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Results 1-10 of 15 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
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.
2007
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
Heron, S.
;
Khosravani, H.
;
Varela, D.
;
Bladen, C.
;
Williams, T.
;
Newman, M.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
;
Zamponi, G.
1998
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Scheffer, I.
;
Phillips, H.
;
O'Brien, C.
;
Saling, M.
;
Wrennall, J.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
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.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, 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.
2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
Dibbens, 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.
2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Dibbens, 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.
1995
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2
Phillips, H.
;
Scheffer, I.
;
Berkovic, S.
;
Hollway, G.
;
Sutherland, G.
;
Mulley, J.
1995
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Steinlein, O.
;
Mulley, J.
;
Propping, P.
;
Wallace, R.
;
Phillips, H.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
Discover
Author
14
Berkovic, S.
11
Mulley, J.
8
Dibbens, L.
5
Sutherland, G.
5
Wallace, R.
4
Bayly, M.
4
Harkin, L.
4
Heron, S.
4
Phillips, H.
3
Hodgson, B.
.
next >
Subject
14
Humans
13
Female
12
Male
6
Adult
6
Epilepsy, Generalized
5
Amino Acid Sequence
5
Child
5
Genetic Linkage
5
Genetic Predisposition to Disease
5
Mutation
.
next >
Date issued
4
2010 - 2015
8
2000 - 2009
3
1995 - 1999