{"id":"https://openalex.org/W2005223902","doi":"https://doi.org/10.1177/1073858403260995","title":"Rett Syndrome: A Prototypical Neurodevelopmental Disorder","display_name":"Rett Syndrome: A Prototypical Neurodevelopmental Disorder","publication_year":2004,"publication_date":"2004-04-01","ids":{"openalex":"https://openalex.org/W2005223902","doi":"https://doi.org/10.1177/1073858403260995","mag":"2005223902","pmid":"https://pubmed.ncbi.nlm.nih.gov/15070486"},"language":"en","primary_location":{"id":"doi:10.1177/1073858403260995","doi":"https://doi.org/10.1177/1073858403260995","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1073858403260995","pdf_url":null,"source":{"id":"https://openalex.org/S103928886","display_name":"The Neuroscientist","issn_l":"1073-8584","issn":["1073-8584","1089-4098"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Neuroscientist","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2005223902"],"child_works_count":0,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5030148861","display_name":"Jeffrey Lorenz Neul","orcid":"https://orcid.org/0000-0002-5628-5872","observed_orcids":["https://orcid.org/0000-0002-5628-5872"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey L. Neul","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston","Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020701219","display_name":"Huda Yahya Zoghbi","orcid":"https://orcid.org/0000-0002-0700-3349","observed_orcids":["https://orcid.org/0000-0002-0700-3349"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Huda Y. Zoghbi","raw_affiliation_strings":["Departments of Pediatrics, Molecular and Human Genetics, Neurology, and Neuroscience and the Howard Hughes Medical Institute, Baylor College of Medicine, Houston,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Molecular and Human Genetics, Neurology, and Neuroscience and the Howard Hughes Medical Institute, Baylor College of Medicine, Houston,","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5020701219"],"corresponding_institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I181547552"],"apc_list":{"value":4400,"currency":"USD","value_usd":4400},"apc_paid":null,"fwci":1.3698,"has_fulltext":false,"cited_by_count":171,"citation_normalized_percentile":{"value":0.77741585,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"10","issue":"2","first_page":"118","last_page":"128"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rett-syndrome","display_name":"Rett syndrome","score":1.0},{"id":"https://openalex.org/keywords/mecp2","display_name":"MeCP2","score":0.9919999837875366},{"id":"https://openalex.org/keywords/mecp2-mutations","display_name":"MECP2 mutations","score":0.7630000114440918},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.902999997138977},{"id":"https://openalex.org/keywords/developmental-regression","display_name":"developmental regression","score":0.703000009059906},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9409999847412109},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.7059999704360962},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9100000262260437},{"id":"https://openalex.org/keywords/chromatin-regulation","display_name":"chromatin regulation","score":0.7089999914169312},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.7450000047683716},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.9739999771118164}],"concepts":[{"id":"https://openalex.org/C2777543196","wikidata":"https://www.wikidata.org/wiki/Q917357","display_name":"Rett syndrome","level":3,"score":0.9954972267150879},{"id":"https://openalex.org/C2778863441","wikidata":"https://www.wikidata.org/wiki/Q18028997","display_name":"MECP2","level":4,"score":0.9762559533119202},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.7798404693603516},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.5119010210037231},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.4942493736743927},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49044105410575867},{"id":"https://openalex.org/C2778691456","wikidata":"https://www.wikidata.org/wiki/Q535364","display_name":"Angelman syndrome","level":3,"score":0.4564620554447174},{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.4492751359939575},{"id":"https://openalex.org/C2778594975","wikidata":"https://www.wikidata.org/wiki/Q3087172","display_name":"Developmental disorder","level":3,"score":0.44392481446266174},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43746042251586914},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.41794252395629883},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.32699257135391235},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.27273768186569214},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.20452755689620972}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002659","descriptor_name":"Child Development Disorders, Pervasive","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D002659","descriptor_name":"Child Development Disorders, Pervasive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002868","descriptor_name":"Chromosomal Proteins, Non-Histone","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008958","descriptor_name":"Models, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012097","descriptor_name":"Repressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013569","descriptor_name":"Synapses","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015518","descriptor_name":"Rett Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D015518","descriptor_name":"Rett Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051783","descriptor_name":"Methyl-CpG-Binding Protein 2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1177/1073858403260995","doi":"https://doi.org/10.1177/1073858403260995","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1073858403260995","pdf_url":null,"source":{"id":"https://openalex.org/S103928886","display_name":"The Neuroscientist","issn_l":"1073-8584","issn":["1073-8584","1089-4098"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Neuroscientist","raw_type":"journal-article"},{"id":"pmid:15070486","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15070486","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":109,"referenced_works":["https://openalex.org/W38110762","https://openalex.org/W146097556","https://openalex.org/W1488115555","https://openalex.org/W1527640078","https://openalex.org/W1559742681","https://openalex.org/W1784857457","https://openalex.org/W1967452178","https://openalex.org/W1967673975","https://openalex.org/W1971284874","https://openalex.org/W1974322337","https://openalex.org/W1975791071","https://openalex.org/W1979707152","https://openalex.org/W1981084918","https://openalex.org/W1984855310","https://openalex.org/W1986193321","https://openalex.org/W1988663056","https://openalex.org/W1988816781","https://openalex.org/W1989825881","https://openalex.org/W1992608831","https://openalex.org/W1995470989","https://openalex.org/W1997286592","https://openalex.org/W2003710817","https://openalex.org/W2004747469","https://openalex.org/W2013026045","https://openalex.org/W2013655994","https://openalex.org/W2014538187","https://openalex.org/W2014640199","https://openalex.org/W2015353463","https://openalex.org/W2015556634","https://openalex.org/W2017564246","https://openalex.org/W2019264057","https://openalex.org/W2019474060","https://openalex.org/W2025292398","https://openalex.org/W2029607972","https://openalex.org/W2031119093","https://openalex.org/W2032223619","https://openalex.org/W2032474463","https://openalex.org/W2033609439","https://openalex.org/W2034432700","https://openalex.org/W2035412136","https://openalex.org/W2038225819","https://openalex.org/W2040914733","https://openalex.org/W2040952198","https://openalex.org/W2045749216","https://openalex.org/W2046165746","https://openalex.org/W2053049393","https://openalex.org/W2055463089","https://openalex.org/W2057810172","https://openalex.org/W2058016184","https://openalex.org/W2059180147","https://openalex.org/W2061239440","https://openalex.org/W2061382200","https://openalex.org/W2062138338","https://openalex.org/W2063840478","https://openalex.org/W2064172549","https://openalex.org/W2064352628","https://openalex.org/W2071255650","https://openalex.org/W2073680886","https://openalex.org/W2074260612","https://openalex.org/W2075779454","https://openalex.org/W2076850467","https://openalex.org/W2081713212","https://openalex.org/W2083421199","https://openalex.org/W2084550269","https://openalex.org/W2085170165","https://openalex.org/W2086847281","https://openalex.org/W2090051505","https://openalex.org/W2090596119","https://openalex.org/W2091738825","https://openalex.org/W2099667919","https://openalex.org/W2100414555","https://openalex.org/W2103519918","https://openalex.org/W2106556368","https://openalex.org/W2107005658","https://openalex.org/W2109228085","https://openalex.org/W2110618683","https://openalex.org/W2110920216","https://openalex.org/W2112990976","https://openalex.org/W2113359311","https://openalex.org/W2113595463","https://openalex.org/W2114249762","https://openalex.org/W2120396692","https://openalex.org/W2121136947","https://openalex.org/W2123739801","https://openalex.org/W2124161234","https://openalex.org/W2125147395","https://openalex.org/W2127311839","https://openalex.org/W2128855322","https://openalex.org/W2131090755","https://openalex.org/W2132165212","https://openalex.org/W2136717975","https://openalex.org/W2137144674","https://openalex.org/W2137719949","https://openalex.org/W2139382864","https://openalex.org/W2142772281","https://openalex.org/W2150171373","https://openalex.org/W2153326537","https://openalex.org/W2153900602","https://openalex.org/W2153915883","https://openalex.org/W2161098391","https://openalex.org/W2163540024","https://openalex.org/W2164496135","https://openalex.org/W2165372186","https://openalex.org/W2166972019","https://openalex.org/W2168814517","https://openalex.org/W2172197806","https://openalex.org/W2326953958","https://openalex.org/W4237380280","https://openalex.org/W4237795666"],"related_works":["https://openalex.org/W2069466371","https://openalex.org/W2064172549","https://openalex.org/W1485117464","https://openalex.org/W1998297242","https://openalex.org/W2979529717","https://openalex.org/W2090246666","https://openalex.org/W4249047673","https://openalex.org/W1559742681","https://openalex.org/W2149594077","https://openalex.org/W7095330453"],"abstract_inverted_index":{"Rett":[0,32,80,111,117,135],"syndrome,":[1],"one":[2],"of":[3,7,28,30,65,91,104,110,116,147],"the":[4,16,39,62,114,141],"leading":[5],"causes":[6],"mental":[8],"retardation":[9],"and":[10,50,55,86,94,107,144],"developmental":[11,19],"regression":[12],"in":[13,38,68,79,92,95],"girls,":[14],"is":[15,70,137],"first":[17],"pervasive":[18],"disorder":[20],"with":[21,122],"a":[22,126,138],"known":[23],"genetic":[24],"cause.":[25],"The":[26],"majority":[27],"cases":[29],"sporadic":[31],"syndrome":[33,81,118,136],"are":[34],"caused":[35],"by":[36],"mutations":[37,67],"gene":[40,53],"encoding":[41],"methyl-CpG-binding":[42],"protein":[43],"2":[44],"(MeCP2).":[45],"MeCP2":[46,105],"binds":[47],"methylated":[48],"DNA":[49],"likely":[51],"regulates":[52],"expression":[54],"chromatin":[56],"structure.":[57],"Genotype/phenotype":[58],"analysis":[59,103,146],"revealed":[60],"that":[61,101],"phenotypic":[63],"spectrum":[64],"MECP2":[66],"humans":[69],"broader":[71],"than":[72],"initially":[73],"suspected:":[74],"Mutations":[75],"have":[76],"been":[77,99],"discovered":[78],"variants,":[82],"mentally":[83],"retarded":[84],"males,":[85],"autistic":[87],"children.":[88],"A":[89],"variety":[90],"vivo":[93],"vitro":[96],"models":[97],"has":[98],"developed":[100],"allow":[102],"function":[106],"pathogenic":[108,128],"studies":[109],"syndrome.":[112],"Because":[113],"neuropathology":[115],"shares":[119],"certain":[120],"features":[121],"other":[123],"neurodevelopmental":[124,148],"disorders,":[125],"common":[127],"process":[129],"may":[130],"underlie":[131],"these":[132],"disorders.":[133,149],"Thus,":[134],"prototype":[139],"for":[140],"genetic,":[142],"molecular,":[143],"neurobiological":[145]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":12},{"year":2014,"cited_by_count":10},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":8}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}