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| | Publication Year | Title | Author(s) |
| 161 | 11-Feb-2015 | CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. | Thomas, Rhys H; Zhang, Lin Mei; Carvill, Gemma L; Archer, John S ; Heavin, Sinéad B; Mandelstam, Simone A; Craiu, Dana; Berkovic, Samuel F ; Gill, Deepak S; Mefford, Heather C; Scheffer, Ingrid E |
| 162 | 7-Jan-2015 | Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease. | Peters, Judith; Rittger, Andrea; Weisner, Rebecca; Knabbe, Johannes; Zunke, Friederike; Rothaug, Michelle; Damme, Markus; Berkovic, Samuel F ; Blanz, Judith; Saftig, Paul; Schwake, Michael |
| 163 | 17-Nov-2014 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | Muona, Mikko; Berkovic, Samuel F ; Dibbens, Leanne M; Oliver, Karen L; Maljevic, Snezana; Bayly, Marta A; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E; Hildebrand, Michael S ; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E ; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D; Ozkara, Cigdem; Andrade, Danielle M; Engelsen, Bernt A; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, João; Privitera, Michael; Espay, Alberto J; Kauffmann, Birgit; Duchowny, Michael; Møller, Rikke S; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E; Daly, Mark J; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina |
| 164 | 24-Oct-2014 | The dynamics of the epileptic brain reveal long-memory processes. | Cook, Mark J; Varsavsky, Andrea; Himes, David; Leyde, Kent; Berkovic, Samuel F ; O'Brien, Terence; Mareels, Iven |
| 5 | 21-Aug-2014 | Somatic mutations in cerebral cortical malformations. | Jamuar, Saumya S; Lam, Anh-Thu N; Kircher, Martin; D'Gama, Alissa M; Wang, Jian; Barry, Brenda J; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E ; Berkovic, Samuel F ; Leventer, Richard J; Shen, Yiping; Wu, Bai Lin; Barkovich, A James; Sahin, Mustafa; Chang, Bernard S; Bamshad, Michael; Nickerson, Deborah A; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W; Walsh, Christopher A |
| 6 | 8-Aug-2014 | Genetics of epilepsy: The testimony of twins in the molecular era. | Vadlamudi, Lata; Milne, Roger L; Lawrence, Kate M; Heron, Sarah E; Eckhaus, Jazmin; Keay, Deborah; Connellan, Mary; Torn-Broers, Yvonne; Howell, R Anne; Mulley, John C; Scheffer, Ingrid E ; Dibbens, Leanne M; Hopper, John L; Berkovic, Samuel F |
| 7 | 1-Aug-2014 | Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. | Bagnall, Richard D; Crompton, Douglas E; Cutmore, Carina; Regan, Brigid M; Berkovic, Samuel F ; Scheffer, Ingrid E ; Semsarian, Christopher |
| 8 | 9-Jul-2014 | Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. | Oliver, Karen L; Lukic, Vesna; Thorne, Natalie P; Berkovic, Samuel F ; Scheffer, Ingrid E ; Bahlo, Melanie |
| 9 | 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 |
| 10 | 17-Apr-2014 | Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. | Reid, Christopher A; Leaw, Bryan; Richards, Kay L; Richardson, Robert; Wimmer, Verena; Yu, Christiaan; Hill-Yardin, Elisa L; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven |
| 11 | 15-Apr-2014 | The hidden genetics of epilepsy-a clinically important new paradigm. | Thomas, Rhys H; Berkovic, Samuel F |
| 12 | 14-Apr-2014 | Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. | Scheffer, Ingrid E ; Heron, Sarah E; Regan, Brigid M; Mandelstam, Simone A; Crompton, Douglas E; Hodgson, Bree L; Licchetta, Laura; Provini, Federica; Bisulli, Francesca; Vadlamudi, Lata; Gecz, Jozef; Connelly, Alan; Tinuper, Paolo; Ricos, Michael G; Berkovic, Samuel F ; Dibbens, Leanne M |
| 13 | 12-Apr-2014 | Genetics of vasovagal syncope. | Klein, Karl Martin; Berkovic, Samuel F |
| 14 | 24-Mar-2014 | A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. | Puskarjov, Martin; Seja, Patricia; Heron, Sarah E; Williams, Tristiana C; Ahmad, Faraz; Iona, Xenia; Oliver, Karen L; Grinton, Bronwyn E; Vutskits, Laszlo; Scheffer, Ingrid E ; Petrou, Steven; Blaesse, Peter; Dibbens, Leanne M; Berkovic, Samuel F ; Kaila, Kai |
| 15 | 12-Mar-2014 | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | Carvill, Gemma L; Weckhuysen, Sarah; McMahon, Jacinta M; Hartmann, Corinna; Møller, Rikke S; Hjalgrim, Helle; Cook, Joseph; Geraghty, Eileen; O'Roak, Brian J; Petrou, Steven; Clarke, Alison; Gill, Deepak S; Sadleir, Lynette G; Muhle, Hiltrud; von Spiczak, Sarah; Nikanorova, Marina; Hodgson, Bree L; Gazina, Elena V; Suls, Arvid; Shendure, Jay; Dibbens, Leanne M; De Jonghe, Peter; Helbig, Ingo; Berkovic, Samuel F ; Scheffer, Ingrid E ; Mefford, Heather C |
| 16 | 31-Jan-2014 | Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. | Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Oliver, Karen L; Dahl, Hans-Henrik M; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 17 | 10-Jan-2014 | Does variation in NIPA2 contribute to genetic generalized epilepsy? | Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 18 | 29-Nov-2013 | Phenotype-genotype complexities: opening DOORS. | Berkovic, Samuel F ; Gecz, Jozef |
| 19 | 25-Oct-2013 | Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. | Kim, Young Ok; Bellows, Susannah; McMahon, Jacinta M; Iona, Xenia; Damiano, John Anthony; Dibbens, Leanne M; Kelley, Kent; Gill, Deepak S; Cross, Judith Helen; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 20 | 25-Sep-2013 | Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. | Mullen, Saul A ; Carvill, Gemma L; Bellows, Susannah; Bayly, Marta A; Trucks, Holger; Lal, Dennis; Sander, Thoman; Berkovic, Samuel F ; Dibbens, Leanne M; Scheffer, Ingrid E ; Mefford, Heather C |
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