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Results 1-10 of 13 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2003
Channelopathies as a genetic cause of epilepsy
Mulley, J.
;
Scheffer, I.
;
Petrou, S.
;
Berkovic, S.
1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
Phillips, H.
;
Scheffer, I.
;
Crossland, K.
;
Bhatia, K.
;
Fish, D.
;
Marsden, C.
;
Howell, S.
;
Stephenson, J.
;
Tolmie, J.
;
Plazzi, G.
;
Eeg-Olofsson, O.
;
Singh, R.
;
Lopes-Cendes, I.
;
Andermann, E.
;
Berkovic, S.
;
Mulley, J.
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.
2000
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Phillips, H.
;
Marini, C.
;
Scheffer, I.
;
Sutherland, G.
;
Mulley, J.
;
Berkovic, S.
2005
SCN1A mutations and epiliepsy
Mulley, J.
;
Scheffer, I.
;
Petrou, S.
;
Dibbens, L.
;
Berkovic, S.
;
Harkin, L.
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.
2006
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
Berkovic, S.
;
Harkin, L.
;
McMahon, J.
;
Pelekanos, J.
;
Zuberi, S.
;
Wirrell, E.
;
Gill, D.
;
Iona, X.
;
Mulley, J.
;
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.
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.
Discover
Author
2
Crossland, K.
2
Gardner, A.
2
Gazina, E.
2
McMahon, J.
2
Singh, R.
2
Thomas, E.
2
Wallace, R.
2
Xu, R.
2
Zuberi, S.
1
Afawi, Z.
.
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Subject
10
Nerve Tissue Proteins
9
Sodium Channels
8
Female
7
Male
6
DNA Mutational Analysis
6
NAV1.1 Voltage-Gated Sodium Channel
6
Pedigree
5
Adult
5
Molecular Sequence Data
4
Adolescent
.
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Date issued
12
2000 - 2010
1
1998 - 1999