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Samuel F Berkovic

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

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Author:  Berkovic, Samuel F
Author:  Oliver, Karen L

Results 1-20 of 25 (Search time: 0.022 seconds).

Publication YearTitleAuthor(s)
1Nov-2023Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture.Harris, Rebekah V; Oliver, Karen L; Perucca, Piero ; Striano, Pasquale; Labate, Angelo; Riva, Antonella; Grinton, Bronwyn E; Reid, Joshua; Hutton, Jessica; Todaro, Marian; O'Brien, Terence J; Kwan, Patrick; Sadleir, Lynette G; Mullen, Saul A ; Dazzo, Emanuela; Crompton, Douglas E; Scheffer, Ingrid E ; Bahlo, Melanie; Nobile, Carlo; Gambardella, Antonio; Berkovic, Samuel F 
2Aug-2023IRF2BPL: A new genotype for progressive myoclonus epilepsies.Costa, Cinzia; Oliver, Karen L; Calvello, Carmen; Cameron, Jillian M ; Imperatore, Valentina; Tonelli, Laura; Colavito, Davide; Franceschetti, Silvana; Canafoglia, Laura; Berkovic, Samuel F ; Prontera, Paolo
3Jul-2023Recognition and Epileptology of Protracted CLN3 Disease.Cameron, Jillian M ; Damiano, John A; Grinton, Bronwyn; Carney, Patrick W ; McKelvie, Penny; Silbert, Peter; Lawn, Nicholas; Scheffer, Ingrid E ; Oliver, Karen L; Hildebrand, Michael S ; Berkovic, Samuel F 
43-Nov-2022A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.Grinton, Bronwyn E; Robertson, Erandee; Fearnley, Liam G; Scheffer, Ingrid E ; Marson, Anthony G; O'Brien, Terence J; Pickrell, W Owen; Rees, Mark I; Sisodiya, Sanjay M; Balding, David J; Bennett, Mark F ; Bahlo, Melanie; Berkovic, Samuel F ; Oliver, Karen L
5Jul-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 
612-Nov-2021Progressive 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 
71-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
8Feb-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
9Jul-2020Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.Bennett, Mark F ; Oliver, Karen L; Regan, Brigid M; Bellows, Susannah T; Schneider, Amy L ; Rafehi, Haloom; Sikta, Neblina; Crompton, Douglas E; Coleman, Matthew; Hildebrand, Michael S ; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bahlo, Melanie
10May-2019No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.Schulz, Herbert; Ruppert, Ann-Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; S Vari, Maria; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Bianchi, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J; Kunz, Wolfram S; Møller, Rikke S; Oliver, Karen L; Bellows, Susannah T; Mullen, Saul A ; Berkovic, Samuel F ; Scheffer, Ingrid E ; Caglayan, Hande; Ozbek, Ugur; Hoffmann, Per; Schramm, Sara; Tsortouktzidis, Despina; Becker, Albert J; Sander, Thomas
111-Jan-2019Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.Berkovic, Samuel F ; Oliver, Karen L; Canafoglia, Laura; Krieger, Penina; Damiano, John A; Hildebrand, Michael S ; Morbin, Michela; Vears, Danya F; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M; Franceschetti, Silvana; Carpenter, Stirling
12Aug-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 
1322-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
145-Oct-2017De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.Myers, Candace T; Stong, Nicholas; Mountier, Emily I; Helbig, Katherine L; Freytag, Saskia; Sullivan, Joseph E; Ben Zeev, Bruria; Nissenkorn, Andreea; Tzadok, Michal; Heimer, Gali; Shinde, Deepali N; Rezazadeh, Arezoo; Regan, Brigid M; Oliver, Karen L; Ernst, Michelle E; Lippa, Natalie C; Mulhern, Maureen S; Ren, Zhong; Poduri, Annapurna; Andrade, Danielle M; Bird, Lynne M; Bahlo, Melanie; Berkovic, Samuel F ; Lowenstein, Daniel H; Scheffer, Ingrid E ; Sadleir, Lynette G; Goldstein, David B; Mefford, Heather C; Heinzen, Erin L
15May-2017Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Oliver, Karen L; Franceschetti, Silvana; Milligan, Carol J; Muona, Mikko; Mandelstam, Simone A; Canafoglia, Laura; Boguszewska-Chachulska, Anna M; Korczyn, Amos D; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben-Zeev, Bruria; Straussberg, Rachel; Panzica, Ferruccio; Massano, João; Friedman, Daniel; Crespel, Arielle; Engelsen, Bernt A; Andermann, Frederick; Andermann, Eva; Spodar, Krystyna; Lasek-Bal, Anetta; Riguzzi, Patrizia; Pasini, Elena; Tinuper, Paolo; Licchetta, Laura; Gardella, Elena; Lindenau, Matthias; Wulf, Annette; Møller, Rikke S; Benninger, Felix; Afawi, Zaid; Rubboli, Guido; Reid, Christopher A; Maljevic, Snezana; Lerche, Holger; Lehesjoki, Anna-Elina; Petrou, Steven; Berkovic, Samuel F 
16Mar-2017SCN1A clinical spectrum includes the self-limited focal epilepsies of childhoodKivity, Sara; Oliver, Karen L; Afawi, Zaid; Damiano, John A; Arsov, Todor; Bahlo, Melanie; Berkovic, Samuel F 
179-Aug-2016Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Berkovic, Samuel F ; Staropoli, John F; Carpenter, Stirling; Oliver, Karen L; Kmoch, Stanislav; Anderson, Glenn W; Damiano, John A; Hildebrand, Michael S ; Sims, Katherine B; Cotman, Susan L; Bahlo, Melanie; Smith, Katherine R; Cadieux-Dion, Maxime; Cossette, Patrick; Jedličková, Ivana; Přistoupilová, Anna; Mole, Sara E
18Apr-2016Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutationBenninger, Felix; Afawi, Zaid; Korczyn, Amos D; Oliver, Karen L; Pendziwiat, Manuela; Masayuki, Nakamura; Sano, Akira; Helbig, Ingo; Berkovic, Samuel F ; Blatt, Ilan
1923-Feb-2016Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationAfawi, Zaid; Oliver, Karen L; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y; Helbig, Katherine L; Goldberg-Stern, Hadassa; Misk, Adel J; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H; Mangelsdorf, Marie; MacPherson, James N; Carvill, Gemma L; Mefford, Heather C; Jackson, Graeme D ; Scheffer, Ingrid E ; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E; Corbett, Mark A; Mulley, John C; Dibbens, Leanne M; Korczyn, Amos D; Berkovic, Samuel F 
20Oct-2015A novel mutation af CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathyLicchetta, Laura; Bisulli, Francesca; Fietz, M; Valentino, ML; Morbin, Michela; Mostacci, B; Oliver, Karen L; Berkovic, Samuel F ; Tinuper, Paolo