-
1
-
-
84920613670
-
A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?
-
Passamonti, C., Petrelli, C., Mei, D., Foschi, N., Guerrini, R., Provinciali, L. and Zamponi, N. (2015) A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit? Epilepsy Behav., 43, 89-92.
-
(2015)
Epilepsy Behav
, vol.43
, pp. 89-92
-
-
Passamonti, C.1
Petrelli, C.2
Mei, D.3
Foschi, N.4
Guerrini, R.5
Provinciali, L.6
Zamponi, N.7
-
2
-
-
84925386380
-
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy
-
Steinlein, O.K. (2014) Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. Prog. Brain Res., 213, 1-15.
-
(2014)
Prog. Brain Res
, vol.213
, pp. 1-15
-
-
Steinlein, O.K.1
-
3
-
-
77956300047
-
Sodium channel SCN1A and epilepsy: mutations and mechanisms
-
Escayg, A. and Goldin, A.L. (2010) Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia, 51, 1650-1658.
-
(2010)
Epilepsia
, vol.51
, pp. 1650-1658
-
-
Escayg, A.1
Goldin, A.L.2
-
4
-
-
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., et al. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet., 70, 530-536.
-
(2002)
Am. J. Hum. Genet
, vol.70
, 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
-
5
-
-
79959667218
-
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
-
Klassen, T., Davis, C., Goldman, A., Burgess, D., Chen, T., Wheeler, D., McPherson, J., Bourquin, T., Lewis, L., Villasana, D., et al. (2011) Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell, 145, 1036-1048.
-
(2011)
Cell
, vol.145
, pp. 1036-1048
-
-
Klassen, T.1
Davis, C.2
Goldman, A.3
Burgess, D.4
Chen, T.5
Wheeler, D.6
McPherson, J.7
Bourquin, T.8
Lewis, L.9
Villasana, D.10
-
6
-
-
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. and LeGuern, E. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat. Genet., 28, 46-48.
-
(2001)
Nat. Genet
, vol.28
, 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
-
7
-
-
0035033520
-
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace, R.H., Marini, C., Petrou, S., Harkin, L.A., Bowser, D.N., Panchal, R.G., Williams, D.A., Sutherland, G.R., Mulley, J.C., Scheffer, I.E. and Berkovic, S.F. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet., 28, 49-52.
-
(2001)
Nat. Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
Harkin, L.A.4
Bowser, D.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
-
8
-
-
84893137336
-
A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
-
Johnston, A.J., Kang, J.Q., Shen, W., Pickrell, W.O., Cushion, T.D., Davies, J.S., Baer, K., Mullins, J.G., Hammond, C.L., Chung, S.K., et al. (2014) A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiol. Dis., 64, 131-141.
-
(2014)
Neurobiol. Dis
, vol.64
, pp. 131-141
-
-
Johnston, A.J.1
Kang, J.Q.2
Shen, W.3
Pickrell, W.O.4
Cushion, T.D.5
Davies, J.S.6
Baer, K.7
Mullins, J.G.8
Hammond, C.L.9
Chung, S.K.10
-
9
-
-
48549089911
-
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
-
Sun, H., Zhang, Y., Liang, J., Liu, X., Ma, X., Wu, H., Xu, K., Qin, J., Qi, Y. and Wu, X. (2008) SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. J. Hum. Genet., 53, 769-774.
-
(2008)
J. Hum. Genet
, vol.53
, pp. 769-774
-
-
Sun, H.1
Zhang, Y.2
Liang, J.3
Liu, X.4
Ma, X.5
Wu, H.6
Xu, K.7
Qin, J.8
Qi, Y.9
Wu, X.10
-
10
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer, P.A. and Dietz, H.C. (1999) Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet., 8, 1893-1900.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
11
-
-
84869088193
-
Sodium channels and the neurobiology of epilepsy
-
Oliva, M., Berkovic, S.F. and Petrou, S. (2012) Sodium channels and the neurobiology of epilepsy. Epilepsia, 53, 1849-1859.
-
(2012)
Epilepsia
, vol.53
, pp. 1849-1859
-
-
Oliva, M.1
Berkovic, S.F.2
Petrou, S.3
-
12
-
-
33646506899
-
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
-
Berkovic, S.F., Harkin, L., McMahon, J.M., Pelekanos, J.T., Zuberi, S.M., Wirrell, E.C., Gill, D.S., Iona, X., Mulley, J.C. and Scheffer, I.E. (2006) De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol., 5, 488-492.
-
(2006)
Lancet Neurol
, vol.5
, pp. 488-492
-
-
Berkovic, S.F.1
Harkin, L.2
McMahon, J.M.3
Pelekanos, J.T.4
Zuberi, S.M.5
Wirrell, E.C.6
Gill, D.S.7
Iona, X.8
Mulley, J.C.9
Scheffer, I.E.10
-
13
-
-
84930618852
-
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
-
Blanchard, M.G., Willemsen, M.H., Walker, J.B., Dib-Hajj, S.D., Waxman, S.G., Jongmans, M.C., Kleefstra, T., van de Warrenburg, B.P., Praamstra, P., Nicolai, J., et al. (2015) De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J. Med. Genet., 52, 330-337.
-
(2015)
J. Med. Genet
, vol.52
, pp. 330-337
-
-
Blanchard, M.G.1
Willemsen, M.H.2
Walker, J.B.3
Dib-Hajj, S.D.4
Waxman, S.G.5
Jongmans, M.C.6
Kleefstra, T.7
van de Warrenburg, B.P.8
Praamstra, P.9
Nicolai, J.10
-
14
-
-
84895463157
-
Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy
-
Ishii, A., Kanaumi, T., Sohda, M., Misumi, Y., Zhang, B., Kakinuma, N., Haga, Y., Watanabe, K., Takeda, S., Okada, M., et al. (2014) Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy. Epilepsy Res., 108, 420-432.
-
(2014)
Epilepsy Res
, vol.108
, pp. 420-432
-
-
Ishii, A.1
Kanaumi, T.2
Sohda, M.3
Misumi, Y.4
Zhang, B.5
Kakinuma, N.6
Haga, Y.7
Watanabe, K.8
Takeda, S.9
Okada, M.10
-
15
-
-
84930937943
-
De novo loss-or gain-offunction mutations in KCNA2 cause epileptic encephalopathy
-
Syrbe, S., Hedrich, U.B., Riesch, E., Djemie, T., Muller, S., Moller, R.S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H.S., et al. (2015) De novo loss-or gain-offunction mutations in KCNA2 cause epileptic encephalopathy. Nat. Genet., 47, 393-399.
-
(2015)
Nat. Genet
, vol.47
, pp. 393-399
-
-
Syrbe, S.1
Hedrich, U.B.2
Riesch, E.3
Djemie, T.4
Muller, S.5
Moller, R.S.6
Maher, B.7
Hernandez-Hernandez, L.8
Synofzik, M.9
Caglayan, H.S.10
-
16
-
-
84981205711
-
Molecular pathogenic basis for GABRG2 mutations associated with a spectrum of epilepsy syndromes from generalized absence epilepsy to Dravet Syndrome
-
Kang, J.Q. and Macdonald, R.L. (2016). Molecular pathogenic basis for GABRG2 mutations associated with a spectrum of epilepsy syndromes from generalized absence epilepsy to Dravet Syndrome. JAMA Neurol., 73, 1009-1016.
-
(2016)
JAMA Neurol
, vol.73
, pp. 1009-1016
-
-
Kang, J.Q.1
Macdonald, R.L.2
-
17
-
-
84890126688
-
Traffickingdeficient mutant GABRG2 subunit amount may modify epilepsy phenotype
-
Kang, J.Q., Shen, W. and Macdonald, R.L. (2013) Traffickingdeficient mutant GABRG2 subunit amount may modify epilepsy phenotype. Ann. Neurol., 74, 547-559.
-
(2013)
Ann. Neurol
, vol.74
, pp. 547-559
-
-
Kang, J.Q.1
Shen, W.2
Macdonald, R.L.3
-
18
-
-
84876254766
-
Multiple molecular mechanisms for a single GABAA mutation in epilepsy
-
Reid, C.A., Kim, T., Phillips, A.M., Low, J., Berkovic, S.F., Luscher, B. and Petrou, S. (2013) Multiple molecular mechanisms for a single GABAA mutation in epilepsy. Neurology, 80, 1003-1008.
-
(2013)
Neurology
, vol.80
, pp. 1003-1008
-
-
Reid, C.A.1
Kim, T.2
Phillips, A.M.3
Low, J.4
Berkovic, S.F.5
Luscher, B.6
Petrou, S.7
-
19
-
-
63849099710
-
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression
-
Kang, J.Q., Shen, W. and Macdonald, R.L. (2009) The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. J. Neurosci., 29, 2845-2856.
-
(2009)
J. Neurosci
, vol.29
, pp. 2845-2856
-
-
Kang, J.Q.1
Shen, W.2
Macdonald, R.L.3
-
20
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
Yu, F.H., Mantegazza, M., Westenbroek, R.E., Robbins, C.A., Kalume, F., Burton, K.A., Spain, W.J., McKnight, G.S., Scheuer, T. and Catterall, W.A. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat. Neurosci., 9, 1142-1149.
-
(2006)
Nat. Neurosci
, vol.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
Robbins, C.A.4
Kalume, F.5
Burton, K.A.6
Spain, W.J.7
McKnight, G.S.8
Scheuer, T.9
Catterall, W.A.10
-
21
-
-
0029097465
-
Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gammaaminobutyric acid type A receptors
-
Gunther, U., Benson, J., Benke, D., Fritschy, J.M., Reyes, G., Knoflach, F., Crestani, F., Aguzzi, A., Arigoni, M. and Lang, Y. (1995) Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gammaaminobutyric acid type A receptors. Proc. Natl. Acad. Sci. U. S. A, 92, 7749-7753.
-
(1995)
Proc. Natl. Acad. Sci. U. S. A
, vol.92
, pp. 7749-7753
-
-
Gunther, U.1
Benson, J.2
Benke, D.3
Fritschy, J.M.4
Reyes, G.5
Knoflach, F.6
Crestani, F.7
Aguzzi, A.8
Arigoni, M.9
Lang, Y.10
-
22
-
-
77958038097
-
Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy
-
Kang, J.Q., Shen, W., Lee, M., Gallagher, M.J. and Macdonald, R.L. (2010) Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy. J. Neurosci., 30, 13895-13905.
-
(2010)
J. Neurosci
, vol.30
, pp. 13895-13905
-
-
Kang, J.Q.1
Shen, W.2
Lee, M.3
Gallagher, M.J.4
Macdonald, R.L.5
-
23
-
-
84933279150
-
The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
-
Kang, J., Shen, W., Zhou, C., et al. (2015) The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. Nat. Neurosci., 18, 988-996.
-
(2015)
Nat. Neurosci
, vol.18
, pp. 988-996
-
-
Kang, J.1
Shen, W.2
Zhou, C.3
-
24
-
-
0021270695
-
Light and electron microscopic studies of the distribution of microtubule-associated protein 2 in rat brain: a difference between dendritic and axonal cytoskeletons
-
Bernhardt, R. and Matus, A. (1984) Light and electron microscopic studies of the distribution of microtubule-associated protein 2 in rat brain: a difference between dendritic and axonal cytoskeletons. J. Comp Neurol., 226, 203-221.
-
(1984)
J. Comp Neurol
, vol.226
, pp. 203-221
-
-
Bernhardt, R.1
Matus, A.2
-
25
-
-
0034660692
-
Selective alterations in GABAA receptor subtypes in human temporal lobe epilepsy
-
Loup, F., Wieser, H.G., Yonekawa, Y., Aguzzi, A. and Fritschy, J.M. (2000) Selective alterations in GABAA receptor subtypes in human temporal lobe epilepsy. J. Neurosci., 20, 5401-5419.
-
(2000)
J. Neurosci
, vol.20
, pp. 5401-5419
-
-
Loup, F.1
Wieser, H.G.2
Yonekawa, Y.3
Aguzzi, A.4
Fritschy, J.M.5
-
26
-
-
0033237836
-
Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues
-
Crestani, F., Lorez, M., Baer, K., Essrich, C., Benke, D., Laurent, J.P., Belzung, C., Fritschy, J.M., Luscher, B. and Mohler, H. (1999) Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues. Nat. Neurosci., 2, 833-839.
-
(1999)
Nat. Neurosci
, vol.2
, pp. 833-839
-
-
Crestani, F.1
Lorez, M.2
Baer, K.3
Essrich, C.4
Benke, D.5
Laurent, J.P.6
Belzung, C.7
Fritschy, J.M.8
Luscher, B.9
Mohler, H.10
-
27
-
-
84911408654
-
A genetic interaction network model of a complex neurological disease
-
Tyler, A.L., McGarr, T.C., Beyer, B.J., Frankel, W.N. and Carter, G.W. (2014) A genetic interaction network model of a complex neurological disease. Genes Brain Behav., 13, 831-840.
-
(2014)
Genes Brain Behav
, vol.13
, pp. 831-840
-
-
Tyler, A.L.1
McGarr, T.C.2
Beyer, B.J.3
Frankel, W.N.4
Carter, G.W.5
-
28
-
-
84921310841
-
Low brain ascorbic acid increases susceptibility to seizures in mouse models of decreased brain ascorbic acid transport and Alzheimer's disease
-
Warner, T.A., Kang, J.Q., Kennard, J.A. and Harrison, F.E. (2015) Low brain ascorbic acid increases susceptibility to seizures in mouse models of decreased brain ascorbic acid transport and Alzheimer's disease. Epilepsy Res., 110, 20-25.
-
(2015)
Epilepsy Res
, vol.110
, pp. 20-25
-
-
Warner, T.A.1
Kang, J.Q.2
Kennard, J.A.3
Harrison, F.E.4
-
29
-
-
33747155290
-
Severe myoclonic epilepsy in infancy (Dravet syndrome)
-
Dravet, C., Bureau, M., Oguni, H., Fukuyama, Y. and Cokar, O. (2005) Severe myoclonic epilepsy in infancy (Dravet syndrome). Epileptic Syndromes in Infancy, Childhood and Adolescence, 4, 89-113.
-
(2005)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, vol.4
, pp. 89-113
-
-
Dravet, C.1
Bureau, M.2
Oguni, H.3
Fukuyama, Y.4
Cokar, O.5
-
30
-
-
84886247782
-
Improvement of spatial memory function in APPswe/PS1dE9 mice after chronic inhibition of phosphodiesterase type 4D
-
Sierksma, A.S., van den Hove, D.L., Pfau, F., Philippens, M., Bruno, O., Fedele, E., Ricciarelli, R., Steinbusch, H.W., Vanmierlo, T. and Prickaerts, J. (2014) Improvement of spatial memory function in APPswe/PS1dE9 mice after chronic inhibition of phosphodiesterase type 4D. Neuropharmacology, 77, 120-130.
-
(2014)
Neuropharmacology
, vol.77
, pp. 120-130
-
-
Sierksma, A.S.1
van den Hove, D.L.2
Pfau, F.3
Philippens, M.4
Bruno, O.5
Fedele, E.6
Ricciarelli, R.7
Steinbusch, H.W.8
Vanmierlo, T.9
Prickaerts, J.10
-
31
-
-
84893470069
-
Strain-and agedependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice
-
Mistry, A.M., Thompson, C.H., Miller, A.R., Vanoye, C.G., George, A.L Jr., and Kearney, J.A. (2014) Strain-and agedependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice. Neurobiol. Dis., 65, 1-11.
-
(2014)
Neurobiol. Dis
, vol.65
, pp. 1-11
-
-
Mistry, A.M.1
Thompson, C.H.2
Miller, A.R.3
Vanoye, C.G.4
George, A.L.5
Kearney, J.A.6
-
32
-
-
0027261517
-
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
-
Dietz, H.C., McIntosh, I., Sakai, L.Y., Corson, G.M., Chalberg, S.C., Pyeritz, R.E. and Francomano, C.A. (1993) Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics, 17, 468-475.
-
(1993)
Genomics
, vol.17
, pp. 468-475
-
-
Dietz, H.C.1
McIntosh, I.2
Sakai, L.Y.3
Corson, G.M.4
Chalberg, S.C.5
Pyeritz, R.E.6
Francomano, C.A.7
-
33
-
-
12144285746
-
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
-
Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J.D., Mancias, P., Butler, I.J., Wilkinson, M.F., Wegner, M. and Lupski, J.R. (2004) Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat. Genet., 36, 361-369.
-
(2004)
Nat. Genet
, vol.36
, pp. 361-369
-
-
Inoue, K.1
Khajavi, M.2
Ohyama, T.3
Hirabayashi, S.4
Wilson, J.5
Reggin, J.D.6
Mancias, P.7
Butler, I.J.8
Wilkinson, M.F.9
Wegner, M.10
Lupski, J.R.11
-
34
-
-
63849269694
-
Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X
-
Kang, J.Q., Shen, W. and Macdonald, R.L. (2009) Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X. J. Neurosci., 29, 2833-2844.
-
(2009)
J. Neurosci
, vol.29
, pp. 2833-2844
-
-
Kang, J.Q.1
Shen, W.2
Macdonald, R.L.3
-
35
-
-
77956396747
-
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
-
Luciani, A., Villella, V.R., Esposito, S., Brunetti-Pierri, N., Medina, D., Settembre, C., Gavina, M., Pulze, L., Giardino, I., Pettoello-Mantovani, M., et al. (2010) Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nat. Cell Biol., 12, 863-875.
-
(2010)
Nat. Cell Biol
, vol.12
, pp. 863-875
-
-
Luciani, A.1
Villella, V.R.2
Esposito, S.3
Brunetti-Pierri, N.4
Medina, D.5
Settembre, C.6
Gavina, M.7
Pulze, L.8
Giardino, I.9
Pettoello-Mantovani, M.10
-
36
-
-
84873127003
-
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies
-
Macdonald, R.L. and Kang, J.Q. (2012) mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies. Epilepsia, 53 Suppl 9, 59-70.
-
(2012)
Epilepsia
, vol.53
, pp. 59-70
-
-
Macdonald, R.L.1
Kang, J.Q.2
-
37
-
-
0032617093
-
Absence epilepsy: advances in experimental animal models
-
Snead, O.C., III, Depaulis, A., Vergnes, M. and Marescaux, C. (1999) Absence epilepsy: advances in experimental animal models. Adv. Neurol., 79, 253-278.
-
(1999)
Adv. Neurol
, vol.79
, pp. 253-278
-
-
Snead, O.C.1
Depaulis, A.2
Vergnes, M.3
Marescaux, C.4
-
38
-
-
84865002121
-
Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor alpha1 subunit
-
Arain, F.M., Boyd, K.L. and Gallagher, M.J. (2012) Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor alpha1 subunit. Epilepsia, 53, e161-e165.
-
(2012)
Epilepsia
, vol.53
, pp. e161-e165
-
-
Arain, F.M.1
Boyd, K.L.2
Gallagher, M.J.3
-
39
-
-
0035852842
-
A model of atypical absence seizures: EEG, pharmacology, and developmental characterization
-
Cortez, M.A., McKerlie, C. and Snead, O.C. III (2001) A model of atypical absence seizures: EEG, pharmacology, and developmental characterization. Neurology, 56, 341-349.
-
(2001)
Neurology
, vol.56
, pp. 341-349
-
-
Cortez, M.A.1
McKerlie, C.2
Snead, O.C.3
-
40
-
-
33750576365
-
Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings
-
Wolff, M., Casse-Perrot, C. and Dravet, C. (2006) Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia, 47 Suppl 2, 45-48.
-
(2006)
Epilepsia
, vol.47
, pp. 45-48
-
-
Wolff, M.1
Casse-Perrot, C.2
Dravet, C.3
-
41
-
-
84933279150
-
The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
-
Kang, J.Q., Shen, W., Zhou, C., Xu, D. and Macdonald, R.L. (2015) The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. Nat. Neurosci., 18, 988-996.
-
(2015)
Nat. Neurosci
, vol.18
, pp. 988-996
-
-
Kang, J.Q.1
Shen, W.2
Zhou, C.3
Xu, D.4
Macdonald, R.L.5
-
42
-
-
5444253356
-
The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum
-
Kang, J. and Macdonald, R.L. (2004) The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. J. Neurosci., 24, 8672-8677.
-
(2004)
J. Neurosci
, vol.24
, pp. 8672-8677
-
-
Kang, J.1
Macdonald, R.L.2
-
43
-
-
33645642871
-
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies
-
Kang, J.Q., Shen, W. and Macdonald, R.L. (2006) Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. J. Neurosci., 26, 2590-2597.
-
(2006)
J. Neurosci
, vol.26
, pp. 2590-2597
-
-
Kang, J.Q.1
Shen, W.2
Macdonald, R.L.3
-
44
-
-
84880548283
-
Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome
-
Zhou, C., Huang, Z., Ding, L., Deel, M.E., Arain, F.M., Murray, C.R., Patel, R.S., Flanagan, C.D. and Gallagher, M.J. (2013) Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome. J. Biol. Chem., 288, 21458-21472.
-
(2013)
J. Biol. Chem
, vol.288
, pp. 21458-21472
-
-
Zhou, C.1
Huang, Z.2
Ding, L.3
Deel, M.E.4
Arain, F.M.5
Murray, C.R.6
Patel, R.S.7
Flanagan, C.D.8
Gallagher, M.J.9
-
45
-
-
84933279150
-
The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
-
Kang, J.Q., Shen, W., Zhou, C., Xu, D. and Macdonald, R.L. (2015) The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. Nat. Neurosci.
-
(2015)
Nat. Neurosci
-
-
Kang, J.Q.1
Shen, W.2
Zhou, C.3
Xu, D.4
Macdonald, R.L.5
-
46
-
-
84856643478
-
Loss of deacetylation activity of Hdac6 affects emotional behavior in mice
-
Fukada, M., Hanai, A., Nakayama, A., Suzuki, T., Miyata, N., Rodriguiz, R.M., Wetsel, W.C., Yao, T.P. and Kawaguchi, Y. (2012) Loss of deacetylation activity of Hdac6 affects emotional behavior in mice. PLoS. One., 7, e30924.
-
(2012)
PLoS. One
, vol.7
-
-
Fukada, M.1
Hanai, A.2
Nakayama, A.3
Suzuki, T.4
Miyata, N.5
Rodriguiz, R.M.6
Wetsel, W.C.7
Yao, T.P.8
Kawaguchi, Y.9
-
47
-
-
84860999545
-
Haploinsufficiency of the E3 ubiquitin ligase C-terminus of heat shock cognate 70 interacting protein (CHIP) produces specific behavioral impairments
-
McLaughlin, B., Buendia, M.A., Saborido, T.P., Palubinsky, A.M., Stankowski, J.N. and Stanwood, G.D. (2012) Haploinsufficiency of the E3 ubiquitin ligase C-terminus of heat shock cognate 70 interacting protein (CHIP) produces specific behavioral impairments. PLoS. One., 7, e36340.
-
(2012)
PLoS. One
, vol.7
-
-
McLaughlin, B.1
Buendia, M.A.2
Saborido, T.P.3
Palubinsky, A.M.4
Stankowski, J.N.5
Stanwood, G.D.6
-
48
-
-
79951574616
-
Absence of preference for social novelty and increased grooming in integrin beta3 knockout mice: initial studies and future directions
-
Carter, M.D., Shah, C.R., Muller, C.L., Crawley, J.N., Carneiro, A.M. and Veenstra-VanderWeele, J. (2011) Absence of preference for social novelty and increased grooming in integrin beta3 knockout mice: initial studies and future directions. Autism Res., 4, 57-67.
-
(2011)
Autism Res
, vol.4
, pp. 57-67
-
-
Carter, M.D.1
Shah, C.R.2
Muller, C.L.3
Crawley, J.N.4
Carneiro, A.M.5
Veenstra-VanderWeele, J.6
-
49
-
-
77953800799
-
Behavioural phenotyping assays for mouse models of autism
-
Silverman, J.L., Yang, M., Lord, C. and Crawley, J.N. (2010) Behavioural phenotyping assays for mouse models of autism. Nat. Rev. Neurosci., 11, 490-502.
-
(2010)
Nat. Rev. Neurosci
, vol.11
, pp. 490-502
-
-
Silverman, J.L.1
Yang, M.2
Lord, C.3
Crawley, J.N.4
-
50
-
-
84896708850
-
Intravenous ascorbate improves spatial memory in middle-aged APP/PSEN1 and wild type mice
-
Kennard, J.A. and Harrison, F.E. (2014) Intravenous ascorbate improves spatial memory in middle-aged APP/PSEN1 and wild type mice. Behav. Brain Res., 264, 34-42.
-
(2014)
Behav. Brain Res
, vol.264
, pp. 34-42
-
-
Kennard, J.A.1
Harrison, F.E.2
-
51
-
-
33845334169
-
Spatial and nonspatial escape strategies in the Barnes maze
-
Harrison, F.E., Reiserer, R.S., Tomarken, A.J. and McDonald, M.P. (2006) Spatial and nonspatial escape strategies in the Barnes maze. Learn. Mem., 13, 809-819.
-
(2006)
Learn. Mem
, vol.13
, pp. 809-819
-
-
Harrison, F.E.1
Reiserer, R.S.2
Tomarken, A.J.3
McDonald, M.P.4
-
52
-
-
0034833743
-
Learning impairments and motor dysfunctions in adult Lhx5-deficient mice displaying hippocampal disorganization
-
Paylor, R., Zhao, Y., Libbey, M., Westphal, H. and Crawley, J.N. (2001) Learning impairments and motor dysfunctions in adult Lhx5-deficient mice displaying hippocampal disorganization. Physiol Behav., 73, 781-792.
-
(2001)
Physiol Behav
, vol.73
, pp. 781-792
-
-
Paylor, R.1
Zhao, Y.2
Libbey, M.3
Westphal, H.4
Crawley, J.N.5
|