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Issue Date
Title
Author(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.
2010
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Heron, S.
;
Scheffer, I.
;
Iona, X.
;
Zuberi, S.
;
Birch, R.
;
McMahon, J.
;
Bruce, C.
;
Berkovic, S.
;
Mulley, J.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
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Author
4
Scheffer, I.
3
Dibbens, L.
2
Gecz, J.
2
Heron, S.
2
McMahon, J.
2
Mulley, J.
2
Turner, S.
1
Al Raisi, Z.
1
Bayly, M.
1
Birch, R.
.
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Subject
4
Female
3
Child
3
Male
2
Family
2
Sodium Channels
1
Adolescent
1
Amino Acid Sequence
1
Base Sequence
1
Brain
1
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Date issued
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2014
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2004