-
2
-
-
77955132320
-
Neuropathological findings in intractable epilepsy: 435 Chinese cases
-
Piao YS, Lu DH, Chen L, Liu J, Wang W, Liu L, Yu T, Wang YP and Li YJ: Neuropathological findings in intractable epilepsy: 435 Chinese cases. Brain Pathol 20: 902-908, 2010.
-
(2010)
Brain Pathol
, vol.20
, pp. 902-908
-
-
Piao, Y.S.1
Lu, D.H.2
Chen, L.3
Liu, J.4
Wang, W.5
Liu, L.6
Yu, T.7
Wang, Y.P.8
Li, Y.J.9
-
3
-
-
3042762344
-
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
-
Bhalla K, Phillips HA, Crawford J, McKenzie OL, Mulley JC, Eyre H, Gardner AE, Kremmidiotis G and Callen DF: The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. J Hum Genet 49: 308-311, 2004.
-
(2004)
J Hum Genet
, vol.49
, pp. 308-311
-
-
Bhalla, K.1
Phillips, H.A.2
Crawford, J.3
McKenzie, O.L.4
Mulley, J.C.5
Eyre, H.6
Gardner, A.E.7
Kremmidiotis, G.8
Callen, D.F.9
-
4
-
-
84873407345
-
EMINet Consortium and EPICURE Consortium: Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
-
Lal D, Trucks H, Moller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T, EMINet Consortium and EPICURE Consortium: Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 54: 265-271, 2013.
-
(2013)
Epilepsia
, vol.54
, pp. 265-271
-
-
Lal, D.1
Trucks, H.2
Moller, R.S.3
Hjalgrim, H.4
Koeleman, B.P.5
De Kovel, C.G.6
Visscher, F.7
Weber, Y.G.8
Lerche, H.9
Becker, F.10
Schankin, C.J.11
Neubauer, B.A.12
Surges, R.13
Kunz, W.S.14
Zimprich, F.15
Franke, A.16
Illig, T.17
Ried, J.S.18
Leu, C.19
Nürnberg, P.20
Sander, T.21
more..
-
5
-
-
35148885611
-
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
-
Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E and Geschwind DH: Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet 144B: 869-876, 2007.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, pp. 869-876
-
-
Martin, C.L.1
Duvall, J.A.2
Ilkin, Y.3
Simon, J.S.4
Arreaza, M.G.5
Wilkes, K.6
Alvarez-Retuerto, A.7
Whichello, A.8
Powell, C.M.9
Rao, K.10
Cook, E.11
Geschwind, D.H.12
-
6
-
-
79959262465
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
-
Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ and Geschwind DH: Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474: 380-384, 2011.
-
(2011)
Nature
, vol.474
, pp. 380-384
-
-
Voineagu, I.1
Wang, X.2
Johnston, P.3
Lowe, J.K.4
Tian, Y.5
Horvath, S.6
Mill, J.7
Cantor, R.M.8
Blencowe, B.J.9
Geschwind, D.H.10
-
7
-
-
75149194407
-
Autoregulation of Fox protein expression to produce dominant negative splicing factors
-
Damianov A and Black DL: Autoregulation of Fox protein expression to produce dominant negative splicing factors. RNA 16: 405-416, 2010.
-
(2010)
RNA
, vol.16
, pp. 405-416
-
-
Damianov, A.1
Black, D.L.2
-
8
-
-
84866390941
-
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
-
Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G and Geschwind DH: RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet 21: 4171-4186, 2012.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4171-4186
-
-
Fogel, B.L.1
Wexler, E.2
Wahnich, A.3
Friedrich, T.4
Vijayendran, C.5
Gao, F.6
Parikshak, N.7
Konopka, G.8
Geschwind, D.H.9
-
9
-
-
79959726422
-
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
-
Gehman LT, Stoilov P, Maguire J, Damianov A, Lin CH, Shiue L, Ares M Jr, Mody I and Black DL: The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet 43: 706-711, 2011.
-
(2011)
Nat Genet
, vol.43
, pp. 706-711
-
-
Gehman, L.T.1
Stoilov, P.2
Maguire, J.3
Damianov, A.4
Lin, C.H.5
Shiue, L.6
Ares, M.7
Mody, I.8
Black, D.L.9
-
10
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni L, Chew SL and Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285-298, 2002.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
11
-
-
84885746387
-
Aberrant splicing in neurological diseases
-
Feng D and Xie J: Aberrant splicing in neurological diseases. Wiley Interdiscip Rev RNA 4: 631-649, 2013.
-
(2013)
Wiley Interdiscip Rev RNA
, vol.4
, pp. 631-649
-
-
Feng, D.1
Xie, J.2
-
12
-
-
27644455141
-
Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals
-
Underwood JG, Boutz PL, Dougherty JD, Stoilov P and Black DL: Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. Mol Cell Biol 25: 10005-10016, 2005.
-
(2005)
Mol Cell Biol
, vol.25
, pp. 10005-10016
-
-
Underwood, J.G.1
Boutz, P.L.2
Dougherty, J.D.3
Stoilov, P.4
Black, D.L.5
-
13
-
-
30444446153
-
Molecular basis of RNA recognition by the human alternative splicing factor Fox-1
-
Auweter SD, Fasan R, Reymond L, Underwood JG, Black DL, Pitsch S and Allain FH: Molecular basis of RNA recognition by the human alternative splicing factor Fox-1. EMBO J 25: 163-173, 2006.
-
(2006)
EMBO J
, vol.25
, pp. 163-173
-
-
Auweter, S.D.1
Fasan, R.2
Reymond, L.3
Underwood, J.G.4
Black, D.L.5
Pitsch, S.6
Allain, F.H.7
-
14
-
-
79953671609
-
Developmental expression mapping of a gene implicated in multiple neurodevelopmental disorders, A2bp1 (Fox1)
-
Hammock EA and Levitt P: Developmental expression mapping of a gene implicated in multiple neurodevelopmental disorders, A2bp1 (Fox1). Dev Neurosci 33: 64-74, 2011.
-
(2011)
Dev Neurosci
, vol.33
, pp. 64-74
-
-
Hammock, E.A.1
Levitt, P.2
-
15
-
-
79952004742
-
Nickel modulates the electrical activity of cultured cortical neurons through a specific effect on N-methyl-D-aspartate receptor channels
-
Gavazzo P, Tedesco M, Chiappalone M, Zanardi I and Marchetti C: Nickel modulates the electrical activity of cultured cortical neurons through a specific effect on N-methyl-D-aspartate receptor channels. Neuroscience 177: 43-55, 2011.
-
(2011)
Neuroscience
, vol.177
, pp. 43-55
-
-
Gavazzo, P.1
Tedesco, M.2
Chiappalone, M.3
Zanardi, I.4
Marchetti, C.5
-
16
-
-
84871429145
-
Neurotrophic effects of 7,8- dihydroxycoumarin in primary cultured rat cortical neurons
-
Yan L, Zhou X, Zhou X, Zhang Z and Luo HM: Neurotrophic effects of 7,8- dihydroxycoumarin in primary cultured rat cortical neurons. Neurosci Bull 28: 493-498, 2012.
-
(2012)
Neurosci Bull
, vol.28
, pp. 493-498
-
-
Yan, L.1
Zhou, X.2
Zhou, X.3
Zhang, Z.4
Luo, H.M.5
-
17
-
-
4143125488
-
Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions
-
Sasaki S, Shirata A, Yamane K and Iwata M: Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions. Neurology 63: 678-682, 2004.
-
(2004)
Neurology
, vol.63
, pp. 678-682
-
-
Sasaki, S.1
Shirata, A.2
Yamane, K.3
Iwata, M.4
-
18
-
-
33847321509
-
Endocannabinoids block status epilepticus in cultured hippocampal neurons
-
Deshpande LS, Blair RE, Ziobro JM, Sombati S, Martin BR and DeLorenzo RJ: Endocannabinoids block status epilepticus in cultured hippocampal neurons. Eur J Pharmacol 558: 52-59, 2007.
-
(2007)
Eur J Pharmacol
, vol.558
, pp. 52-59
-
-
Deshpande, L.S.1
Blair, R.E.2
Ziobro, J.M.3
Sombati, S.4
Martin, B.R.5
DeLorenzo, R.J.6
-
19
-
-
0035710746
-
Analysis of relative gene expression data using real - time quantitative PCR and the 2(-Delta Delta C(T))Method
-
Livak KJ and Schmittgen TD: Analysis of relative gene expression data using real - time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408, 2001.
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
20
-
-
80053246235
-
Hyperthermia induces epileptiform discharges in cultured rat cortical neurons
-
Wang YY, Qin J, Han Y, Cai J and Xing GG: Hyperthermia induces epileptiform discharges in cultured rat cortical neurons. Brain Res 1417: 87-102, 2011.
-
(2011)
Brain Res
, vol.1417
, pp. 87-102
-
-
Wang, Y.Y.1
Qin, J.2
Han, Y.3
Cai, J.4
Xing, G.G.5
-
21
-
-
79551549635
-
Acetaminophen inhibits status epilepticus in cultured hippocampal neurons
-
Deshpande LS and DeLorenzo RJ: Acetaminophen inhibits status epilepticus in cultured hippocampal neurons. Neuroreport 22: 15-18, 2011.
-
(2011)
Neuroreport
, vol.22
, pp. 15-18
-
-
Deshpande, L.S.1
DeLorenzo, R.J.2
-
22
-
-
78650517693
-
Malformations of cortical development and aberrant cortical networks: Epileptogenesis and functional organization
-
Guerrini R and Barba C: Malformations of cortical development and aberrant cortical networks: epileptogenesis and functional organization. J Clin Neurophysiol 27: 372-379, 2010.
-
(2010)
J Clin Neurophysiol
, vol.27
, pp. 372-379
-
-
Guerrini, R.1
Barba, C.2
-
23
-
-
79952324936
-
Malformations of cortical development: Current concepts and advanced neuroimaging review
-
Andrade CS and Leite Cda C: Malformations of cortical development: current concepts and advanced neuroimaging review. Arq Neuropsiquiatr 69: 130-138, 2011.
-
(2011)
Arq Neuropsiquiatr
, vol.69
, pp. 130-138
-
-
Andrade, C.S.1
Leite Cda, C.2
-
24
-
-
84860662082
-
Malformations of cortical development and epilepsy in adult patients
-
Papayannis CE, Consalvo D, Kauffman MA, Seifer G, Oddo S, D'Alessio L, Saidon P and Kochen S: Malformations of cortical development and epilepsy in adult patients. Seizure 21: 377-384, 2012.
-
(2012)
Seizure
, vol.21
, pp. 377-384
-
-
Papayannis, C.E.1
Consalvo, D.2
Kauffman, M.A.3
Seifer, G.4
Oddo, S.5
D'Alessio, L.6
Saidon, P.7
Kochen, S.8
-
25
-
-
84902540391
-
Malformations of cortical development: Clinical features and genetic causes
-
Guerrini R and Dobyns WB: Malformations of cortical development: clinical features and genetic causes. Lancet Neurol 13: 710-726, 2014.
-
(2014)
Lancet Neurol
, vol.13
, pp. 710-726
-
-
Guerrini, R.1
Dobyns, W.B.2
-
26
-
-
27744500994
-
Subunit arrangement and function in NMDA receptors
-
Furukawa H, Singh SK, Mancusso R and Gouaux E: Subunit arrangement and function in NMDA receptors. Nature 438: 185-192, 2005.
-
(2005)
Nature
, vol.438
, pp. 185-192
-
-
Furukawa, H.1
Singh, S.K.2
Mancusso, R.3
Gouaux, E.4
-
27
-
-
84891531062
-
Trafficking of NMDA receptors during status epilepticus: Therapeutic implications
-
Wasterlain CG, Naylor DE, Liu H, Niquet J and Baldwin R: Trafficking of NMDA receptors during status epilepticus: therapeutic implications. Epilepsia 54 (Suppl 6): 78-80, 2013.
-
(2013)
Epilepsia
, vol.54
, pp. 78-80
-
-
Wasterlain, C.G.1
Naylor, D.E.2
Liu, H.3
Niquet, J.4
Baldwin, R.5
-
28
-
-
84055182970
-
Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy
-
de Moura JC, Tirapelli DP, Neder L, Saggioro FP, Sakamoto AC, Velasco TR, Panepucci RA, Leite JP, Assirati Júnior JA, Colli BO and Carlotti Júnior CG: Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy. Hippocampus 22: 92-97, 2012.
-
(2012)
Hippocampus
, vol.22
, pp. 92-97
-
-
De Moura, J.C.1
Tirapelli, D.P.2
Neder, L.3
Saggioro, F.P.4
Sakamoto, A.C.5
Velasco, T.R.6
Panepucci, R.A.7
Leite, J.P.8
Assirati Júnior, J.A.9
Colli, B.O.10
Carlotti Júnior, C.G.11
-
30
-
-
58149215915
-
Dib - Hajj S, Brennan AR, Hains BC and Waxman SG: Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis
-
Blumenfeld H, Lampert A, Klein JP, Mission J, Chen MC, Rivera M, Dib - Hajj S, Brennan AR, Hains BC and Waxman SG: Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis. Epilepsia 50: 44-55, 2009.
-
(2009)
Epilepsia
, vol.50
, pp. 44-55
-
-
Blumenfeld, H.1
Lampert, A.2
Klein, J.P.3
Mission, J.4
Chen, M.C.5
Rivera, M.6
-
31
-
-
38649083179
-
Action potential generation requires a high sodium channel density in the axon initial segment
-
Kole MH, Ilschner SU, Kampa BM, Williams SR, Ruben PC and Stuart GJ: Action potential generation requires a high sodium channel density in the axon initial segment. Nat Neurosci 11: 178-186, 2008.
-
(2008)
Nat Neurosci
, vol.11
, pp. 178-186
-
-
Kole, M.H.1
Ilschner, S.U.2
Kampa, B.M.3
Williams, S.R.4
Ruben, P.C.5
Stuart, G.J.6
-
32
-
-
33747622293
-
SNAREs- engines for membrane fusion
-
Jahn R and Scheller RH: SNAREs- engines for membrane fusion. Nat Rev Mol Cell Biol 7: 631-643, 2006.
-
(2006)
Nat Rev Mol Cell Biol
, vol.7
, pp. 631-643
-
-
Jahn, R.1
Scheller, R.H.2
-
33
-
-
2642536944
-
Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma
-
Zhang Y, Vilaythong AP, Yoshor D and Noebels JL: Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma. J Neurosci 24: 5239-5248, 2004.
-
(2004)
J Neurosci
, vol.24
, pp. 5239-5248
-
-
Zhang, Y.1
Vilaythong, A.P.2
Yoshor, D.3
Noebels, J.L.4
|