-
1
-
-
14944384270
-
Genetics of idiopathic epilepsies
-
DOI 10.1111/j.0013-9580.2005.461011.x
-
Hirose S, Mitsudome A, Okada M, Kaneko S, Epilepsy Genetic Study Group J (2005) Genetics of idiopathic epilepsies. Epilepsia 46 Suppl 1: 38-43. (Pubitemid 40365626)
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL. 1
, pp. 38-43
-
-
Hirose, S.1
Mitsudome, A.2
Okada, M.3
Kaneko, S.4
-
2
-
-
0036768621
-
Genetics of epilepsy: Current status and perspectives
-
DOI 10.1016/S0168-0102(02)00065-2, PII S0168010202000652
-
Kaneko S, Okada M, Iwasa H, Yamakawa K, Hirose S (2002) Genetics of epilepsy: current status and perspectives. Neurosci Res 44: 11-30. (Pubitemid 36158699)
-
(2002)
Neuroscience Research
, vol.44
, Issue.1
, pp. 11-30
-
-
Kaneko, S.1
Okada, M.2
Iwasa, H.3
Yamakawa, K.4
Hirose, S.5
-
3
-
-
0027292974
-
Seizure characteristics in chromosome 20 benign familial neonatal convulsions
-
Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M (1993) Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 43: 1355-1360. (Pubitemid 23213809)
-
(1993)
Neurology
, vol.43
, Issue.7
, pp. 1355-1360
-
-
Ronen, G.M.1
Rosales, T.O.2
Connolly, M.3
Anderson, V.E.4
Leppert, M.5
-
4
-
-
14644396145
-
Benign familial infantile seizures
-
Vigevano F (2005) Benign familial infantile seizures. Brain Dev 27: 172-177.
-
(2005)
Brain Dev
, vol.27
, pp. 172-177
-
-
Vigevano, F.1
-
5
-
-
0038059165
-
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2
-
DOI 10.1016/S0920-1211(03)00037-8
-
Dedek K, Fusco L, Teloy N, Steinlein OK (2003) Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 54: 21-27. (Pubitemid 36556194)
-
(2003)
Epilepsy Research
, vol.54
, Issue.1
, pp. 21-27
-
-
Dedek, K.1
Fusco, L.2
Teloy, N.3
Steinlein, O.K.4
-
6
-
-
3242701298
-
A novel mutation in KCNQ2-associated with BFNC, drug resistant epilepsy, and mental retardation
-
Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, et al. (2004) A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 63: 57-65. (Pubitemid 38943779)
-
(2004)
Neurology
, vol.63
, Issue.1
, pp. 57-65
-
-
Borgatti, R.1
Zucca, C.2
Cavallini, A.3
Ferrario, M.4
Panzeri, C.5
Castaldo, P.6
Soldovieri, M.V.7
Baschirotto, C.8
Bresolin, N.9
Bernardina, B.D.10
Taglialatela, M.11
Bassi, M.T.12
-
7
-
-
84856147573
-
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
-
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, et al. (2012) KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 71: 15-25.
-
(2012)
Ann Neurol
, vol.71
, pp. 15-25
-
-
Weckhuysen, S.1
Mandelstam, S.2
Suls, A.3
Audenaert, D.4
Deconinck, T.5
-
8
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
DOI 10.1038/ng0198-25
-
Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, et al. (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18: 25-29. (Pubitemid 28027874)
-
(1998)
Nature Genetics
, 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
Elving, A.V.15
Leppert, M.16
-
9
-
-
48949120472
-
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization
-
DOI 10.1113/jphysiol.2008.154971
-
Singh NA, Otto JF, Dahle EJ, Pappas C, Leslie JD, et al. (2008) Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol 586: 3405-3423. (Pubitemid 352003874)
-
(2008)
Journal of Physiology
, vol.586
, Issue.14
, pp. 3405-3423
-
-
Singh, N.A.1
Otto, J.F.2
Jill, D.E.3
Pappas, C.4
Leslie, J.D.5
Vilaythong, A.6
Noebels, J.L.7
Steve, W.H.8
Wilcox, K.S.9
Leppert, M.F.10
-
10
-
-
0027440811
-
A novel ES cell line, TT2, with high germline-differentiating potency
-
DOI 10.1006/abio.1993.1458
-
Yagi T, Tokunaga T, Furuta Y, Nada S, Yoshida M, et al. (1993) A novel ES cell line, TT2, with high germline-differentiating potency. Anal Biochem 214: 70-76. (Pubitemid 23300355)
-
(1993)
Analytical Biochemistry
, vol.214
, Issue.1
, pp. 70-76
-
-
Yagi, T.1
Tokunaga, T.2
Furuta, Y.3
Nada, S.4
Yoshida, M.5
Tsukada, T.6
Saga, Y.7
Takeda, N.8
Ikawa, Y.9
Aizawa, S.10
-
11
-
-
4244101396
-
Site-directed integration of the cre gene mediated by Cre recombinase using a combination of mutant lox sites
-
Araki K, Araki M, Yamamura K (2002) Site-directed integration of the cre gene mediated by Cre recombinase using a combination of mutant lox sites. Nucleic Acids Res 30: e103.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Araki, K.1
Araki, M.2
Yamamura, K.3
-
14
-
-
33644518449
-
A spontaneous mutation involving Kcnq2 (Kv7.2) reduces M-current density and spike frequency adaptation in mouse CA1 neurons
-
Otto JF, Yang Y, Frankel WN, White HS, Wilcox KS (2006) A spontaneous mutation involving Kcnq2 (Kv7.2) reduces M-current density and spike frequency adaptation in mouse CA1 neurons. J Neurosci 26: 2053-2059.
-
(2006)
J Neurosci
, vol.26
, pp. 2053-2059
-
-
Otto, J.F.1
Yang, Y.2
Frankel, W.N.3
White, H.S.4
Wilcox, K.S.5
-
15
-
-
77950415459
-
Comparative analysis of right element mutant lox sites on recombination efficiency in embryonic stem cells
-
Araki K, Okada Y, Araki M, Yamamura K (2010) Comparative analysis of right element mutant lox sites on recombination efficiency in embryonic stem cells. BMC Biotechnol 10: 29.
-
(2010)
BMC Biotechnol
, vol.10
, pp. 29
-
-
Araki, K.1
Okada, Y.2
Araki, M.3
Yamamura, K.4
-
16
-
-
0030809406
-
Targeted integration of DNA using mutant lox sites in embryonic stem cells
-
DOI 10.1093/nar/25.4.868
-
Araki K, Araki M, Yamamura K (1997) Targeted integration of DNA using mutant lox sites in embryonic stem cells. Nucleic Acids Res 25: 868-872. (Pubitemid 27299845)
-
(1997)
Nucleic Acids Research
, vol.25
, Issue.4
, pp. 868-872
-
-
Araki, K.1
Araki, M.2
Yamamura, K.-I.3
-
17
-
-
0029954688
-
Flp recombinase promotes site-specific DNA recombination in embryonic stem cells and transgenic mice
-
Dymecki SM (1996) Flp recombinase promotes site-specific DNA recombination in embryonic stem cells and transgenic mice. Proc Natl Acad Sci U S A 93: 6191-6196.
-
(1996)
Proc Natl Acad Sci U S a
, vol.93
, pp. 6191-6196
-
-
Dymecki, S.M.1
-
18
-
-
0022803360
-
Identification of the crossover site during FLP-mediated recombination in the Saccharomyces cerevisiae plasmid 2 microns circle
-
McLeod M, Craft S, Broach JR (1986) Identification of the crossover site during FLP-mediated recombination in the Saccharomyces cerevisiae plasmid 2 microns circle. Mol Cell Biol 6: 3357-3367.
-
(1986)
Mol Cell Biol
, vol.6
, pp. 3357-3367
-
-
McLeod, M.1
Craft, S.2
Broach, J.R.3
-
19
-
-
57349170839
-
Environmental novelty is associated with a selective increase in Fos expression in the output elements of the hippocampal formation and the perirhinal cortex
-
VanElzakker M, Fevurly RD, Breindel T, Spencer RL (2008) Environmental novelty is associated with a selective increase in Fos expression in the output elements of the hippocampal formation and the perirhinal cortex. Learn Mem 15: 899-908.
-
(2008)
Learn Mem
, vol.15
, pp. 899-908
-
-
VanElzakker, M.1
Fevurly, R.D.2
Breindel, T.3
Spencer, R.L.4
-
20
-
-
0024425142
-
The use of c-fos as a metabolic marker in neuronal pathway tracing
-
DOI 10.1016/0165-0270(89)90150-7
-
Dragunow M, Faull R (1989) The use of c-fos as a metabolic marker in neuronal pathway tracing. J Neurosci Methods 29: 261-265. (Pubitemid 19222725)
-
(1989)
Journal of Neuroscience Methods
, vol.29
, Issue.3
, pp. 261-265
-
-
Dragunow, M.1
Faull, R.2
-
21
-
-
0020523314
-
Studies on the properties of P1 site-specific recombination: Evidence for topologically unlinked products following recombination
-
Abremski K, Hoess R, Sternberg N (1983) Studies on the properties of P1 site-specific recombination: evidence for topologically unlinked products following recombination. Cell 32: 1301-1311. (Pubitemid 13033058)
-
(1983)
Cell
, vol.32
, Issue.4
, pp. 1301-1311
-
-
Abremski, K.1
Hoess, R.2
Sternberg, N.3
-
22
-
-
0031717379
-
Inducible gene targeting in mice using the Cre/lox system
-
Sauer B (1998) Inducible gene targeting in mice using the Cre/lox system. Methods 14: 381-392.
-
(1998)
Methods
, vol.14
, pp. 381-392
-
-
Sauer, B.1
-
23
-
-
0023630807
-
Targetted correction of a mutant HPRT gene in mouse embryonic stem cells
-
DOI 10.1038/330576a0
-
Doetschman T, Gregg RG, Maeda N, Hooper ML, Melton DW, et al. (1987) Targetted correction of a mutant HPRT gene in mouse embryonic stem cells. Nature 330: 576-578. (Pubitemid 17164356)
-
(1987)
Nature
, vol.330
, Issue.6148
, pp. 576-578
-
-
Doetschman, T.1
Gregg, R.G.2
Maeda, N.3
Hooper, M.L.4
Melton, D.W.5
Thompson, S.6
Smithies, O.7
-
24
-
-
74249095519
-
CRISPR/Cas, the immune system of bacteria and archaea
-
Horvath P, Barrangou R (2010) CRISPR/Cas, the immune system of bacteria and archaea. Science 327: 167-170.
-
(2010)
Science
, vol.327
, pp. 167-170
-
-
Horvath, P.1
Barrangou, R.2
-
25
-
-
84874628805
-
Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides
-
Wefers B, Meyer M, Ortiz O, Hrabe de Angelis M, Hansen J, et al. (2013) Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides. Proc Natl Acad Sci U S A 110: 3782-3787.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 3782-3787
-
-
Wefers, B.1
Meyer, M.2
Ortiz, O.3
Hrabe De Angelis, M.4
Hansen, J.5
-
26
-
-
84877707375
-
One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering
-
Wang H, Yang H, Shivalila CS, Dawlaty MM, Cheng AW, et al. (2013) One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell 153: 910-918.
-
(2013)
Cell
, vol.153
, pp. 910-918
-
-
Wang, H.1
Yang, H.2
Shivalila, C.S.3
Dawlaty, M.M.4
Cheng, A.W.5
-
27
-
-
84862011229
-
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
-
Blumkin L, Suls A, Deconinck T, De Jonghe P, Linder I, et al. (2012) Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. Eur J Paediatr Neurol 16: 356-360.
-
(2012)
Eur J Paediatr Neurol
, vol.16
, pp. 356-360
-
-
Blumkin, L.1
Suls, A.2
Deconinck, T.3
De Jonghe, P.4
Linder, I.5
-
28
-
-
67649970393
-
Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions
-
Otto JF, Singh NA, Dahle EJ, Leppert MF, Pappas CM, et al. (2009) Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. Epilepsia 50: 1752-1759.
-
(2009)
Epilepsia
, vol.50
, pp. 1752-1759
-
-
Otto, J.F.1
Singh, N.A.2
Dahle, E.J.3
Leppert, M.F.4
Pappas, C.M.5
-
29
-
-
0034126582
-
Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability
-
DOI 10.1046/j.1471-4159.2000.0750028.x
-
Watanabe H, Nagata E, Kosakai A, Nakamura M, Yokoyama M, et al. (2000) Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability. J Neurochem 75: 28-33. (Pubitemid 30418165)
-
(2000)
Journal of Neurochemistry
, vol.75
, Issue.1
, pp. 28-33
-
-
Watanabe, H.1
Nagata, E.2
Kosakai, A.3
Nakamura, M.4
Yokoyama, M.5
Tanaka, K.6
Sasai, H.7
-
30
-
-
0032542232
-
+ channels causes epilepsy
-
DOI 10.1038/25367
-
Schroeder BC, Kubisch C, Stein V, Jentsch TJ (1998) Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K + channels causes epilepsy. Nature 396: 687-690. (Pubitemid 29003948)
-
(1998)
Nature
, vol.396
, Issue.6712
, pp. 687-690
-
-
Schroeder, B.C.1
Kubisch, C.2
Stein, V.3
Jentsch, T.J.4
|