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Results 1-10 of 10 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
2010
Timing of de novo mutagenesis - A twin study of sodium-channel mutations
Vadlamudi, L.
;
Dibbens, L.
;
Lawrence, K.
;
Iona, X.
;
McMahon, J.
;
Murrell, W.
;
Mackay-Sim, A.
;
Scheffer, I.
;
Berkovic, S.
2010
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
McIntosh, A.
;
McMahon, J.
;
Dibbens, L.
;
Iona, X.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
2010
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3
Heron, S.
;
Scheffer, I.
;
Grinton, B.
;
Eyre, H.
;
Oliver, K.
;
Bain, S.
;
Berkovic, S.
;
Mulley, J.
2010
Genetics of the epilepsies: Genetic twists in the channels and other tales
Scheffer, I.
;
Zhang, Y.
;
Gecz, J.
;
Dibbens, L.
2010
Neonatal seizures and Long QT Syndrome: A cardiocerebral channelopathy?
Heron, S.
;
Hernandez, M.
;
Edwards, C.
;
Edkins, E.
;
Jansen, F.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
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.
2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
White, R.
;
Ho, G.
;
Schmidt, S.
;
Scheffer, I.
;
Fischer, A.
;
Yendle, S.
;
Bienvenu, T.
;
Nectoux, J.
;
Ellaway, C.
;
Darmanian, A.
;
Tong, X.
;
Cloosterman, D.
;
Bennetts, B.
;
Kalra, V.
;
Fullston, T.
;
Gecz, J.
;
Cox, T.
;
Christodoulou, J.
2010
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family
Azmanov, D.
;
Zhelyazkova, S.
;
Dimova, P.
;
Radionova, M.
;
Bojinova, V.
;
Florez, L.
;
Smith, S.
;
Tournev, I.
;
Jablensky, A.
;
Mulley, J.
;
Scheffer, I.
;
Kalaydjieva, L.
;
Sander, J.
Discover
Author
7
Berkovic, S.
5
Dibbens, L.
5
Mulley, J.
3
Gecz, J.
3
Heron, S.
3
Iona, X.
3
McMahon, J.
2
Christodoulou, J.
1
Al Raisi, Z.
1
Azmanov, D.
.
next >
Subject
6
Humans
4
Adult
4
Epilepsy
4
Female
4
Mutation
4
NAV1.1 Voltage-Gated Sodium Channel
4
Nerve Tissue Proteins
4
Sodium Channels
3
Child
3
Epilepsies, Myoclonic
.
next >