-
1
-
-
0027407672
-
A community-based prospective incidence study of epileptic seizures in children
-
Sidenvall R, Forsgren L, Blomquist HK, Heijbel J, (1993) A community-based prospective incidence study of epileptic seizures in children. Acta Paediatr 82: 60-65.
-
(1993)
Acta Paediatr
, vol.82
, pp. 60-65
-
-
Sidenvall, R.1
Forsgren, L.2
Blomquist, H.K.3
Heijbel, J.4
-
2
-
-
0030744690
-
Children with focal sharp waves: clinical and genetic aspects
-
Doose H, Brigger-Heuer B, Neubauer B, (1997) Children with focal sharp waves: clinical and genetic aspects. Epilepsia 38: 788-796.
-
(1997)
Epilepsia
, vol.38
, pp. 788-796
-
-
Doose, H.1
Brigger-Heuer, B.2
Neubauer, B.3
-
3
-
-
77950857874
-
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009
-
doi: 10.1111/j.1528-1167.2010.02522.x
-
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, et al. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51: 676-685 doi:10.1111/j.1528-1167.2010.02522.x.
-
(2010)
Epilepsia
, vol.51
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
Buchhalter, J.4
Cross, J.H.5
-
4
-
-
0024536973
-
Genetics of the partial epilepsies: a review
-
Ottman R, (1989) Genetics of the partial epilepsies: a review. Epilepsia 30: 107-111.
-
(1989)
Epilepsia
, vol.30
, pp. 107-111
-
-
Ottman, R.1
-
5
-
-
36949007589
-
Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families
-
doi: 10.1111/j.1528-1167.2007.01221.x
-
Bali B, Kull LL, Strug LJ, Clarke T, Murphy PL, et al. (2007) Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families. Epilepsia 48: 2266-2272 doi:10.1111/j.1528-1167.2007.01221.x.
-
(2007)
Epilepsia
, vol.48
, pp. 2266-2272
-
-
Bali, B.1
Kull, L.L.2
Strug, L.J.3
Clarke, T.4
Murphy, P.L.5
-
6
-
-
84856318183
-
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes
-
doi: 10.1111/j.1528-1167.2011.03368.x
-
Vears DF, Tsai M-H, Sadleir LG, Grinton BE, Lillywhite LM, et al. (2012) Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia 53: 319-324 doi:10.1111/j.1528-1167.2011.03368.x.
-
(2012)
Epilepsia
, vol.53
, pp. 319-324
-
-
Vears, D.F.1
Tsai, M.-H.2
Sadleir, L.G.3
Grinton, B.E.4
Lillywhite, L.M.5
-
7
-
-
0031649494
-
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14
-
Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, et al. (1998) Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 51: 1608-1612.
-
(1998)
Neurology
, vol.51
, pp. 1608-1612
-
-
Neubauer, B.A.1
Fiedler, B.2
Himmelein, B.3
Kämpfer, F.4
Lässker, U.5
-
8
-
-
0033055535
-
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2
-
Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, et al. (1999) Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 45: 344-352.
-
(1999)
Ann Neurol
, vol.45
, pp. 344-352
-
-
Guerrini, R.1
Bonanni, P.2
Nardocci, N.3
Parmeggiani, L.4
Piccirilli, M.5
-
9
-
-
48449092930
-
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes
-
doi: 10.1212/01.wnl.0000317090.92185.ec
-
Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, et al. (2008) KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 71: 177-183 doi:10.1212/01.wnl.0000317090.92185.ec.
-
(2008)
Neurology
, vol.71
, pp. 177-183
-
-
Neubauer, B.A.1
Waldegger, S.2
Heinzinger, J.3
Hahn, A.4
Kurlemann, G.5
-
10
-
-
33645115357
-
SRPX2 mutations in disorders of language cortex and cognition
-
doi: 10.1093/hmg/ddl035
-
Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, et al. (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15: 1195-1207 doi:10.1093/hmg/ddl035.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1195-1207
-
-
Roll, P.1
Rudolf, G.2
Pereira, S.3
Royer, B.4
Scheffer, I.E.5
-
11
-
-
69249246953
-
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
-
doi: 10.1038/ejhg.2008.267
-
Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, et al. (2009) Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet 17: 1171-1181 doi:10.1038/ejhg.2008.267.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1171-1181
-
-
Strug, L.J.1
Clarke, T.2
Chiang, T.3
Chien, M.4
Baskurt, Z.5
-
12
-
-
78049329316
-
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
-
doi: 10.1038/ng.677
-
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, et al. (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42: 1021-1026 doi:10.1038/ng.677.
-
(2010)
Nat Genet
, vol.42
, pp. 1021-1026
-
-
Endele, S.1
Rosenberger, G.2
Geider, K.3
Popp, B.4
Tamer, C.5
-
13
-
-
3042762344
-
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
-
doi: 10.1007/s10038-004-0145-4
-
Bhalla K, Phillips HA, Crawford J, McKenzie OLD, Mulley JC, et al. (2004) 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 doi:10.1007/s10038-004-0145-4.
-
(2004)
J Hum Genet
, vol.49
, pp. 308-311
-
-
Bhalla, K.1
Phillips, H.A.2
Crawford, J.3
McKenzie, O.L.D.4
Mulley, J.C.5
-
14
-
-
35148885611
-
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
-
doi: 10.1002/ajmg.b.30530
-
Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, et al. (2007) Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet 144B: 869-876 doi:10.1002/ajmg.b.30530.
-
(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
-
15
-
-
84655176643
-
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
-
doi: 10.1038/ng.1013
-
Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, et al. (2012) Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet 44: 78-84 doi:10.1038/ng.1013.
-
(2012)
Nat Genet
, vol.44
, pp. 78-84
-
-
Elia, J.1
Glessner, J.T.2
Wang, K.3
Takahashi, N.4
Shtir, C.J.5
-
16
-
-
84862641414
-
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis
-
doi: 10.1002/ajmg.a.35396
-
Davis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, et al. (2012) Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Am J Med Genet A 158A: 1654-1661 doi:10.1002/ajmg.a.35396.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 1654-1661
-
-
Davis, L.K.1
Maltman, N.2
Mosconi, M.W.3
Macmillan, C.4
Schmitt, L.5
-
17
-
-
84873407345
-
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
-
doi: 10.1111/epi.12084
-
Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BPC, et al. (2013) Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 54: 265-271 doi:10.1111/epi.12084.
-
(2013)
Epilepsia
, vol.54
, pp. 265-271
-
-
Lal, D.1
Trucks, H.2
Møller, R.S.3
Hjalgrim, H.4
Koeleman, B.P.C.5
-
18
-
-
83755188047
-
Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A
-
doi: 10.1016/j.mcn.2011.10.005
-
O'Brien JE, Drews VL, Jones JM, Dugas JC, Barres BA, et al. (2012) Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Mol Cell Neurosci 49: 120-126 doi:10.1016/j.mcn.2011.10.005.
-
(2012)
Mol Cell Neurosci
, vol.49
, pp. 120-126
-
-
O'Brien, J.E.1
Drews, V.L.2
Jones, J.M.3
Dugas, J.C.4
Barres, B.A.5
-
19
-
-
84866390941
-
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
-
doi: 10.1093/hmg/dds240
-
Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, et al. (2012) RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. um Mol Genet 21: 4171-4186 doi:10.1093/hmg/dds240.
-
(2012)
Um Mol Genet
, vol.21
, pp. 4171-4186
-
-
Fogel, B.L.1
Wexler, E.2
Wahnich, A.3
Friedrich, T.4
Vijayendran, C.5
-
20
-
-
75149194407
-
Autoregulation of Fox protein expression to produce dominant negative splicing factors
-
doi: 10.1261/rna.1838210
-
Damianov A, Black DL, (2010) Autoregulation of Fox protein expression to produce dominant negative splicing factors. RNA 16: 405-416 doi:10.1261/rna.1838210.
-
(2010)
RNA
, vol.16
, pp. 405-416
-
-
Damianov, A.1
Black, D.L.2
-
21
-
-
79959679062
-
NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2
-
doi: 10.1371/journal.pone.0021585
-
Dredge BK, Jensen KB, (2011) NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2. PLoS ONE 6: e21585 doi:10.1371/journal.pone.0021585.
-
(2011)
PLoS ONE
, vol.6
-
-
Dredge, B.K.1
Jensen, K.B.2
-
22
-
-
0017254888
-
Electrocorticography of waves associated with eye movements in man during wakefulness
-
Calvet AF, Bancaud J, (1976) Electrocorticography of waves associated with eye movements in man during wakefulness. Electroencephalogr Clin Neurophysiol 40: 457-469.
-
(1976)
Electroencephalogr Clin Neurophysiol
, vol.40
, pp. 457-469
-
-
Calvet, A.F.1
Bancaud, J.2
-
23
-
-
0019838318
-
[Acquired aphasia in epileptic children-four cases with electrical infraclinic status epilepticus during sleep (author's transl)]
-
Billard C, Autret A, Laffont F, De Giovanni E, Lucas B, et al. (1981) [Acquired aphasia in epileptic children-four cases with electrical infraclinic status epilepticus during sleep (author's transl)]. Rev Electroencephalogr Neurophysiol Clin 11: 457-467.
-
(1981)
Rev Electroencephalogr Neurophysiol Clin
, vol.11
, pp. 457-467
-
-
Billard, C.1
Autret, A.2
Laffont, F.3
De Giovanni, E.4
Lucas, B.5
-
24
-
-
0026059588
-
Epilepsy with continuous spike-waves during slow sleep and its treatment
-
Yasuhara A, Yoshida H, Hatanaka T, Sugimoto T, Kobayashi Y, et al. (1991) Epilepsy with continuous spike-waves during slow sleep and its treatment. Epilepsia 32: 59-62.
-
(1991)
Epilepsia
, vol.32
, pp. 59-62
-
-
Yasuhara, A.1
Yoshida, H.2
Hatanaka, T.3
Sugimoto, T.4
Kobayashi, Y.5
-
25
-
-
0020080213
-
Atypical benign partial epilepsy of childhood
-
Aicardi J, Chevrie J (1982) Atypical benign partial epilepsy of childhood. Dev Med Child Neurol 24, 281-292.
-
(1982)
Dev Med Child Neurol
, vol.24
, pp. 281-292
-
-
Aicardi, J.1
Chevrie, J.2
-
26
-
-
0035072742
-
Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study. Neuropediatrics
-
Doose H, Hahn A, Neubauer BA, Pistohl J, Stephani U, (2001) Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study. Neuropediatrics. Feb 32(1): 9-13.
-
(2001)
Feb
, vol.32
, Issue.1
, pp. 9-13
-
-
Doose, H.1
Hahn, A.2
Neubauer, B.A.3
Pistohl, J.4
Stephani, U.5
-
27
-
-
0035070122
-
Atypical Benign Partial Epilepsy or "Pseudo-Lennox Syndrome"
-
Hahn A, Pistohl J, Neubauer BA, Stephani U, (2001) Atypical Benign Partial Epilepsy or "Pseudo-Lennox Syndrome". Part I: Symptomatology and Long-Term Prognosis. Neuropediatrics 32: 1-8.
-
(2001)
Neuropediatrics
, vol.32
, pp. 1-8
-
-
Hahn, A.1
Pistohl, J.2
Neubauer, B.A.3
Stephani, U.4
-
28
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
doi: 10.1101/gr.6861907
-
Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674 doi:10.1101/gr.6861907.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
-
29
-
-
84862950521
-
Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2
-
doi: 10.1261/rna.030486.111
-
Sun S, Zhang Z, Fregoso O, Krainer AR, (2012) Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2. RNA 18: 274-283 doi:10.1261/rna.030486.111.
-
(2012)
RNA
, vol.18
, pp. 274-283
-
-
Sun, S.1
Zhang, Z.2
Fregoso, O.3
Krainer, A.R.4
-
30
-
-
17544367787
-
Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities
-
doi: 10.1093/nar/gki338
-
Nakahata S, Kawamoto S, (2005) Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res 33: 2078-2089 doi:10.1093/nar/gki338.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 2078-2089
-
-
Nakahata, S.1
Kawamoto, S.2
-
31
-
-
70349620615
-
An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons
-
doi: 10.1101/gad.1837009
-
Lee J-A, Tang Z-Z, Black DL, (2009) An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons. Genes Dev 23: 2284-2293 doi:10.1101/gad.1837009.
-
(2009)
Genes Dev
, vol.23
, pp. 2284-2293
-
-
Lee, J.-A.1
Tang, Z.-Z.2
Black, D.L.3
-
32
-
-
79953059357
-
Epilepsy and neurodevelopmental disorders of language
-
doi: 10.1097/WCO.0b013e328344634a
-
Pal DK, (2011) Epilepsy and neurodevelopmental disorders of language. Curr Opin Neurol 24: 126-131 doi:10.1097/WCO.0b013e328344634a.
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 126-131
-
-
Pal, D.K.1
-
33
-
-
79959726422
-
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
-
doi 10.1038/ng.841
-
Gehman LT, Stoilov P, Maguire J, Damianov A, Lin C-H, et al. (2011) The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet 43: 706-711 doi:10.1038/ng.841.
-
(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
|