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This evidence suggests that the structure of the <jats:italic>OX2R<\/jats:italic> gene, and its homologue, the <jats:italic>OX1R<\/jats:italic> gene, both members of the G protein\u2010coupled receptor (GPCR) family, and the gene encoding the peptide ligands, the <jats:italic>prepro\u2010orexin<\/jats:italic>\/<jats:italic>hypocretin<\/jats:italic> gene, may be variables in the etiology of sleep disorders. We report a single stranded conformational polymorphism (SSCP) analysis of the coding regions of these genes in idiopathic sleep disorder patients diagnosed with excessive daytime sleepiness (EDS) (n\u2009=\u200928), narcolepsy (n\u2009=\u200928), Tourette's syndrome\/chronic vocal or motor tic disorder (n\u2009=\u200970), and control subjects (n\u2009=\u2009110). Two EDS patients showed a Pro11Thr change. One Tourette's syndrome patient was found to have a Pro10Ser alteration. The Pro10Ser and Pro11Thr variants were not found in non\u2010disease populations. Analysis of the ability of the mutant receptors to mobilize calcium compared to the wild\u2010type receptor in response to orexin agonists indicated that they resulted in decreased potency at high (\u03b7M) concentrations of orexin ligands. Further work is warranted to study the variability of the orexin\/hypocretin system in a variety of disorders characterized by EDS. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30047","type":"journal-article","created":{"date-parts":[[2004,6,7]],"date-time":"2004-06-07T21:09:26Z","timestamp":1086642566000},"page":"69-75","source":"Crossref","is-referenced-by-count":38,"title":["Variants of the <i>orexin2<\/i>\/<i>hcrt2<\/i> receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity"],"prefix":"10.1002","volume":"129B","author":[{"given":"Miles D.","family":"Thompson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E.","family":"Comings","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashid","family":"Abu\u2010Ghazalah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousef","family":"Jereseh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leo","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judy","family":"Wade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Sakurai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Tokita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Yanagisawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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