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| | Publication Year | Title | Author(s) |
| 121 | 2-Nov-2017 | High 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 |
| 122 | Nov-2017 | A 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 |
| 123 | 5-Oct-2017 | De 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 |
| 124 | Oct-2017 | Exome 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 |
| 125 | Oct-2017 | Optimizing 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 |
| 126 | 19-Sep-2017 | Genetic epilepsy with febrile seizures plus: refining the spectrum | Zhang, 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 |
| 127 | Aug-2017 | Familial 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 |
| 128 | Aug-2017 | Familial mesial temporal lobe epilepsy and the borderland of déjà vu | Perucca, 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 |
| 129 | Jul-2017 | Evaluation 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 |
| 130 | May-2017 | Myoclonus 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 |
| 131 | Apr-2017 | ILAE 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 |
| 132 | 23-Mar-2017 | Is 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 |
| 133 | 1-Mar-2017 | Reply: 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 |
| 134 | Mar-2017 | Frequency 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 |
| 135 | Mar-2017 | SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood | Kivity, Sara; Oliver, Karen L; Afawi, Zaid; Damiano, John A; Arsov, Todor; Bahlo, Melanie; Berkovic, Samuel F |
| 136 | Mar-2017 | Real-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 |
| 137 | Feb-2017 | De novo SCN1A pathogenic variants in the GEFS+ spectrum: not always a familial syndrome | Myers, Kenneth A; Burgess, Rosemary; Afawi, Zaid; Damiano, John A; Berkovic, Samuel F ; Hildebrand, Michael S ; Scheffer, Ingrid E |
| 138 | Jan-2017 | Synaptic Zn2+ and febrile seizure susceptibility | Reid, Christopher A; Hildebrand, Michael S ; Mullen, Saul A ; Hildebrand, Joanne M; Berkovic, Samuel F ; Petrou, Steven |
| 139 | 2017 | Cannabinoids for Epilepsy - Real Data, at Last. | Berkovic, Samuel F |
| 140 | Dec-2016 | Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? | Rigbye, Kristin A; van Hasselt, Peter M; Burgess, Rosemary; Damiano, John A; Mullen, Saul A ; Petrovski, Slavé; Puranam, Ram S; van Gassen, Koen L I; Gecz, Jozef; Scheffer, Ingrid E ; McNamara, James O; Berkovic, Samuel F ; Hildebrand, Michael S |
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