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| | Publication Year | Title | Author(s) |
| 1 | 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 |
| 2 | 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 |
| 3 | 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 |
| 4 | 7-Jun-2013 | Etiology of hippocampal sclerosis: evidence for a predisposing familial morphologic anomaly. | Tsai, Meng-Han; Pardoe, Heath R; Perchyonok, Yuliya ; Fitt, Gregory J ; Scheffer, Ingrid E ; Jackson, Graeme D ; Berkovic, Samuel F |
| 5 | 16-Apr-2013 | Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26. | Klein, Karl Martin; Bromhead, Catherine J; Smith, Katherine R; O'Callaghan, Christopher J ; Corcoran, Susan J; Heron, Sarah E; Iona, Xenia; Hodgson, Bree L; McMahon, Jacinta M; Lawrence, Kate M; Scheffer, Ingrid E ; Dibbens, Leanne M; Bahlo, Melanie; Berkovic, Samuel F |
| 6 | 7-Jan-2013 | Clinical genetic study of the epilepsy-aphasia spectrum. | Tsai, Meng-Han; Vears, Danya F; Turner, Samantha J; Smith, Robert L; Berkovic, Samuel F ; Sadleir, Lynette G; Scheffer, Ingrid E |
| 7 | 10-Jul-2012 | Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. | Klein, Karl Martin; O'Brien, Terence J; Praveen, Kavita; Heron, Sarah E; Mulley, John C; Foote, Simon; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 8 | 5-Jan-2012 | Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. | Vears, Danya F; Tsai, Meng-Han; Sadleir, Lynette G; Grinton, Bronwyn E; Lillywhite, Leasha M; Carney, Patrick W ; Harvey, A Simon; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 9 | 5-May-2011 | Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. | Arsov, Todor; Smith, Katherine R; Damiano, John Anthony; Franceschetti, Silvana; Canafoglia, Laura; Bromhead, Catherine J; Andermann, Eva; Vears, Danya F; Cossette, Patrick; Rajagopalan, Sulekha; McDougall, Alan; Sofia, Vito; Farrell, Michael; Aguglia, Umberto; Zini, Andrea; Meletti, Stefano; Morbin, Michela; Mullen, Saul A ; Andermann, Frederick; Mole, Sara E; Bahlo, Melanie; Berkovic, Samuel F |
| 10 | 23-Sep-2010 | Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. | Crompton, Douglas E; Scheffer, Ingrid E ; Taylor, Isabella; Cook, Mark J; McKelvie, Penelope A; Vears, Danya F; Lawrence, Kate M; McMahon, Jacinta M; Grinton, Bronwyn E; McIntosh, Anne M ; Berkovic, Samuel F |
| 11 | 1-Sep-2010 | Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. | Lawrence, Kate M; Mei, Davide; Newton, Mark R; Leventer, Richard J; Guerrini, Renzo; Berkovic, Samuel F |
| 12 | 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 |
| 13 | 9-Jul-2008 | Benign occipital epilepsies of childhood: clinical features and genetics. | Taylor, Isabella; Berkovic, Samuel F ; Kivity, Sara; Scheffer, Ingrid E |
| 14 | 29-Jan-2008 | Epilepsy and mental retardation limited to females: an under-recognized disorder. | Scheffer, Ingrid E ; Turner, Samantha J; Dibbens, Leanne M; Bayly, Marta A; Friend, Kathryn; Hodgson, Bree; Burrows, Linda; Shaw, Marie; Wei, Chen; Ullmann, Reinhard; Ropers, Hans-Hilger; Szepetowski, Pierre; Haan, Eric; Mazarib, Aziz; Afawi, Zaid; Neufeld, Miriam Y; Andrews, P Ian; Wallace, Geoffrey; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Derry, Christopher P; Korczyn, Amos D; Gecz, Jozef; Mulley, John C; Berkovic, Samuel F |
| 15 | 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 |
| 16 | 1-Mar-2006 | Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration. | Vadlamudi, Lata; Kjeldsen, Marianne J; Corey, Linda A; Solaas, Marit H; Friis, Mogen L; Pellock, John M; Nakken, Karl O; Milne, Roger L; Scheffer, Ingrid E ; Harvey, A Simon; Hopper, John L; Berkovic, Samuel F |
| 17 | 5-Jan-2005 | A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. | Berkovic, Samuel F ; Mazarib, Aziz; Walid, Simri; Neufeld, Miriam Y; Manelis, Judith; Nevo, Yoram; Korczyn, Amos D; Yin, Jinggang; Xiong, Lan; Pandolfo, Massimo; Mulley, John C; Wallace, Robyn H |
| 18 | 1-Sep-2004 | Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. | Berkovic, Samuel F ; Serratosa, Jose M; Phillips, Hilary A; Xiong, Lan; Andermann, Eva; Díaz-Otero, Fernando; Gómez-Garre, Pilar; Martín, Mercedes; Fernández-Bullido, Yolanda; Andermann, Frederick; Lopes-Cendes, Iscia; Dubeau, Francois; Desbiens, Richard; Scheffer, Ingrid E ; Wallace, Robyn H; Mulley, John C; Pandolfo, Massimo |
| 19 | 16-Jun-2004 | Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? | Taylor, Isabella; Marini, Carla; Johnson, Michael R; Turner, Samantha J; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 20 | 1-May-2004 | Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. | Marini, Carla; Scheffer, Ingrid E ; Crossland, Kathryn M; Grinton, Bronwyn E; Phillips, Fiona L; McMahon, Jacinta M; Turner, Samantha J; Dean, Joanne T; Kivity, Sara; Mazarib, Aziz; Neufeld, Miriam Y; Korczyn, Amos D; Harkin, Louise A; Dibbens, Leanne M; Wallace, Robyn H; Mulley, John C; Berkovic, Samuel F |
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