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Results 1-10 of 14 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2007Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variantsHeron, S.; Khosravani, H.; Varela, D.; Bladen, C.; Williams, T.; Newman, M.; Scheffer, I.; Berkovic, S.; Mulley, J.; Zamponi, G.
1998Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
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.
1995Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2Phillips, H.; Scheffer, I.; Berkovic, S.; Hollway, G.; Sutherland, G.; Mulley, J.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
2010De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal originHeron, S.; Scheffer, I.; Iona, X.; Zuberi, S.; Birch, R.; McMahon, J.; Bruce, C.; Berkovic, S.; Mulley, J.

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