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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsScheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
2004Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex familiesMarini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
2004GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsiesDibbens, L.; Feng, H.; Richards, M.; Harkin, L.; Hodgson, B.; Scott, D.; Jenkins, M.; Petrou, S.; Sutherland, G.; Scheffer, I.; Berkovic, S.; Mcdonald, R.; Mulley, J.
2009Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceDibbens, L.; Mullen, S.; Helbig, I.; Mefford, H.; Bayly, M.; Bellows, S.; Leu, C.; Trucks, H.; Obermeier, T.; Wittig, M.; Franke, A.; Caglayan, H.; Yapici, Z.; Sander, T.; Eichler, E.; Scheffer, I.; Mulley, J.; Berkovic, S.
2007NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivityDibbens, L.; Ekberg, J.; Taylor, I.; Hodgson, B.; Conroy, S.; Lensink, I.; Kumar, S.; Zielinski, M.; Harkin, L.; Sutherland, G.; Adams, D.; Berkovic, S.; Scheffer, I.; Mulley, J.; Poronnik, P.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.