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Results 1-10 of 11 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Tarpey, P.
;
Raymond, F.
;
Nguyen, L.
;
Rodriguez, J.
;
Hackett, A.
;
Vandeleur, L.
;
Smith, R.
;
Shoubridge, C.
;
Edkins, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Hills, K.
;
Jones, D.
;
Mironenko, T.
;
Perry, J.
;
et al.
2000
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Phillips, H.
;
Marini, C.
;
Scheffer, I.
;
Sutherland, G.
;
Mulley, J.
;
Berkovic, S.
2004
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV
Ward, T.
;
Valberg, S.
;
Adelson, D.
;
Abbey, C.
;
Binns, M.
;
Mickelson, J.
2001
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
Bell, R.
;
Brice, G.
;
Child, A.
;
Murday, V.
;
Mansour, S.
;
Sandy, C.
;
Collin, J.
;
Brady, A.
;
Callen, D.
;
Burnand, K.
;
Mortimer, P.
;
Jeffery, S.
2006
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
Berkovic, S.
;
Harkin, L.
;
McMahon, J.
;
Pelekanos, J.
;
Zuberi, S.
;
Wirrell, E.
;
Gill, D.
;
Iona, X.
;
Mulley, J.
;
Scheffer, I.
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.
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
SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum
Herlenius, E.
;
Heron, S.
;
Grinton, B.
;
Keay, D.
;
Scheffer, I.
;
Mulley, J.
;
Berkovic, S.
Discover
Author
7
Mulley, J.
6
Berkovic, S.
6
Scheffer, I.
3
Heron, S.
2
Phillips, H.
2
Sutherland, G.
1
Abbey, C.
1
Adelson, D.
1
Andermann, E.
1
Barnett, S.
.
next >
Subject
6
Female
6
Male
6
Pedigree
5
Nerve Tissue Proteins
5
Sodium Channels
4
Adult
4
Molecular Sequence Data
4
Phenotype
4
Reverse Transcriptase Polymerase ...
4
RNA, Messenger
.
next >
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