaus, Sophia-Martha; McKay, Tristan R; Medina, Diego L; Rahim, Ahad A; Schulz, Angela; Smith, Alexander J
1042019Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group.Samarasekera, Shanika R; Wynd, Alex W ; McIntosh, Anne M ; Berkovic, Samuel F 
1056-Dec-2018Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.Carvill, Gemma L; Engel, Krysta L; Ramamurthy, Aishwarya; Cochran, J Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L ; Hollingsworth, Georgie; Holder, Dylan H; Regan, Brigid M; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E Martina; Nguyen, John; Barsh, Gregory S; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel F ; De Jonghe, Peter; Scheffer, Ingrid E ; Myers, Richard M; Cooper, Gregory M; Mefford, Heather C
1064-Dec-2018A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.O'Neill, Adam C; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J; Kirk, Edwin P; Fry, Andrew; Pilz, Daniela T; Morgan, Tim; Jenkins, Zandra A; Drukker, Micha; Berkovic, Samuel F ; Scheffer, Ingrid E ; Guerrini, Renzo; Markie, David M; Götz, Magdalena; Cappello, Silvia; Robertson, Stephen P
107Dec-2018Development of a rapid functional assay that predicts GLUT1 disease severity.Zaman, Sasha M; Mullen, Saul A ; Petrovski, Slavé; Maljevic, Snezana; Gazina, Elena V; Phillips, A Marie; Jones, Gabriel Davis; Hildebrand, Michael S ; Damiano, John; Auvin, Stéphane; Lerche, Holger; Weber, Yvonne G; Berkovic, Samuel F ; Scheffer, Ingrid E ; Reid, Christopher A; Petrou, Steven
1081-Aug-2018Genetic literacy series: genetic epilepsy with febrile seizures plus.Myers, Kenneth A; Scheffer, Ingrid E ; Berkovic, Samuel F 
109Aug-2018Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.Kinay, Demet; Oliver, Karen L; Tüzün, Erdem; Damiano, John A; Ulusoy, Canan; Andermann, Eva; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F 
11022-Jun-2018Analysis of shared heritability in common disorders of the brain.Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K; Walters, Raymond K; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A; Metspalu, Andres; Chen, Wei-Min; Waddington, John; Walters, James; Weiser, Mark; Andlauer, Till F M; Cheng, Wei; Sonnen, Joshua A; Cormand, Bru; Schreiber, Stefan; Poon, Wayne W; Berr, Claudine; Cloninger, Robert; Curtis, David; Gejman, Pablo V; Henskens, Frans; Mattingsdal, Morten; Hannequin, Didier; Forstner, Andreas J; Kubisch, Christian; Oh, Sang-Yun; Macaya, Alfons; De Rubeis, Silvia; Scott, Rodney; Webb, Bradley; Parr, Jeremy; Ramos-Quiroga, Josep Antoni; Breen, Gerome; Churchhouse, Claire; Stern, Robert A; Bulik, Cynthia M; Streit, Fabian; Konkashbaev, Anuar; Daly, Mark; Turecki, Gustavo; Dichgans, Martin; Mitchell, Braxton; Faraone, Stephen V; Ferrari, Michel D; Regan, Regina; Guerreiro, Rita; Sánchez-Mora, Cristina; Holmans, Peter; Lanzagorta, Nuria; Kendler, Kenneth S; Gibbs, Raphael; Letenneur, Luc; Koeleman, Bobby; Mathews, Carol A; Price, Alkes; Van Deerlin, Vivianna M; Scharf, Jeremiah; Rothwell, Peter; Hakonarson, Hakon; Valencia-Duarte, Ana; Sklar, Pamela; Williams, Julie; Goate, Alison M; Huyser, Chaim; Baune, Bernhard T; Belin, Andrea C; Wood, Nicholas W; Cotsapas, Chris; Palotie, Aarno; Smoller, Jordan W; Leboyer, Marion; Sullivan, Patrick; Rosand, Jonathan; Reichenberg, Abraham; Corvin, Aiden; Illmann, Cornelia; Sharma, Pankaj; Air, Tracy; Van Eldik, Linda J; Striano, Pasquale; Neale, Benjamin M; Bramon, Elvira; Schott, Jonathan M; van den Maagdenberg, Arn M J M; Anney, Richard; Elia, Josephine; Grigoroiu-Serbanescu, Maria; Jenike, Michael; Sandin, Sven; Edenberg, Howard J; Battaglia, Agatino; Murray, Robin; Buccola, Nancy; Harold, Denise; Sudlow, Cathie; Ribasés, Marta; Russo, Giancarlo; Rubinsztein, David C; Bayer, Anthony; Kuperman, Samuel; Tsolaki, Magda; Lee, Phil H; Vorstman, Jacob; Attia, John; Wedenoja, Juho; Proitsi, Petra; Fox, Nick C; Hampel, Harald; Owen, Michael J; Mead, Simon; Ripke, Stephan; Leventhal, Bennett; Vicente, Astrid; Passmore, Peter; Demirci, F Yesim; Morgan, Kevin; Nöthen, Markus M; Sinnamon, Grant; Wassink, Thomas; Rossor, Martin; Lupton, Michelle K; Zwart, John-Anker; Hoffmann, Per; Leverenz, James B; Kornhuber, Johannes; Greenberg, Erica; Lawlor, Brian; Casas, Miguel; McQuillin, Andrew; Markus, Hugh; Wray, Naomi R; Al-Chalabi, Ammar; Wijsman, Ellen; Bis, Joshua C; Ruiz, Agustin; Schosser, Alexandra; Buring, Julie E; Boada, Mercè; Seshadri, Sudha; Beiser, Alexa; Boomsma, Dorret; Rice, Kenneth; Hervas, Amaia; Huang, Hailiang; van der Lee, Sven J; De Jager, Philip L; Vepsäläinen, Salli; Cahn, Wiepke; Lochner, Christine; Kourkoulis, Christina; Geschwind, Daniel H; Riemenschneider, Matthias; Riedel-Heller, Steffi; Rotter, Jerome I; Ransmayr, Gerhard; Hyman, Bradley T; Head, Elizabeth; Cruchaga, Carlos; Cairns, Murray; Arranz, Maria Jesús; Lyon, Gholson J; Eriksson, Nicholas; Julià, Antonio; Alegret, Montserrat; Winsvold, Bendik; Pera, Joana; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Chong, Siow A; MacIntyre, Donald J; Furlotte, Nicholas; Ophoff, Roel; Kurth, Tobias; Olesen, Jes; Haavik, Jan; Cook, Edwin; Chasman, Daniel I; Nyholt, Dale R; Avbersek, Andreja; Cohen, David; Baum, Larry; Ran, Caroline; Porteous, David; Heinzen, Erin L; Berkovic, Samuel F ; Bradfield, Jonathan; Turley, Patrick; Buono, Russell; Catarino, Claudia B; Ligthart, Lannie; Crespo-Facorro, Benedicto; Zayats, Tetyana; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Macciardi, Fabio; Homuth, Georg; Dlugos, Dennis; Ferraro, Thomas N; Raffeld, Miriam; French, Jacqueline; Pozo-Rosich, Patricia; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Santangelo, Susan; Grenier-Boley, Benjamin; Johansson, Stefan; Madruga-Garrido, Marcos; Kälviäinen, Reetta; Rivera, Margarita; Kunz, Wolfram S; Lerche, Holger; Levitt, Pat; Leu, Costin; Lindhout, Dick; Lo, Warren; Silliman, Scott; Lowenstein, Daniel; Delorme, Richard; Ryten, Mina; McCormack, Mark; Møller, Rikke S; Heutink, Peter; Quinn, Joseph F; Williams, Nigel; Molloy, Anne; Chouraki, Vincent; Ng, Ping-Wing; Oliver, Karen L; Privitera, Michael; Radtke, Rodney; Salomaa, Veikko; Ruppert, Ann-Kathrin; Rogé, Bernadette; Crowley, James; Amouyel, Philippe; Betancur, Catalina; Sander, Thomas; Schachter, Steven; Dempfle, Astrid; Schankin, Christoph; Scheffer, Ingrid E ; Schoch, Susanne; Malaty, Irene A; Kamatani, Yoichiro; Kaye, Jeffrey A; Sisodiya, Sanjay M; Boraska Perica, Vesna; Magalhaes, Tiago; Grove, Jakob; Thornton, Laura M; Huckins, Laura M; William Rayner, N; Lewis, Cathryn M; Surges, Rainer; Maras, Athanasios; Espeseth, Thomas; Gratacos, Monica; Rybakowski, Filip; Gordon, Scott D; Keski-Rahkonen, Anna; Raevuori, Anu; Smith, Philip; Kukull, Walter A; Hudson, James I; Boland, Anne; Reichborn-Kjennerud, Ted; Davidson, Michael; McGrath, Lauren; Monteleone, Palmiero; Karwautz, Andreas; Rothenberger, Aribert; Mannik, Katrin; Baker, Jessica H; O'Toole, Julie K; Middeldorp, Christel M; Borck, Guntram; Arking, Dan; DeLisi, Lynn; Trace, Sara E; Miguel, Eurípedes C; Davis, Oliver S P; Helder, Sietske G; Ehrlich, Stefan; Deleuze, Jean-François; Herpertz-Dahlmann, Beate; Huentelman, Matthew J; Danner, Unna N; Hickie, Ian; Mitchell, James; van Elburg, Annemarie A; Clementi, Maurizio; Alfredsson, Lars; Schulze, Thomas G; Forzan, Monica; Adams, Hieab H H; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Tortorella, Alfonso; Battey, Thomas; Maj, Mario; Pergadia, Michele; Schürks, Markus; Pato, Carlos; Duron, Emmanuelle; Gonidakis, Fragiskos; Thompson, Robert C; Tziouvas, Konstantinos; Papezova, Hana; Yilmaz, Zeynep; Dinan, Timothy; Lehtimäki, Terho; Wagner, Gudrun; Kuntsi, Jonna; Mehta, Divya; Mir, Pablo; Oades, Robert D; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K; Rabionet, Raquel; Donohoe, Gary; Arias Vasquez, Alejandro; Doyle, Alysa E; Thomas, G Neil; Reif, Andreas; Lesch, Klaus-Peter; Cohen-Woods, Sarah; Huang, Jie; Freitag, Christine; Hrafnsdottir, Maria; Kamboh, M Ilyas; Drapeau, Elodie; Rivero, Olga; Palmason, Haukur; Strohmaier, Jana; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Nestadt, Gerald; Visscher, Frank; Smit, Johannes H; Witt, Stephanie H; Duan, Jubao; Dalsgaard, Soeren; Børglum, Anders D; Waldman, Irwin; Hottenga, Jouke-Jan; Wilmot, Beth; Martin, Nicholas G; Larson, Eric B; Levey, Allan I; Molly, Nikolas; Bau, Claiton H D; Maestrini, Elena; Hulette, Christine M; Crosbie, Jennifer; Whelan, Christopher D; Schachar, Russell; Loo, Sandra K; McGough, James J; Grevet, Eugenio H; Medland, Sarah E; Nicolini, Humberto; Marson, Anthony; Hanna, Gregory L; Penninx, Brenda; Robinson, Elise; Jansen, Rick; Weiss, Lauren A; Rogaeva, Ekaterina; Bacchelli, Elena; Zara, Federico; Bailey, Anthony; Matthews, Keith; Okun, Michael S; Haan, Lieuwe; Melle, Ingrid; Morris, Derek; Blackwood, Douglas; McIntosh, Andrew; Bolton, Patrick; Bergen, Sarah E; Farrer, Lindsay A; Dick, Danielle M; Schalling, Martin; Jamain, Stéphane; Bal, Vanessa; Mok, Kin Y; Maaser, Anna; Becker, Felicitas; Montgomery, Grant W; Fischer, Sascha B; Reinbold, Céline S; de Geus, Eco; Fullerton, Janice M; Guzman-Parra, José; Mayoral, Fermin; Hougaard, David; Vardarajan, Badri N; Pakstis, Andrew; Schofield, Peter R; Cichon, Sven; Barnes, Lisa L; Mühleisen, Thomas W; Stroink, Hans; Degenhardt, Franziska; Martinez, Maria; Kurki, Mitja I; Hansen, Thomas; Schumacher, Johannes; Bauer, Michael; Loehrer, Elizabeth; Mitchell, Philip B; Ripatti, Samuli; Gershon, Elliot S; Rice, John; Potash, James B; Zandi, Peter P; Craddock, Nick; Karachanak-Yankova, Sena; Lundervold, Astri J; Zimprich, Fritz; Beach, Thomas G; Paschou, Peristera; Ferrier, I Nicol; Wei, Zhi; Alda, Martin; Andreassen, Ole A; Rouleau, Guy A; Dunn, Erin; Saykin, Andrew J; Li, Qingqin S; Nauck, Matthias; Schoevers, Robert A; Beekman, Aartjan Tf; Anjorin, Adebayo; Knowles, James A; Sandor, Cynthia; Cantor, Rita; Viktorin, Alexander; Arnold, Paul; Strober, Michael; Jicha, Gregory A; Steen, Vidar M; Morris, Huw R; Barr, Cathy L; Bedoya-Berrio, Gabriel; Piacentini, John; Bienvenu, O Joseph; Brentani, Helena; Burton, Christie; Artto, Ville; Khrunin, Andrey; Camarena, Beatriz; Cappi, Carolina; Webber, Caleb; Cath, Danielle; Pinto, Dalila; Cavallini, Maria; Reitz, Christiane; Sharma, Manu; Cusi, Daniele; Kauwe, John S K; Boncoraglio, Giorgio; Darrow, Sabrina; Celestino-Soper, Patrícia; Denys, Damiaan; Derks, Eske M; Dietrich, Andrea; Fernandez, Thomas; Figee, Martijn; St George-Hyslop, Peter; Scherer, Stephen W; Muller-Myhsok, Bertram; Klovins, Janis; Freimer, Nelson; Terwindt, Gisela M; Gerber, Gloria; Dawson, Geraldine; Grados, Marco; Pittenger, Christopher; Plessen, Kerstin; Ramensky, Vasily; Ramos, Eliana M; Reus, Victor; Hartmann, Andreas; Lieberman, Andrew P; Pulit, Sara; Stahl, Eli; Richter, Margaret A; Riddle, Mark A; Göbel, Hartmut; Duque, Frederico; Padyukov, Leonid; Robertson, Mary M; Roessner, Veit; Kučinskas, Vaidutis; Rosário, Maria; Samuels, Jack F; Sandor, Paul; Gasser, Thomas; Stein, Dan J; Tsetsos, Fotis; Bevan, Steve; Van Nieuwerburgh, Filip; Green, Andrew; Pankratz, Vernon S; Kaunisto, Mari; Halmi, Katherine A; Weatherall, Sarah; Yu, Dongmei; Wendland, Jens R; Leber, Markus; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Goes, Fernando S; McLaughlin, Nicole; Hämäläinen, Eija; Klauck, Sabine M; Holliday, Elizabeth; Nestadt, Paul S; Sperling, Michael; Grabe, Hans-Jorgen; Czerski, Piotr M; Depienne, Christel; Lee Chee Keong, Jimmy; Limborska, Svetlana; Loughland, Carmel; Lönnqvist, Jouko; Maher, Brion; Werge, Thomas; Bergen, Andrew W; Hirschtritt, Matthew E; Mattheisen, Manuel; McDonald, Colm; Thijs, Vincent N ; Cruceanu, Cristiana; Mane, Shrikant; Schneider, Lon S; Murphy, Kieran C; Nenadic, Igor; van Os, Jim; Pantelis, Christos; Aschauer, Harald; Pato, Michele; Petryshen, Tracey; Kaye, Walter; Quested, Digby; Jones, Ian R; Kaprio, Jaakko; De-Luca, Daniel Moreno-; Roussos, Panos; Freilinger, Tobias; Sanders, Alan R; Hoekstra, Pieter J; Schall, Ulrich; Smith, Amanda G; Schwab, Sibylle G; Sim, Kang; So, Hon-Cheong; Posthuma, Danielle; Szatkiewicz, Jin Peng; Stögmann, Elisabeth; Herms, Stefan; Subramaniam, Mythily; Huang, Alden; Toncheva, Draga
11112-Jun-2018Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.Berecki, Géza; Howell, Katherine B; Deerasooriya, Yadeesha H; Cilio, Maria Roberta; Oliva, Megan K; Kaplan, David; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven
112Jun-2018Somatic 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 
113Jun-2018Genetic generalized epilepsies.Mullen, Saul A ; Berkovic, Samuel F 
114May-2018Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies?Reid, Christopher Alan; Rollo, Ben; Petrou, Steven; Berkovic, Samuel F 
115Feb-2018Gain-of-function HCN2 variants in genetic epilepsy.Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S ; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven; Reid, Christopher A
11619-Jan-2018KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.Myers, Kenneth A; McGlade, Amelia; Neubauer, Bernd A; Lal, Dennis; Berkovic, Samuel F ; Scheffer, Ingrid E ; Hildebrand, Michael S 
1172-Jan-2018Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.Mullen, Saul A ; Carney, Patrick W ; Roten, Annie ; Ching, Michael ; Lightfoot, Paul A ; Churilov, Leonid ; Nair, Umesh; Li, Melody; Berkovic, Samuel F ; Petrou, Steven; Scheffer, Ingrid E 
118Jan-2018Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Oyrer, Julia; Maljevic, Snezana; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven; Reid, Christopher A
1192018Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.van den Ameele, Jelle; Jedlickova, Ivana; Pristoupilova, Anna; Sieben, Anne; Van Mossevelde, Sara; Ceuterick-de Groote, Chantal; Hůlková, Helena; Matej, Radoslav; Meurs, Alfred; Van Broeckhoven, Christine; Berkovic, Samuel F ; Santens, Patrick; Kmoch, Stanislav; Dermaut, Bart
120Dec-2017Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndromeDamiano, John A; Do, Hongdo; Ozturk, Ezgi; Burgess, Rosemary; Kalnins, Renate; Jones, Nigel C; Dobrovic, Alexander ; Berkovic, Samuel F ; Hildebrand, Michael S