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PreviewIssue DateTitleAuthor(s)
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.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
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.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
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.
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsField, M.; Scheffer, I.; Gill, D.; Wilson, M.; Christie, L.; Shaw, M.; Gardner, A.; Glubb, G.; Hobson, L.; Corbett, M.; Friend, K.; Willis-Owen, S.; Gecz, J.