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Results 41-46 of 46 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2002
X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX
Scheffer, I.
;
Wallace, R.
;
Phillips, F.
;
Hewson, P.
;
Reardon, K.
;
Parasivam, G.
;
Stromme, P.
;
Berkovic, S.
;
Gecz, J.
;
Mulley, J.
2004
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy
Tan, N.
;
Heron, S.
;
Scheffer, I.
;
Pelekanos, J.
;
McMahon, J.
;
Vears, D.
;
Mulley, J.
;
Berkovic, S.
2003
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
Wallace, R.
;
Hodgson, B.
;
Grinton, B.
;
Gardiner, R.
;
Robinson, R.
;
Rodriguez-Casero, V.
;
Sadleir, L.
;
Morgan, J.
;
Harkin, L.
;
Dibbens, L.
;
Yamamoto, T.
;
Andermann, E.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2006
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
Mulley, J.
;
Nelson, P.
;
Guerrero, S.
;
Dibbens, L.
;
Iona, X.
;
McMahon, J.
;
Harkin, L.
;
Schouten, J.
;
Yu, S.
;
Berkovic, S.
;
Scheffer, I.
2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
McLellan, A.
;
Phillips, H.
;
Rittey, C.
;
Kirkpatrick, M.
;
Mulley, J.
;
Goudie, D.
;
Stephenson, J.
;
Tolmie, J.
;
Scheffer, I.
;
Berkovic, S.
;
Zuberi, S.
2002
How mutations in the nAChRs can cause ADNFLE epilepsy
Bertrand, D.
;
Picard, F.
;
Le Hellard, S.
;
Weiland, S.
;
Favre, I.
;
Phillips, H.
;
Bertrand, S.
;
Berkovic, S.
;
Malafosse, A.
;
Mulley, J.
Discover
Author
36
Berkovic, S.
33
Scheffer, I.
12
Heron, S.
11
Dibbens, L.
11
Harkin, L.
11
Wallace, R.
10
Petrou, S.
6
Gecz, J.
6
Grinton, B.
6
Phillips, H.
.
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Subject
34
Humans
19
Male
18
Female
15
Mutation
14
Pedigree
14
Sodium Channels
13
Adult
13
Nerve Tissue Proteins
11
DNA Mutational Analysis
10
Child
.
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