Search


Current filters:


Start a new search
Add filters:

Use filters to refine the search results.


Results 1-7 of 7 (Search time: 0.002 seconds).
  • previous
  • 1
  • next
Item hits:
PreviewIssue DateTitleAuthor(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.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2010Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective studyMcIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.
2011De novo SCN1A mutations in migrating partial seizures of infancyCarranza Rojo, D.; Hamiwka, L.; McMahon, J.; Dibbens, L.; Arsov, T.; Suls, A.; Stodberg, T.; Kelley, K.; Wirrell, E.; Appleton, B.; Mackay, M.; Freeman, J.; Yendle, S.; Berkovic, S.; Bienvenu, T.; De Jonghe, P.; Thorburn, D.; Mulley, J.; Mefford, H.; Scheffer, I.
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.