{"id":"https://openalex.org/W1782586787","doi":"https://doi.org/10.3233/pep-2012-003","title":"Ring chromosome 20 epilepsy syndrome: An overview","display_name":"Ring chromosome 20 epilepsy syndrome: An overview","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W1782586787","doi":"https://doi.org/10.3233/pep-2012-003","mag":"1782586787"},"language":"en","primary_location":{"id":"mag:1782586787","doi":"https://doi.org/10.3233/pep-2012-003","is_oa":false,"landing_page_url":"https://content.iospress.com/articles/journal-of-pediatric-epilepsy/pep003","pdf_url":null,"source":{"id":"https://openalex.org/S2764998300","display_name":"Journal of Pediatric Epilepsy","issn_l":"2146-457X","issn":["2146-457X","2146-4588"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Journal of Pediatric Epilepsy","raw_type":null},"volume":null,"type":"article","indexed_in":[],"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/A5027862633","display_name":"Syed A. Hosain","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210146588","display_name":"The Bristol-Myers Squibb Children's Hospital","ror":"https://ror.org/050n8x383","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210146588"]},{"id":"https://openalex.org/I4405286694","display_name":"University of Medicine and Dentistry of New Jersey","ror":"https://ror.org/02tvvmk84","country_code":"US","type":"education","lineage":["https://openalex.org/I102322142","https://openalex.org/I4405286694"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Syed Hosain","raw_affiliation_strings":["Department of Pediatrics, Bristol-Myers Squibb Children's Hospital, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, New Brunswick, NJ, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Bristol-Myers Squibb Children's Hospital, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, New Brunswick, NJ, USA","institution_ids":["https://openalex.org/I4210146588","https://openalex.org/I4405286694"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049699006","display_name":"Laura Kathleen Conlin","orcid":"https://orcid.org/0000-0003-2330-8158","observed_orcids":["https://orcid.org/0000-0003-2330-8158"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura K. Conlin","raw_affiliation_strings":["Laboratory of CytoGenomics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of CytoGenomics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028020710","display_name":"Nancy Bettina Spinner","orcid":"https://orcid.org/0000-0001-8109-3648","observed_orcids":["https://orcid.org/0000-0001-8109-3648"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nancy B. Spinner","raw_affiliation_strings":["Laboratory of CytoGenomics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0001-8109-3648","affiliations":[{"raw_affiliation_string":"Laboratory of CytoGenomics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2281,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.59351707,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"01","issue":"01","first_page":"005","last_page":"010"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9800000190734863,"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":0.9800000190734863,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.017799999564886093,"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/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"}}],"keywords":[{"id":"https://openalex.org/keywords/ring-chromosome-20","display_name":"ring chromosome 20","score":0.9819999933242798},{"id":"https://openalex.org/keywords/complex-partial-epilepsy","display_name":"complex partial epilepsy","score":0.796999990940094},{"id":"https://openalex.org/keywords/nonconvulsive-status-epilepticus","display_name":"nonconvulsive status epilepticus","score":0.902999997138977},{"id":"https://openalex.org/keywords/drug-resistant-epilepsy","display_name":"drug-resistant epilepsy","score":0.7319999933242798},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.6119999885559082},{"id":"https://openalex.org/keywords/karyology","display_name":"karyology","score":0.6129999756813049},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.5260000228881836},{"id":"https://openalex.org/keywords/behavioral-problems","display_name":"behavioral problems","score":0.5839999914169312}],"concepts":[{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.8763552904129028},{"id":"https://openalex.org/C2781034694","wikidata":"https://www.wikidata.org/wiki/Q474261","display_name":"Ring chromosome","level":5,"score":0.6040604710578918},{"id":"https://openalex.org/C2778734009","wikidata":"https://www.wikidata.org/wiki/Q55785625","display_name":"Epilepsy syndromes","level":3,"score":0.5986364483833313},{"id":"https://openalex.org/C2777341932","wikidata":"https://www.wikidata.org/wiki/Q980709","display_name":"Status epilepticus","level":3,"score":0.5743042826652527},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.5049059987068176},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5037962794303894},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4650844931602478},{"id":"https://openalex.org/C2781099131","wikidata":"https://www.wikidata.org/wiki/Q744385","display_name":"Temporal lobe","level":3,"score":0.4507201313972473},{"id":"https://openalex.org/C2909874657","wikidata":"https://www.wikidata.org/wiki/Q656732","display_name":"Chromosomal Deletion","level":4,"score":0.4488601088523865},{"id":"https://openalex.org/C522805319","wikidata":"https://www.wikidata.org/wiki/Q179965","display_name":"Electroencephalography","level":2,"score":0.4428390860557556},{"id":"https://openalex.org/C2780623815","wikidata":"https://www.wikidata.org/wiki/Q1255956","display_name":"Dravet syndrome","level":3,"score":0.43130582571029663},{"id":"https://openalex.org/C2779979230","wikidata":"https://www.wikidata.org/wiki/Q5532415","display_name":"Generalized epilepsy","level":3,"score":0.4223836660385132},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.3292091190814972},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2958214282989502},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.29042279720306396},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.26940327882766724},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1664135456085205},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12428063154220581},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:1782586787","doi":"https://doi.org/10.3233/pep-2012-003","is_oa":false,"landing_page_url":"https://content.iospress.com/articles/journal-of-pediatric-epilepsy/pep003","pdf_url":null,"source":{"id":"https://openalex.org/S2764998300","display_name":"Journal of Pediatric Epilepsy","issn_l":"2146-457X","issn":["2146-457X","2146-4588"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Journal of Pediatric Epilepsy","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1791259621","https://openalex.org/W1927859782","https://openalex.org/W1972590950","https://openalex.org/W1974922719","https://openalex.org/W1983052138","https://openalex.org/W1986796514","https://openalex.org/W1995492219","https://openalex.org/W2011922723","https://openalex.org/W2024092699","https://openalex.org/W2026358935","https://openalex.org/W2027538079","https://openalex.org/W2053729857","https://openalex.org/W2059316856","https://openalex.org/W2063477390","https://openalex.org/W2083401254","https://openalex.org/W2090167586","https://openalex.org/W2093940630","https://openalex.org/W2126594232","https://openalex.org/W2148819859","https://openalex.org/W2150275918","https://openalex.org/W2410046156"],"related_works":["https://openalex.org/W3091661608","https://openalex.org/W2516025935","https://openalex.org/W2548402699","https://openalex.org/W1974922719","https://openalex.org/W2116044454","https://openalex.org/W3113045402","https://openalex.org/W2134962622","https://openalex.org/W918269118","https://openalex.org/W2088556740","https://openalex.org/W1980658139"],"abstract_inverted_index":{"The":[0],"ring":[1],"chromosome":[2,29],"20":[3],"[r(20)],":[4],"epilepsy":[5,11,55,101,116],"syndrome":[6,12,32,158],"is":[7,21,33,91,110,133,174,200,206],"a":[8,15,95],"relatively":[9,77],"under-diagnosed":[10],"that":[13],"has":[14],"striking":[16],"association":[17],"with":[18,24,57,97,177,217],"seizures,":[19,44],"which":[20],"not":[22,104],"seen":[23],"other":[25,54],"morphological":[26],"aberrations":[27],"of":[28,74,114,122,143,156,165,229,233],"20.":[30],"This":[31,72,146],"characterized":[34],"by":[35,214],"medically":[36],"intractable":[37,176],"complex":[38],"partial":[39],"epilepsy,":[40,230],"subtle":[41],"nocturnal":[42,185],"frontal":[43,178,192],"behavioral":[45],"problems":[46],"and":[47,66,76,141,152,184,205],"mild":[48],"mental":[49],"impairment.":[50],"In":[51],"contrast":[52],"to":[53,84,149],"syndromes":[56],"chromosomal":[58,89,215,224],"aberrations,":[59],"dysmorphism":[60],"(major":[61],"or":[62],"minor":[63],"congenital":[64],"malformations)":[65],"developmental":[67],"delays":[68],"are":[69,187,191],"rarely":[70,92],"reported.":[71],"lack":[73],"dysmorhism":[75],"normal":[78,201],"development":[79],"in":[80,86,94,127,162,172,202,226],"early":[81,99],"life":[82],"leads":[83],"delay":[85],"diagnosis.":[87],"Additionally":[88],"testing":[90],"considered":[93],"patient":[96],"severe":[98],"onset":[100],"who":[102],"does":[103],"have":[105,124,159],"dysmorphic":[106],"features,":[107],"but":[108],"this":[109,144,157],"the":[111,128,139,166],"usual":[112],"phenotype":[113],"r(20)":[115,123,173,234],"syndrome.":[117,145],"More":[118],"than":[119],"60":[120],"cases":[121,204,228,232],"been":[125,160],"reported":[126],"literature.":[129],"To":[130],"date":[131],"there":[132],"still":[134],"no":[135],"published":[136],"data":[137],"on":[138],"incidence":[140],"prevalence":[142],"disorder":[147],"appears":[148],"be":[150,212,237],"pan-ethnic":[151],"non-gender":[153],"specific.":[154],"Cases":[155],"identified":[161],"different":[163,169],"parts":[164],"world":[167],"involving":[168],"ethnicities.":[170],"Epilepsy":[171],"often":[175],"lobe":[179,193],"features.":[180],"Non-convulsive":[181],"status":[182],"epilepticus":[183],"seizures":[186],"frequently":[188],"noted":[189],"as":[190],"epileptiform":[194],"electroencephalography":[195],"abnormalities.":[196],"Structural":[197],"brain":[198],"imaging":[199],"most":[203],"non-contributory.":[207],"Definitive":[208],"diagnosis":[209],"can":[210],"only":[211],"made":[213],"analysis":[216],"mosaic":[218],"screening.":[219],"With":[220],"more":[221,231],"widespread":[222],"cytogenetic":[223],"karyotyping":[225],"non-etiological":[227],"will":[235],"undoubtedly":[236],"recognized.":[238]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-24T09:50:30.924529","created_date":"2016-06-24T00:00:00"}
