{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T14:23:00Z","timestamp":1778768580589,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,6,19]],"date-time":"2018-06-19T00:00:00Z","timestamp":1529366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006390","name":"Universit\u00e9 de Lausanne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006390","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Sleep Research"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kleine\u2010Levin syndrome (KLS) is a rare periodic hypersomnia with associated behavioural abnormalities but with often favourable prognosis. There is excess risk of KLS in first\u2010degree relatives, suggesting a strong genetic contribution. So far, no mutation is identified in KLS and comprehensive genetic analysis of affected individuals is lacking. Here we performed whole genome single\u2010nucleotide polymorphism (SNP) genotyping and exome sequencing in a large family with seven affected members. The identified gene with a mutation was resequenced in 38 sporadic KLS patients and the expression of the gene product was mapped in the mouse brain. Linkage analysis mapped the disease locus to chromosome 3 and exome analysis identified a heterozygous missense variant in <jats:italic>LMOD3<\/jats:italic> (p.E142D) in the linkage interval. The variant was found to segregate in all affected and one presumably unaffected member of the family. Resequencing <jats:italic>LMOD3<\/jats:italic> in 38 other KLS patients and their families revealed three other low frequency or rare missense variants in seven cases that were inherited with incomplete penetrance. LMOD3 is expressed in the brain and colocalized with major structures involved in the regulation of vigilance states. LMOD proteins are structural proteins and seem to be developmentally regulated. Our findings suggest that KLS might be a structural\/neurodevelopmental brain disease.<\/jats:p>","DOI":"10.1111\/jsr.12718","type":"journal-article","created":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T01:36:22Z","timestamp":1529458582000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Kleine\u2010Levin syndrome is associated with <i>LMOD3<\/i> variants"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0104-6583","authenticated-orcid":false,"given":"Saad M.","family":"Al Shareef","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, College of Medicine Al Imam Mohammad Ibn Saud Islamic University (IMSIU) Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[{"name":"College of Medicine Taibah University Almadinah Almunawwarah Saudi 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Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Lecendreux","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Pediatric Sleep Center and National Reference Center for Orphan Diseases, Narcolepsy, Idiopathic Hypersomnia and Kleine\u2010Levin Syndrome Robert\u2010Debr\u00e9 Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geert","family":"Mayer","sequence":"additional","affiliation":[{"name":"Hephata Klinik Scwalmstadt, and Philipps University of Marburg Marburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Dauvilliers","sequence":"additional","affiliation":[{"name":"Reference National Center for Narcolepsy, Department of Neurology Gui\u2010de\u2010Chauliac Hospital, INSER U106 Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Department of 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