{"id":"https://openalex.org/W4386830463","doi":"https://doi.org/10.1177/09727531231185224","title":"The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome","display_name":"The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome","publication_year":2023,"publication_date":"2023-09-18","ids":{"openalex":"https://openalex.org/W4386830463","doi":"https://doi.org/10.1177/09727531231185224","pmid":"https://pubmed.ncbi.nlm.nih.gov/40026328","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11869245"},"language":"en","primary_location":{"id":"doi:10.1177/09727531231185224","doi":"https://doi.org/10.1177/09727531231185224","is_oa":true,"landing_page_url":"https://doi.org/10.1177/09727531231185224","pdf_url":null,"source":{"id":"https://openalex.org/S22816821","display_name":"Annals of Neurosciences","issn_l":"0972-7531","issn":["0972-7531","0976-3260"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","poland-40","russia-white-list-3"],"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurosciences","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W4386830463"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1177/09727531231185224","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036460819","display_name":"Madhan Srinivasamurthy","orcid":"https://orcid.org/0000-0003-4740-649X","observed_orcids":["https://orcid.org/0000-0003-4740-649X"]},"institutions":[{"id":"https://openalex.org/I178319760","display_name":"Kuvempu University","ror":"https://ror.org/014arsg56","country_code":"IN","type":"education","lineage":["https://openalex.org/I178319760"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Madhan Shrinivasamurthy","raw_affiliation_strings":["Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India"],"raw_orcid":"https://orcid.org/0000-0003-4740-649X","affiliations":[{"raw_affiliation_string":"Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India","institution_ids":["https://openalex.org/I178319760"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061233532","display_name":"Shreeshail V. Benakanal","orcid":"https://orcid.org/0000-0001-7259-8070","observed_orcids":["https://orcid.org/0000-0001-7259-8070"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shreeshail V Benakanal","raw_affiliation_strings":["Department of Paediatrics, Shivamogga Institute of Medical Sciences, Shivamogga, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Shivamogga Institute of Medical Sciences, Shivamogga, Karnataka, India","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025119701","display_name":"Kakanahalli Nagaraj","orcid":"https://orcid.org/0000-0002-3516-0560","observed_orcids":["https://orcid.org/0000-0002-3516-0560"]},"institutions":[{"id":"https://openalex.org/I178319760","display_name":"Kuvempu University","ror":"https://ror.org/014arsg56","country_code":"IN","type":"education","lineage":["https://openalex.org/I178319760"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Nagaraj Kakanahalli","raw_affiliation_strings":["Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India","institution_ids":["https://openalex.org/I178319760"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5025119701"],"corresponding_institution_ids":["https://openalex.org/I178319760"],"apc_list":{"value":900,"currency":"USD","value_usd":900},"apc_paid":{"value":900,"currency":"USD","value_usd":900},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"32","issue":"1","first_page":"38","last_page":"46"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.6439999938011169,"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":0.6439999938011169,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.16060000658035278,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.10130000114440918,"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/clinical-phenotype","display_name":"clinical phenotype","score":0.8529999852180481},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7549999952316284},{"id":"https://openalex.org/keywords/hydrocephalus","display_name":"hydrocephalus","score":0.9750000238418579},{"id":"https://openalex.org/keywords/spasticity","display_name":"spasticity","score":0.9869999885559082},{"id":"https://openalex.org/keywords/aphasia","display_name":"aphasia","score":0.8870000243186951},{"id":"https://openalex.org/keywords/adducted-thumbs","display_name":"adducted thumbs","score":0.9869999885559082},{"id":"https://openalex.org/keywords/mutation-detection-rate","display_name":"mutation detection rate","score":0.734000027179718},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.6869999766349792},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8059999942779541},{"id":"https://openalex.org/keywords/indian-patients","display_name":"Indian patients","score":0.7260000109672546}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7655426859855652},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5719461441040039},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5637471675872803},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5441287159919739},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5285438895225525},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.46090611815452576},{"id":"https://openalex.org/C2779012798","wikidata":"https://www.wikidata.org/wiki/Q117060","display_name":"Spasticity","level":2,"score":0.45253875851631165},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4466702938079834},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.37547409534454346},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31764617562294006},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1177/09727531231185224","doi":"https://doi.org/10.1177/09727531231185224","is_oa":true,"landing_page_url":"https://doi.org/10.1177/09727531231185224","pdf_url":null,"source":{"id":"https://openalex.org/S22816821","display_name":"Annals of Neurosciences","issn_l":"0972-7531","issn":["0972-7531","0976-3260"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","poland-40","russia-white-list-3"],"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurosciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11869245","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11869245","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11869245/pdf/10.1177_09727531231185224.pdf","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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ann Neurosci","raw_type":"Text"},{"id":"pmid:40026328","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40026328","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":"Annals of neurosciences","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1177/09727531231185224","doi":"https://doi.org/10.1177/09727531231185224","is_oa":true,"landing_page_url":"https://doi.org/10.1177/09727531231185224","pdf_url":null,"source":{"id":"https://openalex.org/S22816821","display_name":"Annals of Neurosciences","issn_l":"0972-7531","issn":["0972-7531","0976-3260"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","poland-40","russia-white-list-3"],"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurosciences","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G138090644","display_name":null,"funder_award_id":"/2012","funder_id":"https://openalex.org/F4320320767","funder_display_name":"University Grants Commission"}],"funders":[{"id":"https://openalex.org/F4320320767","display_name":"University Grants Commission","ror":"https://ror.org/04p800546"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4386830463.pdf","grobid_xml":"https://content.openalex.org/works/W4386830463.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W1546341583","https://openalex.org/W1901980552","https://openalex.org/W1965258209","https://openalex.org/W1967571151","https://openalex.org/W1969543645","https://openalex.org/W1972868343","https://openalex.org/W1974475474","https://openalex.org/W1979089991","https://openalex.org/W1991759803","https://openalex.org/W2004986948","https://openalex.org/W2005755942","https://openalex.org/W2015851427","https://openalex.org/W2026801936","https://openalex.org/W2028532609","https://openalex.org/W2035352750","https://openalex.org/W2076606831","https://openalex.org/W2082708689","https://openalex.org/W2135158408","https://openalex.org/W2138419746","https://openalex.org/W2146215440","https://openalex.org/W2152122093","https://openalex.org/W2156589801","https://openalex.org/W2159671885","https://openalex.org/W2160042001","https://openalex.org/W2167363733","https://openalex.org/W2179535230","https://openalex.org/W2414834248","https://openalex.org/W2532173015","https://openalex.org/W2597850348","https://openalex.org/W2809023636"],"related_works":["https://openalex.org/W628290947","https://openalex.org/W2156589801","https://openalex.org/W256997139","https://openalex.org/W4288033552","https://openalex.org/W1972868343","https://openalex.org/W4236017832","https://openalex.org/W4283830676","https://openalex.org/W2028532609","https://openalex.org/W2182176874","https://openalex.org/W2916944915"],"abstract_inverted_index":{"Background":[0],"L1CAM":[1,13,45,139,260],"protein":[2,64],"plays":[3],"a":[4,20,226],"crucial":[5],"role":[6],"during":[7,298],"early":[8],"development":[9,299],"and":[10,25,40,100,143,177,216,234,254,274],"mutations":[11,71,119,151,196,262,273,288],"in":[12,44,55,63,120,152,197,207,217,225,263,292,294],"cause":[14],"L1":[15,17,32,59,83,153,174,213,251,279,304],"syndrome.":[16,305],"syndrome":[18,33,84,154,175,214,252],"demonstrates":[19],"highly":[21],"variable":[22],"presentation":[23],"within":[24],"between":[26],"families.":[27],"The":[28,82,127,193,200,240,281],"clinical":[29],"symptoms":[30],"of":[31,58,138,173,189,249,259,303],"include":[34],"mental":[35,92,104],"retardation,":[36,93],"hydrocephalus,":[37,94],"spasticity,":[38,96],"aphasia,":[39,95],"adducted":[41,97],"thumb.":[42],"Mutations":[43],"gene":[46,140,261],"were":[47,86,183],"found":[48],"to":[49,61,77,117,141,148,164,185,229,246,270,301],"affect":[50],"structurally":[51],"essential":[52],"key":[53],"residues":[54],"extracellular":[56],"region":[57],"leading":[60,300],"changes":[62],"binding":[65],"properties.":[66],"In":[67],"most":[68],"cases,":[69],"these":[70],"create":[72],"unexpected":[73],"phenotypes":[74,90,176,233,253],"which":[75,132,289],"need":[76],"be":[78],"understood":[79],"thoroughly.":[80],"Purpose":[81],"patients":[85,102,155,208,218,230],"identified":[87,285],"by":[88,123,156],"various":[89,295],"like":[91],"thumb,":[98],"etc.,":[99],"the":[101,145,150,157,166,171,190,247,255,264,272,276],"or":[103],"retardation":[105],"(MR)":[106],"children":[107],"who":[108],"had":[109],"more":[110,210,220],"than":[111,211,221],"three":[112],"symptoms.":[113],"This":[114],"study":[115,129,283],"aimed":[116],"screen":[118],"multiple":[121],"exons":[122,137],"Sanger":[124,158],"sequencing.":[125,159],"Methods":[126],"present":[128,282],"employed":[130],"primers":[131],"are":[133,290],"designed":[134],"for":[135],"specific":[136],"amplify":[142],"sequence":[144],"amplified":[146],"product":[147],"detect":[149],"Chi-square":[160],"test":[161],"was":[162,204,244],"used":[163,184],"determine":[165],"mutation":[167,201,241],"detection":[168,202,242],"rate":[169,203,243],"with":[170,209,219,231],"number":[172],"several":[178],"i":[179],"n":[180],"silico":[181],"programs":[182],"investigate":[186],"potential":[187],"effects":[188],"variants.":[191],"Results":[192],"nine":[194],"different":[195],"six":[198],"patients.":[199],"high":[205],"(83.33%)":[206],"one":[212,222],"phenotype":[215],"affected":[223],"member":[224],"family":[227,236,256],"compared":[228],"single":[232],"negative":[235],"history":[237],"(16.6%).":[238],"Conclusion":[239],"related":[245],"presence":[248],"typical":[250],"history.":[257],"Screening":[258],"Indian":[265],"population":[266],"is":[267],"much":[268],"needed":[269],"analyze":[271],"understand":[275],"mechanism":[277],"underlying":[278],"disease.":[280],"has":[284],"some":[286],"novel":[287],"implicated":[291],"alterations":[293],"biological":[296],"functions":[297],"pathogenesis":[302]},"counts_by_year":[],"updated_date":"2026-11-13T13:42:25.865203","created_date":"2023-09-19T00:00:00"}