{"doi":"10.1016/j.sleep.2022.02.019","title":"LMOD3 gene variant in familial periodic hypersomnolence","abstract":null,"journal":"Sleep Medicine","year":2022,"id":635894,"datarank":0.32958368660043297,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"self_citation_contribution":0.32958368660043297,"citation_network_contribution":0.0,"self_endowment_contribution":0.32958368660043297,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":8,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1650004,"name":"Mehdi Tafti","orcid":null,"position":1,"is_corresponding":false},{"id":1650005,"name":"Claudio L.A. Bassetti","orcid":null,"position":2,"is_corresponding":false},{"id":1650003,"name":"Elena Wenz","orcid":"0000-0002-6231-3358","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"LMOD3 gene variant in familial periodic hypersomnolence","abstract":"<h4>Introduction</h4>Kleine-Levin syndrome (KLS) is a rare and debilitating disorder presenting with periodic hypersomnolence, cognitive, psychiatric and behavioral disturbances. In the absence of biomarkers it can be difficult to diagnose. Rare LMOD3 variants in a family and in seven sporadic cases with KLS have been described. Here we report a patient and her family with an unclassified, familial, periodic central disorder of hypersomnolence (CDH) in whom the presence of a LMOD3 gene variant was assessed.<h4>Case description</h4>The female patient presented since early adulthood with recurrent episodes of hypersomnolence. Over more than 20 years of follow-up the diagnoses of idiopathic hypersomnia, KLS and hypersomnia associated with a psychiatric condition were made. The family history is positive for periodic hypersomnolence and psychiatric conditions. The patient, her symptomatic mother and her asymptomatic sister carried a Proline for Histidine substitution at codon 552 of the LMOD3-gene. This variant was previously reported in two sporadic KLS patients and its frequency in the general population is below 0.02%.<h4>Discussion</h4>We report the association of periodic hypersomnia with a polymorphism of the LMOD3-gene in a patient with atypical KLS and a positive family history. Further research is needed to assess the pathological and predictive value of LMOD3 variants in KLS.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35299092","pmcid":null,"openalex_id":null,"authors":[],"funders":[],"total_grants":0,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"hybrid","license":"cc-by-nc-nd","oa_locations":[{"url":"https://www.sciencedirect.com/science/article/pii/S1389945722000636/pdf","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1389945722000636?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1389945722000636?httpAccept=text/plain","host_type":"publisher"},{"url":"https://iris.unil.ch/bitstreams/bd25c3b1-c57c-4a96-ab02-bf81d8f3feb4/download","host_type":"repository"},{"url":"https://boris.unibe.ch/167602/","host_type":"repository"}],"fields_of_study":[],"mesh_terms":["Humans","Disorders of Excessive Somnolence","Kleine-Levin Syndrome","Polymorphism, Genetic","Adult","Female","Idiopathic Hypersomnia"],"keywords":["Genetic","Biomarker","Kleine-levin Syndrome","Periodic Hypersomnia","Lmod3","Central Disorders Of Hypersomnolence"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T15:46:21.547984Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}