Prader-Willi syndrome | kleine-levin syndrome and prader-willi syndrome

SkiptomaincontentThankyouforvisitingnature.com.YouareusingabrowserversionwithlimitedsupportforCSS.Toobtainthebestexperience,werecommendyouuseamoreuptodatebrowser(orturnoffcompatibilitymodeinInternetExplorer).Inthemeantime,toensurecontinuedsupport,wearedisplayingthesitewithoutstylesandJavaScript.AdvertisementnaturegeneticsinmedicinegenetestreviewarticlePrader-WillisyndromeDownloadPDFAbstractPrader-Willisyndromeischaracterizedbysevereinfantilehypotoniawithpoorsuckandfailuretothrive;hypogonadismcausinggenitalhypoplasiaandpubertalinsufficiency;characteristicfacialfeatures;early-childhoodonsetobesityandhyperphagia;developmentaldelay/mildintellectualdisability;shortstature;andadistinctivebehavioralphenotype.Sleepabnormalitiesandscoliosisarecommon.Growthhormoneinsufficiencyisfrequent,andreplacementtherapyprovidesimprovementingrowth,bodycomposition,andphysicalattributes.Managementisotherwiselargelysupportive.Consensusclinicaldiagnosticcriteriaexist,butdiagnosisshouldbeconfirmedthroughgenetictesting.Prader-Willisyndromeisduetoabsenceofpaternallyexpressedimprintedgenesat15q11.2-q13throughpaternaldeletionofthisregion(65–75%ofindividuals),maternaluniparentaldisomy15(20–30%),oranimprintingdefect(1–3%).Parent-specificDNAmethylationanalysiswilldetect>99%ofindividuals.However,additionalgeneticstudiesarenecessarytoidentifythemolecularclass.Therearemultipleimprintedgenesinthisregion,thelossofwhichcontributetothecompletephenotypeofPrader-Willisyndrome.However,absenceofasmallnucleolarorganizingRNAgene,SNORD116,seemstoreproducemanyoftheclinicalfeatures.Siblingrecurrenceriskistypically<1%,buthigherrisksmaypertainincertaincases.Prenataldiagnosisisavailable.GenetMed2012:14(1):10–26.DownloadPDFOverviewPrader-Willisyndrome(PWS)isamultisystemdisorderwithanestimatedprevalenceinseveralstudiedpopulationsof1/10,000–1/30,000.Itischaracterizedbyseverehypotoniawithpoorsuckandfeedingdifficultiesinearlyinfancy,followedinlaterinfancyorearlychildhoodbyexcessiveeatingandgradualdevelopmentofmorbidobesityu

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GAD65 Autoantibodies in Kleine-Levin Syndrome | kleine-levin syndrome and prader-willi syndrome
To the Editor: Kleine-Levin syndrome (KLS), or Sleeping Beauty syndrome, is a ... driven by GABAergic dysfunction in Prader-Willi Syndrome.
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Kleine–Levin syndrome (KLS) is a rare disorder characterized by persistent episodic hypersomnia and cognitive or mood changes. Many patients also ...
Kleine-Levin Syndrome | kleine-levin syndrome and prader-willi syndrome
Kleine-Levin syndrome is a rare disorder characterized by the need for excessive amounts of sleep (hypersomnolence), (i.e., up to 20 hours a ...
(PDF) Klein–Levin syndrome in a boy with Prader–Willi ... | kleine-levin syndrome and prader-willi syndrome
After each episode, the boy had complete remission. Our findings show that the two episodes are compatible with Kleine-Levin syndrome. The ...
Kleine-Levin Syndrome in a Boy With Prader-Willi Syndrome | kleine-levin syndrome and prader-willi syndrome
After each episode, the boy had complete remission. Our findings show that the two episodes are compatible with the Kleine-Levin syndrome. The relationship between the two syndromes, the Prader-Willi syn- drome and the Kleine-Levin syndrome, deserves further study.
Prader-Willi syndrome | kleine-levin syndrome and prader-willi syndrome
Kleine-Levin Syndrome | kleine-levin syndrome and prader-willi syndrome
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Pader-Willi syndrome | kleine-levin syndrome and prader-willi syndrome
Kleine-Levin syndrome in a boy with Prader-Willi ... | kleine-levin syndrome and prader-willi syndrome
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