{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T16:56:32Z","timestamp":1789059392740,"version":"build-2803163510"},"reference-count":124,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,8]]},"DOI":"10.7759\/cureus.41555","type":"journal-article","created":{"date-parts":[[2023,7,8]],"date-time":"2023-07-08T12:30:03Z","timestamp":1688819403000},"source":"Crossref","is-referenced-by-count":5,"title":["Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics"],"prefix":"10.7759","author":[{"given":"David  C","family":"Oluigbo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0612","article-title":"An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001","volume":"6","author":"Hagberg B","year":"2002","unstructured":"Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002, 6:293-7. 10.1053\/ejpn.2002.0612","journal-title":"Eur J Paediatr Neurol"},{"key":"ref2","doi-asserted-by":"publisher","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 RE","year":"1999","unstructured":"Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999, 23:185-8. 10.1038\/13810","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"publisher","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 JL","year":"2008","unstructured":"Neul JL, Fang P, Barrish J, et al.. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008, 70:1313-21. 10.1212\/01.wnl.0000291011.54508.aa","journal-title":"Neurology"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M305308200","article-title":"Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation","volume":"278","author":"Georgel PT","year":"2003","unstructured":"Georgel PT, Horowitz-Scherer RA, Adkins N, Woodcock CL, Wade PA, Hansen JC. Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. J Biol Chem. 2003, 278:32181-8. 10.1074\/jbc.M305308200","journal-title":"J Biol Chem"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2005.07.005","article-title":"Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome","volume":"21","author":"Asaka Y","year":"2006","unstructured":"Asaka Y, Jugloff DG, Zhang L, Eubanks JH, Fitzsimonds RM. Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis. 2006, 21:217-27. 10.1016\/j.nbd.2005.07.005","journal-title":"Neurobiol Dis"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.08.018","article-title":"MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number","volume":"56","author":"Chao HT","year":"2007","unstructured":"Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007, 56:58-65. 10.1016\/j.neuron.2007.08.018","journal-title":"Neuron"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh282","article-title":"Mild overexpression of MeCP2 causes a progressive neurological disorder in mice","volume":"13","author":"Collins AL","year":"2004","unstructured":"Collins AL, Levenson JM, Vilaythong AP, et al.. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004, 13:2679-89. 10.1093\/hmg\/ddh282","journal-title":"Hum Mol Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2623-05.2006","article-title":"Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome","volume":"26","author":"Moretti P","year":"2006","unstructured":"Moretti P, Levenson JM, Battaglia F, et al.. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006, 26:319-27. 10.1523\/JNEUROSCI.2623-05.2006","journal-title":"J Neurosci"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2006.02.062","article-title":"MeCP2-dependent transcriptional repression regulates excitatory neurotransmission","volume":"16","author":"Nelson ED","year":"2006","unstructured":"Nelson ED, Kavalali ET, Monteggia LM. MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Curr Biol. 2006, 16:710-6. 10.1016\/j.cub.2006.02.062","journal-title":"Curr Biol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.2.115","article-title":"Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation","volume":"11","author":"Shahbazian MD","year":"2002","unstructured":"Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002, 11:115-24. 10.1093\/hmg\/11.2.115","journal-title":"Hum Mol Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0220-2","article-title":"Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant","volume":"11","author":"Bahi-Buisson N","year":"2010","unstructured":"Bahi-Buisson N, Nectoux J, Girard B, et al.. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics. 2010, 11:241-9. 10.1007\/s10048-009-0220-2","journal-title":"Neurogenetics"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2010.01.030","article-title":"Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state","volume":"37","author":"Skene PJ","year":"2010","unstructured":"Skene PJ, Illingworth RS, Webb S, et al.. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell. 2010, 37:457-68. 10.1016\/j.molcel.2010.01.030","journal-title":"Mol Cell"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1505909112","article-title":"MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome","volume":"112","author":"Chen L","year":"2015","unstructured":"Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015, 112:5509-14. 10.1073\/pnas.1505909112","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.08.022","article-title":"Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function","volume":"72","author":"Cohen S","year":"2011","unstructured":"Cohen S, Gabel HW, Hemberg M, et al.. Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron. 2011, 72:72-85. 10.1016\/j.neuron.2011.08.022","journal-title":"Neuron"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/nature14319","article-title":"Disruption of DNA-methylation-dependent long gene repression in Rett syndrome","volume":"522","author":"Gabel HW","year":"2015","unstructured":"Gabel HW, Kinde B, Stroud H, et al.. Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. Nature. 2015, 522:89-93. 10.1038\/nature14319","journal-title":"Nature"},{"key":"ref16","doi-asserted-by":"publisher","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 S","year":"2017","unstructured":"Lagger S, Connelly JC, Schweikert G, et al.. MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain. PLoS Genet. 2017, 13:e1006793. 10.1371\/journal.pgen.1006793","journal-title":"PLoS Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/nature12348","article-title":"Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR","volume":"499","author":"Ebert DH","year":"2013","unstructured":"Ebert DH, Gabel HW, Robinson ND, et al.. Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature. 2013, 499:341-5. 10.1038\/nature12348","journal-title":"Nature"},{"key":"ref18","doi-asserted-by":"publisher","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 JD","year":"1992","unstructured":"Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, Bird A. Purification, sequence, and cellular-localization of a novel chromosomal protein that binds to methylated DNA. Cell. 1992, 69:905-14. 10.1016\/0092-8674(92)90610-o","journal-title":"Cell"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3897","article-title":"Rett syndrome: a complex disorder with simple roots","volume":"16","author":"Lyst MJ","year":"2015","unstructured":"Lyst MJ, Bird A. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet. 2015, 16:261-75. 10.1038\/nrg3897","journal-title":"Nat Rev Genet"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1618737114","article-title":"DNA methylation in the gene body influences MeCP2-mediated gene repression","volume":"113","author":"Kinde B","year":"2016","unstructured":"Kinde B, Wu DY, Greenberg ME, Gabel HW. DNA methylation in the gene body influences MeCP2-mediated gene repression. Proc Natl Acad Sci U S A. 2016, 113:15114-9. 10.1073\/pnas.1618737114","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1126\/science.1153252","article-title":"MeCP2, a key contributor to neurological disease, activates and represses transcription","volume":"320","author":"Chahrour M","year":"2008","unstructured":"Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008, 320:1224-9. 10.1126\/science.1153252","journal-title":"Science"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.01.032","article-title":"MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8\/Drosha complex","volume":"28","author":"Cheng TL","year":"2014","unstructured":"Cheng TL, Wang Z, Liao Q, Zhu Y, Zhou WH, Xu W, Qiu Z. MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8\/Drosha complex. Dev Cell. 2014, 28:547-60. 10.1016\/j.devcel.2014.01.032","journal-title":"Dev Cell"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-092910-154121","article-title":"The role of MeCP2 in the brain","volume":"27","author":"Guy J","year":"2011","unstructured":"Guy J, Cheval H, Selfridge J, Bird A. The role of MeCP2 in the brain. Annu Rev Cell Dev Biol. 2011, 27:631-52. 10.1146\/annurev-cellbio-092910-154121","journal-title":"Annu Rev Cell Dev Biol"},{"key":"ref24","doi-asserted-by":"publisher","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 Y","year":"2013","unstructured":"Li Y, Wang H, Muffat J, et al.. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. Cell Stem Cell. 2013, 13:446-58. 10.1016\/j.stem.2013.09.001","journal-title":"Cell Stem Cell"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0175-11.2012","article-title":"The Rett syndrome protein MeCP2 regulates synaptic scaling","volume":"32","author":"Qiu Z","year":"2012","unstructured":"Qiu Z, Sylwestrak EL, Lieberman DN, Zhang Y, Liu XY, Ghosh A. The Rett syndrome protein MeCP2 regulates synaptic scaling. J Neurosci. 2012, 32:989-94. 10.1523\/JNEUROSCI.0175-11.2012","journal-title":"J Neurosci"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.nlm.2018.11.006","article-title":"Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology","volume":"165","author":"Yang H","year":"2019","unstructured":"Yang H, Li K, Han S, Zhou A, Zhou ZJ. Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology. Neurobiol Learn Mem. 2019, 165:106961. 10.1016\/j.nlm.2018.11.006","journal-title":"Neurobiol Learn Mem"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01005.x","article-title":"Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure","volume":"74","author":"Sch\u00fcle B","year":"2008","unstructured":"Sch\u00fcle B, Armstrong DD, Vogel H, Oviedo A, Francke U. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Clin Genet. 2008, 74:116-26. 10.1111\/j.1399-0004.2008.01005.x","journal-title":"Clin Genet"},{"key":"ref28","doi-asserted-by":"crossref","DOI":"10.1002\/ana.1272","article-title":"Classic Rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation","volume":"50","author":"Armstrong J","year":"2001","unstructured":"Armstrong J, P\u00f3o P, Pineda M, Aibar E, Ge\u00e1n E, Catal\u00e0 V V, Monr\u00f3s E. Classic Rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation. Ann Neurol. 2001, 50:692.","journal-title":"Ann Neurol"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-021-02500-5","article-title":"A rare case of a male child with post-zygotic de novo mosaic variant c.538C\u2009>\u2009T in MECP2 gene: a case report of Rett syndrome","volume":"21","author":"Shah J","year":"2021","unstructured":"Shah J, Patel H, Jain D, Sheth F, Sheth H. A rare case of a male child with post-zygotic de novo mosaic variant c.538C\u2009>\u2009T in MECP2 gene: a case report of Rett syndrome. BMC Neurol. 2021, 21:469. 10.1186\/s12883-021-02500-5","journal-title":"BMC Neurol"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1088","article-title":"MeCP2_e2 partially compensates for lack of MeCP2_e1: a male case of Rett syndrome","volume":"8","author":"Takeguchi R","year":"2020","unstructured":"Takeguchi R, Takahashi S, Kuroda M, et al.. MeCP2_e2 partially compensates for lack of MeCP2_e1: a male case of Rett syndrome. Mol Genet Genomic Med. 2020, 8:e1088. 10.1002\/mgg3.1088","journal-title":"Mol Genet Genomic Med"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38595","article-title":"A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation","volume":"176","author":"Tokaji N","year":"2018","unstructured":"Tokaji N, Ito H, Kohmoto T, et al.. A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. Am J Med Genet A. 2018, 176:699-702. 10.1002\/ajmg.a.38595","journal-title":"Am J Med Genet A"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200745","article-title":"Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy","volume":"10","author":"Top\u00e7u M","year":"2002","unstructured":"Top\u00e7u M, Akyerli C, Sayi A, T\u00f6r\u00fcner GA, Ko\u00e7o\u011flu SR, Cimbi\u015f M, Oz\u00e7elik T. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet. 2002, 10:77-81. 10.1038\/sj.ejhg.5200745","journal-title":"Eur J Hum Genet"},{"key":"ref33","article-title":"Rett syndrome symptomatology of institutionalized adults with mental-retardation: comparison of males and females","volume":"95","author":"Burd L","year":"1991","unstructured":"Burd L, Randall T, Martsolf JT, Kerbeshian J. Rett syndrome symptomatology of institutionalized adults with mental-retardation: comparison of males and females. Am J Ment Retard. 1991, 95:596-601.","journal-title":"Am J Ment Retard"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10026","article-title":"Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype","volume":"8","author":"Hoffbuhr KC","year":"2002","unstructured":"Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev. 2002, 8:99-105. 10.1002\/mrdd.10026","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1016\/s0387-7604(01)00345-x","article-title":"Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems","volume":"23","author":"Kudo S","year":"2001","unstructured":"Kudo S, Nomura Y, Segawa M, et al.. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Brain Dev. 2001, 23:165-73. 10.1016\/s0387-7604(01)00345-x","journal-title":"Brain Dev"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.487","article-title":"Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain","volume":"40","author":"Kudo S","year":"2003","unstructured":"Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M. Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. J Med Genet. 2003, 40:487-93. 10.1136\/jmg.40.7.487","journal-title":"J Med Genet"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi391","article-title":"CDKL5\/Stk9 kinase inactivation is associated with neuronal developmental disorders","volume":"14","author":"Lin C","year":"2005","unstructured":"Lin C, Franco B, Rosner MR. CDKL5\/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet. 2005, 14:3775-86. 10.1093\/hmg\/ddi391","journal-title":"Hum Mol Genet"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M804613200","article-title":"CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail","volume":"283","author":"Rusconi L","year":"2008","unstructured":"Rusconi L, Salvatoni L, Giudici L, Bertani I, Kilstrup-Nielsen C, Broccoli V, Landsberger N. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem. 2008, 283:30101-11. 10.1074\/jbc.M804613200","journal-title":"J Biol Chem"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22639","article-title":"Molecular and synaptic bases of CDKL5 Disorder","volume":"79","author":"Zhu YC","year":"2019","unstructured":"Zhu YC, Xiong ZQ. Molecular and synaptic bases of CDKL5 Disorder. Dev Neurobiol. 2019, 79:8-19. 10.1002\/dneu.22639","journal-title":"Dev Neurobiol"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.02.015","article-title":"Cyclin-dependent kinase-like 5 deficiency disorder: clinical review","volume":"97","author":"Olson HE","year":"2019","unstructured":"Olson HE, Demarest ST, Pestana-Knight EM, et al.. Cyclin-dependent kinase-like 5 deficiency disorder: clinical review. Pediatr Neurol. 2019, 97:18-25. 10.1016\/j.pediatrneurol.2019.02.015","journal-title":"Pediatr Neurol"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000326592.37105.88","article-title":"CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy","volume":"71","author":"Elia M","year":"2008","unstructured":"Elia M, Falco M, Ferri R, et al.. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008, 71:997-9. 10.1212\/01.wnl.0000326592.37105.88","journal-title":"Neurology"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww302","article-title":"Longitudinal course of epilepsy in Rett syndrome and related disorders","volume":"140","author":"Tarquinio DC","year":"2017","unstructured":"Tarquinio DC, Hou W, Berg A, et al.. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain. 2017, 140:306-18. 10.1093\/brain\/aww302","journal-title":"Brain"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.156","article-title":"The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy","volume":"21","author":"Fehr S","year":"2013","unstructured":"Fehr S, Wilson M, Downs J, et al.. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013, 21:266-73. 10.1038\/ejhg.2012.156","journal-title":"Eur J Hum Genet"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026237","article-title":"CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms","volume":"42","author":"Scala E","year":"2005","unstructured":"Scala E, Ariani F, Mari F, et al.. CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005, 42:103-7. 10.1136\/jmg.2004.026237","journal-title":"J Med Genet"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.04.005","article-title":"Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis","volume":"283","author":"Martynoga B","year":"2005","unstructured":"Martynoga B, Morrison H, Price DJ, Mason JO. Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis. Dev Biol. 2005, 283:113-27. 10.1016\/j.ydbio.2005.04.005","journal-title":"Dev Biol"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90262-7","article-title":"Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres","volume":"14","author":"Xuan S","year":"1995","unstructured":"Xuan S, Baptista CA, Balas G, Tao W, Soares VC, Lai E. Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres. Neuron. 1995, 14:1141-52. 10.1016\/0896-6273(95)90262-7","journal-title":"Neuron"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.9545","article-title":"The FOXG1\/FOXO\/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons","volume":"7","author":"Vezzali R","year":"2016","unstructured":"Vezzali R, Weise SC, Hellbach N, Machado V, Heidrich S, Vogel T. The FOXG1\/FOXO\/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons. Oncotarget. 2016, 7:37436-55. 10.18632\/oncotarget.9545","journal-title":"Oncotarget"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20174176","article-title":"FOXG1-related syndrome: from clinical to molecular genetics and pathogenic mechanisms","volume":"20","author":"Wong LC","year":"2019","unstructured":"Wong LC, Singh S, Wang HP, Hsu CJ, Hu SC, Lee WT. FOXG1-related syndrome: from clinical to molecular genetics and pathogenic mechanisms. Int J Mol Sci. 2019, 20:4176. 10.3390\/ijms20174176","journal-title":"Int J Mol Sci"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.01.022","article-title":"Epilepsy in patients with duplications of chromosome 14 harboring FOXG1","volume":"50","author":"Pontrelli G","year":"2014","unstructured":"Pontrelli G, Cappelletti S, Claps D, et al.. Epilepsy in patients with duplications of chromosome 14 harboring FOXG1. Pediatr Neurol. 2014, 50:530-5. 10.1016\/j.pediatrneurol.2014.01.022","journal-title":"Pediatr Neurol"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1395345","article-title":"Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy","volume":"46","author":"Bertossi C","year":"2015","unstructured":"Bertossi C, Cassina M, Cappellari A, et al.. Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. Neuropediatrics. 2015, 46:56-64. 10.1055\/s-0034-1395345","journal-title":"Neuropediatrics"},{"key":"ref51","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.75","article-title":"FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants","volume":"20","author":"Mitter D","year":"2018","unstructured":"Mitter D, Pringsheim M, Kaulisch M, et al.. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2018, 20:98-108. 10.1038\/gim.2017.75","journal-title":"Genet Med"},{"key":"ref52","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.11.010","article-title":"Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature","volume":"18","author":"De Bruyn C","year":"2014","unstructured":"De Bruyn C, Vanderhasselt T, Tanyal\u00e7in I, Keymolen K, Van Rompaey KL, De Meirleir L, Jansen AC. Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature. Eur J Paediatr Neurol. 2014, 18:420-6. 10.1016\/j.ejpn.2013.11.010","journal-title":"Eur J Paediatr Neurol"},{"key":"ref53","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.015","article-title":"FOXG1 is responsible for the congenital variant of Rett syndrome","volume":"83","author":"Ariani F","year":"2008","unstructured":"Ariani F, Hayek G, Rondinella D, et al.. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008, 83:89-93. 10.1016\/j.ajhg.2008.05.015","journal-title":"Am J Hum Genet"},{"key":"ref54","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.11.001","article-title":"Rett syndrome and epilepsy: an update for child neurologists","volume":"48","author":"Dolce A","year":"2013","unstructured":"Dolce A, Ben-Zeev B, Naidu S, Kossoff EH. Rett syndrome and epilepsy: an update for child neurologists. Pediatr Neurol. 2013, 48:337-45. 10.1016\/j.pediatrneurol.2012.11.001","journal-title":"Pediatr Neurol"},{"key":"ref55","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-019-09793-5","article-title":"Treating Rett syndrome: from mouse models to human therapies","volume":"30","author":"Vashi N","year":"2019","unstructured":"Vashi N, Justice MJ. Treating Rett syndrome: from mouse models to human therapies. Mamm Genome. 2019, 30:90-110. 10.1007\/s00335-019-09793-5","journal-title":"Mamm Genome"},{"key":"ref56","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.186","article-title":"Clinical and biological progress over 50 years in Rett syndrome","volume":"13","author":"Leonard H","year":"2017","unstructured":"Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017, 13:37-51. 10.1038\/nrneurol.2016.186","journal-title":"Nat Rev Neurol"},{"key":"ref57","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-87","article-title":"Twenty years of surveillance in Rett syndrome: what does this tell us?","volume":"9","author":"Anderson A","year":"2014","unstructured":"Anderson A, Wong K, Jacoby P, Downs J, Leonard H. Twenty years of surveillance in Rett syndrome: what does this tell us?. Orphanet J Rare Dis. 2014, 9:87. 10.1186\/1750-1172-9-87","journal-title":"Orphanet J Rare Dis"},{"key":"ref58","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d6b852","article-title":"Epilepsy and the natural history of Rett syndrome","volume":"74","author":"Glaze DG","year":"2010","unstructured":"Glaze DG, Percy AK, Skinner S, et al.. Epilepsy and the natural history of Rett syndrome. Neurology. 2010, 74:909-12. 10.1212\/WNL.0b013e3181d6b852","journal-title":"Neurology"},{"key":"ref59","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12941","article-title":"Epilepsy in Rett syndrome--lessons from the Rett networked database","volume":"56","author":"Nissenkorn A","year":"2015","unstructured":"Nissenkorn A, Levy-Drummer RS, Bondi O, et al.. Epilepsy in Rett syndrome--lessons from the Rett networked database. Epilepsia. 2015, 56:569-76. 10.1111\/epi.12941","journal-title":"Epilepsia"},{"key":"ref60","doi-asserted-by":"publisher","DOI":"10.1080\/080352501750064842","article-title":"Epilepsy in a representative series of Rett syndrome","volume":"90","author":"Steffenburg U","year":"2001","unstructured":"Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr. 2001, 90:34-9. 10.1080\/080352501750064842","journal-title":"Acta Paediatr"},{"key":"ref61","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02597.x","article-title":"Epilepsy in Rett syndrome---the experience of a National Rett Center","volume":"51","author":"Nissenkorn A","year":"2010","unstructured":"Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B. Epilepsy in Rett syndrome---the experience of a National Rett Center. Epilepsia. 2010, 51:1252-8. 10.1111\/j.1528-1167.2010.02597.x","journal-title":"Epilepsia"},{"key":"ref62","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2010.06.051","article-title":"Epilepsy in Rett syndrome: clinical and genetic features","volume":"19","author":"Pintaudi M","year":"2010","unstructured":"Pintaudi M, Calevo MG, Vignoli A, et al.. Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy Behav. 2010, 19:296-300. 10.1016\/j.yebeh.2010.06.051","journal-title":"Epilepsy Behav"},{"key":"ref63","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2008.08.015","article-title":"Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome","volume":"119","author":"Buoni S","year":"2008","unstructured":"Buoni S, Zannolli R, Felice CD, et al.. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clin Neurophysiol. 2008, 119:2455-8. 10.1016\/j.clinph.2008.08.015","journal-title":"Clin Neurophysiol"},{"key":"ref64","doi-asserted-by":"publisher","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 B","year":"2011","unstructured":"Cardoza B, Clarke A, Wilcox J, et al.. Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure. 2011, 20:646-9. 10.1016\/j.seizure.2011.06.010","journal-title":"Seizure"},{"key":"ref65","doi-asserted-by":"publisher","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 RZ","year":"2001","unstructured":"Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet. 2001, 27:327-31. 10.1038\/85906","journal-title":"Nat Genet"},{"key":"ref66","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2008.05522.x","article-title":"Regulation of neural progenitor cell development in the nervous system","volume":"106","author":"Corbin JG","year":"2008","unstructured":"Corbin JG, Gaiano N, Juliano SL, Poluch S, Stancik E, Haydar TF. Regulation of neural progenitor cell development in the nervous system. J Neurochem. 2008, 106:2272-87. 10.1111\/j.1471-4159.2008.05522.x","journal-title":"J Neurochem"},{"key":"ref67","doi-asserted-by":"publisher","DOI":"10.1038\/85899","article-title":"A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome","volume":"27","author":"Guy J","year":"2001","unstructured":"Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001, 27:322-6. 10.1038\/85899","journal-title":"Nat Genet"},{"key":"ref68","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A0857","article-title":"Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study","volume":"29","author":"Carter JC","year":"2008","unstructured":"Carter JC, Lanham DC, Pham D, Bibat G, Naidu S, Kaufmann WE. Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. AJNR Am J Neuroradiol. 2008, 29:436-41. 10.3174\/ajnr.A0857","journal-title":"AJNR Am J Neuroradiol"},{"key":"ref69","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhv078","article-title":"Defects during MeCP2 null embryonic cortex development precede the onset of overt neurological symptoms","volume":"26","author":"Bedogni F","year":"2016","unstructured":"Bedogni F, Cobolli Gigli C, Pozzi D, et al.. Defects during MeCP2 null embryonic cortex development precede the onset of overt neurological symptoms. Cereb Cortex. 2016, 26:2517-29. 10.1093\/cercor\/bhv078","journal-title":"Cereb Cortex"},{"key":"ref70","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/6154080","article-title":"Developmental dynamics of Rett syndrome","volume":"2016","author":"Feldman D","year":"2016","unstructured":"Feldman D, Banerjee A, Sur M. Developmental dynamics of Rett syndrome. Neural Plast. 2016, 2016:6154080. 10.1155\/2016\/6154080","journal-title":"Neural Plast"},{"key":"ref71","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2011.01.061","article-title":"Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal","volume":"180","author":"Weng SM","year":"2011","unstructured":"Weng SM, McLeod F, Bailey ME, Cobb SR. Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal. Neuroscience. 2011, 180:314-21. 10.1016\/j.neuroscience.2011.01.061","journal-title":"Neuroscience"},{"key":"ref72","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25712","article-title":"Neurophysiological signatures of motor impairment in patients with Rett syndrome","volume":"87","author":"Bernardo P","year":"2020","unstructured":"Bernardo P, Cobb S, Coppola A, et al..  Neurophysiological signatures of motor impairment in patients with Rett syndrome. Ann Neurol. 2020, 87:763-73. 10.1002\/ana.25712","journal-title":"Ann Neurol"},{"key":"ref73","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-45635-9","article-title":"Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth","volume":"9","author":"Lozovaya N","year":"2019","unstructured":"Lozovaya N, Nardou R, Tyzio R, et al.. Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth. Sci Rep. 2019, 9:9276. 10.1038\/s41598-019-45635-9","journal-title":"Sci Rep"},{"key":"ref74","doi-asserted-by":"publisher","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 L","year":"2007","unstructured":"Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol. 2007, 11:310-7. 10.1016\/j.ejpn.2007.02.008","journal-title":"Eur J Paediatr Neurol"},{"key":"ref75","doi-asserted-by":"publisher","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 G","year":"2015","unstructured":"Calfa G, Li W, Rutherford JM, Pozzo-Miller L. Excitation\/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 of Mecp2 knockout mice. Hippocampus. 2015, 25:159-68. 10.1002\/hipo.22360","journal-title":"Hippocampus"},{"key":"ref76","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00379-10","article-title":"MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites","volume":"30","author":"Ghosh RP","year":"2010","unstructured":"Ghosh RP, Horowitz-Scherer RA, Nikitina T, Shlyakhtenko LS, Woodcock CL. MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites. Mol Cell Biol. 2010, 30:4656-70. 10.1128\/MCB.00379-10","journal-title":"Mol Cell Biol"},{"key":"ref77","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318213565e","article-title":"Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action","volume":"69","author":"Zahir FR","year":"2011","unstructured":"Zahir FR, Brown CJ. Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action. Pediatr Res. 2011, 69:92R-100R. 10.1203\/PDR.0b013e318213565e","journal-title":"Pediatr Res"},{"key":"ref78","doi-asserted-by":"publisher","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 VS","year":"2005","unstructured":"Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, Nelson SB. Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2005, 102:12560-5. 10.1073\/pnas.0506071102","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref79","doi-asserted-by":"publisher","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 L","year":"2009","unstructured":"Wood L, Gray NW, Zhou Z, Greenberg ME, Shepherd GM. Synaptic circuit abnormalities of motor-frontal layer 2\/3 pyramidal neurons in an RNA interference model of methyl-CpG-binding protein 2 deficiency. J Neurosci. 2009, 29:12440-8. 10.1523\/JNEUROSCI.3321-09.2009","journal-title":"J Neurosci"},{"key":"ref80","doi-asserted-by":"publisher","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 AP","year":"2016","unstructured":"Abdala AP, Toward MA, Dutschmann M, Bissonnette JM, Paton JF. Deficiency of GABAergic synaptic inhibition in the K\u00f6lliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome. J Physiol. 2016, 594:223-37. 10.1113\/JP270966","journal-title":"J Physiol"},{"key":"ref81","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.10.082","article-title":"Activity-dependent NR2B expression is mediated by MeCP2-dependent epigenetic regulation","volume":"377","author":"Lee S","year":"2008","unstructured":"Lee S, Kim W, Ham BJ, Chen W, Bear MF, Yoon BJ. Activity-dependent NR2B expression is mediated by MeCP2-dependent epigenetic regulation. Biochem Biophys Res Commun. 2008, 377:930-4. 10.1016\/j.bbrc.2008.10.082","journal-title":"Biochem Biophys Res Commun"},{"key":"ref82","doi-asserted-by":"publisher","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 S","year":"2012","unstructured":"Durand S, Patrizi A, Quast KB, et al.. NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2. Neuron. 2012, 76:1078-90. 10.1016\/j.neuron.2012.12.004","journal-title":"Neuron"},{"key":"ref83","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2015.05.018","article-title":"Cell-specific regulation of N-methyl-D-aspartate receptor maturation by Mecp2 in cortical circuits","volume":"79","author":"Mierau SB","year":"2016","unstructured":"Mierau SB, Patrizi A, Hensch TK, Fagiolini M. Cell-specific regulation of N-methyl-D-aspartate receptor maturation by Mecp2 in cortical circuits. Biol Psychiatry. 2016, 79:746-54. 10.1016\/j.biopsych.2015.05.018","journal-title":"Biol Psychiatry"},{"key":"ref84","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2019.01.028","article-title":"Regression in Rett syndrome: developmental pathways to its onset","volume":"98","author":"Einspieler C","year":"2019","unstructured":"Einspieler C, Marschik PB. Regression in Rett syndrome: developmental pathways to its onset. Neurosci Biobehav Rev. 2019, 98:320-32. 10.1016\/j.neubiorev.2019.01.028","journal-title":"Neurosci Biobehav Rev"},{"key":"ref85","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-009-0703-x","article-title":"Case report: retracing atypical development: a preserved speech variant of Rett syndrome","volume":"39","author":"Marschik PB","year":"2009","unstructured":"Marschik PB, Einspieler C, Oberle A, Laccone F, Prechtl HF. Case report: retracing atypical development: a preserved speech variant of Rett syndrome. J Autism Dev Disord. 2009, 39:958-61. 10.1007\/s10803-009-0703-x","journal-title":"J Autism Dev Disord"},{"key":"ref86","doi-asserted-by":"publisher","DOI":"10.21437\/Interspeech.2016-520","article-title":"Does she speak RTT? Towards an earlier identification of Rett syndrome through intelligent pre-linguistic vocalisation analysis","author":"Pokorny FB","year":"2016","unstructured":"Pokorny FB, Marschik PB, Einspieler C, Schuller B. Does she speak RTT? Towards an earlier identification of Rett syndrome through intelligent pre-linguistic vocalisation analysis. Proceed Interspeech. 2016, 1953-7. 10.21437\/Interspeech.2016-520","journal-title":"Proceed Interspeech"},{"key":"ref87","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2018.02.019","article-title":"Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome","volume":"82","author":"Pokorny FB","year":"2018","unstructured":"Pokorny FB, Bartl-Pokorny KD, Einspieler C, et al.. Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome. Res Dev Disabil. 2018, 82:109-19. 10.1016\/j.ridd.2018.02.019","journal-title":"Res Dev Disabil"},{"key":"ref88","doi-asserted-by":"publisher","DOI":"10.3109\/17518423.2013.783139","article-title":"Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome","volume":"17","author":"Marschik PB","year":"2014","unstructured":"Marschik PB, Vollmann R, Bartl-Pokorny KD, Green VA, van der Meer L, Wolin T, Einspieler C. Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome. Dev Neurorehabil. 2014, 17:284-90. 10.3109\/17518423.2013.783139","journal-title":"Dev Neurorehabil"},{"key":"ref89","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1104575","article-title":"Gross motor profile in rett syndrome as determined by video analysis","volume":"39","author":"Downs JA","year":"2008","unstructured":"Downs JA, Bebbington A, Jacoby P, et al.. Gross motor profile in rett syndrome as determined by video analysis. Neuropediatrics. 2008, 39:205-10. 10.1055\/s-0028-1104575","journal-title":"Neuropediatrics"},{"key":"ref90","doi-asserted-by":"publisher","DOI":"10.3109\/17518423.2013.837537","article-title":"Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development","volume":"17","author":"Marschik PB","year":"2014","unstructured":"Marschik PB, Bartl-Pokorny KD, Tager-Flusberg H, et al.. Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development. Dev Neurorehabil. 2014, 17:34-8. 10.3109\/17518423.2013.837537","journal-title":"Dev Neurorehabil"},{"key":"ref91","doi-asserted-by":"publisher","DOI":"10.1007\/s41252-017-0051-3","article-title":"Early vocal development in autism spectrum disorder, Rett syndrome, and fragile X syndrome: insights from studies using retrospective video analysis","volume":"2","author":"Roche L","year":"2018","unstructured":"Roche L, Zhang D, Bartl-Pokorny KD, et al.. Early vocal development in autism spectrum disorder, Rett syndrome, and fragile X syndrome: insights from studies using retrospective video analysis. Adv Neurodev Disord. 2018, 2:49-61. 10.1007\/s41252-017-0051-3","journal-title":"Adv Neurodev Disord"},{"key":"ref92","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2018.04.004","article-title":"Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper","volume":"82","author":"Zhang D","year":"2018","unstructured":"Zhang D, Roche L, Bartl-Pokorny KD, et al.. Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper. Res Dev Disabil. 2018, 82:95-108. 10.1016\/j.ridd.2018.04.004","journal-title":"Res Dev Disabil"},{"key":"ref93","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20051","article-title":"Prechtl's assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system","volume":"11","author":"Einspieler C","year":"2005","unstructured":"Einspieler C, Prechtl HF. Prechtl's assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system. Ment Retard Dev Disabil Res Rev. 2005, 11:61-7. 10.1002\/mrdd.20051","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"ref94","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979725","article-title":"Early clinical signs in the Rett disorder","volume":"26","author":"Kerr AM","year":"1995","unstructured":"Kerr AM. Early clinical signs in the Rett disorder. Neuropediatrics. 1995, 26:67-71. 10.1055\/s-2007-979725","journal-title":"Neuropediatrics"},{"key":"ref95","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22154","article-title":"Rett syndrome diagnostic criteria: lessons from the Natural History Study","volume":"68","author":"Percy AK","year":"2010","unstructured":"Percy AK, Neul JL, Glaze DG, et al.. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann Neurol. 2010, 68:951-5. 10.1002\/ana.22154","journal-title":"Ann Neurol"},{"key":"ref96","doi-asserted-by":"publisher","DOI":"10.1177\/146642409411400621","article-title":"Book Reviews\u202f: International Statistical Classification of Diseases and Related Health Problems 10th Revision, Vol 2. Instruction Manual. by World Health Organisation, 1993. 160 pp, Sw fr 40. Hardback. ISBN: 92-4-154420-1","volume":"114","author":"John HH","year":"1994","unstructured":"John HH. Book Reviews\u202f: International Statistical Classification of Diseases and Related Health Problems 10th Revision, Vol 2. Instruction Manual. by World Health Organisation, 1993. 160 pp, Sw fr 40. Hardback. ISBN: 92-4-154420-1. J R Soc Health. 1994, 114:339. 10.1177\/146642409411400621","journal-title":"J R Soc Health"},{"key":"ref97","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul JL","year":"2010","unstructured":"Neul JL, Kaufmann WE, Glaze DG, et al.. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010, 68:944-50. 10.1002\/ana.22124","journal-title":"Ann Neurol"},{"key":"ref98","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13153","article-title":"Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature","volume":"95","author":"Sch\u00f6newolf-Greulich B","year":"2019","unstructured":"Sch\u00f6newolf-Greulich B, Bisgaard AM, M\u00f8ller RS, et al.. Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clin Genet. 2019, 95:221-30. 10.1111\/cge.13153","journal-title":"Clin Genet"},{"key":"ref99","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.10.001","article-title":"The story of Rett syndrome: from clinic to neurobiology","volume":"56","author":"Chahrour M","year":"2007","unstructured":"Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007, 56:422-37. 10.1016\/j.neuron.2007.10.001","journal-title":"Neuron"},{"key":"ref100","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2016.03.1045","article-title":"N-methyl-D-aspartate receptors, ketamine, and Rett syndrome: something special on the road to treatments?","volume":"79","author":"Katz DM","year":"2016","unstructured":"Katz DM, Menniti FS, Mather RJ. N-methyl-D-aspartate receptors, ketamine, and Rett syndrome: something special on the road to treatments?. Biol Psychiatry. 2016, 79:710-2. 10.1016\/j.biopsych.2016.03.1045","journal-title":"Biol Psychiatry"},{"key":"ref101","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34367","article-title":"Medical care of adolescents and women with Rett syndrome: an Italian study","volume":"158A","author":"Vignoli A","year":"2012","unstructured":"Vignoli A, La Briola F, Peron A, et al.. Medical care of adolescents and women with Rett syndrome: an Italian study. Am J Med Genet A. 2012, 158A:13-8. 10.1002\/ajmg.a.34367","journal-title":"Am J Med Genet A"},{"key":"ref102","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31829e0b65","article-title":"Assessment and management of nutrition and growth in Rett syndrome","volume":"57","author":"Leonard H","year":"2013","unstructured":"Leonard H, Ravikumara M, Baikie G, et al.. Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr. 2013, 57:451-60. 10.1097\/MPG.0b013e31829e0b65","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref103","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2017.03.007","article-title":"Consideration of genetic diagnoses of developmental delay in children of consanguineous families","volume":"26","author":"Sadeghi S","year":"2018","unstructured":"Sadeghi S, Shevell M. Consideration of genetic diagnoses of developmental delay in children of consanguineous families. Semin Pediatr Neurol. 2018, 26:60-2. 10.1016\/j.spen.2017.03.007","journal-title":"Semin Pediatr Neurol"},{"key":"ref104","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2016.01.009","article-title":"Cognitive training modifies frequency EEG bands and neuropsychological measures in Rett syndrome","volume":"53-54","author":"Fabio RA","year":"2016","unstructured":"Fabio RA, Billeci L, Crifaci G, Troise E, Tortorella G, Pioggia G. Cognitive training modifies frequency EEG bands and neuropsychological measures in Rett syndrome. Res Dev Disabil. 2016, 53-54:73-85. 10.1016\/j.ridd.2016.01.009","journal-title":"Res Dev Disabil"},{"key":"ref105","doi-asserted-by":"publisher","DOI":"10.1080\/13668250120119626-1","article-title":"The use of assistive technology for symbol identification by children with Rett syndrome","volume":"27","author":"Hetzroni O","year":"2002","unstructured":"Hetzroni O, Rubin C, Konkol O. The use of assistive technology for symbol identification by children with Rett syndrome. J Intellect Dev Disabil. 2002, 27:57-71. 10.1080\/13668250120119626-1","journal-title":"J Intellect Dev Disabil"},{"key":"ref106","doi-asserted-by":"publisher","DOI":"10.1080\/09638280150504225","article-title":"Storybook-based communication intervention for girls with Rett syndrome and their mothers","volume":"23","author":"Koppenhaver DA","year":"2001","unstructured":"Koppenhaver DA, Erickson KA, Harris B, McLellan J, Skotko BG, Newton RA. Storybook-based communication intervention for girls with Rett syndrome and their mothers. Disabil Rehabil. 2001, 23:149-59. 10.1080\/09638280150504225","journal-title":"Disabil Rehabil"},{"key":"ref107","doi-asserted-by":"publisher","DOI":"10.1177\/001440290407000202","article-title":"Parent reading behaviors and communication outcomes in girls with Rett syndrome","volume":"70","author":"Skotko BG","year":"2004","unstructured":"Skotko BG, Koppenhaver DA, Erickson KA. Parent reading behaviors and communication outcomes in girls with Rett syndrome. Except Child. 2004, 70:145-66. 10.1177\/001440290407000202","journal-title":"Except Child"},{"key":"ref108","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2008.01.003","article-title":"The role of stereotypies in overselectivity process in Rett syndrome","volume":"30","author":"Fabio RA","year":"2009","unstructured":"Fabio RA, Giannatiempo S, Antonietti A, Budden S. The role of stereotypies in overselectivity process in Rett syndrome. Res Dev Disabil. 2009, 30:136-45. 10.1016\/j.ridd.2008.01.003","journal-title":"Res Dev Disabil"},{"key":"ref109","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2018.03.008","article-title":"Neurophysiological and cognitive effects of transcranial direct current stimulation in three girls with Rett Syndrome with chronic language impairments","volume":"76","author":"Fabio RA","year":"2018","unstructured":"Fabio RA, Gangemi A, Capri T, Budden S, Falzone A. Neurophysiological and cognitive effects of transcranial direct current stimulation in three girls with Rett Syndrome with chronic language impairments. Res Dev Disabil. 2018, 76:76-87. 10.1016\/j.ridd.2018.03.008","journal-title":"Res Dev Disabil"},{"key":"ref110","doi-asserted-by":"publisher","DOI":"10.1080\/09638280412331280280","article-title":"Facilitating communication in children with multiple disabilities: three case studies of girls with Rett syndrome","volume":"26","author":"Ryan D","year":"2004","unstructured":"Ryan D, McGregor F, Akermanis M, Southwell K, Ramke M, Woodyatt G. Facilitating communication in children with multiple disabilities: three case studies of girls with Rett syndrome. Disabil Rehabil. 2004, 26:1268-77. 10.1080\/09638280412331280280","journal-title":"Disabil Rehabil"},{"key":"ref111","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0812394106","article-title":"Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice","volume":"106","author":"Tropea D","year":"2009","unstructured":"Tropea D, Giacometti E, Wilson NR, et al.. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009, 106:2029-34. 10.1073\/pnas.0812394106","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref112","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007316","article-title":"Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome","volume":"92","author":"Glaze DG","year":"2019","unstructured":"Glaze DG, Neul JL, Kaufmann WE, et al.. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019, 92:e1912-25. 10.1212\/WNL.0000000000007316","journal-title":"Neurology"},{"key":"ref113","doi-asserted-by":"publisher","DOI":"10.1016\/j.cct.2022.106704","article-title":"Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome","volume":"114","author":"Neul JL","year":"2022","unstructured":"Neul JL, Percy AK, Benke TA, et al.. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022, 114:106704. 10.1016\/j.cct.2022.106704","journal-title":"Contemp Clin Trials"},{"key":"ref114","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-023-02398-1","article-title":"Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study","volume":"29","author":"Neul JL","year":"2023","unstructured":"Neul JL, Percy AK, Benke TA, et al.. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med. 2023, 29:1468-75. 10.1038\/s41591-023-02398-1","journal-title":"Nat Med"},{"key":"ref115","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2012.200","article-title":"Improved survival and reduced phenotypic severity following AAV9\/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice","volume":"21","author":"Gadalla KK","year":"2013","unstructured":"Gadalla KK, Bailey ME, Spike RC, et al.. Improved survival and reduced phenotypic severity following AAV9\/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. Mol Ther. 2013, 21:18-30. 10.1038\/mt.2012.200","journal-title":"Mol Ther"},{"key":"ref116","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1854-13.2013","article-title":"Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome","volume":"33","author":"Garg SK","year":"2013","unstructured":"Garg SK, Lioy DT, Cheval H, et al.. Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci. 2013, 33:13612-20. 10.1523\/JNEUROSCI.1854-13.2013","journal-title":"J Neurosci"},{"key":"ref117","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30410","article-title":"Rett syndrome in females with CTS hot spot deletions: a disorder profile","volume":"132A","author":"Smeets E","year":"2005","unstructured":"Smeets E, Terhal P, Casaer P, et al.. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A. 2005, 132A:117-20. 10.1002\/ajmg.a.30410","journal-title":"Am J Med Genet A"},{"key":"ref118","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1715124115","article-title":"A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders","volume":"115","author":"Carrette LL","year":"2018","unstructured":"Carrette LL, Wang CY, Wei C, Press W, Ma W, Kelleher RJ 3rd, Lee JT. A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders. Proc Natl Acad Sci U S A. 2018, 115:E668-75. 10.1073\/pnas.1715124115","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref119","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1803792115","article-title":"Pharmacological reactivation of inactive X-linked Mecp2 in cerebral cortical neurons of living mice","volume":"115","author":"Przanowski P","year":"2018","unstructured":"Przanowski P, Wasko U, Zheng Z, et al.. Pharmacological reactivation of inactive X-linked Mecp2 in cerebral cortical neurons of living mice. Proc Natl Acad Sci U S A. 2018, 115:7991-6. 10.1073\/pnas.1803792115","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref120","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-020-09332-3","article-title":"A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance","volume":"12","author":"Lee HM","year":"2020","unstructured":"Lee HM, Kuijer MB, Ruiz Blanes N, et al.. A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance. J Neurodev Disord. 2020, 12:29. 10.1186\/s11689-020-09332-3","journal-title":"J Neurodev Disord"},{"key":"ref121","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1413620111","article-title":"Genetic and pharmacological reactivation of the mammalian inactive X chromosome","volume":"111","author":"Bhatnagar S","year":"2014","unstructured":"Bhatnagar S, Zhu X, Ou J, et al.. Genetic and pharmacological reactivation of the mammalian inactive X chromosome. Proc Natl Acad Sci U S A. 2014, 111:12591-8. 10.1073\/pnas.1413620111","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref122","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12752","article-title":"Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model","volume":"21","author":"Vermudez SA","year":"2022","unstructured":"Vermudez SA, Gogliotti RG, Arthur B, et al.. Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model. Genes Brain Behav. 2022, 21:e12752. 10.1111\/gbb.12752","journal-title":"Genes Brain Behav"},{"key":"ref123","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90967","article-title":"Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes","volume":"127","author":"Lamonica JM","year":"2017","unstructured":"Lamonica JM, Kwon DY, Goffin D, et al.. Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. J Clin Invest. 2017, 127:1889-904. 10.1172\/JCI90967","journal-title":"J Clin Invest"},{"key":"ref124","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv030","article-title":"Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene","volume":"24","author":"Pitcher MR","year":"2015","unstructured":"Pitcher MR, Herrera JA, Buffington SA, et al.. Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. Hum Mol Genet. 2015, 24:2662-72. 10.1093\/hmg\/ddv030","journal-title":"Hum Mol Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/149189-rett-syndrome-a-tale-of-altered-genetics-synaptic-plasticity-and-neurodevelopmental-dynamics","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:02:54Z","timestamp":1707508974000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/149189-rett-syndrome-a-tale-of-altered-genetics-synaptic-plasticity-and-neurodevelopmental-dynamics"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,8]]},"references-count":124,"URL":"https:\/\/doi.org\/10.7759\/cureus.41555","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7,8]]}}}