{"id":"https://openalex.org/W2338814967","doi":"https://doi.org/10.1186/s13023-016-0418-y","title":"Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome","display_name":"Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome","publication_year":2016,"publication_date":"2016-04-14","ids":{"openalex":"https://openalex.org/W2338814967","doi":"https://doi.org/10.1186/s13023-016-0418-y","mag":"2338814967","pmid":"https://pubmed.ncbi.nlm.nih.gov/27080038","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4832563"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-016-0418-y","doi":"https://doi.org/10.1186/s13023-016-0418-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-016-0418-y","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-016-0418-y","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-016-0418-y","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062268257","display_name":"Meghana Mangatt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Meghana Mangatt","raw_affiliation_strings":["School of Anatomy, Physiology & Human Biology, the University of Western Australia, Perth, WA, Australia","Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Anatomy, Physiology & Human Biology, the University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I177877127"]},{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031126146","display_name":"Kingsley Wong","orcid":"https://orcid.org/0000-0001-5178-6080","observed_orcids":["https://orcid.org/0000-0001-5178-6080","https://orcid.org/0000-0001-9712-8585","https://orcid.org/0000-0002-1648-1414"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Kingsley Wong","raw_affiliation_strings":["Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110467886","display_name":"Barbara J Anderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Barbara Anderson","raw_affiliation_strings":["Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031819783","display_name":"Amy Epstein","orcid":"https://orcid.org/0000-0003-4441-0901","observed_orcids":["https://orcid.org/0000-0003-4441-0901"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Amy Epstein","raw_affiliation_strings":["Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081369312","display_name":"Stuart I. Hodgetts","orcid":"https://orcid.org/0000-0002-3318-0410","observed_orcids":["https://orcid.org/0000-0002-3318-0410"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I4210144648","display_name":"Perron Institute for Neurological and Translational Science","ror":"https://ror.org/04yn72m09","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210144648"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Stuart Hodgetts","raw_affiliation_strings":["School of Anatomy, Physiology & Human Biology, the University of Western Australia, Perth, WA, Australia","Western Australian Neuroscience Research Institute, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Anatomy, Physiology & Human Biology, the University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I177877127"]},{"raw_affiliation_string":"Western Australian Neuroscience Research Institute, Perth, WA, Australia","institution_ids":["https://openalex.org/I4210144648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062515759","display_name":"Helen Leonard","orcid":"https://orcid.org/0000-0001-6405-5834","observed_orcids":["https://orcid.org/0000-0001-6405-5834","https://orcid.org/0000-0002-3733-5678","https://orcid.org/0000-0003-4148-6281"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Helen Leonard","raw_affiliation_strings":["Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia. helen.leonard@telethonkids.org.au","Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia. helen.leonard@telethonkids.org.au","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]},{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045593878","display_name":"Jenny Anne Downs","orcid":"https://orcid.org/0000-0001-7358-9037","observed_orcids":["https://orcid.org/0000-0001-7358-9037"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I205640436","display_name":"Curtin University","ror":"https://ror.org/02n415q13","country_code":"AU","type":"education","lineage":["https://openalex.org/I205640436"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Jenny Downs","raw_affiliation_strings":["School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia","Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia","institution_ids":["https://openalex.org/I205640436"]},{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5062515759"],"corresponding_institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":6.7085,"has_fulltext":true,"cited_by_count":131,"citation_normalized_percentile":{"value":0.9740304,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"11","issue":"1","first_page":"39","last_page":"39"},"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/T10094","display_name":"Epilepsy research and treatment","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health 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":0.996999979019165},{"id":"https://openalex.org/keywords/comorbidity","display_name":"comorbidities","score":0.9610000252723694},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.9629999995231628},{"id":"https://openalex.org/keywords/gastrointestinal-complaints","display_name":"gastrointestinal problems","score":0.9679999947547913},{"id":"https://openalex.org/keywords/feeding-difficulties","display_name":"feeding difficulties","score":0.9850000143051147},{"id":"https://openalex.org/keywords/sleep-disturbance","display_name":"sleep disorders","score":0.7900000214576721},{"id":"https://openalex.org/keywords/respiratory-problems","display_name":"respiratory problems","score":0.9929999709129333},{"id":"https://openalex.org/keywords/scoliosis","display_name":"scoliosis","score":1.0},{"id":"https://openalex.org/keywords/genotypes","display_name":"genotypes","score":0.5569999814033508},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.8489999771118164},{"id":"https://openalex.org/keywords/rare-genetic-disorders","display_name":"rare genetic disorders","score":0.3449999988079071}],"concepts":[{"id":"https://openalex.org/C2777543196","wikidata":"https://www.wikidata.org/wiki/Q917357","display_name":"Rett syndrome","level":3,"score":0.906108021736145},{"id":"https://openalex.org/C2779159551","wikidata":"https://www.wikidata.org/wiki/Q1414874","display_name":"Comorbidity","level":2,"score":0.6595773100852966},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.596516489982605},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.528626561164856},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.5169567465782166},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.45259925723075867},{"id":"https://openalex.org/C2778863441","wikidata":"https://www.wikidata.org/wiki/Q18028997","display_name":"MECP2","level":4,"score":0.4446888864040375},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3543078303337097},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3197261691093445},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11060267686843872},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.10195580124855042},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":"D015518","descriptor_name":"Rett Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015518","descriptor_name":"Rett Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D051783","descriptor_name":"Methyl-CpG-Binding Protein 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051783","descriptor_name":"Methyl-CpG-Binding Protein 2","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D053208","descriptor_name":"Kaplan-Meier Estimate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s13023-016-0418-y","doi":"https://doi.org/10.1186/s13023-016-0418-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-016-0418-y","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-016-0418-y","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4832563","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4832563","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet J Rare Dis","raw_type":"Text"},{"id":"pmid:27080038","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27080038","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":"Orphanet journal of rare diseases","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire/a7dabd14-9342-46f7-b756-8cc8937a373d","doi":null,"is_oa":true,"landing_page_url":"https://research-repository.uwa.edu.au/en/publications/a7dabd14-9342-46f7-b756-8cc8937a373d","pdf_url":null,"source":{"id":"https://openalex.org/S4306402492","display_name":"UWA Profiles and Research Repository (UWA)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mangatt, M, Wong, K, Anderson, B, Epstein, A, Hodgetts, S, Leonard, H & Downs, J 2016, 'Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome', Orphanet Journal of Rare Diseases, vol. 11, no. 1, pp. 39. https://doi.org/10.1186/s13023-016-0418-y","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:espace.curtin.edu.au:20.500.11937/51464","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/20.500.11937/51464","pdf_url":null,"source":{"id":"https://openalex.org/S4306401790","display_name":"eSpace (Curtin University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205640436","host_organization_name":"Curtin University","host_organization_lineage":["https://openalex.org/I205640436"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1186/s13023-016-0418-y","doi":"https://doi.org/10.1186/s13023-016-0418-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-016-0418-y","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-016-0418-y","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320306812","display_name":"International Rett Syndrome Foundation","ror":"https://ror.org/00e7vz537"},{"id":"https://openalex.org/F4320326223","display_name":"International Foundation for CDKL5 Research","ror":"https://ror.org/05tqq9v14"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2338814967.pdf","grobid_xml":"https://content.openalex.org/works/W2338814967.grobid-xml"},"referenced_works_count":55,"referenced_works":["https://openalex.org/W3811691","https://openalex.org/W1559742681","https://openalex.org/W1930985428","https://openalex.org/W1964895339","https://openalex.org/W1967698591","https://openalex.org/W1975779612","https://openalex.org/W1976344723","https://openalex.org/W1981913255","https://openalex.org/W1986659938","https://openalex.org/W1987499699","https://openalex.org/W1990195559","https://openalex.org/W2002038036","https://openalex.org/W2004348408","https://openalex.org/W2011397887","https://openalex.org/W2013753414","https://openalex.org/W2016237147","https://openalex.org/W2018414777","https://openalex.org/W2021012134","https://openalex.org/W2022544233","https://openalex.org/W2023661767","https://openalex.org/W2026565514","https://openalex.org/W2034720571","https://openalex.org/W2041721033","https://openalex.org/W2044926089","https://openalex.org/W2045149050","https://openalex.org/W2048312460","https://openalex.org/W2049323625","https://openalex.org/W2062620134","https://openalex.org/W2064940379","https://openalex.org/W2066619092","https://openalex.org/W2066779634","https://openalex.org/W2076825430","https://openalex.org/W2076981900","https://openalex.org/W2080019131","https://openalex.org/W2096774588","https://openalex.org/W2096845976","https://openalex.org/W2101752858","https://openalex.org/W2108864829","https://openalex.org/W2119672149","https://openalex.org/W2122019190","https://openalex.org/W2125677514","https://openalex.org/W2129187190","https://openalex.org/W2130614276","https://openalex.org/W2135126450","https://openalex.org/W2144465082","https://openalex.org/W2151275022","https://openalex.org/W2152754204","https://openalex.org/W2160533950","https://openalex.org/W2166030842","https://openalex.org/W2167062374","https://openalex.org/W2171845442","https://openalex.org/W2315875753","https://openalex.org/W2331026647","https://openalex.org/W4237271357","https://openalex.org/W4251014840"],"related_works":["https://openalex.org/W2076825430","https://openalex.org/W2212834242","https://openalex.org/W3036169891","https://openalex.org/W7164151795","https://openalex.org/W2940973785","https://openalex.org/W1464951343","https://openalex.org/W2410830642","https://openalex.org/W7095542955","https://openalex.org/W4387949339","https://openalex.org/W1990195559"],"abstract_inverted_index":{"BACKGROUND:":[0],"Initially":[1],"described":[2],"as":[3,18],"an":[4,19,309],"early":[5],"onset":[6,86],"seizure":[7],"variant":[8],"of":[9,31,62,64,141,195,236,271,291],"Rett":[10,94,103,118,253,301],"syndrome,":[11,302],"the":[12,28,57,99,108,116,131,139,148,151,174,178,182,189,205,248,272,279,289,296,304],"CDKL5":[13,100,110,206,249,273,297,307],"disorder":[14,61,101,207,250,274,298,311],"is":[15,24,40,308],"now":[16],"considered":[17],"independent":[20,310],"entity.":[21],"However,":[22],"little":[23],"currently":[25],"known":[26],"about":[27],"full":[29],"spectrum":[30],"comorbidities":[32,63],"that":[33,306],"affect":[34],"these":[35],"patients":[36],"and":[37,72,75,77,82,85,102,115,125,138,150,181,202,211,218,234,241,257,299],"available":[38,282],"literature":[39],"limited":[41],"to":[42,49,55,129,172,187,216,283],"small":[43],"case":[44],"series.":[45],"This":[46,264],"study":[47,265],"aimed":[48],"use":[50],"a":[51,267],"large":[52],"international":[53],"sample":[54,281],"examine":[56],"prevalence":[58,140,235],"in":[59,93,204,247,252,288,295,300],"this":[60],"epilepsy,":[65,197],"gastrointestinal":[66],"problems":[67,74,220,240,259],"including":[68],"feeding":[69],"difficulties,":[70],"sleep":[71,219,242],"respiratory":[73,200,217,258],"scoliosis":[76,203,256],"their":[78],"relationships":[79,132,230],"with":[80,90,163,209,312],"age":[81,134,210],"genotype.":[83],"Prevalence":[84],"were":[87,105,157,213,244,260,286],"also":[88],"compared":[89],"those":[91],"occurring":[92,294],"syndrome.":[95],"METHODS:":[96],"Data":[97],"for":[98,177],"syndrome":[104,119,254],"sourced":[106],"from":[107,147,155],"International":[109],"Disorder":[111],"Database":[112,120],"(ICDD),":[113],"InterRett":[114],"Australian":[117],"(ARSD).":[121],"Logistic":[122],"regression":[123],"(multivariate":[124],"univariate)":[126],"was":[127,170,185],"used":[128,171,186],"analyse":[130],"between":[133,231],"group,":[135],"mutation":[136,232],"type":[137],"various":[142],"comorbidities.":[143,237],"Binary":[144],"longitudinal":[145],"data":[146,154],"ARSD":[149],"equivalent":[152],"cross-sectional":[153],"ICDD":[156],"examined":[158],"using":[159,278],"generalized":[160,164],"linear":[161],"models":[162],"estimating":[165],"equations.":[166],"The":[167,193],"Kaplan-Meier":[168],"method":[169],"estimate":[173],"failure":[175],"function":[176],"two":[179,190],"disorders":[180],"log-rank":[183],"test":[184],"compare":[188],"functions.":[191],"RESULTS:":[192],"likelihood":[194],"experiencing":[196],"GI":[198,239],"problems,":[199,201],"increased":[208],"males":[212],"more":[214,245],"vulnerable":[215],"than":[221,251,275],"females.":[222],"We":[223],"did":[224],"not":[225],"identify":[226],"any":[227],"statistically":[228],"significant":[229],"group":[233],"Epilepsy,":[238],"abnormalities":[243],"common":[246],"whilst":[255],"less":[261],"prevalent.":[262],"CONCLUSION:":[263],"captured":[266],"much":[268],"clearer":[269],"picture":[270],"previously":[276],"possible":[277],"largest":[280],"date.":[284],"There":[285],"differences":[287],"presentation":[290],"clinical":[292],"features":[293],"reinforcing":[303],"concept":[305],"its":[313],"own":[314],"distinctive":[315],"characteristics.":[316]},"counts_by_year":[{"year":2026,"cited_by_count":11},{"year":2025,"cited_by_count":16},{"year":2024,"cited_by_count":21},{"year":2023,"cited_by_count":12},{"year":2022,"cited_by_count":13},{"year":2021,"cited_by_count":15},{"year":2020,"cited_by_count":11},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":10},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}
