{"id":"https://openalex.org/W2096948975","doi":"https://doi.org/10.1177/0883073809357361","title":"Trisomy 8 Mosaicism and Favorable Outcome After Treatment of Infantile Spasms: Case Report","display_name":"Trisomy 8 Mosaicism and Favorable Outcome After Treatment of Infantile Spasms: Case Report","publication_year":2010,"publication_date":"2010-05-20","ids":{"openalex":"https://openalex.org/W2096948975","doi":"https://doi.org/10.1177/0883073809357361","mag":"2096948975","pmid":"https://pubmed.ncbi.nlm.nih.gov/20489041"},"language":"en","primary_location":{"id":"doi:10.1177/0883073809357361","doi":"https://doi.org/10.1177/0883073809357361","is_oa":false,"landing_page_url":"https://doi.org/10.1177/0883073809357361","pdf_url":null,"source":{"id":"https://openalex.org/S70982952","display_name":"Journal of Child Neurology","issn_l":"0883-0738","issn":["0883-0738","1702-6075","1708-8283","1708-8828"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","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":"Journal of Child Neurology","raw_type":"journal-article"},"volume":null,"type":"article","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/A5085435322","display_name":"Anita Datta","orcid":"https://orcid.org/0000-0001-7620-4868","observed_orcids":["https://orcid.org/0000-0001-7620-4868"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anita Datta","raw_affiliation_strings":["Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts","Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027443967","display_name":"Jonathan D. Picker","orcid":"https://orcid.org/0000-0002-4479-6202","observed_orcids":["https://orcid.org/0000-0002-4479-6202"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan Picker","raw_affiliation_strings":["Division of Genetics, Department of Medicine, Children's Hospital Boston, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics, Department of Medicine, Children's Hospital Boston, Boston, Massachusetts","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007945051","display_name":"Alexander Rotenberg","orcid":"https://orcid.org/0000-0002-6495-5928","observed_orcids":["https://orcid.org/0000-0002-6495-5928"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Alexander Rotenberg","raw_affiliation_strings":["Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts,","institution_ids":["https://openalex.org/I1288882113"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5007945051"],"corresponding_institution_ids":["https://openalex.org/I1288882113"],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":null,"fwci":0.436,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.68661647,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"25","issue":"10","first_page":"1275","last_page":"1277"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9970999956130981,"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"}},"topics":[{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9970999956130981,"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/T12229","display_name":"Pharmacological Effects and Toxicity Studies","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":9.999999747378752e-05,"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/constitutional-mosaicism","display_name":"constitutional mosaicism","score":0.7360000014305115},{"id":"https://openalex.org/keywords/infantile-spasms","display_name":"infantile spasms","score":0.996999979019165},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.574999988079071},{"id":"https://openalex.org/keywords/acth","display_name":"ACTH","score":0.8859999775886536},{"id":"https://openalex.org/keywords/clonazepam","display_name":"clonazepam","score":0.996999979019165},{"id":"https://openalex.org/keywords/seizure-freedom","display_name":"seizure freedom","score":0.3179999887943268},{"id":"https://openalex.org/keywords/chromosomal-mosaicism","display_name":"chromosomal mosaicism","score":0.6000000238418579}],"concepts":[{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.6149778962135315},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5060800909996033},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4998586177825928},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.22243312001228333},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19528859853744507}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024182","descriptor_name":"Uniparental Disomy","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D024182","descriptor_name":"Uniparental Disomy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1177/0883073809357361","doi":"https://doi.org/10.1177/0883073809357361","is_oa":false,"landing_page_url":"https://doi.org/10.1177/0883073809357361","pdf_url":null,"source":{"id":"https://openalex.org/S70982952","display_name":"Journal of Child Neurology","issn_l":"0883-0738","issn":["0883-0738","1702-6075","1708-8283","1708-8828"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","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":"Journal of Child Neurology","raw_type":"journal-article"},{"id":"pmid:20489041","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20489041","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":"Journal of child neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.5099999904632568,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1519911583","https://openalex.org/W1529331610","https://openalex.org/W1964938418","https://openalex.org/W1969981566","https://openalex.org/W1975415216","https://openalex.org/W1993717112","https://openalex.org/W2010800868","https://openalex.org/W2055016244","https://openalex.org/W2064953069","https://openalex.org/W2066275262","https://openalex.org/W2086529816","https://openalex.org/W2094547582","https://openalex.org/W2150297877","https://openalex.org/W2151812794","https://openalex.org/W2418162995","https://openalex.org/W6800340277"],"related_works":["https://openalex.org/W7097711378","https://openalex.org/W2429815146","https://openalex.org/W3021017332","https://openalex.org/W3184410092","https://openalex.org/W7034678568","https://openalex.org/W2411172793","https://openalex.org/W2082777479","https://openalex.org/W2461382753","https://openalex.org/W2343307620","https://openalex.org/W2758761663"],"abstract_inverted_index":{"Constitutional":[0],"mosaic":[1,104],"trisomy":[2,105],"8":[3,106],"syndrome":[4,107],"occurs":[5],"in":[6],"approximately":[7],"1":[8],"of":[9,32,67,78,99],"35":[10],"000":[11],"live":[12],"births.":[13],"Clinically,":[14],"it":[15],"has":[16,35],"a":[17,97,100],"variable":[18],"presentation.":[19],"Some":[20],"patients":[21],"are":[22,41],"asymptomatic,":[23],"while":[24],"others":[25],"have":[26,87],"multisystemic":[27],"involvement.":[28],"The":[29],"overall":[30],"incidence":[31],"neurological":[33,44],"abnormalities":[34],"not":[36,88],"been":[37,89],"reported,":[38],"but":[39],"seizures":[40,63],"among":[42],"the":[43,65,82],"symptoms":[45],"associated":[46],"with":[47,64,102,117],"this":[48],"condition.":[49],"Previous":[50],"reports":[51],"describe":[52],"astatic":[53],"seizures,":[54,57,60],"complex":[55],"partial":[56],"generalized":[58],"tonic-clonic":[59],"and":[61,81,108,120],"absence":[62],"age":[66],"onset":[68],"varying":[69],"from":[70],"3":[71],"months":[72],"to":[73,85,91],"early":[74],"childhood.":[75],"However,":[76],"instances":[77],"infantile":[79,109],"spasms":[80],"patients'":[83],"response":[84],"treatment":[86,116],"reported":[90],"our":[92],"knowledge.":[93],"Accordingly,":[94],"we":[95],"report":[96],"case":[98],"patient":[101],"constitutional":[103],"spasms,":[110],"who":[111],"became":[112],"seizure":[113],"free":[114],"after":[115],"adrencorticotropic":[118],"hormone":[119],"clonazepam.":[121]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
