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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.
2004
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
Berkovic, S.
;
Heron, S.
;
Giordano, L.
;
Marini, C.
;
Guerrini, R.
;
Kaplan, R.
;
Gambardella, A.
;
Steinlein, O.
;
Grinton, B.
;
Dean, J.
;
Bordo, L.
;
Hodgson, B.
;
Yamamoto, T.
;
Mulley, J.
;
Zara, F.
;
Scheffer, I.
2001
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
Phillips, H.
;
Favre, I.
;
Kirkpatrick, M.
;
Zuberi, S.
;
Goudie, D.
;
Heron, S.
;
Scheffer, I.
;
Sutherland, G.
;
Berkovic, S.
;
Bertrand, D.
;
Mulley, J.
2007
eneralized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
Xu, R.
;
Thomas, E.
;
Gazina, E.
;
Richards, K.
;
Quick, M.
;
Wallace, R.
;
Harkin, L.
;
Heron, S.
;
Berkovic, S.
;
Scheffer, I.
;
Mulley, J.
;
Petrou, 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.
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.
Discover
Author
9
Berkovic, S.
9
Mulley, J.
2
Gazina, E.
2
Grinton, B.
2
Petrou, S.
2
Phillips, H.
2
Thomas, E.
2
Xu, R.
1
Andermann, E.
1
Bertrand, D.
.
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Subject
6
Sodium Channels
5
Adult
5
Mutation
5
Nerve Tissue Proteins
4
Adolescent
4
Child
4
DNA Mutational Analysis
4
Female
4
Infant
4
Male
.
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Date issued
5
2007
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2002
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2001