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| | Publication Year | Title | Author(s) |
| 221 | 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 |
| 222 | 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 |
| 223 | 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 |
| 224 | 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 |
| 225 | 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 |
| 226 | 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 |
| 227 | 20-Jul-2017 | Genetic Basis of Sudden Unexpected Death in Epilepsy. | Bagnall, Richard D; Crompton, Douglas E; Semsarian, Christopher |
| 228 | 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 |
| 229 | Jun-2017 | Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. | Ewans, Lisa J; Field, Michael; Zhu, Ying; Turner, Gillian; Leffler, Melanie; Dinger, Marcel E; Cowley, Mark J; Buckley, Michael F; Scheffer, Ingrid E ; Jackson, Matilda R; Roscioli, Tony; Shoubridge, Cheryl |
| 230 | 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 |
| 231 | Apr-2017 | Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. | Fisher, Robert S; Cross, J Helen; French, Jacqueline A; Higurashi, Norimichi; Hirsch, Edouard; Jansen, Floor E; Lagae, Lieven; Moshé, Solomon L; Peltola, Jukka; Roulet Perez, Eliane; Scheffer, Ingrid E ; Zuberi, Sameer M |
| 232 | Apr-2017 | Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of Cases. | Myers, Kenneth A; McMahon, Jacinta M; Mandelstam, Simone A; Mackay, Mark T; Kalnins, Renate M; Leventer, Richard J; Scheffer, Ingrid E |
| 233 | 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 |
| 234 | 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 |
| 235 | 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 |
| 236 | 2017 | Reply. | Helbig, Katherine L; Hedrich, Ulrike B S; Scheffer, Ingrid E ; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R |
| 237 | 2017 | Cannabinoids for Epilepsy - Real Data, at Last. | Berkovic, Samuel F |
| 238 | 9-Aug-2016 | Diagnosis 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 |
| 239 | Jul-2016 | SCN8A encephalopathy: Research progress and prospects. | Meisler, Miriam H; Helman, Guy; Hammer, Michael F; Fureman, Brandy E; Gaillard, William D; Goldin, Alan L; Hirose, Shinichi; Ishii, Atsushi; Kroner, Barbara L; Lossin, Christoph; Mefford, Heather C; Parent, Jack M; Patel, Manoj; Schreiber, John; Stewart, Randall; Whittemore, Vicky; Wilcox, Karen; Wagnon, Jacy L; Pearl, Phillip L; Vanderver, Adeline; Scheffer, Ingrid E |
| 240 | 6-Jun-2016 | White matter hyperintensities on brain magnetic resonance imaging in people with epilepsy: a hospital-based study | Mao, YT; Goh, E; Churilov, Leonid ; McIntosh, A ; Ren, YF; O'Brien, TJ; Davis, S; Dong, Q; Yan, B; Kwan, P |
