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Results 1-10 of 12 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2004
Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12
Berkovic, S.
;
Serratosa, J.
;
Phillips, H.
;
Xiong, L.
;
Andermann, E.
;
Diaz-Otero, F.
;
Gomez-Garre, P.
;
Martin, M.
;
Fernandez-Bullido, Y.
;
Andermann, F.
;
Lopes-Cendes, I.
;
Dubeau, F.
;
Desbiens, R.
;
Scheffer, I.
;
Wallace, R.
;
Mulley, J.
;
Pandolfo, M.
2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
Cundy, T.
;
Hegde, M.
;
Naot, D.
;
Chong, B.
;
King, A.
;
Wallace, R.
;
Mulley, J.
;
Love, D.
;
Seidel, J.
;
Fawkner, M.
;
Banovic, T.
;
Callon, K.
;
Grey, A.
;
Reid, I.
;
Middleton-Hardie, C.
;
Cornish, J.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
2002
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [g2(R43Q)] found in human epilepsy
Bowser, D.
;
Wagner, D.
;
Czajkowski, C.
;
Cromer, B.
;
Parker, M.
;
Wallace, R.
;
Harkin, L.
;
Mulley, J.
;
Marini, C.
;
Berkovic, S.
;
Williams, D.
;
Jones, M.
;
Petrou, S.
2007
Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations
Scheffer, I.
;
Harkin, L.
;
Grinton, B.
;
Dibbens, L.
;
Turner, S.
;
Zielinski, M.
;
Xu, R.
;
Jackson, G.
;
Adams, J.
;
Connellan, M.
;
Petrou, S.
;
Wellard, R.
;
Briellmann, R.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2002
Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
Harkin, L.
;
Bowser, D.
;
Dibbens, L.
;
Singh, R.
;
Phillips, F.
;
Wallace, R.
;
Richards, M.
;
Williams, D.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
;
Petrou, S.
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
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.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
Gecz, J.
2001
Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizures
Wallace, R.
;
Marini, C.
;
Petrou, S.
;
Harkin, L.
;
Bowser, D.
;
Panchal, R.
;
Williams, D.
;
Sutherland, G.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
Discover
Author
10
Berkovic, S.
10
Scheffer, I.
6
Harkin, L.
5
Petrou, S.
4
Dibbens, L.
4
Sutherland, G.
3
Bowser, D.
3
Singh, R.
3
Williams, D.
2
Andermann, E.
.
next >
Subject
4
Molecular Sequence Data
4
Mutation
4
Mutation, Missense
3
Adult
3
Animals
3
DNA Mutational Analysis
3
NAV1.1 Voltage-Gated Sodium Channel
3
Nerve Tissue Proteins
3
Protein Subunits
2
Adolescent
.
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