메뉴 건너뛰기




Volumn 10, Issue , 2014, Pages 1769-1779

Modulation of the GABAergic pathway for the treatment of fragile X syndrome

Author keywords

Arbaclofen; Autism; Gamma aminobutyric acid (GABA) system; Ganax olone; Targeted treatments

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; ACAMPROSATE; ARBACLOFEN; BASIMGLURANT; BRAIN DERIVED NEUROTROPHIC FACTOR; FRAGILE X MENTAL RETARDATION PROTEIN; G PROTEIN COUPLED RECEPTOR; GABOXADOL; GANAXOLONE; GLUTAMATE RECEPTOR; MAVOGLURANT; METABOTROPIC RECEPTOR; RECEPTOR SUBUNIT; RILUZOLE; TIAGABINE; VIGABATRIN;

EID: 84907221070     PISSN: None     EISSN: 11782021     Source Type: Journal    
DOI: 10.2147/NDT.S42919     Document Type: Review
Times cited : (59)

References (83)
  • 1
    • 33748998205 scopus 로고    scopus 로고
    • Fragile X syndrome and autism at the intersection of genetic and neural networks
    • Belmonte MK, Bourgeron T. Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci. 2006;9(10):1221–1225.
    • (2006) Nat Neurosci , vol.9 , Issue.10 , pp. 1221-1225
    • Belmonte, M.K.1    Bourgeron, T.2
  • 2
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • Bretherick KL, Fluker MR, Robinson W P. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005;117(4):376–382.
    • (2005) Hum Genet , vol.117 , Issue.4 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 3
    • 84880359647 scopus 로고    scopus 로고
    • Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ ataxia syndrome
    • Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ ataxia syndrome. Lancet Neurol. 2013;12(8):786–798.
    • (2013) Lancet Neurol , vol.12 , Issue.8 , pp. 786-798
    • Hagerman, R.1    Hagerman, P.2
  • 4
    • 79951971920 scopus 로고    scopus 로고
    • Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers
    • Bourgeois JA, Seritan AL, Casillas EM, et al. Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry. 2011;72(2):175–182.
    • (2011) J Clin Psychiatry , vol.72 , Issue.2 , pp. 175-182
    • Bourgeois, J.A.1    Seritan, A.L.2    Casillas, E.M.3
  • 5
    • 84866521962 scopus 로고    scopus 로고
    • Immune-mediated disorders among women carriers of fragile X premutation alleles
    • Winarni TI, Chonchaiya W, Sumekar TA, et al. Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A. 2012;158a(10):2473–2481.
    • (2012) Am J Med Genet A , vol.158a , Issue.10 , pp. 2473-2481
    • Winarni, T.I.1    Chonchaiya, W.2    Sumekar, T.A.3
  • 6
    • 84886788479 scopus 로고    scopus 로고
    • Prevalence and risk of migraine headaches in adult fragile X premutation carriers
    • Au J, Akins RS, Berkowitz-Sutherland L, et al. Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clin Genet. 2013;84(6):546–551.
    • (2013) Clin Genet , vol.84 , Issue.6 , pp. 546-551
    • Au, J.1    Akins, R.S.2    Berkowitz-Sutherland, L.3
  • 7
    • 84861225172 scopus 로고    scopus 로고
    • Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Hamlin AA, Sukharev D, Campos L, et al. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A. 2012;158A(6):1304–1309.
    • (2012) Am J Med Genet A , vol.158A , Issue.6 , pp. 1304-1309
    • Hamlin, A.A.1    Sukharev, D.2    Campos, L.3
  • 8
    • 84856604388 scopus 로고    scopus 로고
    • FMR1 and the continuum of primary ovarian insuffciency
    • Sullivan SD, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insuffciency. Semin Reprod Med. 2011;29(04):299–307.
    • (2011) Semin Reprod Med , vol.29 , Issue.4 , pp. 299-307
    • Sullivan, S.D.1    Welt, C.2    Sherman, S.3
  • 9
    • 84874594306 scopus 로고    scopus 로고
    • Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation
    • Conde V, Palomar FJ, Lama MJ, et al. Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation. J Neurophysiol. 2013;109(5):1315–1322.
    • (2013) J Neurophysiol , vol.109 , Issue.5 , pp. 1315-1322
    • Conde, V.1    Palomar, F.J.2    Lama, M.J.3
  • 10
    • 33750283784 scopus 로고    scopus 로고
    • Autism spectrum disorders and attention-defcit/hyperactivity disorder in boys with the fragile X premutation
    • Farzin F, Perry H, Hessl D, et al. Autism spectrum disorders and attention-defcit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr. 2006;27(Suppl 2):S137–S144.
    • (2006) J Dev Behav Pediatr , vol.27 , pp. S137-S144
    • Farzin, F.1    Perry, H.2    Hessl, D.3
  • 11
    • 84907191268 scopus 로고    scopus 로고
    • Fragile X Syndrome
    • Hansen RL, Rogers SJ, editors, Arlington: American Psychiatric Publishing
    • Leigh MJS, Hagerman R., Hessl D. Fragile X Syndrome. In: Hansen RL, Rogers SJ, editors. Autism and Other Neurodevelopmental Disorders. Arlington: American Psychiatric Publishing; 2013:57–76.
    • (2013) Autism and Other Neurodevelopmental Disorders , pp. 57-76
    • Leigh, M.J.S.1    Hagerman, R.2    Hessl, D.3
  • 12
    • 70350519151 scopus 로고    scopus 로고
    • Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    • Coffee B, Keith K, Albizua I, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85(4):503–514.
    • (2009) Am J Hum Genet , vol.85 , Issue.4 , pp. 503-514
    • Coffee, B.1    Keith, K.2    Albizua, I.3
  • 13
    • 0035746538 scopus 로고    scopus 로고
    • FMR1 and the fragile X syndrome: Human genome epidemiology review
    • Crawford DC, Acuña JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med. 2001;3(5): 359–371.
    • (2001) Genet Med , vol.3 , Issue.5 , pp. 359-371
    • Crawford, D.C.1    Acuña, J.M.2    Sherman, S.L.3
  • 15
    • 2542507386 scopus 로고    scopus 로고
    • A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
    • Allen EG, He W, Yadav-Shah M, Sherman SL. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet. 2004;114(5):439–447.
    • (2004) Hum Genet , vol.114 , Issue.5 , pp. 439-447
    • Allen, E.G.1    He, W.2    Yadav-Shah, M.3    Sherman, S.L.4
  • 16
    • 84897370853 scopus 로고    scopus 로고
    • CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size
    • Epub February 11
    • Ludwig AL, Espinal GM, Pretto DI. CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet. Epub February 11, 2014.
    • (2014) Hum Mol Genet
    • Ludwig, A.L.1    Espinal, G.M.2    Pretto, D.I.3
  • 17
    • 84862637069 scopus 로고    scopus 로고
    • The pathophysiology of fragile X (and what it teaches us about synapses)
    • Bhakar AL, Dölen G, Bear M F. The pathophysiology of fragile X (and what it teaches us about synapses). Annu Rev Neurosci. 2012;35: 417–443.
    • (2012) Annu Rev Neurosci , vol.35 , pp. 417-443
    • Bhakar, A.L.1    Dölen, G.2    Bear, M.F.3
  • 18
    • 18044379515 scopus 로고    scopus 로고
    • Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profles in fragile X syndrome
    • Brown V, Jin P, Ceman S, et al. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profles in fragile X syndrome. Cell. 2001;107(4):477–487.
    • (2001) Cell , vol.107 , Issue.4 , pp. 477-487
    • Brown, V.1    Jin, P.2    Ceman, S.3
  • 19
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004;27(7):370-377.
    • (2004) Trends Neurosci , vol.27 , Issue.7 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 20
    • 37249006214 scopus 로고    scopus 로고
    • Advances in behavioral genetics: Mouse models of autism
    • Moy SS, Nadler JJ. Advances in behavioral genetics: mouse models of autism. Mol Psychiatry. 2008;13(1):4-26.
    • (2008) Mol Psychiatry , vol.13 , Issue.1 , pp. 4-26
    • Moy, S.S.1    Nadler, J.J.2
  • 21
    • 0242291090 scopus 로고    scopus 로고
    • Model of autism: Increased ratio of excitation/inhibition in key neural systems
    • Rubenstein J, Merzenich M. Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav. 2003; 2(5):255-267.
    • (2003) Genes Brain Behav , vol.2 , Issue.5 , pp. 255-267
    • Rubenstein, J.1    Merzenich, M.2
  • 22
    • 84870543150 scopus 로고    scopus 로고
    • Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics
    • Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012;122(12): 4314-4322.
    • (2012) J Clin Invest , vol.122 , Issue.12 , pp. 4314-4322
    • Bagni, C.1    Tassone, F.2    Neri, G.3    Hagerman, R.4
  • 23
    • 84879977184 scopus 로고    scopus 로고
    • Mrna and protein expression for novel GABAA receptors 8 and p2 are altered in schizophrenia and mood disorders; relevance to FMRP-mGluR5 signaling pathway
    • Fatemi S, Folsom T, Rooney R, Thuras P. Mrna and protein expression for novel GABAA receptors 8 and p2 are altered in schizophrenia and mood disorders; relevance to FMRP-mGluR5 signaling pathway. Transl Psychiatry. 2013;3(6):e271.
    • (2013) Transl Psychiatry , vol.3 , Issue.6 , pp. e271
    • Fatemi, S.1    Folsom, T.2    Rooney, R.3    Thuras, P.4
  • 25
    • 80052347724 scopus 로고    scopus 로고
    • Targeted treatments for fragile X syndrome
    • Berry-Kravis E, Knox A, Hervey C. Targeted treatments for fragile X syndrome. J Neurodev Disord. 2011;3(3):193-210.
    • (2011) J Neurodev Disord , vol.3 , Issue.3 , pp. 193-210
    • Berry-Kravis, E.1    Knox, A.2    Hervey, C.3
  • 26
    • 77955024111 scopus 로고    scopus 로고
    • GABAB receptor coupling to G-proteins and ion channels
    • Padgett CL, Slesinger PA. GABAB receptor coupling to G-proteins and ion channels. Adv Pharmacol. 2010;58:123-147.
    • (2010) Adv Pharmacol , vol.58 , pp. 123-147
    • Padgett, C.L.1    Slesinger, P.A.2
  • 27
    • 14844323722 scopus 로고    scopus 로고
    • Variations on an inhibitory theme: Phasic and tonic activation of GABA(A) receptors
    • Farrant M, Nusser Z. Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors. Nat Rev Neurosci. 2005;6(3): 215-229.
    • (2005) Nat Rev Neurosci , vol.6 , Issue.3 , pp. 215-229
    • Farrant, M.1    Nusser, Z.2
  • 28
    • 66649086927 scopus 로고    scopus 로고
    • Driving fast-spiking cells induces gamma rhythm and controls sensory responses
    • Cardin JA, Carlén M, Meletis K, et al. Driving fast-spiking cells induces gamma rhythm and controls sensory responses. Nature. 2009; 459(7247):663-667.
    • (2009) Nature , vol.459 , Issue.7247 , pp. 663-667
    • Cardin, J.A.1    Carlén, M.2    Meletis, K.3
  • 29
    • 77954915376 scopus 로고    scopus 로고
    • Fragile X: Leading the way for targeted treatments in autism
    • Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010;7(3): 264–274.
    • (2010) Neurotherapeutics , vol.7 , Issue.3 , pp. 264-274
    • Wang, L.W.1    Berry-Kravis, E.2    Hagerman, R.J.3
  • 30
    • 66649110345 scopus 로고    scopus 로고
    • Parvalbumin neurons and gamma rhythms enhance cortical circuit performance
    • Sohal VS, Zhang F, Yizhar O, Deisseroth K. Parvalbumin neurons and gamma rhythms enhance cortical circuit performance. Nature. 2009;459(7247):698-702.
    • (2009) Nature , vol.459 , Issue.7247 , pp. 698-702
    • Sohal, V.S.1    Zhang, F.2    Yizhar, O.3    Deisseroth, K.4
  • 32
    • 59449085928 scopus 로고    scopus 로고
    • Advances in the treatment of fragile X syndrome
    • Hagerman R., Berry-Kravis E, Kaufmann WE, et al. Advances in the treatment of fragile X syndrome. Pediatrics. 2009;123(1):378-390.
    • (2009) Pediatrics , vol.123 , Issue.1 , pp. 378-390
    • Hagerman, R.1    Berry-Kravis, E.2    Kaufmann, W.E.3
  • 33
    • 77954143021 scopus 로고    scopus 로고
    • Early developmental alterations in GABAergic protein expression in fragile X knockout mice
    • Adusei DC, Pacey LK, Chen D, Hampson DR. Early developmental alterations in GABAergic protein expression in fragile X knockout mice. Neuropharmacology. 2010;59(3):167-171.
    • (2010) Neuropharmacology , vol.59 , Issue.3 , pp. 167-171
    • Adusei, D.C.1    Pacey, L.K.2    Chen, D.3    Hampson, D.R.4
  • 34
    • 70449527577 scopus 로고    scopus 로고
    • Estimating intracellular Ca2+ concentrations and buffering in a dendritic inhibitory hippocampal interneuron
    • Liao CW, Lien C. Estimating intracellular Ca2+ concentrations and buffering in a dendritic inhibitory hippocampal interneuron. Neuroscience. 2009;164(4):1701-1711.
    • (2009) Neuroscience , vol.164 , Issue.4 , pp. 1701-1711
    • Liao, C.W.1    Lien, C.2
  • 35
    • 77954851827 scopus 로고    scopus 로고
    • Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome
    • Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci. 2010;30(29):9929-9938.
    • (2010) J Neurosci , vol.30 , Issue.29 , pp. 9929-9938
    • Olmos-Serrano, J.L.1    Paluszkiewicz, S.M.2    Martin, B.S.3    Kaufmann, W.E.4    Corbin, J.G.5    Huntsman, M.M.6
  • 36
    • 67649427508 scopus 로고    scopus 로고
    • Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome
    • Curia G, Papouin T, Séguéla P, Avoli M. Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb Cortex. 2009;19(7):1515-1520.
    • (2009) Cereb Cortex , vol.19 , Issue.7 , pp. 1515-1520
    • Curia, G.1    Papouin, T.2    Séguéla, P.3    Avoli, M.4
  • 37
    • 58249135425 scopus 로고    scopus 로고
    • Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)
    • D’Hulst C, Heulens I, Brouwer JR, et al. Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Res. 2009;1253:176-183.
    • (2009) Brain Res , vol.1253 , pp. 176-183
    • D’hulst, C.1    Heulens, I.2    Brouwer, J.R.3
  • 38
    • 30744433092 scopus 로고    scopus 로고
    • Expression profling suggests underexpression of the GABAA receptor subunit delta in the fragile X knockout mouse model
    • Gantois I, Vandesompele J, Speleman F, et al. Expression profling suggests underexpression of the GABAA receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis. 2006;21(2):346-357.
    • (2006) Neurobiol Dis , vol.21 , Issue.2 , pp. 346-357
    • Gantois, I.1    Vandesompele, J.2    Speleman, F.3
  • 39
    • 67649834454 scopus 로고    scopus 로고
    • Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile x knockout mice to audiogenic seizures
    • Pacey LKK, Heximer SP, Hampson DR. Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile x knockout mice to audiogenic seizures. Mol Pharmacol. 2009;76(1):18-24.
    • (2009) Mol Pharmacol , vol.76 , Issue.1 , pp. 18-24
    • Pacey, L.K.K.1    Heximer, S.P.2    Hampson, D.R.3
  • 40
    • 84894277862 scopus 로고    scopus 로고
    • Fear-specific amygdala function in children and adolescents on the fragile x spectrum: A dosage response of the FMR1 gene
    • Kim SY, Burris J, Bassal F, et al. Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene. Cereb. Cortex. 2014;24(3):600-613.
    • (2014) Cereb. Cortex , vol.24 , Issue.3 , pp. 600-613
    • Kim, S.Y.1    Burris, J.2    Bassal, F.3
  • 41
    • 53849100522 scopus 로고    scopus 로고
    • Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome
    • Gibson JR, Bartley AF, Hays SA, Huber KM. Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome. J Neurophysiol. 2008;100(5):2615-2626.
    • (2008) J Neurophysiol , vol.100 , Issue.5 , pp. 2615-2626
    • Gibson, J.R.1    Bartley, A.F.2    Hays, S.A.3    Huber, K.M.4
  • 42
    • 84866628742 scopus 로고    scopus 로고
    • Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: A randomized, controlled, phase 2 trial
    • Berry-Kravis E., Hessl D, Rathmell B, et al. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012;4(152):152ra127.
    • (2012) Sci Transl Med , vol.4 , Issue.152 , pp. 152ra127
    • Berry-Kravis, E.1    Hessl, D.2    Rathmell, B.3
  • 43
    • 79952315316 scopus 로고    scopus 로고
    • Open-label riluzole in fragile X syndrome
    • Erickson CA, Weng N, Weiler IJ, et al. Open-label riluzole in fragile X syndrome. Brain Res. 2011;1380:264-270.
    • (2011) Brain Res , vol.1380 , pp. 264-270
    • Erickson, C.A.1    Weng, N.2    Weiler, I.J.3
  • 44
    • 84879238323 scopus 로고    scopus 로고
    • Impact of acamprosate on behavior and brain-derived neurotrophic factor: An open-label study in youth with fragile X syndrome
    • Erickson CA, Wink LA, Ray B, et al. Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome. Psychopharmacology (Berl). 2013; 228(1):75-84.
    • (2013) Psychopharmacology (Berl) , vol.228 , Issue.1 , pp. 75-84
    • Erickson, C.A.1    Wink, L.A.2    Ray, B.3
  • 45
    • 14444270606 scopus 로고    scopus 로고
    • Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3[3-hydroxy-3|5-methyl-5a-pregnan-20-one), a selective, high-affinity, steroid modulator of the y-aminobutyric acidA receptor
    • Carter RB, Wood PL, Wieland S, et al. Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3[3-hydroxy-3|5-methyl-5a-pregnan-20-one), a selective, high-affinity, steroid modulator of the y-aminobutyric acidA receptor. J Pharmacol Exp Ther. 1997;280(3):1284-1295.
    • (1997) J Pharmacol Exp Ther , vol.280 , Issue.3 , pp. 1284-1295
    • Carter, R.B.1    Wood, P.L.2    Wieland, S.3
  • 46
    • 0033759542 scopus 로고    scopus 로고
    • Ganaxolone for treating intractable infantile spasms: A multicenter, open-label, add-on trial
    • Kerrigan JF, Shields WD, Nelson TY, et al. Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial. Epilepsy Res. 2000;42(2):133-139.
    • (2000) Epilepsy Res , vol.42 , Issue.2 , pp. 133-139
    • Kerrigan, J.F.1    Shields, W.D.2    Nelson, T.Y.3
  • 47
    • 84856578911 scopus 로고    scopus 로고
    • Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model
    • Heulens I, D’Hulst C, Van Dam D, De Deyn PP, Kooy RF. Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model. Behav Brain Res. 2012;229(1):244–249.
    • (2012) Behav Brain Res , vol.229 , Issue.1 , pp. 244-249
    • Heulens, I.1    D’hulst, C.2    Van Dam, D.3    De Deyn, P.P.4    Kooy, R.F.5
  • 48
    • 33750726094 scopus 로고    scopus 로고
    • Decreased expression of the GABAA receptor in fragile X syndrome
    • D’Hulst C, De Geest N, Reeve SP, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res. 2006; 1121(1): 238-245.
    • (2006) Brain Res , vol.1121 , Issue.1 , pp. 238-245
    • D’hulst, C.1    De Geest, N.2    Reeve, S.P.3
  • 49
    • 41049102573 scopus 로고    scopus 로고
    • Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila
    • Chang S, Bray SM, Li Z, et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol. 2008;4(4):256-263.
    • (2008) Nat Chem Biol , vol.4 , Issue.4 , pp. 256-263
    • Chang, S.1    Bray, S.M.2    Li, Z.3
  • 50
    • 35148899318 scopus 로고    scopus 로고
    • Clinical evaluation of ganaxolone in pediatric and adolescent patients with refractory epilepsy
    • Pieribone VA, Tsai J, Souffet C, et al. Clinical evaluation of ganaxolone in pediatric and adolescent patients with refractory epilepsy. Epilepsia. 2007;48(10):1870-1874.
    • (2007) Epilepsia , vol.48 , Issue.10 , pp. 1870-1874
    • Pieribone, V.A.1    Tsai, J.2    Souffet, C.3
  • 51
    • 84907187050 scopus 로고    scopus 로고
    • Ganaxolone Treatment in Children With Fragile X Syndrome
    • Accessed March 24
    • Marinus Pharmaceuticals. Ganaxolone Treatment in Children With Fragile X Syndrome. Available from: http://clinicaltrials.gov/ct2/show/ NCT01725152. NLM identifer: NCT01725152. Accessed March 24, 2014.
    • (2014)
  • 52
    • 0036097970 scopus 로고    scopus 로고
    • Selective modulation of tonic and phasic inhibitions in dentate gyrus granule cells
    • Nusser Z, Mody I. Selective modulation of tonic and phasic inhibitions in dentate gyrus granule cells. J Neurophysiol. 2002;87(5): 2624–2628.
    • (2002) J Neurophysiol , vol.87 , Issue.5 , pp. 2624-2628
    • Nusser, Z.1    Mody, I.2
  • 53
    • 30744441624 scopus 로고    scopus 로고
    • GABAA receptor-mediated tonic inhibition in thalamic neurons
    • Cope DW, Hughes SW, Crunelli V GABAA receptor-mediated tonic inhibition in thalamic neurons. J Neurosci. 2005;25(50):11553-11563.
    • (2005) J Neurosci , vol.25 , Issue.50 , pp. 11553-11563
    • Cope, D.W.1    Hughes, S.W.2    Crunelli, V.3
  • 54
    • 0036024231 scopus 로고    scopus 로고
    • Pharmacological characterization of a novel cell line expressing human alpha(4)beta(3) delta GABA(A) receptors
    • Brown N, Kerby J, Bonnert T, Whiting P, Wafford K. Pharmacological characterization of a novel cell line expressing human alpha(4)beta(3) delta GABA(A) receptors. Br J Pharmacol. 2002;136(7):965-974.
    • (2002) Br J Pharmacol , vol.136 , Issue.7 , pp. 965-974
    • Brown, N.1    Kerby, J.2    Bonnert, T.3    Whiting, P.4    Wafford, K.5
  • 55
    • 0036522966 scopus 로고    scopus 로고
    • Enhanced neurosteroid potentiation of ternary GABA(A) receptors containing the delta subunit
    • Wohlfarth KM, Bianchi MT, Macdonald RL. Enhanced neurosteroid potentiation of ternary GABA(A) receptors containing the delta subunit. J Neurosci. 2002;22(5):1541-1549.
    • (2002) J Neurosci , vol.22 , Issue.5 , pp. 1541-1549
    • Wohlfarth, K.M.1    Bianchi, M.T.2    Macdonald, R.L.3
  • 56
    • 0032945358 scopus 로고    scopus 로고
    • GABAA receptor subunit gamma2 and delta subtypes confer unique kinetic properties on recombinant GABAA receptor currents in mouse fibroblasts
    • Haas KF, Macdonald RL. GABAA receptor subunit gamma2 and delta subtypes confer unique kinetic properties on recombinant GABAA receptor currents in mouse fibroblasts. J Physiol. 1999;514(Pt 1):27-45.
    • (1999) J Physiol , vol.514 , pp. 27-45
    • Haas, K.F.1    Macdonald, R.L.2
  • 57
    • 84874256375 scopus 로고    scopus 로고
    • FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels
    • Deng PY, Rotman Z, Blundon JA, et al. FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels. Neuron. 2013;77(4):696-711.
    • (2013) Neuron , vol.77 , Issue.4 , pp. 696-711
    • Deng, P.Y.1    Rotman, Z.2    Blundon, J.A.3
  • 58
    • 83055184199 scopus 로고    scopus 로고
    • The GABA(A) receptor agonist THIP ameliorates specifc behavioral defcits in the mouse model of fragile X syndrome
    • Olmos-Serrano JL, Corbin JG, Burns MP. The GABA(A) receptor agonist THIP ameliorates specifc behavioral defcits in the mouse model of fragile X syndrome. Dev Neurosci. 2011;33(5):395–403.
    • (2011) Dev Neurosci , vol.33 , Issue.5 , pp. 395-403
    • Olmos-Serrano, J.L.1    Corbin, J.G.2    Burns, M.P.3
  • 59
    • 84870717922 scopus 로고    scopus 로고
    • Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of angelman syndrome
    • Egawa K, Kitagawa K, Inoue K, et al. Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of angelman syndrome. Sci Transl Med. 2012;4(163):163ra157.
    • (2012) Sci Transl Med , vol.4 , Issue.163 , pp. 163ra157
    • Egawa, K.1    Kitagawa, K.2    Inoue, K.3
  • 60
    • 0031769781 scopus 로고    scopus 로고
    • Pharmacokinetics of antiepileptic drugs
    • Browne, TR. Pharmacokinetics of antiepileptic drugs. Neurology. 1998;51(5 Suppl 4):S2-S7.
    • (1998) Neurology , vol.51 , Issue.5 , pp. S2-S7
    • Browne, T.R.1
  • 61
    • 0025791929 scopus 로고
    • New pharmacokinetic methods for the study of antiepileptic medications of the 1990s
    • Browne T, Szabo G. New pharmacokinetic methods for the study of antiepileptic medications of the 1990s. Epilepsia. 1990;32:S66-S73.
    • (1990) Epilepsia , vol.32 , pp. S66-S73
    • Browne, T.1    Szabo, G.2
  • 62
    • 0041766232 scopus 로고    scopus 로고
    • Serum concentrations and effects of gabapentin and vigabatrin: Observations from a dose titration study
    • Lindberger M, Luhr O, Johannessen SI, Larsson S, Tomson T. Serum concentrations and effects of gabapentin and vigabatrin: observations from a dose titration study. Ther Drug Monit. 2003;25(4):457-462.
    • (2003) Ther Drug Monit , vol.25 , Issue.4 , pp. 457-462
    • Lindberger, M.1    Luhr, O.2    Johannessen, S.I.3    Larsson, S.4    Tomson, T.5
  • 63
    • 34447550131 scopus 로고    scopus 로고
    • Retinal dysfunction in patients treated with vigabatrin
    • Polish
    • Podboraczynska-Jodkoi K, Lubinski W, Hampel-Osipowicz E. Retinal dysfunction in patients treated with vigabatrin. Klin. Oczna. 2007;109(1–3):85–88. Polish.
    • (2007) Klin. Oczna , vol.109 , Issue.1-3 , pp. 85-88
    • Podboraczynska-Jodkoi, K.1    Lubinski, W.2    Hampel-Osipowicz, E.3
  • 64
    • 84866615813 scopus 로고    scopus 로고
    • Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen
    • Henderson C, Wijetunge L, Kinoshita MN, et al. Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen. Sci Transl Med. 2012; 4(152):152ra128.
    • (2012) Sci Transl Med , vol.4 , Issue.152 , pp. 152ra128
    • Henderson, C.1    Wijetunge, L.2    Kinoshita, M.N.3
  • 65
    • 84907191267 scopus 로고    scopus 로고
    • Key trial of Seaside autism drug fails to show benefit [press release]
    • New York, NY: Thomson Reuters, [May 1], Accessed May 05, 2014
    • Thomson, Reuters. Key trial of Seaside autism drug fails to show benefit [press release]. New York, NY: Thomson Reuters; 2013 [May 1]. Available from: http://www.reuters.com/article/2013/05/01/us-autism-drug-idUSBRE9400NT20130501. Accessed May 05, 2014
    • (2013)
    • Thomson, R.1
  • 66
    • 84863875429 scopus 로고    scopus 로고
    • Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment
    • Sansone SM, Widaman KF, Hall SS, et al. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012;42(7):1377–1392.
    • (2012) J Autism Dev Disord , vol.42 , Issue.7 , pp. 1377-1392
    • Sansone, S.M.1    Widaman, K.F.2    Hall, S.S.3
  • 67
    • 0036166936 scopus 로고    scopus 로고
    • Neuroprotective agent riluzole potentiates postsynaptic GABA(A) receptor function
    • He Y, Benz A, Fu T, et al. Neuroprotective agent riluzole potentiates postsynaptic GABA(A) receptor function. Neuropharmacology. 2002;42(2):199–209.
    • (2002) Neuropharmacology , vol.42 , Issue.2 , pp. 199-209
    • He, Y.1    Benz, A.2    Fu, T.3
  • 68
    • 0028932656 scopus 로고
    • New antiepileptic drugs – an explosion of activity
    • Leach J P, Brodie MJ. New antiepileptic drugs – an explosion of activity. Seizure. 1995;4(1):5–17.
    • (1995) Seizure , vol.4 , Issue.1 , pp. 5-17
    • Leach, J.P.1    Brodie, M.J.2
  • 69
    • 0028999957 scopus 로고
    • A review of the preclinical pharmacology of tiagabine: A potent and selective anticonvulsant GABA uptake inhibitor
    • Suzdak PD, Jansen JA. A review of the preclinical pharmacology of tiagabine: a potent and selective anticonvulsant GABA uptake inhibitor. Epilepsia. 1995;36(6):612–626.
    • (1995) Epilepsia , vol.36 , Issue.6 , pp. 612-626
    • Suzdak, P.D.1    Jansen, J.A.2
  • 71
    • 0036827976 scopus 로고    scopus 로고
    • Epilepsy in fragile X syndrome
    • Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002;44(11):724–728.
    • (2002) Dev Med Child Neurol , vol.44 , Issue.11 , pp. 724-728
    • Berry-Kravis, E.1
  • 72
    • 84907201600 scopus 로고    scopus 로고
    • Seaside Therapeutics Announces End of Arbaclofen (STX209) Extension Study [press release]
    • Walnut Creek, CA: National Fragile X Foundation; 2013 [May 16], Accessed May 06
    • National Fragile X Foundation. Seaside Therapeutics Announces End of Arbaclofen (STX209) Extension Study [press release]. Walnut Creek, CA: National Fragile X Foundation; 2013 [May 16]. Available from: http://www.fragilex.org/2013/research/news-reports-and-com-mentaries/seaside-therapeutics-announces-end-of-arbaclofen-stx209-extension-study/. Accessed May 06, 2014.
    • (2014)
  • 73
    • 84896400422 scopus 로고    scopus 로고
    • Mechanism-based treatments in neurodevelopmental disorders: Fragile X syndrome
    • Berry-Kravis E. Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatr Neurol. 2014;50(4):297–302.
    • (2014) Pediatr Neurol , vol.50 , Issue.4 , pp. 297-302
    • Berry-Kravis, E.1
  • 74
    • 84899579632 scopus 로고    scopus 로고
    • Fragile X syndrome neurobiology translates into rational therapy
    • Braat S, Kooy R F. Fragile X syndrome neurobiology translates into rational therapy. Drug Discovery Today. 2014;19(4):510–519.
    • (2014) Drug Discovery Today , vol.19 , Issue.4 , pp. 510-519
    • Braat, S.1    Kooy, R.F.2
  • 75
    • 78650937072 scopus 로고    scopus 로고
    • Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
    • Jacquemont S, Curie A, des Portes V, et al. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011;3(64):64ra1.
    • (2011) Sci Transl Med , vol.3 , Issue.64 , pp. 64ra1
    • Jacquemont, S.1    Curie, A.2    Des Portes, V.3
  • 76
    • 84883887715 scopus 로고    scopus 로고
    • Electrocortical changes associated with minocycline treatment in fragile X syndrome
    • Schneider A, Leigh MJ, Adams P, et al. Electrocortical changes associated with minocycline treatment in fragile X syndrome. J Psychopharmacol. 2013;27(10):956–963.
    • (2013) J Psychopharmacol , vol.27 , Issue.10 , pp. 956-963
    • Schneider, A.1    Leigh, M.J.2    Adams, P.3
  • 77
    • 84907221829 scopus 로고    scopus 로고
    • Trial to evaluate the safety of Lovastatin in individuals with neurofbromatosis Type I (NF1)
    • University of California, Los Angeles, NLM identifer: NCT00352599. Accessed May 26
    • University of California, Los Angeles. Trial to evaluate the safety of Lovastatin in individuals with neurofbromatosis Type I (NF1). Available from: http://clinicaltrials.gov/show/NCT00352599. NLM identifer: NCT00352599. Accessed May 26, 2014.
    • (2014)
  • 78
    • 84859628864 scopus 로고    scopus 로고
    • Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice
    • Michalon A, Sidorov M, Ballard TM, et al. Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice. Neuron. 2012;74(1): 49–56.
    • (2012) Neuron , vol.74 , Issue.1 , pp. 49-56
    • Michalon, A.1    Sidorov, M.2    Ballard, T.M.3
  • 79
    • 84889028524 scopus 로고    scopus 로고
    • Multitouch tabletop technology for people with autism spectrum disorder: A review of the literature
    • Chen W. Multitouch tabletop technology for people with autism spectrum disorder: a review of the literature. Procedia Comput Sci. 2012;14:198–207.
    • (2012) Procedia Comput Sci , vol.14 , pp. 198-207
    • Chen, W.1
  • 80
    • 84874278109 scopus 로고    scopus 로고
    • Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome
    • Winarni TI, Schneider A, Borodyanskara M, Hagerman RJ. Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. Case Rep Genet. 2012;2012:280813.
    • (2012) Case Rep Genet , vol.2012 , pp. 280813
    • Winarni, T.I.1    Schneider, A.2    Borodyanskara, M.3    Hagerman, R.J.4
  • 81
    • 84876358587 scopus 로고    scopus 로고
    • A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome
    • Leigh MJ, Nguyen D V, Mu Y, et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr. 2013;34(3):147–155.
    • (2013) J Dev Behav Pediatr , vol.34 , Issue.3 , pp. 147-155
    • Leigh, M.J.1    Nguyen, D.V.2    Mu, Y.3
  • 82
    • 84880746947 scopus 로고    scopus 로고
    • High MMP-9 activity levels in fragile X syndrome are lowered by minocycline
    • Dziembowska M, Pretto DI, Janusz A, et al. High MMP-9 activity levels in fragile X syndrome are lowered by minocycline. Am J Med Genet A. 2013;161A(8):1897–1903.
    • (2013) Am J Med Genet A , vol.161A , Issue.8 , pp. 1897-1903
    • Dziembowska, M.1    Pretto, D.I.2    Janusz, A.3
  • 83
    • 65349169040 scopus 로고    scopus 로고
    • The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome
    • Wirojanan J, Jacquemont S, Diaz R, et al. The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. J Clin Sleep Med. 2009;5(2):145–150.
    • (2009) J Clin Sleep Med , vol.5 , Issue.2 , pp. 145-150
    • Wirojanan, J.1    Jacquemont, S.2    Diaz, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.