|
1
|
Kwan P, Schachter SC and Brodie MJ: Drug-
resistant epilepsy. N Engl J Med. 365:919–926. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
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.PubMed/NCBI
|
|
3
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Lal D, Trucks H, Møller 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 and 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. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Damianov A and Black DL: Autoregulation of
Fox protein expression to produce dominant negative splicing
factors. RNA. 16:405–416. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
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.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Feng D and Xie J: Aberrant splicing in
neurological diseases. Wiley Interdiscip Rev RNA. 4:631–649.
2013.PubMed/NCBI
|
|
12
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
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. View Article : Google Scholar
|
|
14
|
Hammock EA and Levitt P: Developmental
expression mapping of a gene implicated in multiple
neurodevelopmental disorders, A2bp1 (Fox1). Dev Neurosci. 33:64–74.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
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. View Article : Google Scholar
|
|
16
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
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.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
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. View Article : Google Scholar
|
|
19
|
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.
View Article : Google Scholar
|
|
20
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Deshpande LS and DeLorenzo RJ:
Acetaminophen inhibits status epilepticus in cultured hippocampal
neurons. Neuroreport. 22:15–18. 2011. View Article : Google Scholar :
|
|
22
|
Guerrini R and Barba C: Malformations of
cortical development and aberrant cortical networks:
epileptogenesis and functional organization. J Clin Neurophysiol.
27:372–379. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Andrade CS and Leite Cda C: Malformations
of cortical development: current concepts and advanced neuroimaging
review. Arq Neuropsiquiatr. 69:130–138. 2011.PubMed/NCBI
|
|
24
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Guerrini R and Dobyns WB: Malformations of
cortical development: clinical features and genetic causes. Lancet
Neurol. 13:710–726. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Furukawa H, Singh SK, Mancusso R and
Gouaux E: Subunit arrangement and function in NMDA receptors.
Nature. 438:185–192. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
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. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
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. View Article : Google Scholar
|
|
29
|
Dulla CG and Huguenard JR: Who let the
spikes out? . Nat Neurosci. 12:959–960. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
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. View Article : Google Scholar
|
|
31
|
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. View
Article : Google Scholar : PubMed/NCBI
|
|
32
|
Jahn R and Scheller RH: SNAREs- engines
for membrane fusion. Nat Rev Mol Cell Biol. 7:631–643. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
33
|
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. View Article : Google Scholar : PubMed/NCBI
|
