Samuel F Berkovic

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

Results 121-140 of 328 (Search time: 0.01 seconds).

Publication YearTitleAuthor(s)
1212-Nov-2017High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Hamdan, Fadi F; Myers, Candace T; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, François; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F ; Sadleir, Lynette G; Campeau, Philippe M; Kibar, Zoha; Lafrenière, Ronald G; Girard, Simon L; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A; Scheffer, Ingrid E ; Mefford, Heather C; Andrade, Danielle M; Rossignol, Elsa; Minassian, Berge A; Michaud, Jacques L; Meloche, Caroline; Retterer, Kyle; Cho, Megan T; Rosenfeld, Jill A; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E; Thomas, Rhys H; Shelagh, Joss; Hurst, Jane A; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K; Dorison, Sara J; Benke, Paul J; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T; Bruel, Ange-Line; Verloes, Alain; Õunap, Katrin; Wojcik, Monica H; Albert, Dara V F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S; Bizargity, Peyman; Bacino, Carlos A; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J; Purcarin, Gabriela; O'Byrne, James J; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, Stéphane; Nava, Caroline; Hiatt, Susan M; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R; Frye, Richard E; Jarjour, Imad T; Jacques, Stéphanie; Boucher, Renee-Myriam
122Nov-2017A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua; Ren, Zhong; Kamalakaran, Sitharthan; O'Driscoll-Collins, Ailbhe; Berkovic, Samuel F ; Scheffer, Ingrid E ; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H; Allen, Andrew S; Heinzen, Erin L; Goldstein, David B
1235-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
124Oct-2017Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.Bagnall, Richard D; Ingles, Jodie; Yeates, Laura; Berkovic, Samuel F ; Semsarian, Christopher
125Oct-2017Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.Traynelis, Joshua; Silk, Michael; Wang, Quanli; Berkovic, Samuel F ; Liu, Liping; Ascher, David B; Balding, David J; Petrovski, Slavé
12619-Sep-2017Genetic epilepsy with febrile seizures plus: refining the spectrumZhang, Yue-Hua; Burgess, Rosemary; Malone, Jodie P; Glubb, Georgie C; Helbig, Katherine L; Vadlamudi, Lata; Kivity, Sara; Afawi, Zaid; Bleasel, Andrew; Grattan-Smith, Padraic; Grinton, Bronwyn E; Bellows, Susannah T; Vears, Danya F; Damiano, John A; Goldberg-Stern, Hadassa; Korczyn, Amos D; Dibbens, Leanne M; Ruzzo, Elizabeth K; Hildebrand, Michael S ; Berkovic, Samuel F ; Scheffer, Ingrid E 
127Aug-2017Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.Corbett, Mark A; Turner, Samantha J; Gardner, Alison; Silver, Jeremy; Stankovich, Jim; Leventer, Richard J; Derry, Christopher P; Carroll, Renée; Ha, Thuong; Scheffer, Ingrid E ; Bahlo, Melanie; Jackson, Graeme D ; Mackey, David A; Berkovic, Samuel F ; Gecz, Jozef
128Aug-2017Familial mesial temporal lobe epilepsy and the borderland of déjà vuPerucca, Piero ; Crompton, Douglas E; Bellows, Susannah T; McIntosh, Anne M ; Kalincik, Tomas; Newton, Mark R; Vajda, Frank JE; Scheffer, Ingrid E ; Kwan, Patrick; O'Brien, Terence J; Tan, K Meng; Berkovic, Samuel F 
129Jul-2017Evaluation of GLUT1 variation in non-acquired focal epilepsy.Peeraer, Alexander; Damiano, John A; Bellows, Susannah T; Scheffer, Ingrid E ; Berkovic, Samuel F ; Mullen, Saul A ; Hildebrand, Michael S 
130May-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 
131Apr-2017ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.Scheffer, Ingrid E ; Berkovic, Samuel F ; Capovilla, Giuseppe; Connolly, Mary B; French, Jacqueline; Guilhoto, Laura; Hirsch, Edouard; Jain, Satish; Mathern, Gary W; Moshé, Solomon L; Nordli, Douglas R; Perucca, Emilio; Tomson, Torbjörn; Wiebe, Samuel; Zhang, Yue-Hua; Zuberi, Sameer M
13223-Mar-2017Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?McGlade, Amelia; Myers, Kenneth A; Berkovic, Samuel F ; Scheffer, Ingrid E ; Petrovski, Slavé; Hildebrand, Michael S 
1331-Mar-2017Reply: Transcranial magnetic stimulation as a biomarker for epilepsy.Badawy, Radwa A B; Macdonell, Richard A L ; Berkovic, Samuel F ; Vogrin, Simon J; Jackson, Graeme D ; Cook, Mark J
134Mar-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 
135Mar-2017Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.Damiano, John A; Burgess, Rosemary; Kivity, Sara; Lerman-Sagie, Tally; Afawi, Zaid; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S 
136Mar-2017Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.Perucca, Piero ; Scheffer, Ingrid E ; Harvey, A Simon; James, Paul A; Lunke, Sebastian; Thorne, Natalie; Gaff, Clara; Regan, Brigid M; Damiano, John A; Hildebrand, Michael S ; Berkovic, Samuel F ; O'Brien, Terence J; Kwan, Patrick
137Feb-2017De novo SCN1A pathogenic variants in the GEFS+ spectrum: not always a familial syndromeMyers, Kenneth A; Burgess, Rosemary; Afawi, Zaid; Damiano, John A; Berkovic, Samuel F ; Hildebrand, Michael S ; Scheffer, Ingrid E 
138Jan-2017Synaptic Zn2+ and febrile seizure susceptibilityReid, Christopher A; Hildebrand, Michael S ; Mullen, Saul A ; Hildebrand, Joanne M; Berkovic, Samuel F ; Petrou, Steven
1392017Cannabinoids for Epilepsy - Real Data, at Last.Berkovic, Samuel F 
140Dec-2016Periventricular nodular heterotopia: detection of abnormal microanatomic fiber structures with whole-brain diffusion MR imaging tractographyFarquharson, Shawna ; Tournier, Jacques-Donald; Calamante, Fernando; Mandelstam, Simone A; Burgess, Rosemary; Schneider, Michal E; Berkovic, Samuel F ; Scheffer, Ingrid E ; Jackson, Graeme D ; Connelly, Alan