{"id":"https://openalex.org/W4417190075","doi":"https://doi.org/10.7759/cureus.98872","title":"Diagnosis and Management of Keppen-Lubinsky Syndrome in a Lebanese Infant: A Case Report","display_name":"Diagnosis and Management of Keppen-Lubinsky Syndrome in a Lebanese Infant: A Case Report","publication_year":2025,"publication_date":"2025-12-10","ids":{"openalex":"https://openalex.org/W4417190075","doi":"https://doi.org/10.7759/cureus.98872","pmid":"https://pubmed.ncbi.nlm.nih.gov/41523402","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12790262"},"language":"en","primary_location":{"id":"doi:10.7759/cureus.98872","doi":"https://doi.org/10.7759/cureus.98872","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.98872","pdf_url":"https://www.cureus.com/articles/439319-diagnosis-and-management-of-keppen-lubinsky-syndrome-in-a-lebanese-infant-a-case-report.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.cureus.com/articles/439319-diagnosis-and-management-of-keppen-lubinsky-syndrome-in-a-lebanese-infant-a-case-report.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037091742","display_name":"Hadi M. Fakih","orcid":"https://orcid.org/0000-0002-6415-0732","observed_orcids":["https://orcid.org/0000-0002-6415-0732"]},"institutions":[{"id":"https://openalex.org/I160368002","display_name":"Lebanese University","ror":"https://ror.org/05x6qnc69","country_code":"LB","type":"education","lineage":["https://openalex.org/I160368002"]}],"countries":["LB"],"is_corresponding":true,"raw_author_name":"Hadi Fakih","raw_affiliation_strings":["Pediatrics, Faculty of Medical Sciences, Lebanese University, Beirut, LBN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, Faculty of Medical Sciences, Lebanese University, Beirut, LBN","institution_ids":["https://openalex.org/I160368002"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5037091742"],"corresponding_institution_ids":["https://openalex.org/I160368002"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.28719071,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":"12","first_page":"e98872","last_page":"e98872"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8306000232696533,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.8306000232696533,"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":0.10029999911785126,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10493","display_name":"Ion channel regulation and function","score":0.051500000059604645,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/kcnj6","display_name":"KCNJ6","score":0.8759999871253967},{"id":"https://openalex.org/keywords/infantile-spasms","display_name":"infantile spasms","score":0.9490000009536743},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7929999828338623},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.7639999985694885},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.7760000228881836},{"id":"https://openalex.org/keywords/rare-genetic-disorders","display_name":"rare genetic disorders","score":0.6069999933242798},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.3240000009536743}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9722999930381775},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7218999862670898},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5999000072479248},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.5249999761581421},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.3278000056743622},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.31299999356269836},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.3102000057697296},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.3100000023841858},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.2703000009059906},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.26820001006126404},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.26330000162124634},{"id":"https://openalex.org/C2991960288","wikidata":"https://www.wikidata.org/wiki/Q817393","display_name":"African descent","level":2,"score":0.2621000111103058},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.25690001249313354},{"id":"https://openalex.org/C2983449737","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Clinical diagnosis","level":2,"score":0.25029999017715454}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.7759/cureus.98872","doi":"https://doi.org/10.7759/cureus.98872","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.98872","pdf_url":"https://www.cureus.com/articles/439319-diagnosis-and-management-of-keppen-lubinsky-syndrome-in-a-lebanese-infant-a-case-report.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},{"id":"pmid:41523402","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41523402","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":"Cureus","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:12790262","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12790262/","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":"Cureus","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.7759/cureus.98872","doi":"https://doi.org/10.7759/cureus.98872","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.98872","pdf_url":"https://www.cureus.com/articles/439319-diagnosis-and-management-of-keppen-lubinsky-syndrome-in-a-lebanese-infant-a-case-report.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4417190075.pdf","grobid_xml":"https://content.openalex.org/works/W4417190075.grobid-xml"},"referenced_works_count":5,"referenced_works":["https://openalex.org/W1490514065","https://openalex.org/W2035166804","https://openalex.org/W2051978340","https://openalex.org/W3143776985","https://openalex.org/W3155335075"],"related_works":["https://openalex.org/W4200348860","https://openalex.org/W3198325448","https://openalex.org/W3217506277","https://openalex.org/W4294926289","https://openalex.org/W3217543099","https://openalex.org/W4416845813","https://openalex.org/W2123177670","https://openalex.org/W1927420265","https://openalex.org/W4321185620","https://openalex.org/W3033555982"],"abstract_inverted_index":{"We":[0],"report":[1],"a":[2,17,26,37],"five-month-old":[3],"male":[4],"infant":[5],"of":[6,39,48,59],"Lebanese":[7],"descent":[8],"who":[9],"presented":[10],"with":[11,68],"infantile":[12],"spasms,":[13],"axial":[14],"hypotonia,":[15],"and":[16,62],"distinctive":[18],"facial":[19],"gestalt.":[20],"Whole":[21],"exome":[22],"sequencing":[23],"(WES)":[24],"identified":[25],"heterozygous":[27],"pathogenic":[28],"variant":[29],"(c.460G>A;":[30],"p.Gly154Ser)":[31],"in":[32,50],"the":[33,46,56,64],"KCNJ6":[34],"gene,":[35],"confirming":[36],"diagnosis":[38],"Keppen-Lubinsky":[40],"Syndrome":[41],"(KPLBS).":[42],"This":[43],"case":[44],"underscores":[45],"utility":[47],"WES":[49],"diagnosing":[51],"rare":[52],"dysmorphic":[53],"syndromes,":[54],"discusses":[55],"therapeutic":[57],"challenges":[58],"channelopathy-related":[60],"epilepsy,":[61],"outlines":[63],"guarded":[65],"prognosis":[66],"associated":[67],"KPLBS.":[69]},"counts_by_year":[],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2025-12-10T00:00:00"}