-
1
-
-
84855161388
-
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B
-
Nathwani AC, Tuddenham EG, Rangarajan S et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N. Engl. J. Med. 365(25), 2357-2365 (2011).
-
(2011)
N. Engl. J. Med.
, vol.365
, Issue.25
, pp. 2357-2365
-
-
Nathwani, A.C.1
Tuddenham, E.G.2
Rangarajan, S.3
-
2
-
-
84877614816
-
Current prospects and challenges for epilepsy gene therapy
-
doi:10.1016/j.expneurol.2011.10.003 Epub ahead of print
-
Weinberg MS, McCown TJ. Current prospects and challenges for epilepsy gene therapy. Exp. Neurol. doi:10.1016/j.expneurol.2011.10.003 (2011) (Epub ahead of print).
-
(2011)
Exp. Neurol.
-
-
Weinberg, M.S.1
McCown, T.J.2
-
3
-
-
77951662687
-
High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy
-
Makoff A, Lai T, Barratt C et al. High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy. Epilepsia 51(4), 694-698 (2010).
-
(2010)
Epilepsia
, vol.51
, Issue.4
, pp. 694-698
-
-
Makoff, A.1
Lai, T.2
Barratt, C.3
-
4
-
-
79959667218
-
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
-
Klassen T, Davis C, Goldman A et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 145(7), 1036-1048 (2011).
-
(2011)
Cell
, vol.145
, Issue.7
, pp. 1036-1048
-
-
Klassen, T.1
Davis, C.2
Goldman, A.3
-
5
-
-
67651183610
-
Fine mapping of an epilepsy modifier gene on mouse chromosome 19
-
Bergren SK, Rutter ED, Kearney JA. Fine mapping of an epilepsy modifier gene on mouse chromosome 19. Mamm. Genome 20(6), 359-366 (2009).
-
(2009)
Mamm. Genome
, vol.20
, Issue.6
, pp. 359-366
-
-
Bergren, S.K.1
Rutter, E.D.2
Kearney, J.A.3
-
6
-
-
79955081152
-
Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility
-
Jorge BS, Campbell CM, Miller AR et al. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proc. Natl Acad. Sci. USA 108(13), 5443-5448 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, Issue.13
, pp. 5443-5448
-
-
Jorge, B.S.1
Campbell, C.M.2
Miller, A.R.3
-
7
-
-
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. 30(3), 335-341 (2002).
-
(2002)
Nat. Genet.
, vol.30
, Issue.3
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
-
8
-
-
2942588984
-
Idiopathic partial epilepsy with auditory features (IPEAF): A clinical and genetic study of 53 sporadic cases
-
DOI 10.1093/brain/awh151
-
Bisulli F, Tinuper P, Avoni P et al. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 127(Pt 6), 1343-1352 (2004). (Pubitemid 38745512)
-
(2004)
Brain
, vol.127
, Issue.6
, pp. 1343-1352
-
-
Bisulli, F.1
Tinuper, P.2
Avoni, P.3
Striano, P.4
Striano, S.5
D'Orsi, G.6
Vignatelli, L.7
Bagattin, A.8
Scudellaro, E.9
Florindo, I.10
Nobile, C.11
Tassinari, C.A.12
Baruzzi, A.13
Michelucci, R.14
-
9
-
-
11144357228
-
Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: Nomination of Kcnj10 as a causative gene
-
DOI 10.1007/s00335-003-2270-3
-
Ferraro TN, Golden GT, Smith GG et al. Fine mapping of a seizure susceptibility locus on mouse chromosome 1: nomination of Kcnj10 as a causative gene. Mamm. Genome 15(4), 239-251 (2004). (Pubitemid 38453442)
-
(2004)
Mammalian Genome
, vol.15
, Issue.4
, pp. 239-251
-
-
Ferraro, T.N.1
Golden, G.T.2
Smith, G.G.3
Martin, J.F.4
Lohoff, F.W.5
Gieringer, T.A.6
Zamboni, D.7
Schwebel, C.L.8
Press, D.M.9
Kratzer, S.O.10
Zhao, H.11
Berrettini, W.H.12
Buono, R.J.13
-
10
-
-
34548407468
-
Analysis of a quantitative trait locus for seizure susceptibility in mice using bacterial artificial chromosome-mediated gene transfer
-
DOI 10.1111/j.1528-1167.2007.01126.x
-
Ferraro TN, Golden GT, Dahl JP et al. Analysis of a quantitative trait locus for seizure susceptibility in mice using bacterial artificial chromosome-mediated gene transfer. Epilepsia 48(9), 1667-1677 (2007). (Pubitemid 47352866)
-
(2007)
Epilepsia
, vol.48
, Issue.9
, pp. 1667-1677
-
-
Ferraro, T.N.1
Golden, G.T.2
Dahl, J.P.3
Smith, G.G.4
Schwebel, C.L.5
MacDonald, R.6
Lohoff, F.W.7
Berrettini, W.H.8
Buono, R.J.9
-
11
-
-
11144357909
-
Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility
-
DOI 10.1016/j.eplepsyres.2004.02.003, PII S0920121104000300
-
Buono RJ, Lohoff FW, Sander T et al. Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res. 58(2-3), 175-183 (2004). (Pubitemid 38553953)
-
(2004)
Epilepsy Research
, vol.58
, Issue.2-3
, pp. 175-183
-
-
Buono, R.J.1
Lohoff, F.W.2
Sander, T.3
Sperling, M.R.4
O'Connor, M.J.5
Dlugos, D.J.6
Ryan, S.G.7
Golden, G.T.8
Zhao, H.9
Scattergood, T.M.10
Berrettini, W.H.11
Ferraro, T.N.12
-
12
-
-
17044437090
-
Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy
-
Lenzen KP, Heils A, Lorenz S et al. Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. Epilepsy Res. 63(2-3), 113-118 (2005).
-
(2005)
Epilepsy Res.
, vol.63
, Issue.2-3
, pp. 113-118
-
-
Lenzen, K.P.1
Heils, A.2
Lorenz, S.3
-
13
-
-
72549112818
-
Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy
-
Heuser K, Nagelhus EA, Taubøll E et al. Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. Epilepsy Res. 88(1), 55-64 (2010).
-
(2010)
Epilepsy Res.
, vol.88
, Issue.1
, pp. 55-64
-
-
Heuser, K.1
Nagelhus, E.A.2
Taubøll, E.3
-
14
-
-
65249156553
-
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
-
Scholl UI, Choi M, Liu T et al. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl Acad. Sci. USA 106(14), 5842-5847 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, Issue.14
, pp. 5842-5847
-
-
Scholl, U.I.1
Choi, M.2
Liu, T.3
-
15
-
-
65649112786
-
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
-
Bockenhauer D, Feather S, Stanescu HC et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N. Engl. J. Med. 360(19), 1960-1970 (2009).
-
(2009)
N. Engl. J. Med.
, vol.360
, Issue.19
, pp. 1960-1970
-
-
Bockenhauer, D.1
Feather, S.2
Stanescu, H.C.3
-
16
-
-
7944233055
-
Genetic association studies in epilepsy: "The truth is out there"
-
DOI 10.1111/j.0013-9580.2004.22904.x
-
Tan NC, Mulley JC, Berkovic SF. Genetic association studies in epilepsy: "the truth is out there". Epilepsia 45(11), 1429-1442 (2004). (Pubitemid 39470047)
-
(2004)
Epilepsia
, vol.45
, Issue.11
, pp. 1429-1442
-
-
Tan, N.C.K.1
Mulley, J.C.2
Berkovic, S.F.3
-
17
-
-
84863012719
-
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
-
Guo Y, Baum LW, Sham PC et al. Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum. Mol. Genet. 21(5), 1184-1189 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.21
, Issue.5
, pp. 1184-1189
-
-
Guo, Y.1
Baum, L.W.2
Sham, P.C.3
-
18
-
-
80054124747
-
Hippocampal CA3 transcriptome signature correlates with initial precipitating injury in refractory mesial temporal lobe epilepsy
-
Bando SY, Alegro MC, Amaro E Jr et al. Hippocampal CA3 transcriptome signature correlates with initial precipitating injury in refractory mesial temporal lobe epilepsy. PLoS ONE 6(10), e26268 (2011).
-
(2011)
PLoS ONE
, vol.6
, Issue.10
-
-
Bando, S.Y.1
Alegro, M.C.2
Amaro Jr., E.3
-
19
-
-
84255175953
-
Rare copy number variants are an important cause of epileptic encephalopathies
-
Mefford HC, Yendle SC, Hsu C et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann. Neurol. 70(6), 974-985 (2011).
-
(2011)
Ann. Neurol.
, vol.70
, Issue.6
, pp. 974-985
-
-
Mefford, H.C.1
Yendle, S.C.2
Hsu, C.3
-
20
-
-
82255186531
-
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
-
Chen WJ, Lin Y, Xiong ZQ et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat. Genet. 43(12), 1252-1255 (2011).
-
(2011)
Nat. Genet.
, vol.43
, Issue.12
, pp. 1252-1255
-
-
Chen, W.J.1
Lin, Y.2
Xiong, Z.Q.3
|