-
1
-
-
0035030766
-
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene
-
Baulac S., Huberfeld G., Gourfinkel-An I., Mitropoulou G., Beranger A., Prud'homme J.F., Baulac M., Brice A., Bruzzone R., LeGuern E. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat. Genet. 28(1):2001;46-48
-
(2001)
Nat. Genet.
, vol.28
, Issue.1
, pp. 46-48
-
-
Baulac, S.1
Huberfeld, G.2
Gourfinkel-An, I.3
Mitropoulou, G.4
Beranger, A.5
Prud'Homme, J.F.6
Baulac, M.7
Brice, A.8
Bruzzone, R.9
Leguern, E.10
-
2
-
-
0034615157
-
Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase
-
Buono R.J., Ferraro T.N., O'Connor M.J., Sperling M.R., Abbey M., Finnanger E., Lohoff F., Mulholland N., Berrettini W.H. Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase. Am. J. Med. Genet. 96(1):2000;79-83
-
(2000)
Am. J. Med. Genet.
, vol.96
, Issue.1
, pp. 79-83
-
-
Buono, R.J.1
Ferraro, T.N.2
O'Connor, M.J.3
Sperling, M.R.4
Abbey, M.5
Finnanger, E.6
Lohoff, F.7
Mulholland, N.8
Berrettini, W.H.9
-
3
-
-
0034949135
-
Lack of association between an interleukin 1 beta (IL-1B) gene variation and refractory temporal lobe epilepsy
-
Buono R.J., Ferraro T.N., O'Connor M.J., Sperling M.R., Ryan S.G., Scattergood T., Mulholland N., Gilmore J., Lohoff F.W., Berrettini W.H. Lack of association between an interleukin 1 beta (IL-1B) gene variation and refractory temporal lobe epilepsy. Epilepsia. 42(6):2001;782-784
-
(2001)
Epilepsia
, vol.42
, Issue.6
, pp. 782-784
-
-
Buono, R.J.1
Ferraro, T.N.2
O'Connor, M.J.3
Sperling, M.R.4
Ryan, S.G.5
Scattergood, T.6
Mulholland, N.7
Gilmore, J.8
Lohoff, F.W.9
Berrettini, W.H.10
-
4
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 18(1):1998;53-55
-
(1998)
Nat. Genet.
, vol.18
, Issue.1
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
Lewis, T.B.4
Reus, B.E.5
Leach, R.J.6
Leppert, M.7
-
5
-
-
0036891055
-
Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes
-
Chioza B., Osei-Lah A., Wilkie H., Nashef L., McCormick D., Asherson P., Makoff A.J. Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy Res. 52(2):2002;107-116
-
(2002)
Epilepsy Res.
, vol.52
, Issue.2
, pp. 107-116
-
-
Chioza, B.1
Osei-Lah, A.2
Wilkie, H.3
Nashef, L.4
McCormick, D.5
Asherson, P.6
Makoff, A.J.7
-
6
-
-
0033763090
-
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco M., Becchetti A., Patrignani A., Annesi G., Gambardella A., Quattrone A., Ballabio A., Wanke E., Casari G. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat. Genet. 26(3):2000;275-276
-
(2000)
Nat. Genet.
, vol.26
, Issue.3
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
Annesi, G.4
Gambardella, A.5
Quattrone, A.6
Ballabio, A.7
Wanke, E.8
Casari, G.9
-
7
-
-
0031713334
-
Classifications of the International League Against Epilepsy: Time for reappraisal
-
Engel J. Jr. Classifications of the International League Against Epilepsy: time for reappraisal. Epilepsia. 39(9):1998;1014-1017
-
(1998)
Epilepsia
, vol.39
, Issue.9
, pp. 1014-1017
-
-
Engel Jr., J.1
-
8
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
-
Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68(4):2001;866-873
-
(2001)
Am. J. Hum. Genet.
, vol.68
, Issue.4
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
9
-
-
0031087015
-
Mapping murine loci for seizure response to kainic acid
-
Ferraro T.N., Golden G.T., Smith G.G., Schork N.J., St Jean P., Ballas C., Choi H., Berrettini W.H. Mapping murine loci for seizure response to kainic acid. Mamm. Genome. 8(3):1997;200-208
-
(1997)
Mamm. Genome
, vol.8
, Issue.3
, pp. 200-208
-
-
Ferraro, T.N.1
Golden, G.T.2
Smith, G.G.3
Schork, N.J.4
St Jean, P.5
Ballas, C.6
Choi, H.7
Berrettini, W.H.8
-
10
-
-
0033567071
-
Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice
-
Ferraro T.N., Golden G.T., Smith G.G., St. Jean P., Schork N.J., Mulholland N., Ballas C., Buono R.J., Berrettini W.H. Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice. J. Neurosci. 19(16):1999;6733-6739
-
(1999)
J. Neurosci.
, vol.19
, Issue.16
, pp. 6733-6739
-
-
Ferraro, T.N.1
Golden, G.T.2
Smith, G.G.3
St. Jean, P.4
Schork, N.J.5
Mulholland, N.6
Ballas, C.7
Buono, R.J.8
Berrettini, W.H.9
-
11
-
-
0034964492
-
Quantitative genetic study of maximal electroshock seizure threshold in mice: Evidence for a major seizure susceptibility locus on distal chromosome 1
-
Ferraro T.N., Golden G.T., Smith G.G., Longman R.L., Snyder R.L., DeMuth D., Szpilzak I., Mulholland N., Eng E., Lohoff F.W., Buono R.J., Berrettini W.H. Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1. Genomics. 75(1-3):2001;35-42
-
(2001)
Genomics
, vol.75
, Issue.13
, pp. 35-42
-
-
Ferraro, T.N.1
Golden, G.T.2
Smith, G.G.3
Longman, R.L.4
Snyder, R.L.5
Demuth, D.6
Szpilzak, I.7
Mulholland, N.8
Eng, E.9
Lohoff, F.W.10
Buono, R.J.11
Berrettini, W.H.12
-
12
-
-
11144358248
-
Fine Mapping of a seizure susceptibility locus on mouse chromosome 1: Nomination of Kcnj10 as a causative gene
-
in press
-
Ferraro, T.N., Golden, G.T., Smith, G.G., Martin, J.F., Lohoff, F.W., Gieringer, T.A., Press, D.M., Kratzer, S.O., Zamboni, D., Zhao, H., Berrettini, W.H., Buono, R.J., in press. Fine Mapping of a seizure susceptibility locus on mouse chromosome 1: nomination of Kcnj10 as a causative gene. Mamm. Genome.
-
Mamm. Genome.
-
-
Ferraro, T.N.1
Golden, G.T.2
Smith, G.G.3
Martin, J.F.4
Lohoff, F.W.5
Gieringer, T.A.6
Press, D.M.7
Kratzer, S.O.8
Zamboni, D.9
Zhao, H.10
Berrettini, W.H.11
Buono, R.J.12
-
13
-
-
0036280187
-
Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (generalized epilepsy with febrile seizures plus)
-
Gerard F., Pereira S., Robaglia-Schlupp A., Genton P., Szepetowski P. Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (generalized epilepsy with febrile seizures plus). Epilepsia. 43(6):2002;581-586
-
(2002)
Epilepsia
, vol.43
, Issue.6
, pp. 581-586
-
-
Gerard, F.1
Pereira, S.2
Robaglia-Schlupp, A.3
Genton, P.4
Szepetowski, P.5
-
14
-
-
0035258546
-
Lowering the extracellular potassium concentration elicits epileptic activity in neocortical tissue of epileptic patients
-
Gorji A., Kohling R., Straub H., Hohling J.M., Madeja M. Lowering the extracellular potassium concentration elicits epileptic activity in neocortical tissue of epileptic patients. Eur. J. Neurosci. 13(3):2001a;639-640
-
(2001)
Eur. J. Neurosci.
, vol.13
, Issue.3
, pp. 639-640
-
-
Gorji, A.1
Kohling, R.2
Straub, H.3
Hohling, J.M.4
Madeja, M.5
-
15
-
-
0035958592
-
Lowering of the potassium concentration induces epileptiform activity in guinea-pig hippocampal slices
-
Gorji A., Madeja M., Straub H., Kohling R., Speckmann E.J. Lowering of the potassium concentration induces epileptiform activity in guinea-pig hippocampal slices. Brain Res. 908(2):2001b;130-139
-
(2001)
Brain Res.
, vol.908
, Issue.2
, pp. 130-139
-
-
Gorji, A.1
Madeja, M.2
Straub, H.3
Kohling, R.4
Speckmann, E.J.5
-
16
-
-
0036155260
-
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
-
Harkin L.A., Bowser D.N., Dibbens L.M., Singh R., Phillips F., Wallace R.H., Richards M.C., Williams D.A., Mulley J.C., Berkovic S.F., Scheffer I.E., Petrou S. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70(2):2002;530-536
-
(2002)
Am. J. Hum. Genet.
, vol.70
, Issue.2
, pp. 530-536
-
-
Harkin, L.A.1
Bowser, D.N.2
Dibbens, L.M.3
Singh, R.4
Phillips, F.5
Wallace, R.H.6
Richards, M.C.7
Williams, D.A.8
Mulley, J.C.9
Berkovic, S.F.10
Scheffer, I.E.11
Petrou, S.12
-
17
-
-
0034548654
-
Interleukin-1beta gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis
-
Heils A., Haug K., Kunz W.S., Fernandez G., Horvath S., Rebstock J., Propping P., Elger C.E. Interleukin-1beta gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis. Ann. Neurol. 48(6):2000;8-50
-
(2000)
Ann. Neurol.
, vol.48
, Issue.6
, pp. 8-50
-
-
Heils, A.1
Haug, K.2
Kunz, W.S.3
Fernandez, G.4
Horvath, S.5
Rebstock, J.6
Propping, P.7
Elger, C.E.8
-
18
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on Classification and Terminology of the International League Against Epilepsy
-
ILAE, 1989. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 30 (4), 389-389.
-
(1989)
Epilepsia
, vol.30
, Issue.4
, pp. 389-389
-
-
-
19
-
-
18544376557
-
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
-
Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Martinelli Boneschi F., Choi C., Morozov P., Das K., Teplitskaya E., Yu A., Cayanis E., Penchaszadeh G., Kottmann A.H., Pedley T.A., Hauser W.A., Ottman R., Gilliam T.C. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nature Genetics. 30(3):2002;335-341
-
(2002)
Nature Genetics
, vol.30
, Issue.3
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
Winawer, M.4
Barker-Cummings, C.5
Martinelli Boneschi, F.6
Choi, C.7
Morozov, P.8
Das, K.9
Teplitskaya, E.10
Yu, A.11
Cayanis, E.12
Penchaszadeh, G.13
Kottmann, A.H.14
Pedley, T.A.15
Hauser, W.A.16
Ottman, R.17
Gilliam, T.C.18
-
20
-
-
0033625146
-
Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy
-
Kanemoto K., Kawasaki J., Miyamoto T., Obayashi H., Nishimura M. Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy. Annals of Neurology. 47(5):2000;571-574
-
(2000)
Annals of Neurology
, vol.47
, Issue.5
, pp. 571-574
-
-
Kanemoto, K.1
Kawasaki, J.2
Miyamoto, T.3
Obayashi, H.4
Nishimura, M.5
-
21
-
-
0035014077
-
Genetic and environmental factors in epilepsy: A population-based study of 11900 Danish twin pairs
-
Kjeldsen M.J., Kyvik K.O., Christensen K., Friis M.L. Genetic and environmental factors in epilepsy: a population-based study of 11900 Danish twin pairs. Epilepsy Res. 44(2-3):2001;167-178
-
(2001)
Epilepsy Res.
, vol.44
, Issue.23
, pp. 167-178
-
-
Kjeldsen, M.J.1
Kyvik, K.O.2
Christensen, K.3
Friis, M.L.4
-
22
-
-
16944365407
-
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
-
Lalioti M.D., Mirotsou M., Buresi C., Peitsch M.C., Rossier C., Ouazzani R., Baldy-Moulinier M., Bottani A., Malafosse A., Antonarakis S.E. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am. J. Hum. Genet. 60(2):1997;342-351
-
(1997)
Am. J. Hum. Genet.
, vol.60
, Issue.2
, pp. 342-351
-
-
Lalioti, M.D.1
Mirotsou, M.2
Buresi, C.3
Peitsch, M.C.4
Rossier, C.5
Ouazzani, R.6
Baldy-Moulinier, M.7
Bottani, A.8
Malafosse, A.9
Antonarakis, S.E.10
-
23
-
-
0028090414
-
Genetic dissection of complex traits
-
Lander E., Schork N. Genetic dissection of complex traits. Science. 265:1994;2037-2048
-
(1994)
Science
, vol.265
, pp. 2037-2048
-
-
Lander, E.1
Schork, N.2
-
24
-
-
0035833926
-
Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family
-
Lerche H., Weber Y.G., Baier H., Jurkat-Rott K., Kraus de Camargo O., Ludolph A.C., Bode H., Lehmann-Horn F. Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. Neurology. 57(7):2001;1191-1198
-
(2001)
Neurology
, vol.57
, Issue.7
, pp. 1191-1198
-
-
Lerche, H.1
Weber, Y.G.2
Baier, H.3
Jurkat-Rott, K.4
Kraus De Camargo, O.5
Ludolph, A.C.6
Bode, H.7
Lehmann-Horn, F.8
-
25
-
-
0032892015
-
Epilepsy and seizure occurrence in a population-based sample of Virginian twins and their families
-
Miller L.L., Pellock J.M., Boggs J.G., DeLorenzo R.J., Meyer J.M., Corey L.A. Epilepsy and seizure occurrence in a population-based sample of Virginian twins and their families. Epilepsy Res. 34(2-3):1999;135-143
-
(1999)
Epilepsy Res.
, vol.34
, Issue.23
, pp. 135-143
-
-
Miller, L.L.1
Pellock, J.M.2
Boggs, J.G.3
Delorenzo, R.J.4
Meyer, J.M.5
Corey, L.A.6
-
26
-
-
17344362307
-
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
-
Minassian B.A., Lee J.R., Herbrick J.A., Huizenga J., Soder S., Mungall A.J., Dunham I., Gardner R., Fong C.Y., Carpenter S., Jardim L., Satishchandra P., Andermann E., Snead O.C., Lopes-Cendes I., Tsui L.C., Delgado-Escueta A.V., Rouleau G.A., Scherer S.W. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat. Genet. 20(2):1998;171-174
-
(1998)
Nat. Genet.
, vol.20
, Issue.2
, pp. 171-174
-
-
Minassian, B.A.1
Lee, J.R.2
Herbrick, J.A.3
Huizenga, J.4
Soder, S.5
Mungall, A.J.6
Dunham, I.7
Gardner, R.8
Fong, C.Y.9
Carpenter, S.10
Jardim, L.11
Satishchandra, P.12
Andermann, E.13
Snead, O.C.14
Lopes-Cendes, I.15
Tsui, L.C.16
Delgado-Escueta, A.V.17
Rouleau, G.A.18
Scherer, S.W.19
-
27
-
-
0037184996
-
Structural basis of inward rectification. Cytoplasmic pore of the G protein-gated inward rectifier GIRK1 at 1.8 a resolution
-
Nishida M., MacKinnon R. Structural basis of inward rectification. Cytoplasmic pore of the G protein-gated inward rectifier GIRK1 at 1.8 A resolution. Cell. 111(7):2002;957-965
-
(2002)
Cell
, vol.111
, Issue.7
, pp. 957-965
-
-
Nishida, M.1
MacKinnon, R.2
-
28
-
-
0031897530
-
Are generalized and localization-related epilepsies genetically distinct?
-
Ottman R., Lee J.H., Hauser W.A., Risch N. Are generalized and localization-related epilepsies genetically distinct? Arch. Neurol. 55:1998;339-344
-
(1998)
Arch. Neurol.
, vol.55
, pp. 339-344
-
-
Ottman, R.1
Lee, J.H.2
Hauser, W.A.3
Risch, N.4
-
29
-
-
0043167789
-
BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy
-
(Epublished 2003 June 25)
-
Pal D.K., Evgrafov O.V., Tabares P., Zhang F., Durner M., Greenberg D.A. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am. J. Hum. Genet. 73(2):2003;261-270. (Epublished 2003 June 25)
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.2
, pp. 261-270
-
-
Pal, D.K.1
Evgrafov, O.V.2
Tabares, P.3
Zhang, F.4
Durner, M.5
Greenberg, D.A.6
-
30
-
-
0032231423
-
Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
-
Phillips H.A., Scheffer I.E., Crossland K.M., Bhatia K.P., Fish D.R., Marsden C.D., Howell S.J., Stephenson J.B., Tolmie J., Plazzi G., Eeg-Olofsson O., Singh R., Lopes-Cendes I., Andermann E., Andermann F., Berkovic S.F., Mulley J.C. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63(4):1998;1108-1116
-
(1998)
Am. J. Hum. Genet.
, vol.63
, Issue.4
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Crossland, K.M.3
Bhatia, K.P.4
Fish, D.R.5
Marsden, C.D.6
Howell, S.J.7
Stephenson, J.B.8
Tolmie, J.9
Plazzi, G.10
Eeg-Olofsson, O.11
Singh, R.12
Lopes-Cendes, I.13
Andermann, E.14
Andermann, F.15
Berkovic, S.F.16
Mulley, J.C.17
-
31
-
-
0028353167
-
DNA markers associated with high versus low IQ: The IQ quantitative trait loci (QTL) project
-
Plomin R., McClearn G.E., Smith D.L., Vignetti S., Chorney M.J., Chorney K., Venditti C.P., Kasarda S., Thompson L.A., Detterman D.K. DNA markers associated with high versus low IQ: the IQ quantitative trait loci (QTL) project. Behav. Genet. 24(2):1994;107-118
-
(1994)
Behav. Genet.
, vol.24
, Issue.2
, pp. 107-118
-
-
Plomin, R.1
McClearn, G.E.2
Smith, D.L.3
Vignetti, S.4
Chorney, M.J.5
Chorney, K.6
Venditti, C.P.7
Kasarda, S.8
Thompson, L.A.9
Detterman, D.K.10
-
32
-
-
0033977369
-
Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy
-
Sander T., Berlin W., Gscheidel N., Wendel B., Janz D., Hoehe M.R. Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy. Epilepsy Res. 39(1):2000;57-61
-
(2000)
Epilepsy Res.
, vol.39
, Issue.1
, pp. 57-61
-
-
Sander, T.1
Berlin, W.2
Gscheidel, N.3
Wendel, B.4
Janz, D.5
Hoehe, M.R.6
-
33
-
-
0344359726
-
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
-
Serratosa J.M., Gomez-Garre P., Gallardo M.E., Anta B., de Bernabe D.B., Lindhout D., Augustijn P.B., Tassinari C.A., Malafosse R.M., Topcu M., Grid D., Dravet C., Berkovic S.F., de Cordoba S.R. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum. Mol. Genet. 8(2):1999;345-352
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.2
, pp. 345-352
-
-
Serratosa, J.M.1
Gomez-Garre, P.2
Gallardo, M.E.3
Anta, B.4
De Bernabe, D.B.5
Lindhout, D.6
Augustijn, P.B.7
Tassinari, C.A.8
Malafosse, R.M.9
Topcu, M.10
Grid, D.11
Dravet, C.12
Berkovic, S.F.13
De Cordoba, S.R.14
-
34
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18(1):1998;25-29
-
(1998)
Nat. Genet.
, vol.18
, Issue.1
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
Dupont, B.R.4
Leach, R.J.5
Melis, R.6
Ronen, G.M.7
Bjerre, I.8
Quattlebaum, T.9
Murphy, J.V.10
McHarg, M.L.11
Gagnon, D.12
Rosales, T.O.13
Peiffer, A.14
Anderson, V.E.15
Leppert, M.16
-
35
-
-
0036107388
-
Ion regulation in the brain: Implications for pathophysiology
-
Somjen G.G. Ion regulation in the brain: implications for pathophysiology. Neuroscientist. 8(3):2002;254-267
-
(2002)
Neuroscientist
, vol.8
, Issue.3
, pp. 254-267
-
-
Somjen, G.G.1
-
36
-
-
0030916583
-
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein O.K., Magnusson A., Stoodt J., Bertrand S., Weiland S., Berkovic S.F., Nakken K.O., Propping P., Bertrand D. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Mol. Genet. 6(6):1997;943-947
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.6
, pp. 943-947
-
-
Steinlein, O.K.1
Magnusson, A.2
Stoodt, J.3
Bertrand, S.4
Weiland, S.5
Berkovic, S.F.6
Nakken, K.O.7
Propping, P.8
Bertrand, D.9
-
37
-
-
0036156977
-
A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy
-
Stogmann E., Zimprich A., Baumgartner C., Aull-Watschinger S., Hollt V., Zimprich F. A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy. Ann. Neurol. 51(2):2002;260-263
-
(2002)
Ann. Neurol.
, vol.51
, Issue.2
, pp. 260-263
-
-
Stogmann, E.1
Zimprich, A.2
Baumgartner, C.3
Aull-Watschinger, S.4
Hollt, V.5
Zimprich, F.6
-
38
-
-
0037032589
-
Association analysis between the human interleukin 1beta (-511) gene polymorphism and susceptibility to febrile convulsions
-
Tilgen N., Pfeiffer H., Cobilanschi J., Rau B., Horvath S., Elger C.E., Propping P., Heils A. Association analysis between the human interleukin 1beta (-511) gene polymorphism and susceptibility to febrile convulsions. Neurosci. Lett. 334(1):2002;68-70
-
(2002)
Neurosci. Lett.
, vol.334
, Issue.1
, pp. 68-70
-
-
Tilgen, N.1
Pfeiffer, H.2
Cobilanschi, J.3
Rau, B.4
Horvath, S.5
Elger, C.E.6
Propping, P.7
Heils, A.8
-
39
-
-
0037310785
-
Prodynorphin gene promoter polymorphism and temporal lobe epilepsy
-
Tilgen N., Rebstock J., Horvath S., Propping P., Elger C.E., Heils A. Prodynorphin gene promoter polymorphism and temporal lobe epilepsy. Ann. Neurol. 53(2):2003;280-281
-
(2003)
Ann. Neurol.
, vol.53
, Issue.2
, pp. 280-281
-
-
Tilgen, N.1
Rebstock, J.2
Horvath, S.3
Propping, P.4
Elger, C.E.5
Heils, A.6
-
40
-
-
0036214453
-
Increased frequency of interleukin-1beta (-511) allele 2 in febrile seizures
-
Virta M., Hurme M., Helminen M. Increased frequency of interleukin-1beta (-511) allele 2 in febrile seizures. Pediat. Neurol. 26(3):2002;192-195
-
(2002)
Pediat. Neurol.
, vol.26
, Issue.3
, pp. 192-195
-
-
Virta, M.1
Hurme, M.2
Helminen, M.3
-
41
-
-
0035033520
-
A receptor γ2 subunit in childhood absence epilepsy and febrile seizures
-
A receptor γ2 subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28:2001a;4952
-
(2001)
Nat. Genet.
, vol.28
, pp. 4952
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
Harkin, L.A.4
Bowser, B.N.5
Panchal, R.G.6
Williams, D.A.7
Sutherland, G.R.8
Mulley, J.C.9
Scheffer, I.E.10
Berkovic, S.F.11
-
42
-
-
0035074294
-
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus
-
Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Sing R., Kremmidiotis G., Gardner A., Sutherland G.R., George A.L. Jr., Mulley J.C., Berkovic S.F. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 68(4):2001;859-865
-
(2001)
Am. J. Hum. Genet.
, vol.68
, Issue.4
, pp. 859-865
-
-
Wallace, R.H.1
Scheffer, I.E.2
Barnett, S.3
Richards, M.4
Dibbens, L.5
Desai, R.R.6
Lerman-Sagie, T.7
Lev, D.8
Mazarib, A.9
Brand, N.10
Ben-Zeev, B.11
Goikhman, I.12
Sing, R.13
Kremmidiotis, G.14
Gardner, A.15
Sutherland, G.R.16
George Jr., A.L.17
Mulley, J.C.18
Berkovic, S.F.19
-
43
-
-
17344367657
-
+-channel beta1 subunit gene SCN1B
-
+-channel beta1 subunit gene SCN1B. Nat. Genet. 19(4):1998;366-370
-
(1998)
Nat. Genet.
, vol.19
, Issue.4
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George Jr., A.L.5
Phillips, H.A.6
Saar, K.7
Reis, A.8
Johnson, E.W.9
Sutherland, G.R.10
Berkovic, S.F.11
Mulley, J.C.12
-
44
-
-
0037055959
-
Association of micro-opioid receptor subunit gene and idiopathic generalized epilepsy
-
Wilkie H., Osei-Lah A., Chioza B., Nashef L., McCormick D., Asherson P., Makoff A.J. Association of micro-opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology. 59(5):2002;724-728
-
(2002)
Neurology
, vol.59
, Issue.5
, pp. 724-728
-
-
Wilkie, H.1
Osei-Lah, A.2
Chioza, B.3
Nashef, L.4
McCormick, D.5
Asherson, P.6
Makoff, A.J.7
-
45
-
-
0037100243
-
Concordance of disease form in kindreds ascertained through affected individuals
-
Winawer M., Ottman R., Rabinowitz D. Concordance of disease form in kindreds ascertained through affected individuals. Statist. Med. 21(13):2002;1887-1897
-
(2002)
Statist. Med.
, vol.21
, Issue.13
, pp. 1887-1897
-
-
Winawer, M.1
Ottman, R.2
Rabinowitz, D.3
|