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Results 1-10 of 23 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2015
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy
Damiano, 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.
2014
Genetics of epilepsy: the testimony of twins in the molecular era
Vadlamudi, 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.
2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, 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.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, 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.
2010
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes
Dibbens, L.
;
Reid, C.
;
Hodgson, B.
;
Thomas, E.
;
Phillips, A.
;
Gazina, E.
;
Cromer, B.
;
Clarke, A.
;
Barram, T.
;
Scheffer, I.
;
Berkovic, S.
;
Petrou, S.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van 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.
2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
Mulley, 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.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, 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.
2012
Rare protein sequence variation in SV2A gene does not affect response to levetiracetam
Dibbens, L.
;
Hodgson, B.
;
Helbig, K.
;
Oliver, K.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Field, 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.
Discover
Author
17
Berkovic, S.
14
Dibbens, L.
12
Mulley, J.
9
Heron, S.
6
Gecz, J.
5
Hodgson, B.
4
Iona, X.
4
McMahon, J.
3
Bayly, M.
3
et al.
.
next >
Subject
9
Humans
7
Child
7
Female
7
Mutation
6
Male
5
Adult
5
Epilepsy
5
Nerve Tissue Proteins
4
NAV1.1 Voltage-Gated Sodium Channel
4
Pedigree
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