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Results 1-7 of 7 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
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
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.
1995
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Steinlein, O.
;
Mulley, J.
;
Propping, P.
;
Wallace, R.
;
Phillips, H.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
2008
Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel pore
Hoda, J.
;
Gu, W.
;
Friedli, M.
;
Phillips, H.
;
Bertrand, S.
;
Antonarakis, S.
;
Goudie, D.
;
Roberts, R.
;
Scheffer, I.
;
Marini, C.
;
Patel, J.
;
Berkovic, S.
;
Mulley, J.
;
Steinlein, O.
;
Bertrand, D.
2004
LGI1 mutations in temporal lobe epilepsies
Berkovic, S.
;
Izzillo, P.
;
McMahon, J.
;
Harkin, L.
;
McIntosh, A.
;
Phillips, H.
;
Briellmann, R.
;
Wallace, R.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Scheffer, I.
;
Mulley, J.
Discover
Author
6
Scheffer, I.
5
Phillips, H.
4
Wallace, R.
3
Sutherland, G.
2
Bertrand, D.
2
Dibbens, L.
2
Goudie, D.
2
Harkin, L.
2
Singh, R.
2
Steinlein, O.
.
next >
Subject
7
Humans
6
Pedigree
5
Amino Acid Sequence
5
Molecular Sequence Data
4
Xenopus laevis
3
Base Sequence
3
Epilepsy, Frontal Lobe
3
Genes, Dominant
3
Mutation
3
Oocytes
.
next >
Date issued
5
2000 - 2010
2
1995 - 1999