{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T03:34:48Z","timestamp":1791516888662,"version":"4.3.4"},"reference-count":109,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2019,1,14]],"date-time":"2019-01-14T00:00:00Z","timestamp":1547424000000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,1]]},"abstract":"<jats:p>Fifty years after the first publication on Rett syndrome, Banerjee et al. review the molecular, cellular and circuit neurobiology of the disorder. They summarize recent advances in therapeutic interventions explored in preclinical models, as well as lessons learnt from past clinical trials and how these might inform future therapeutic approaches.<\/jats:p>","DOI":"10.1093\/brain\/awy323","type":"journal-article","created":{"date-parts":[[2018,12,26]],"date-time":"2018-12-26T20:10:15Z","timestamp":1545855015000},"page":"239-248","source":"Crossref","is-referenced-by-count":108,"title":["Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder"],"prefix":"10.1093","volume":"142","author":[{"given":"Abhishek","family":"Banerjee","sequence":"first","affiliation":[{"name":"Laboratory of Neural Circuit Dynamics, Brain Research Institute, University of Z\u00fcrich, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan T","family":"Miller","sequence":"additional","affiliation":[{"name":"Roche Pharma Research and Early Development, Roche Innovation Center, F. Hoffman-La Roche, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keji","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mriganka","family":"Sur","sequence":"additional","affiliation":[{"name":"Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter E","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University School of Medicine, Atlanta GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,1,12]]},"reference":[{"key":"2019122704375600800_awy323-B1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1113\/JP270966","article-title":"Deficiency of GABAergic synaptic inhibition in the K\u00f6lliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome","volume":"594","author":"Abdala","year":"2016","journal-title":"J Physiol"},{"key":"2019122704375600800_awy323-B2","unstructured":"Acadia Pharmaceuticals and Neuran Pharmaceuticals. ACADIA Pharmaceuticals and Neuren Pharmaceuticals announce exclusive License Agreement for the North American development and commercialization of Trofinetide in Rett syndrome. 2018. www.neurenpharma.com\/irm\/PDF\/1759_0\/NeurenandACADIAannounceagreementforNorthAmerica (29 August 2018, date last accessed)."},{"key":"2019122704375600800_awy323-B3","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet"},{"key":"2019122704375600800_awy323-B4","unstructured":"Anavex Life Sciences Corp. Anavex Life Sciences to initiate Phase 2 study of ANAVEX\u00ae2\u201373 in Parkinson\u2019s disease Dementia and provides clinical study update for ANAVEX\u00ae2\u201373 in Rett syndrome. 2018. https:\/\/www.anavex.com\/anavex-life-sciences-initiate-phase-2-study-anavex2\u201373-parkinsons-disease-dementia-provides-clinical-study-update-anavex2\u201373-rett-syndrome\/ (29 August 2018, date last accessed)."},{"key":"2019122704375600800_awy323-B5","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.2006.045260","article-title":"Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation","volume":"44","author":"Archer","year":"2007","journal-title":"J Med Genet"},{"key":"2019122704375600800_awy323-B6","doi-asserted-by":"crossref","article-title":"Increased axonal bouton stability during learning in the mouse model of MECP2 duplication syndrome","author":"Ash","DOI":"10.1523\/ENEURO.0056-17.2018"},{"key":"2019122704375600800_awy323-B7","doi-asserted-by":"crossref","first-page":"34","DOI":"10.3389\/fpsyt.2012.00034","article-title":"Rett syndrome: genes, synapses, circuits, and therapeutics","volume":"3","author":"Banerjee","year":"2012","journal-title":"Front Psychiatry"},{"key":"2019122704375600800_awy323-B8","doi-asserted-by":"crossref","first-page":"E7287","DOI":"10.1073\/pnas.1615330113","article-title":"Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome","volume":"113","author":"Banerjee","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B9","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s11689-016-9181-6","article-title":"Arbaclofen in fragile X syndrome: results of phase 3 trials","volume":"9","author":"Berry-Kravis","year":"2017","journal-title":"J Neurodev Disord"},{"key":"2019122704375600800_awy323-B10","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/nrd.2017.221","article-title":"Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome","volume":"17","author":"Berry-Kravis","year":"2018","journal-title":"Nat Rev Drug Discov"},{"key":"2019122704375600800_awy323-B11","article-title":"Behavioral profiles in Rett syndrome: data from the natural history study","author":"Buchanan","year":"2018","journal-title":"Brain Dev"},{"key":"2019122704375600800_awy323-B12","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s11689-017-9193-x","article-title":"Updated report on tools to measure outcomes of clinical trials in fragile X syndrome","volume":"9","author":"Budimirovic","year":"2017","journal-title":"J Neurodev Disord"},{"key":"2019122704375600800_awy323-B13","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/hipo.22360","article-title":"Excitation\/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 of Mecp2 knockout mice","volume":"25","author":"Calfa","year":"2015","journal-title":"Hippocampus"},{"key":"2019122704375600800_awy323-B14","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1258\/ebm.2010.010261","article-title":"Experimental models of Rett syndrome based on Mecp2 dysfunction","volume":"236","author":"Calfa","year":"2011","journal-title":"Exp Biol Med"},{"key":"2019122704375600800_awy323-B15","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.seizure.2011.06.010","article-title":"Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice","volume":"20","author":"Cardoza","year":"2011","journal-title":"Seizure"},{"key":"2019122704375600800_awy323-B16","doi-asserted-by":"crossref","first-page":"9941","DOI":"10.1073\/pnas.1311685111","article-title":"Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett syndrome","volume":"111","author":"Castro","year":"2014","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B17","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.1153252","article-title":"MeCP2, a key contributor to neurological disease, activates and represses transcription","volume":"320","author":"Chahrour","year":"2008","journal-title":"Science"},{"key":"2019122704375600800_awy323-B18","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.neuron.2007.10.001","article-title":"The story of Rett syndrome: from clinic to neurobiology","volume":"56","author":"Chahrour","year":"2007","journal-title":"Neuron"},{"key":"2019122704375600800_awy323-B19","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/nature09582","article-title":"Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes","volume":"468","author":"Chao","year":"2010","journal-title":"Nature"},{"key":"2019122704375600800_awy323-B20","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.neuron.2007.08.018","article-title":"MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number","volume":"56","author":"Chao","year":"2007","journal-title":"Neuron"},{"key":"2019122704375600800_awy323-B21","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/85906","article-title":"Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice","volume":"27","author":"Chen","year":"2001","journal-title":"Nat Genet"},{"key":"2019122704375600800_awy323-B22","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1136\/jmedgenet-2013-102113","article-title":"Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome","volume":"51","author":"Cuddapah","year":"2014","journal-title":"J Med Genet"},{"key":"2019122704375600800_awy323-B23","doi-asserted-by":"crossref","first-page":"12560","DOI":"10.1073\/pnas.0506071102","article-title":"Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome","volume":"102","author":"Dani","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B24","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13023-017-0752-8","article-title":"Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial","volume":"13","author":"Downs","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2019122704375600800_awy323-B25","doi-asserted-by":"crossref","first-page":"e68851","DOI":"10.1371\/journal.pone.0068851","article-title":"Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome","volume":"8","author":"Duarte","year":"2013","journal-title":"PLoS One"},{"key":"2019122704375600800_awy323-B26","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.neuron.2012.12.004","article-title":"NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2","volume":"76","author":"Durand","year":"2012","journal-title":"Neuron"},{"key":"2019122704375600800_awy323-B27","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nature12348","article-title":"Activity-dependent phosphorylation of MECP2 threonine 308 regulates interaction with NcoR","volume":"499","author":"Ebert","year":"2013","journal-title":"Nature"},{"key":"2019122704375600800_awy323-B28","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nature14319","article-title":"Disruption of DNA-methylation-dependent long gene repression in Rett syndrome","volume":"522","author":"Gabel","year":"2015","journal-title":"Nature"},{"key":"2019122704375600800_awy323-B29","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.omtm.2017.04.007","article-title":"Development of a novel AAV gene therapy cassette with improved safety features and efficacy in a mouse model of Rett syndrome","volume":"5","author":"Gadalla","year":"2017","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2019122704375600800_awy323-B30","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1002\/stem.1950","article-title":"Inhibition of miR-15a promotes BDNF expression and rescues dendritic maturation deficits in MeCP2-deficient neurons","volume":"33","author":"Gao","year":"2015","journal-title":"Stem Cells"},{"key":"2019122704375600800_awy323-B31","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.pediatrneurol.2017.07.002","article-title":"A double-blind, randomized, placebo-controlled clinical study of Trofinetide in the treatment of Rett syndrome","volume":"76","author":"Glaze","year":"2017","journal-title":"Pediatr Neurol"},{"key":"2019122704375600800_awy323-B32","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1212\/WNL.0b013e3181d6b852","article-title":"Epilepsy and the natural history of Rett syndrome","volume":"74","author":"Glaze","year":"2010","journal-title":"Neurology"},{"key":"2019122704375600800_awy323-B33","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1038\/nn.3710","article-title":"Cellular origins of auditory event-related potential deficits in Rett syndrome","volume":"17","author":"Goffin","year":"2014","journal-title":"Nat Neurosci"},{"key":"2019122704375600800_awy323-B34","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1021\/acschemneuro.7b00346","article-title":"Rett syndrome: a genetic update and clinical review focusing on comorbidities","volume":"9","author":"Gold","year":"2018","journal-title":"ACS Chem Neurosci"},{"key":"2019122704375600800_awy323-B35","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1146\/annurev-cellbio-092910-154121","article-title":"The role of MeCP2 in the brain","volume":"27","author":"Guy","year":"2011","journal-title":"Annu Rev Cell Dev Biol"},{"key":"2019122704375600800_awy323-B36","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1126\/science.1138389","article-title":"Reversal of neurological defects in a mouse model of Rett syndrome","volume":"315","author":"Guy","year":"2007","journal-title":"Science"},{"key":"2019122704375600800_awy323-B37","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/85899","article-title":"A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome","volume":"27","author":"Guy","year":"2001","journal-title":"Nat Genet"},{"key":"2019122704375600800_awy323-B38","unstructured":"GW Pharmaceuticals. GW Pharmaceuticals to report third quarter financial results and host conference call on 7 August, 2018. 2018. http:\/\/ir.gwpharm.com\/news-releases\/news-release-details\/gw-pharmaceuticals-plc-reports-fiscal-third-quarter-2018 (29 August 2018, date last accessed)."},{"key":"2019122704375600800_awy323-B39","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/mrdd.10020","article-title":"Clinical manifestations and stages of rett syndrome","volume":"8","author":"Hagberg","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"2019122704375600800_awy323-B40","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","article-title":"A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett\u2019s syndrome: report of 35 cases","volume":"14","author":"Hagberg","year":"1983","journal-title":"Ann Neurol"},{"key":"2019122704375600800_awy323-B41","doi-asserted-by":"crossref","first-page":"5036","DOI":"10.1038\/ncomms6036","article-title":"Conditional deletion of Mecp2 in Parvalbumin-expressing GABAergic cells results in the absence of critical period plasticity","volume":"5","author":"He","year":"2014","journal-title":"Nat Commun"},{"key":"2019122704375600800_awy323-B42","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/ana.21562","article-title":"Brain metabolism in Rett syndrome: age, clinical, and genotype correlations","volume":"65","author":"Horsk\u00e1","year":"2009","journal-title":"Ann Neurol"},{"key":"2019122704375600800_awy323-B43","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/s41583-018-0006-3","article-title":"Rett syndrome: insights into genetic, molecular and circuit mechanisms","volume":"19","author":"Ip","year":"2018","journal-title":"Nat Rev Neurosci"},{"key":"2019122704375600800_awy323-B44","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.neuron.2015.10.029","article-title":"Loss of MeCP2 in Parvalbumin-and Somatostatin-expressing neurons in mice leads to distinct Rett syndrome-like phenotypes","volume":"88","author":"Ito-Ishida","year":"2015","journal-title":"Neuron"},{"key":"2019122704375600800_awy323-B45","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ejpn.2007.02.008","article-title":"Seizures in Rett syndrome: an overview from a one-year calendar study","volume":"11","author":"Jian","year":"2007","journal-title":"Eur J Paediatr Neurol"},{"key":"2019122704375600800_awy323-B46","doi-asserted-by":"crossref","first-page":"19518","DOI":"10.1523\/JNEUROSCI.1745-13.2013","article-title":"Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome","volume":"33","author":"Jiang","year":"2013","journal-title":"J Neurosci"},{"key":"2019122704375600800_awy323-B47","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1038\/nm.4406","article-title":"Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome","volume":"23","author":"Johnson","year":"2017","journal-title":"Nat Med"},{"key":"2019122704375600800_awy323-B48","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.tins.2015.12.008","article-title":"Rett syndrome: crossing the threshold to clinical translation","volume":"39","author":"Katz","year":"2016","journal-title":"Trends Neurosci"},{"key":"2019122704375600800_awy323-B49","doi-asserted-by":"crossref","first-page":"S77","DOI":"10.1016\/j.braindev.2004.10.008","article-title":"MeCP2 expression and function during brain development: implications for Rett syndrome\u2019s pathogenesis and clinical evolution","volume":"27","author":"Kaufmann","year":"2005","journal-title":"Brain Dev"},{"key":"2019122704375600800_awy323-B50","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/cercor\/10.10.981","article-title":"Dendritic anomalies in disorders associated with mental retardation","volume":"10","author":"Kaufmann","year":"2000","journal-title":"Cereb Cortex"},{"key":"2019122704375600800_awy323-B51","volume-title":"Rett syndrome","author":"Kaufmann","year":"2017"},{"key":"2019122704375600800_awy323-B52","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1080\/21678707.2016.1229181","article-title":"Neurobiologically-based treatments in Rett syndrome: opportunities and challenges","volume":"4","author":"Kaufmann","year":"2016","journal-title":"Expert Opin Orphan Drugs"},{"key":"2019122704375600800_awy323-B53","doi-asserted-by":"crossref","first-page":"pii: e31451","DOI":"10.7554\/eLife.31451","article-title":"Impaired spatial memory codes in a mouse model of Rett syndrome","volume":"7","author":"Kee","year":"2018","journal-title":"Elife"},{"key":"2019122704375600800_awy323-B54","doi-asserted-by":"crossref","first-page":"4596","DOI":"10.1073\/pnas.1311141111","article-title":"Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome","volume":"111","author":"Khwaja","year":"2014","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B55","doi-asserted-by":"crossref","first-page":"15114","DOI":"10.1073\/pnas.1618737114","article-title":"DNA methylation in the gene body influences MeCP2-mediated gene repression","volume":"113","author":"Kinde","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B56","doi-asserted-by":"crossref","first-page":"14077","DOI":"10.1038\/ncomms14077","article-title":"MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice","volume":"8","author":"Krishnan","year":"2017","journal-title":"Nat Commun"},{"key":"2019122704375600800_awy323-B57","doi-asserted-by":"crossref","first-page":"E4782","DOI":"10.1073\/pnas.1506499112","article-title":"MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex","volume":"112","author":"Krishnan","year":"2015","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B58","doi-asserted-by":"crossref","first-page":"13860","DOI":"10.1523\/JNEUROSCI.2159-12.2012","article-title":"Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with Ketamine treatment","volume":"32","author":"Kron","year":"2012","journal-title":"J Neurosci"},{"key":"2019122704375600800_awy323-B59","doi-asserted-by":"crossref","first-page":"e1006793","DOI":"10.1371\/journal.pgen.1006793","article-title":"MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain","volume":"13","author":"Lagger","year":"2017","journal-title":"PLoS Genet"},{"key":"2019122704375600800_awy323-B60","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1002\/ana.24513","article-title":"Visual evoked potentials detect cortical processing deficits in Rett syndrome","volume":"78","author":"LeBlanc","year":"2015","journal-title":"Ann Neurol"},{"key":"2019122704375600800_awy323-B61","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/nrneurol.2016.186","article-title":"Clinical and biological progress over 50 years in Rett syndrome","volume":"13","author":"Leonard","year":"2016","journal-title":"Nat Rev Neurol"},{"key":"2019122704375600800_awy323-B62","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(92)90610-O","article-title":"Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA","volume":"69","author":"Lewis","year":"1992","journal-title":"Cell"},{"key":"2019122704375600800_awy323-B63","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.neuropharm.2013.03.024","article-title":"BDNF deregulation in Rett syndrome","volume":"76","author":"Li","year":"2014","journal-title":"Neuropharmacology"},{"key":"2019122704375600800_awy323-B64","doi-asserted-by":"crossref","first-page":"E1575","DOI":"10.1073\/pnas.1517244113","article-title":"Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors","volume":"113","author":"Li","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B65","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.stem.2013.09.001","article-title":"Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons","volume":"13","author":"Li","year":"2013","journal-title":"Cell Stem Cell"},{"key":"2019122704375600800_awy323-B66","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/cge.12814","article-title":"Expanding the clinical picture of the MECP2 duplication syndrome","volume":"91","author":"Lim","year":"2017","journal-title":"Clin Genet"},{"key":"2019122704375600800_awy323-B67","doi-asserted-by":"crossref","first-page":"7271","DOI":"10.1038\/s41598-017-07400-8","article-title":"Defining a critical period for inhibitory circuits within the somatosensory cortex","volume":"7","author":"Lo","year":"2017","journal-title":"Sci Rep"},{"key":"2019122704375600800_awy323-B108","doi-asserted-by":"crossref","first-page":"2914","DOI":"10.1172\/JCI78167","article-title":"MECP2 disorders: from the clinic to mice and back","volume":"125","author":"Lombardi","year":"2015","journal-title":"J Clin Invest"},{"key":"2019122704375600800_awy323-B68","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.neuron.2016.07.018","article-title":"Loss and gain of MeCP2 cause similar hippocampal circuit dysfunction that is rescued by deep brain stimulation in a Rett syndrome mouse model","volume":"91","author":"Lu","year":"2016","journal-title":"Neuron"},{"key":"2019122704375600800_awy323-B69","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/nrg3897","article-title":"Rett syndrome: a complex disorder with simple roots","volume":"16","author":"Lyst","year":"2015","journal-title":"Nat Rev Genet"},{"key":"2019122704375600800_awy323-B70","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1038\/nn.3434","article-title":"Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR\/SMRT co-repressor","volume":"16","author":"Lyst","year":"2013","journal-title":"Nat Neurosci"},{"key":"2019122704375600800_awy323-B71","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/acn3.468","article-title":"Effect of desipramine on patients with breathing disorders in Rett syndrome","volume":"5","author":"Mancini","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"key":"2019122704375600800_awy323-B72","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.cell.2010.10.016","article-title":"A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells","volume":"143","author":"Marchetto","year":"2010","journal-title":"Cell"},{"key":"2019122704375600800_awy323-B73","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.neuroscience.2012.11.058","article-title":"Reduced seizure threshold and altered network oscillatory properties in a mouse model of Rett syndrome","volume":"231","author":"McLeod","year":"2013","journal-title":"Neuroscience"},{"key":"2019122704375600800_awy323-B74","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/j.cell.2012.11.022","article-title":"MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system","volume":"151","author":"Mell\u00e9n","year":"2012","journal-title":"Cell"},{"key":"2019122704375600800_awy323-B75","doi-asserted-by":"crossref","first-page":"E7812","DOI":"10.1073\/pnas.1708044114","article-title":"5-hydroxymethylcytosine accumulation in postmitotic neurons results in functional demethylation of expressed genes","volume":"114","author":"Mell\u00e9n","year":"2017","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B76","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/mp.2017.86","article-title":"MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling","volume":"23","author":"Mellios","year":"2017","journal-title":"Mol Psychiatry"},{"key":"2019122704375600800_awy323-B77","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N Engl J Med"},{"key":"2019122704375600800_awy323-B78","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.14199","article-title":"Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders","volume":"5","author":"Meng","year":"2016","journal-title":"Elife"},{"key":"2019122704375600800_awy323-B79","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.cub.2006.02.062","article-title":"MeCP2-dependent transcriptional repression regulates excitatory neurotransmission","volume":"16","author":"Nelson","year":"2006","journal-title":"Curr Biol"},{"key":"2019122704375600800_awy323-B80","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.neuron.2015.07.033","article-title":"Excitatory\/inhibitory balance and circuit homeostasis in autism spectrum disorders","volume":"87","author":"Nelson","year":"2015","journal-title":"Neuron"},{"key":"2019122704375600800_awy323-B81","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1212\/01.wnl.0000291011.54508.aa","article-title":"Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome","volume":"70","author":"Neul","year":"2008","journal-title":"Neurology"},{"key":"2019122704375600800_awy323-B82","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann Neurol"},{"key":"2019122704375600800_awy323-B83","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1866-1955-6-20","article-title":"Developmental delay in Rett syndrome: data from the natural history study","volume":"6","author":"Neul","year":"2014","journal-title":"J Neurodev Disord"},{"key":"2019122704375600800_awy323-B84","unstructured":"Neuren Pharmaceuticals. Neuren\u2019s Phase 2 trial of trofinetide demonstrates significant clinical benefit in pediatric Rett syndrome. Neuren (NEU) - ASX Announcement 22 March 2017. Available from: www.rettsyndrome.org\/document.doc?id=574 (29 August 2018, date last accessed)."},{"key":"2019122704375600800_awy323-B85","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/acn3.533","article-title":"Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome","volume":"5","author":"O\u2019Leary","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"key":"2019122704375600800_awy323-B86","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1001\/archneurol.2011.149","article-title":"Rett syndrome","volume":"68","author":"Percy","year":"2011","journal-title":"Arch Neurol"},{"key":"2019122704375600800_awy323-B109","first-page":"14","volume-title":"Rett Syndrome","author":"Percy","year":"2017"},{"key":"2019122704375600800_awy323-B87","first-page":"723","article-title":"On a unusual brain atrophy syndrome in hyperammonemia in childhood","volume":"116","author":"Rett","year":"1966","journal-title":"Wien Med Wochenschr"},{"key":"2019122704375600800_awy323-B88","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1007\/s10354-016-0492-8","article-title":"On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood","volume":"166","author":"Rett","year":"2016","journal-title":"Wien Med Wochenschr"},{"key":"2019122704375600800_awy323-B89","unstructured":"Rett Syndrome Research Trust. AveXis reports on Rett gene therapy program: AVXS-201. 2018. reverserett.org\/avexis-reports-rett-gene-therapy-program-avxs-201."},{"key":"2019122704375600800_awy323-B90","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nrn.2017.112","article-title":"Sensory perception in autism","volume":"18","author":"Robertson","year":"2017","journal-title":"Nat Rev Neurosci"},{"key":"2019122704375600800_awy323-B91","doi-asserted-by":"crossref","DOI":"10.1126\/science.aab3897","volume-title":"Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders","author":"Sahin","year":"2015"},{"key":"2019122704375600800_awy323-B92","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/gim.2016.42","volume":"19","author":"Sajan","year":"2017","journal-title":"Genet Med"},{"key":"2019122704375600800_awy323-B93","doi-asserted-by":"crossref","first-page":"1938","DOI":"10.1093\/cercor\/bhv002","article-title":"Mechanisms of functional hypoconnectivity in the medial prefrontal cortex of Mecp2 null mice","volume":"26","author":"Sceniak","year":"2016","journal-title":"Cereb Cortex"},{"key":"2019122704375600800_awy323-B94","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1212\/WNL.0000000000004515","article-title":"Randomized open-label trial of dextromethorphan in Rett syndrome","volume":"89","author":"Smith-Hicks","year":"2017","journal-title":"Neurology"},{"key":"2019122704375600800_awy323-B95","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/j.cell.2017.09.047","article-title":"Early-life gene expression in neurons modulates lasting epigenetic states","volume":"171","author":"Stroud","year":"2017","journal-title":"Cell"},{"key":"2019122704375600800_awy323-B96","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1093\/brain\/aww302","article-title":"Longitudinal course of epilepsy in Rett syndrome and related disorders","volume":"140","author":"Tarquinio","year":"2017","journal-title":"Brain"},{"key":"2019122704375600800_awy323-B97","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.braindev.2018.03.010","article-title":"The course of awake breathing disturbances across the lifespan in Rett syndrome","volume":"40","author":"Tarquinio","year":"2018","journal-title":"Brain Dev"},{"key":"2019122704375600800_awy323-B98","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/nature24058","article-title":"Radically truncated MeCP2 rescues Rett syndrome-like neurological defects","volume":"550","author":"Tillotson","year":"2017","journal-title":"Nature"},{"key":"2019122704375600800_awy323-B99","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1073\/pnas.0812394106","article-title":"Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice","volume":"106","author":"Tropea","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B100","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.14198","article-title":"Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome","volume":"5","author":"Ure","year":"2016","journal-title":"Elife"},{"key":"2019122704375600800_awy323-B101","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1159\/000329580","article-title":"MECP2 duplication syndrome","volume":"2","author":"Van Esch","year":"2012","journal-title":"Mol Syndromol"},{"key":"2019122704375600800_awy323-B102","doi-asserted-by":"crossref","first-page":"e1303","DOI":"10.1542\/peds.2011-0426","article-title":"A systematic review of early intensive intervention for autism spectrum disorders","volume":"127","author":"Warren","year":"2011","journal-title":"Pediatrics"},{"key":"2019122704375600800_awy323-B103","doi-asserted-by":"crossref","first-page":"12440","DOI":"10.1523\/JNEUROSCI.3321-09.2009","article-title":"Synaptic circuit abnormalities of motor-frontal layer 2\/3 pyramidal neurons in an RNA interference model of methyl-CpG-binding protein 2 deficiency","volume":"29","author":"Wood","year":"2009","journal-title":"J Neurosci"},{"key":"2019122704375600800_awy323-B104","doi-asserted-by":"crossref","first-page":"17551","DOI":"10.1073\/pnas.0507856102","article-title":"Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2","volume":"102","author":"Young","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019122704375600800_awy323-B105","doi-asserted-by":"crossref","first-page":"6468","DOI":"10.1038\/s41598-017-06916-3","article-title":"Altered visual cortical processing in a mouse model of MECP2 duplication syndrome","volume":"7","author":"Zhang","year":"2017","journal-title":"Sci Rep"},{"key":"2019122704375600800_awy323-B106","doi-asserted-by":"crossref","first-page":"2754","DOI":"10.1523\/JNEUROSCI.4900-12.2014","article-title":"Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures","volume":"34","author":"Zhang","year":"2014","journal-title":"J Neurosci"},{"key":"2019122704375600800_awy323-B107","first-page":"4","article-title":"Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities","author":"Zoghbi","year":"2012","journal-title":"Cold Spring Harb Perspect Biol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/142\/2\/239\/31622493\/awy323.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/142\/2\/239\/31622493\/awy323.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T03:22:27Z","timestamp":1662693747000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/142\/2\/239\/5288793"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,12]]},"references-count":109,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,1,12]]},"published-print":{"date-parts":[[2019,2,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awy323","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,2]]},"published":{"date-parts":[[2019,1,12]]}}}