-
1
-
-
0034799972
-
Genetics of the epilepsies
-
Berkovic SF, Scheffer IE. Genetics of the epilepsies. Epilepsia 2001;42(suppl 5):16-23.
-
(2001)
Epilepsia
, vol.42
, Issue.SUPPL. 5
, pp. 16-23
-
-
Berkovic, S.F.1
Scheffer, I.E.2
-
3
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
-
(1995)
Nat Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
4
-
-
0033763090
-
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
-
Fusco MD, Becchetti A, Patrignani A, et al. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-6.
-
(2000)
Nat Genet
, vol.26
, pp. 275-276
-
-
Fusco, M.D.1
Becchetti, A.2
Patrignani, A.3
-
5
-
-
18544376557
-
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
-
Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-41.
-
(2002)
Nat Genet
, vol.30
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
-
6
-
-
0031767813
-
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
-
Scheffer IE, Phillips HA, O'Brien CE, et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998;44:890-9.
-
(1998)
Ann Neurol
, vol.44
, pp. 890-899
-
-
Scheffer, I.E.1
Phillips, H.A.2
O'Brien, C.E.3
-
7
-
-
0033362028
-
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
-
Xiong L, Labuda M, Li D-S, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999;65:1698-710.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1698-1710
-
-
Xiong, L.1
Labuda, M.2
Li, D.-S.3
-
8
-
-
0142104303
-
Familial partial epilepsy with variable foci in a Dutch family: Clinical characteristics and confirmation of linkage to chromosome 22q
-
Callenbach PM, van den Maagdenberg AM, Hottenga JJ, et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 2003;44:1298-305.
-
(2003)
Epilepsia
, vol.44
, pp. 1298-1305
-
-
Callenbach, P.M.1
Van Den Maagdenberg, A.M.2
Hottenga, J.J.3
-
9
-
-
0028900303
-
Autosomal dominant nocturnal frontal epilepsy: A distinctive clinical disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder. Brain 1995;118:61-73.
-
(1995)
Brain
, vol.118
, pp. 61-73
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
-
10
-
-
0028860661
-
Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus
-
Lopes-Cendes I, Phillips HA, Scheffer IE, et al. Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus. Epilepsy Res 1995;22:227-33.
-
(1995)
Epilepsy Res
, vol.22
, pp. 227-233
-
-
Lopes-Cendes, I.1
Phillips, H.A.2
Scheffer, I.E.3
-
11
-
-
0032231423
-
Autosomal dominant nocturnal frontal lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
-
Phillips HA, Scheffer IE, Crossland KM, et al. Autosomal dominant nocturnal frontal lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998;63:1108-16.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Crossland, K.M.3
-
12
-
-
0021344005
-
Easy calculations of LOD scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
14
-
-
0042878437
-
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
-
McLellan A, Phillips HA, Rittey C, et al. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 2003;44:613-7.
-
(2003)
Epilepsia
, vol.44
, pp. 613-617
-
-
McLellan, A.1
Phillips, H.A.2
Rittey, C.3
-
15
-
-
17344377862
-
Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families
-
Picard F, Baulac S, Kahane P, et al. Dominant partial epilepsies: a clinical, electrophysiological and genetic study of 19 European families, Brain 2000;123:1247-62.
-
(2000)
Brain
, vol.123
, pp. 1247-1262
-
-
Picard, F.1
Baulac, S.2
Kahane, P.3
-
16
-
-
79960655760
-
The DNA sequence of human chromosome 22
-
Dunham I, Shimizu N, Roe BA, et al. The DNA sequence of human chromosome 22. Nature 1999;402:489-95.
-
(1999)
Nature
, vol.402
, pp. 489-495
-
-
Dunham, I.1
Shimizu, N.2
Roe, B.A.3
|