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Issue Date
Title
Author(s)
2005
Susceptibility genes for complex epilepsy
Mulley, J.
;
Scheffer, I.
;
Harkin, L.
;
Berkovic, S.
;
Dibbens, L.
2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Tiller, G.
;
Le Merrer, M.
;
Heuertz, S.
;
Tranebjaerg, L.
;
Chitayat, D.
;
Robertson, S.
;
Glass, I.
;
Savarirayan, R.
;
Cole, W.
;
Rimoin, D.
;
Kousseff, B.
;
Ohashi, H.
;
Zabel, B.
;
Munnich, A.
;
Gecz, J.
;
Mulley, J.
2001
Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
Wallace, R.
;
Scheffer, I.
;
Barnett, S.
;
Richards, M.
;
Dibbens, L.
;
Desai, R.
;
Lerman-Sagie, T.
;
Lev, D.
;
Mazarib, A.
;
Brand, N.
;
Ben-Zeev, B.
;
Goikhman, I.
;
Singh, R.
;
Kremmidiotis, G.
;
Gardner, A.
;
Sutherland, G.
;
George Jr., A.
;
Mulley, J.
;
Berkovic, S.
2006
Human epilepsies: interaction of genetic and acquired factors
Berkovic, S.
;
Mulley, J.
;
Scheffer, I.
;
Petrou, S.
2007
eneralized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
Xu, R.
;
Thomas, E.
;
Gazina, E.
;
Richards, K.
;
Quick, M.
;
Wallace, R.
;
Harkin, L.
;
Heron, S.
;
Berkovic, S.
;
Scheffer, I.
;
Mulley, J.
;
Petrou, S.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
Gecz, J.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
2007
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
Xu, R.
;
Thomas, E.
;
Jenkins, M.
;
Gazina, E.
;
Chiu, C.
;
Heron, S.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
;
Petrou, S.
2007
Association studies and functional validation or functional validation alone?
Heron, S.
;
Sanchez, L.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
Discover
Author
32
Berkovic, S.
30
Scheffer, I.
13
Gedeon, A.
11
Dibbens, L.
11
Gecz, J.
10
Heron, S.
10
Sutherland, G.
9
Harkin, L.
9
Wallace, R.
7
Petrou, S.
.
next >
Subject
36
Male
34
Female
25
Pedigree
20
Mutation
18
X Chromosome
17
Adult
17
Molecular Sequence Data
15
Sodium Channels
14
DNA Mutational Analysis
14
Genetic Linkage
.
next >
Date issued
3
2010 - 2011
34
2000 - 2009
21
1995 - 1999