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Results 11-20 of 23 (Search time: 0.002 seconds).
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Issue Date
Title
Author(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.
2012
Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum
Klein, K.
;
O'Brien, T.
;
Praveen, K.
;
Heron, S.
;
Mulley, J.
;
Foote, S.
;
Berkovic, S.
;
Scheffer, I.
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.
2011
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes
Mulley, J.
;
Scheffer, I.
;
Desai, T.
;
Bayly, M.
;
Grinton, B.
;
Vears, D.
;
Berkovic, S.
;
Dibbens, L.
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.
2011
De novo SCN1A mutations in migrating partial seizures of infancy
Carranza Rojo, D.
;
Hamiwka, L.
;
McMahon, J.
;
Dibbens, L.
;
Arsov, T.
;
Suls, A.
;
Stodberg, T.
;
Kelley, K.
;
Wirrell, E.
;
Appleton, B.
;
Mackay, M.
;
Freeman, J.
;
Yendle, S.
;
Berkovic, S.
;
Bienvenu, T.
;
De Jonghe, P.
;
Thorburn, D.
;
Mulley, J.
;
Mefford, H.
;
Scheffer, I.
2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
Milligan, C.
;
Li, M.
;
Gazina, E.
;
Heron, S.
;
Nair, U.
;
Trager, C.
;
Reid, C.
;
Venkat, A.
;
Younkin, D.
;
Dlugos, D.
;
Petrovski, S.
;
Goldstein, D.
;
Dibbens, L.
;
Scheffer, I.
;
Berkovic, S.
;
Petrou, S.
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.
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.
.
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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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