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| | Publication Year | Title | Author(s) |
| 201 | Aug-2018 | Evidence 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 |
| 202 | Jul-2018 | Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk. | Myers, Kenneth A; Bello-Espinosa, Luis E; Symonds, Joseph D; Zuberi, Sameer M; Clegg, Robin; Sadleir, Lynette G; Buchhalter, Jeffrey; Scheffer, Ingrid E |
| 203 | Jul-2018 | Female-specific Association Between Variants on Chromosome 9 and Self-reported Diagnosis of Irritable Bowel Syndrome. | Bonfiglio, Ferdinando; Zheng, Tenghao; Garcia-Etxebarria, Koldo; Hadizadeh, Fatemeh; Bujanda, Luis; Bresso, Francesca; Agreus, Lars; Andreasson, Anna; Dlugosz, Aldona; Lindberg, Greger; Schmidt, Peter T; Karling, Pontus; Ohlsson, Bodil; Simren, Magnus; Walter, Susanna; Nardone, Gerardo; Cuomo, Rosario; Usai-Satta, Paolo; Galeazzi, Francesca; Neri, Matteo; Portincasa, Piero; Bellini, Massimo; Barbara, Giovanni; Latiano, Anna; Hübenthal, Matthias; Thijs, Vincent N ; Netea, Mihai G; Jonkers, Daisy; Chang, Lin; Mayer, Emeran A; Wouters, Mira M; Boeckxstaens, Guy; Camilleri, Michael; Franke, Andre; Zhernakova, Alexandra; D'Amato, Mauro |
| 204 | 12-Jun-2018 | Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. | Berecki, Géza; Howell, Katherine B; Deerasooriya, Yadeesha H; Cilio, Maria Roberta; Oliva, Megan K; Kaplan, David; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven |
| 205 | Jun-2018 | Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. | Kossoff, Eric H; Zupec-Kania, Beth A; Auvin, Stéphane; Ballaban-Gil, Karen R; Christina Bergqvist, A G; Blackford, Robyn; Buchhalter, Jeffrey R; Caraballo, Roberto H; Cross, J Helen; Dahlin, Maria G; Donner, Elizabeth J; Guzel, Orkide; Jehle, Rana S; Klepper, Joerg; Kang, Hoon-Chul; Lambrechts, Danielle A; Liu, Y M Christiana; Nathan, Janak K; Nordli, Douglas R; Pfeifer, Heidi H; Rho, Jong M; Scheffer, Ingrid E ; Sharma, Suvasini; Stafstrom, Carl E; Thiele, Elizabeth A; Turner, Zahava; Vaccarezza, Maria M; van der Louw, Elles J T M; Veggiotti, Pierangelo; Wheless, James W; Wirrell, Elaine C |
| 206 | Jun-2018 | Genetic generalized epilepsies. | Mullen, Saul A ; Berkovic, Samuel F |
| 207 | 11-May-2018 | A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy. | Howell, Katherine B; Eggers, Stefanie; Dalziel, Kim; Riseley, Jessica; Mandelstam, Simone; Myers, Candace T; McMahon, Jacinta M; Schneider, Amy; Carvill, Gemma L; Mefford, Heather C; Scheffer, Ingrid E ; Harvey, A Simon |
| 208 | 3-May-2018 | Epilepsy. | Devinsky, Orrin; Vezzani, Annamaria; O'Brien, Terence J; Jette, Nathalie; Scheffer, Ingrid E ; de Curtis, Marco; Perucca, Piero |
| 209 | May-2018 | Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies? | Reid, Christopher Alan; Rollo, Ben; Petrou, Steven; Berkovic, Samuel F |
| 210 | May-2018 | Myoclonic absence seizures with complex gestural automatisms. | Myers, Kenneth A; Scheffer, Ingrid E |
| 211 | 16-Feb-2018 | The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy. | Villaluz, Mel Michel; Lomax, Lysa Boissé; Jadhav, Trupti; Cross, J Helen; Scheffer, Ingrid E |
| 212 | Feb-2018 | Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. | Myers, Kenneth A; White, Susan M; Mohammed, Shehla; Metcalfe, Kay A; Fry, Andrew E; Wraige, Elisabeth; Vasudevan, Pradeep C; Balasubramanian, Meena; Scheffer, Ingrid E |
| 213 | Feb-2018 | Gain-of-function HCN2 variants in genetic epilepsy. | Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S ; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven; Reid, Christopher A |
| 214 | 2-Jan-2018 | Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine. | Mullen, Saul A ; Carney, Patrick W ; Roten, Annie ; Ching, Michael ; Lightfoot, Paul A ; Churilov, Leonid ; Nair, Umesh; Li, Melody; Berkovic, Samuel F ; Petrou, Steven; Scheffer, Ingrid E |
| 215 | 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 |
| 216 | Jan-2018 | A new classification and class 1 evidence transform clinical practice in epilepsy. | Scheffer, Ingrid E |
| 217 | 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 |
| 218 | 2018 | Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. | van den Ameele, Jelle; Jedlickova, Ivana; Pristoupilova, Anna; Sieben, Anne; Van Mossevelde, Sara; Ceuterick-de Groote, Chantal; Hůlková, Helena; Matej, Radoslav; Meurs, Alfred; Van Broeckhoven, Christine; Berkovic, Samuel F ; Santens, Patrick; Kmoch, Stanislav; Dermaut, Bart |
| 219 | 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 |
| 220 | 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 |
