|
| | Publication Year | Title | Author(s) |
| 221 | Jan-2018 | Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. | Myers, Kenneth A; Bennett, Mark F; Chow, Chung W; Carden, Susan M; Mandelstam, Simone A; Bahlo, Melanie; Scheffer, Ingrid E |
| 222 | Jan-2018 | Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. | Carvill, Gemma L; Liu, Aijie; Mandelstam, Simone; Schneider, Amy; Lacroix, Amy; Zemel, Matthew; McMahon, Jacinta M; Bello-Espinosa, Luis; Mackay, Mark; Wallace, Geoffrey; Waak, Michaela; Zhang, Jing; Yang, Xiaoling; Malone, Stephen; Zhang, Yue-Hua; Mefford, Heather C; Scheffer, Ingrid E |
| 223 | Jan-2018 | A new classification and class 1 evidence transform clinical practice in epilepsy. | Scheffer, Ingrid E |
| 224 | Jan-2018 | The new definition and classification of seizures and epilepsy. | Falco-Walter, Jessica J; Scheffer, Ingrid E ; Fisher, Robert S |
| 225 | Jan-2018 | Ion 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 |
| 226 | 2018 | Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study. | Myers, Kenneth A; Lightfoot, Paul; Patil, Shekhar G; Cross, J Helen; Scheffer, Ingrid E |
| 227 | 2018 | The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. | Chatron, Nicolas; Møller, Rikke S; Champaigne, Neena L; Schneider, Amy L ; Kuechler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik-Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J; Lacroix, Amy; Marjanovic, Dragan; des Portes, Vincent; Edery, Patrick; Wieczorek, Dagmar; Gardella, Elena; Scheffer, Ingrid E ; Mefford, Heather; Sanlaville, Damien; Carvill, Gemma L; Lesca, Gaetan |
| 228 | 2018 | Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. | Yuskaitis, Christopher J; Ruzhnikov, Maura R Z; Howell, Katherine B; Allen, I Elaine; Kapur, Kush; Dlugos, Dennis J; Scheffer, Ingrid E ; Poduri, Annapurna; Sherr, Elliott H |
| 229 | 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 |
| 230 | 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 |
| 231 | 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 |
| 232 | Oct-2017 | The effect of the ketogenic diet on the developing skeleton. | Simm, Peter J; Bicknell-Royle, Jillian; Lawrie, Jock; Nation, Judy; Draffin, Kellie; Stewart, Karen G; Cameron, Fergus J; Scheffer, Ingrid E ; Mackay, Mark T |
| 233 | 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 |
| 234 | 9-Aug-2017 | Not all SCN1A epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype | Sadleir, Lynette G; Mountier, Emily I; Gill, Deepak; Davis, Suzanne; Joshi, Charuta; DeVile, Catherine; Kurian, Manju A; Mandelstam, Simone; Wirrell, Elaine; Nickels, Katherine C; Murali, Hema R; Carvill, Gemma; Myers, Candace T; Mefford, Heather C; Scheffer, Ingrid E |
| 235 | 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 |
| 236 | Aug-2017 | How long for epilepsy remission in the ILAE definition? | Fisher, Robert S; Acevedo, Carlos; Arzimanoglou, Alexis; Bogacz, Alicia; Cross, J Helen; Elger, Christian E; Engel, Jerome Jr; Forsgren, Lars; French, Jacqueline A; Hesdorffer, Dale C; Lee, Byung-In; Mathern, Gary W; Moshe, Solomon L; Perucca, Emilio; Scheffer, Ingrid E ; Tomson, Torbjörn; Watanabe, Masako; Wiebe, Samuel |
| 237 | 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 |
| 238 | Jul-2017 | GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. | Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E ; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Di Donato, Nataliya; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R |
| 239 | 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 |
| 240 | 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 |
Loading...
2
0
20
0
false
0000-0002-2311-2174