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Results 1-10 of 18 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2017Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingHughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
2015Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyDamiano, J.; Mullen, S.; Hildebrand, M.; Bellows, S.; Lawrence, K.; Arsov, T.; Dibbens, L.; Major, H.; Dahl, H.; Mefford, H.; Darbro, B.; Scheffer, I.; Berkovic, S.
2014Genetics of epilepsy: the testimony of twins in the molecular eraVadlamudi, L.; Milne, R.; Lawrence, K.; Heron, S.; Eckhaus, J.; Keay, D.; Connellan, M.; Torn-Broers, Y.; Howell, R.; Mulley, J.; Scheffer, I.; Dibbens, L.; Hopper, J.; Berkovic, 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.
2013PRRT2 mutation in Japanese children with benign infantile epilepsyOkumura, A.; Shimojima, K.; Kubota, T.; Abe, S.; Yamashita, S.; Imai, K.; Okanishi, T.; Enoki, H.; Fukasawa, T.; Tanabe, T.; Dibbens, L.; Shimizu, T.; Yamamoto, T.
2010Augmented currents of an HCN2 variant in patients with febrile seizure syndromesDibbens, L.; Reid, C.; Hodgson, B.; Thomas, E.; Phillips, A.; Gazina, E.; Cromer, B.; Clarke, A.; Barram, T.; Scheffer, I.; Berkovic, S.; Petrou, S.
2013Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndromeMulley, J.; Hodgson, B.; McMahon, J.; Iona, X.; Bellows, S.; Mullen, S.; Farrell, K.; Mackay, M.; Sadleir, L.; Bleasel, A.; Gill, D.; Webster, R.; Wirrell, E.; Harbord, M.; Sisodiya, S.; Andermann, E.; Kivity, S.; Berkovic, S.; Scheffer, I.; Dibbens, L.
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.
2012Rare protein sequence variation in SV2A gene does not affect response to levetiracetamDibbens, L.; Hodgson, B.; Helbig, K.; Oliver, K.; Mulley, J.; Berkovic, S.; Scheffer, I.
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.

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