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In our study, DNA was extracted from 79 unrelated patients diagnosed with idiopathic hypersomnia with long sleep time at the National Reference Center for Narcolepsy\u2010France according to very stringent diagnostic criteria. Whole exome sequencing on the first 30 patients with\u00a0idiopathic hypersomnia (25 females and 5 males) allowed the single nucleotide variants to be compared with a control population of 574 healthy subjects from the French Exome project database. We focused on the identification of genetic variants among 182 genes related to the regulation of sleep and circadian rhythm. Candidate variants obtained by exome sequencing analysis were then validated in a second sample of 49 patients with idiopathic hypersomnia (37 females and 12 males). Our study characterised seven variants from six genes significantly associated with idiopathic hypersomnia compared with controls. A targeted sequencing analysis of these seven variants on 49 other patients with idiopathic hypersomnia confirmed the relative over\u2010representation of the A\u2794C variant of rs2859390, located in a potential splicing\u2010site of <jats:italic>PER3<\/jats:italic> gene. Our findings support a genetic predisposition and identify pathways involved in the pathogeny of idiopathic hypersomnia. A variant of the <jats:italic>PER3<\/jats:italic> gene may predispose to idiopathic hypersomnia with long sleep time.<\/jats:p>","DOI":"10.1111\/jsr.14146","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T03:35:24Z","timestamp":1705980924000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Association between idiopathic hypersomnia and a genetic variant in the <scp><i>PER3<\/i><\/scp> gene"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6139-8193","authenticated-orcid":false,"given":"Yoan","family":"Cherasse","sequence":"first","affiliation":[{"name":"Institute of Medicine\/International Institute for Integrative Sleep Medicine (WPI\u2010IIIS) University of Tsukuba  Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Taira","sequence":"additional","affiliation":[{"name":"International Institute for 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