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Results 31-40 of 46 (Search time: 0.002 seconds).
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Issue Date
Title
Author(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
Association studies and functional validation or functional validation alone?
Heron, S.
;
Sanchez, L.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
2007
Channelopathies in idiopathic epilepsy
Heron, S.
;
Scheffer, I.
;
Berkovic, S.
;
Dibbens, L.
;
Mulley, J.
2007
Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?
Taylor, I.
;
Hodgson, B.
;
Scheffer, I.
;
Mulley, J.
;
Berkovic, S.
;
Dibbens, L.
2005
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?
Tan, N.
;
Heron, S.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
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.
2007
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy
Cavalleri, G.
;
Walley, N.
;
Soranzo, N.
;
Mulley, J.
;
Doherty, C.
;
Kapoor, A.
;
Depondt, C.
;
Lynch, J.
;
Scheffer, I.
;
Heils, A.
;
Gehrmann, A.
;
Kinirons, P.
;
Gandhi, S.
;
Satishchandra, P.
;
Wood, N.
;
Anand, A.
;
Sander, T.
;
Berkovic, S.
;
Delanty, N.
;
Goldstein, D.
;
et al.
2006
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
Jansen, F.
;
Sadleir, L.
;
Harkin, L.
;
Vadlamudi, L.
;
McMahon, J.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
2004
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
Richards, M.
;
Heron, S.
;
Spendlove, H.
;
Scheffer, I.
;
Grinton, B.
;
Berkovic, S.
;
Mulley, J.
;
Davy, A.
2007
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures
Heron, S.
;
Cox, K.
;
Grinton, B.
;
Zuberi, S.
;
Kivity, S.
;
Afawi, Z.
;
Straussberg, R.
;
Berkovic, S.
;
Scheffer, I.
;
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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