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| | Publication Year | Title | Author(s) |
| 1 | 16-Jun-2014 | 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S ; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R; Winterer, Georg; Lerche, Holger; Nürnberg, Peter; Mefford, Heather C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Beckmann, Jacques S; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer, Bernd A |
| 2 | 2019 | 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction. | Fisher, Robert S; Cross, Helen; D'Souza, Carol; French, Jacqueline A; Haut, Sheryl; Higurashi, Norimichi; Hirsch, Edouard; Jansen, Floor E; Peltola, Jukka; Moshé, Solomon L; Perucca, Emilio; Lagae, Lieven; Roulet Perez, Eliane; Schulze-Bonhage, Andreas; Scheffer, Ingrid E ; Somerville, Ernest; Sperling, Michael R; Wiebe, Samuel; Yacubian, Elza Márcia; Zuberi, Sameer |
| 3 | 19-Jun-2020 | A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. | Hildebrand, Joanne M; Kauppi, Maria; Majewski, Ian J; Liu, Zikou; Cox, Allison J; Miyake, Sanae; Petrie, Emma J; Silk, Michael A; Li, Zhixiu; Tanzer, Maria C; Brumatti, Gabriela; Young, Samuel N; Hall, Cathrine; Garnish, Sarah E; Corbin, Jason; Stutz, Michael D; Di Rago, Ladina; Gangatirkar, Pradnya; Josefsson, Emma C; Rigbye, Kristin; Anderton, Holly; Rickard, James A; Tripaydonis, Anne; Sheridan, Julie; Scerri, Thomas S; Jackson, Victoria E; Czabotar, Peter E; Zhang, Jian-Guo; Varghese, Leila; Allison, Cody C; Pellegrini, Marc; Tannahill, Gillian M; Hatchell, Esme C; Willson, Tracy A; Stockwell, Dina; de Graaf, Carolyn A; Collinge, Janelle; Hilton, Adrienne; Silke, Natasha; Spall, Sukhdeep K; Chau, Diep; Athanasopoulos, Vicki; Metcalf, Donald; Laxer, Ronald M; Bassuk, Alexander G; Darbro, Benjamin W; Fiatarone Singh, Maria A; Vlahovich, Nicole; Hughes, David; Kozlovskaia, Maria; Ascher, David B; Warnatz, Klaus; Venhoff, Nils; Thiel, Jens; Biben, Christine; Blum, Stefan; Reveille, John; Hildebrand, Michael S ; Vinuesa, Carola G; McCombe, Pamela; Brown, Matthew A; Kile, Benjamin T; McLean, Catriona; Bahlo, Melanie; Masters, Seth L; Nakano, Hiroyasu; Ferguson, Polly J; Murphy, James M; Alexander, Warren S; Silke, John |
| 4 | Apr-2016 | A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. | Ha, Thuong T; Sadleir, Lynette G; Mandelstam, Simone A; Paterson, Sarah J; Scheffer, Ingrid E ; Gecz, Jozef; Corbett, Mark A |
| 5 | Jan-2018 | A new classification and class 1 evidence transform clinical practice in epilepsy. | Scheffer, Ingrid E |
| 6 | Jan-2020 | A patient-centered approach to understanding long-term psychosocial adjustment and meaning-making, 15 to 20 years after epilepsy surgery. | Coleman, Honor; McIntosh, Anne M ; Wilson, Sarah J |
| 7 | 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 |
| 8 | 4-Dec-2018 | A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. | O'Neill, Adam C; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J; Kirk, Edwin P; Fry, Andrew; Pilz, Daniela T; Morgan, Tim; Jenkins, Zandra A; Drukker, Micha; Berkovic, Samuel F ; Scheffer, Ingrid E ; Guerrini, Renzo; Markie, David M; Götz, Magdalena; Cappello, Silvia; Robertson, Stephen P |
| 9 | 2019 | A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. | Eising, Else; Carrion-Castillo, Amaia; Vino, Arianna; Strand, Edythe A; Jakielski, Kathy J; Scerri, Thomas S; Hildebrand, Michael S ; Webster, Richard; Ma, Alan; Mazoyer, Bernard; Francks, Clyde; Bahlo, Melanie; Scheffer, Ingrid E ; Morgan, Angela T; Shriberg, Lawrence D; Fisher, Simon E |
| 10 | 4-May-2020 | A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. | Kolc, Kristy L; Sadleir, Lynette G; Depienne, Christel; Marini, Carla; Scheffer, Ingrid E ; Møller, Rikke S; Trivisano, Marina; Specchio, Nicola; Pham, Duyen; Kumar, Raman; Roberts, Rachel; Gecz, Jozef |
| 11 | 2019 | A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. | Kolc, Kristy L; Sadleir, Lynette G; Scheffer, Ingrid E ; Ivancevic, Atma; Roberts, Rachel; Pham, Duyen H; Gecz, Jozef |
| 12 | 6-Dec-2018 | Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. | Carvill, Gemma L; Engel, Krysta L; Ramamurthy, Aishwarya; Cochran, J Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L ; Hollingsworth, Georgie; Holder, Dylan H; Regan, Brigid M; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E Martina; Nguyen, John; Barsh, Gregory S; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel F ; De Jonghe, Peter; Scheffer, Ingrid E ; Myers, Richard M; Cooper, Gregory M; Mefford, Heather C |
| 13 | 3-Jan-2018 | Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. | Pederick, Daniel T; Richards, Kay L; Piltz, Sandra G; Kumar, Raman; Mincheva-Tasheva, Stefka; Mandelstam, Simone A; Dale, Russell C; Scheffer, Ingrid E ; Gecz, Jozef; Petrou, Steven; Hughes, James N; Thomas, Paul Q |
| 14 | May-2016 | Abnormal cognitive network interactions in Lennox-Gastaut syndrome: A potential mechanism of epileptic encephalopathy. | Warren, Aaron E L; Abbott, David F ; Vaughan, David N; Jackson, Graeme D ; Archer, John S |
| 15 | 10-Jan-2017 | Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. | Sethi, Moksh ; Kowalczyk, Magdalena A; Dalic, Linda J ; Archer, John S ; Jackson, Graeme D |
| 16 | 1-Feb-2013 | Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects. | Gleich, Kurt; Desmond, Michael J; Lee, Darren; Berkovic, Samuel F ; Dibbens, Leanne M; Katerelos, Marina ; Bayly, Marta A; Fraser, Scott A; Martinello, Paul; Vears, Danya F; Mount, Peter; Power, David Anthony |
| 17 | 23-Jun-2010 | Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. | Mullen, Saul A ; Suls, A; De Jonghe, Peter; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 18 | 10-Oct-2006 | Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults. | Vadlamudi, L; Vears, Danya F; Hughes, Andrew J ; Pedagogus, E; Berkovic, Samuel F |
| 19 | 18-Aug-2021 | Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial. | Scheffer, Ingrid E ; Halford, Jonathan J; Miller, Ian; Nabbout, Rima; Sanchez-Carpintero, Rocio; Shiloh-Malawsky, Yael; Wong, Matthew; Zolnowska, Marta; Checketts, Daniel; Dunayevich, Eduardo; Devinsky, Orrin |
| 20 | Feb-2018 | ADGRV1 is implicated in myoclonic epilepsy. | Myers, Kenneth A; Nasioulas, Steven; Boys, Amber; McMahon, Jacinta M; Slater, Howard; Lockhart, Paul; Sart, Desirée du; Scheffer, Ingrid E |
