{"id":"https://openalex.org/W1989366369","doi":"https://doi.org/10.4103/1817-1745.111424","title":"Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis","display_name":"Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W1989366369","doi":"https://doi.org/10.4103/1817-1745.111424","mag":"1989366369","pmid":"https://pubmed.ncbi.nlm.nih.gov/23772246","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3680897"},"language":"en","primary_location":{"id":"doi:10.4103/1817-1745.111424","doi":"https://doi.org/10.4103/1817-1745.111424","is_oa":true,"landing_page_url":"https://doi.org/10.4103/1817-1745.111424","pdf_url":null,"source":{"id":"https://openalex.org/S195430055","display_name":"Journal of Pediatric Neurosciences","issn_l":"1817-1745","issn":["1817-1745","1998-3948"],"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/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Neurosciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.4103/1817-1745.111424","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089661442","display_name":"Aravindhan Baheerathan","orcid":"https://orcid.org/0000-0003-2291-6354","observed_orcids":["https://orcid.org/0000-0003-2291-6354"]},"institutions":[{"id":"https://openalex.org/I2800281165","display_name":"Leicester Royal Infirmary","ror":"https://ror.org/03jkz2y73","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800281165","https://openalex.org/I2802445252"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Aravindhan Baheerathan","raw_affiliation_strings":["Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom","institution_ids":["https://openalex.org/I2800281165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111727147","display_name":"Arif Khan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800281165","display_name":"Leicester Royal Infirmary","ror":"https://ror.org/03jkz2y73","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800281165","https://openalex.org/I2802445252"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Arif Khan","raw_affiliation_strings":["Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom","institution_ids":["https://openalex.org/I2800281165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073020363","display_name":"Kwong S. Chieng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800281165","display_name":"Leicester Royal Infirmary","ror":"https://ror.org/03jkz2y73","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800281165","https://openalex.org/I2802445252"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"KwongS Chieng","raw_affiliation_strings":["Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom","institution_ids":["https://openalex.org/I2800281165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111622433","display_name":"Nahin Hussain","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800281165","display_name":"Leicester Royal Infirmary","ror":"https://ror.org/03jkz2y73","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800281165","https://openalex.org/I2802445252"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nahin Hussain","raw_affiliation_strings":["Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom","institution_ids":["https://openalex.org/I2800281165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111498905","display_name":"Jayprakash Gosalakkal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800281165","display_name":"Leicester Royal Infirmary","ror":"https://ror.org/03jkz2y73","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800281165","https://openalex.org/I2802445252"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jayprakash Gosalakkal","raw_affiliation_strings":["Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, Leicester Royal Infirmary, Infirmary Square, Leicester, United Kingdom","institution_ids":["https://openalex.org/I2800281165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5089661442"],"corresponding_institution_ids":["https://openalex.org/I2800281165"],"apc_list":null,"apc_paid":null,"fwci":0.4725,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.62050898,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"8","issue":"1","first_page":"49","last_page":"49"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0012000000569969416,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/batten-disease","display_name":"Batten disease","score":0.9559999704360962},{"id":"https://openalex.org/keywords/progressive-vision-loss","display_name":"progressive vision loss","score":0.800000011920929},{"id":"https://openalex.org/keywords/retinal-dystrophy","display_name":"retinal dystrophy","score":0.8769999742507935},{"id":"https://openalex.org/keywords/palmitoyl-protein-thioesterase","display_name":"palmitoyl-protein thioesterase","score":0.8980000019073486},{"id":"https://openalex.org/keywords/granular-inclusions","display_name":"granular inclusions","score":0.6480000019073486},{"id":"https://openalex.org/keywords/visual-hallucinations","display_name":"visual hallucinations","score":0.8460000157356262},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7319999933242798}],"concepts":[{"id":"https://openalex.org/C2778650512","wikidata":"https://www.wikidata.org/wiki/Q4358039","display_name":"Neuronal ceroid lipofuscinosis","level":3,"score":0.8284038305282593},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7719345092773438},{"id":"https://openalex.org/C2778230176","wikidata":"https://www.wikidata.org/wiki/Q1753778","display_name":"Batten disease","level":3,"score":0.6229381561279297},{"id":"https://openalex.org/C2778257484","wikidata":"https://www.wikidata.org/wiki/Q555066","display_name":"Visual acuity","level":2,"score":0.5452152490615845},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5422488451004028},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.5202368497848511},{"id":"https://openalex.org/C2779113765","wikidata":"https://www.wikidata.org/wiki/Q681562","display_name":"Electroretinography","level":3,"score":0.49798059463500977},{"id":"https://openalex.org/C191789040","wikidata":"https://www.wikidata.org/wiki/Q912716","display_name":"Optokinetic reflex","level":3,"score":0.49085837602615356},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.34670740365982056},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2726767659187317},{"id":"https://openalex.org/C153050134","wikidata":"https://www.wikidata.org/wiki/Q760256","display_name":"Eye movement","level":2,"score":0.18182280659675598},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.1487460732460022}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.4103/1817-1745.111424","doi":"https://doi.org/10.4103/1817-1745.111424","is_oa":true,"landing_page_url":"https://doi.org/10.4103/1817-1745.111424","pdf_url":null,"source":{"id":"https://openalex.org/S195430055","display_name":"Journal of Pediatric Neurosciences","issn_l":"1817-1745","issn":["1817-1745","1998-3948"],"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/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Neurosciences","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2678784","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3680897","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:23772246","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23772246","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 pediatric neurosciences","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:3680897","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3680897/","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-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Pediatr Neurosci","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:b423c06db8f14918abd77fba7ad5b335","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/b423c06db8f14918abd77fba7ad5b335","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Pediatric Neurosciences, Vol 8, Iss 1, Pp 49-51 (2013)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.4103/1817-1745.111424","doi":"https://doi.org/10.4103/1817-1745.111424","is_oa":true,"landing_page_url":"https://doi.org/10.4103/1817-1745.111424","pdf_url":null,"source":{"id":"https://openalex.org/S195430055","display_name":"Journal of Pediatric Neurosciences","issn_l":"1817-1745","issn":["1817-1745","1998-3948"],"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/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Neurosciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W1963749822","https://openalex.org/W1988358599","https://openalex.org/W2019489520","https://openalex.org/W2020996052","https://openalex.org/W2414103650","https://openalex.org/W2417637566"],"related_works":["https://openalex.org/W2772594409","https://openalex.org/W2025464307","https://openalex.org/W3030763423","https://openalex.org/W1971569999","https://openalex.org/W2051891076","https://openalex.org/W2021311269","https://openalex.org/W2065518232","https://openalex.org/W4395054042","https://openalex.org/W2988035800","https://openalex.org/W4367591047"],"abstract_inverted_index":{"We":[0],"detected":[1],"a":[2,10],"novel":[3],"CLN1":[4],"gene":[5],"mutation":[6],"(p.Arg151X,":[7],"heterogenous)":[8],"in":[9,23,64,94,137,152,182],"12-year-old":[11],"boy.":[12],"Low":[13],"level":[14],"of":[15,40,49,56,130,170],"palmitoyl":[16,174],"protein":[17,175],"thioesterase":[18,176],"and":[19,47,78,97,106,122,173,191],"granular":[20],"inclusion":[21],"pattern":[22],"lymphocytes":[24],"were":[25,112,128],"also":[26,113],"consistent":[27],"with":[28,156,162],"infantile":[29],"Neuronal":[30],"ceroid":[31,44],"lipofuscinosis":[32,45],"(INCL).":[33],"However,":[34,85],"the":[35,54],"clinical":[36,187],"phenotype":[37],"was":[38,62,102],"that":[39,147],"atypical":[41],"juvenile":[42],"neuronal":[43],"(JNCL)":[46],"consisted":[48],"progressive":[50,158],"visual":[51,60,89,124,159],"loss":[52,136,160],"from":[53],"age":[55],"8":[57],"years.":[58],"His":[59],"acuity":[61,90],"6/60":[63,79,93,103],"both":[65,95],"eyes":[66,96],"at":[67,98],"first":[68],"presentation,":[69],"6/36":[70],"one":[71],"month":[72],"later,":[73],"then":[74],"6/6":[75],"(right":[76,104],"eye),":[77],"(left":[80,108],"eye)":[81,105],"6":[82],"months":[83],"later.":[84],"after":[86],"4":[87],"months,":[88],"dropped":[91],"to":[92,141],"last":[99],"follow-up,":[100],"it":[101],"3/60":[107],"eye).":[109],"Visual":[110,135],"hallucinations":[111],"reported.":[114],"Persistent":[115],"normal":[116,119,163],"fundi":[117,164],"findings,":[118,190],"electroretinogram":[120],"(ERG),":[121],"delayed":[123,166],"evoked":[125],"potentials":[126],"(VEP)":[127],"suggestive":[129],"non-retinal":[131],"adolescence":[132],"form/atypical":[133],"JNCL.":[134],"JNCL":[138,148],"is":[139],"secondary":[140],"retinal":[142],"dystrophy.":[143],"Our":[144],"observations":[145],"suggest":[146],"should":[149],"be":[150],"considered":[151],"any":[153],"children":[154],"presenting":[155],"bilateral":[157],"even":[161],"and/or":[165],"VEP.":[167],"Electron":[168],"microscopy":[169],"buffy":[171],"coat":[172],"enzyme":[177],"study":[178],"are":[179,194],"useful":[180],"tools":[181],"diagnosis.":[183],"Pertinent":[184],"issues":[185],"regarding":[186],"symptomatology,":[188],"ophthalmologic":[189],"laboratory":[192],"results":[193],"discussed.":[195]},"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":1},{"year":2019,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}