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<meta name="keywords" content="C1834372, cataplexy, disease or syndrome, gelineau syndrome, gelineau's syndrome, hcrt, hcrt narcolepsy, narcolepsy 1, narcolepsy caused by mutation in hcrt, narcolepsy risk factor, narcoleptic syndrome, narcoleptic syndrome 1, nrclp1, paroxysmal sleep, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal. In contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype (Peyron et al., 2000). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) (Mignot, 1998). Genetic Heterogeneity of Narcolepsy Additional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; 605841), 21q (NRCLP3; 609039), 22q13 (NRCLP4; 612417), 14q11 (NRCLP5; 612851), and 19p13.2 (NRCLP6; 614223). NRCLP7 (614250) is caused by mutation in the MOG gene (159465) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene (610259) on chromosome 21q22." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=371809
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ConceptID=C1834372
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Narcolepsy 1<span class="h1sub">(NRCLP1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371809</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1834372</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Gelineau syndrome; Gelineau's syndrome; Narcolepsy Risk Factor; Narcoleptic syndrome; NARCOLEPTIC SYNDROME 1; NRCLP1; Paroxysmal sleep</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HCRT - ID: 3060 - NCBI Gene" href="/gene/3060" class="medgenPMinfo">HCRT</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008062" target="_blank">MONDO:0008062</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/161400" target="_blank">161400</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal. In contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype (Peyron et al., 2000). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) (Mignot, 1998). Genetic Heterogeneity of Narcolepsy Additional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; 605841), 21q (NRCLP3; 609039), 22q13 (NRCLP4; 612417), 14q11 (NRCLP5; 612851), and 19p13.2 (NRCLP6; 614223). NRCLP7 (614250) is caused by mutation in the MOG gene (159465) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene (610259) on chromosome 21q22. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Some people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.<br /><br />Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.<br /><br />Another common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.<br /><br />Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.<br /><br />Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence. <a target="_blank" href="https://medlineplus.gov/genetics/condition/narcolepsy">https://medlineplus.gov/genetics/condition/narcolepsy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2862"><div><strong>Cataplexy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2862</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2862">Feature record</a> | <a href="/medgen?term=%22Cataplexy%22%5BClinical%20Features%5D%20OR%202862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45001"><div><strong>Narcolepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45001</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45001">Feature record</a> | <a href="/medgen?term=%22Narcolepsy%22%5BClinical%20Features%5D%20OR%2045001%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68578"><div><strong>Hypnagogic hallucination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68578</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0233773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68578">Feature record</a> | <a href="/medgen?term=%22Hypnagogic%20hallucination%22%5BClinical%20Features%5D%20OR%2068578%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488885"><div><strong>Abnormal rapid eye movement sleep</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488885</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0392188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488885">Feature record</a> | <a href="/medgen?term=%22Abnormal%20rapid%20eye%20movement%20sleep%22%5BClinical%20Features%5D%20OR%20488885%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140858"><div><strong>Hypnopompic hallucination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140858</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0424082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140858">Feature record</a> | <a href="/medgen?term=%22Hypnopompic%20hallucination%22%5BClinical%20Features%5D%20OR%20140858%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96820"><div><strong>Sleep paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96820</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96820">Feature record</a> | <a href="/medgen?term=%22Sleep%20paralysis%22%5BClinical%20Features%5D%20OR%2096820%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871232"><div><strong>Paroxysmal drowsiness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871232">Feature record</a> | <a href="/medgen?term=%22Paroxysmal%20drowsiness%22%5BClinical%20Features%5D%20OR%20871232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1635612"><div><strong>Excessive daytime somnolence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of abnormally strong desire for sleep during the daytime.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635612">Feature record</a> | <a href="/medgen?term=%22Excessive%20daytime%20somnolence%22%5BClinical%20Features%5D%20OR%201635612%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal rapid eye movement sleep</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataplexy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1635612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Excessive daytime somnolence</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypnagogic hallucination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypnopompic hallucination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narcolepsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paroxysmal drowsiness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep paralysis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29512449">Sodium Oxybate Treatment in Pediatric Type 1 Narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moresco M,
|
||
Pizza F,
|
||
Antelmi E,
|
||
Plazzi G</span><br />
|
||
<span class="medgenPMjournal">Curr Drug Metab</span>
|
||
2018;19(13):1073-1079.
|
||
doi: 10.2174/1389200219666180305153134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29512449" target="_blank">29512449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25458251">Clinical and practical considerations in the pharmacologic management of narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thorpy MJ,
|
||
Dauvilliers Y</span><br />
|
||
<span class="medgenPMjournal">Sleep Med</span>
|
||
2015 Jan;16(1):9-18.
|
||
Epub 2014 Oct 16
|
||
doi: 10.1016/j.sleep.2014.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25458251" target="_blank">25458251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24122734">Current and emerging options for the drug treatment of narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De la Herrán-Arita AK,
|
||
García-García F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2013 Nov;73(16):1771-81.
|
||
doi: 10.1007/s40265-013-0127-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24122734" target="_blank">24122734</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22narcolepsy%201%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39226768">CSF-profile and hypocretin levels in children with narcolepsy type 1 and 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Josler M,
|
||
El Naggar I,
|
||
Bertolini A,
|
||
Kutz P,
|
||
Roll C,
|
||
Wendel EM,
|
||
Schlüter B,
|
||
Hahn A,
|
||
Siegert S,
|
||
Hackenberg A,
|
||
Zuberi SM,
|
||
Otto M,
|
||
Rostásy K</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2024 Nov;53:1-7.
|
||
Epub 2024 Aug 17
|
||
doi: 10.1016/j.ejpn.2024.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39226768" target="_blank">39226768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38783152">Navigating narcolepsy: exploring coping strategies and their association with quality of life in patients with narcolepsy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varallo G,
|
||
Franceschini C,
|
||
Rapelli G,
|
||
Zenesini C,
|
||
Baldini V,
|
||
Baccari F,
|
||
Antelmi E,
|
||
Pizza F,
|
||
Vignatelli L,
|
||
Biscarini F,
|
||
Ingravallo F,
|
||
Plazzi G</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 May 23;14(1):11837.
|
||
doi: 10.1038/s41598-024-62698-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38783152" target="_blank">38783152</a><a href="/pmc/articles/PMC11116444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38669634">Microglia Density and Its Association With Disease Duration, Severity, and Orexin Levels in Patients With Narcolepsy Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barateau L,
|
||
Krache A,
|
||
Da Costa A,
|
||
Lecendreux M,
|
||
Debs R,
|
||
Chenini S,
|
||
Arlicot N,
|
||
Vourc'h P,
|
||
Evangelista E,
|
||
Alonso M,
|
||
Salabert AS,
|
||
Silva S,
|
||
Béziat S,
|
||
Jaussent I,
|
||
Mariano-Goulart D,
|
||
Payoux P,
|
||
Dauvilliers Y</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 May;102(10):e209326.
|
||
Epub 2024 Apr 26
|
||
doi: 10.1212/WNL.0000000000209326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38669634" target="_blank">38669634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32963102">Depression and suicidal thoughts in untreated and treated narcolepsy: Systematic analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barateau L,
|
||
Lopez R,
|
||
Chenini S,
|
||
Pesenti C,
|
||
Rassu AL,
|
||
Jaussent I,
|
||
Dauvilliers Y</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Nov 17;95(20):e2755-e2768.
|
||
Epub 2020 Sep 22
|
||
doi: 10.1212/WNL.0000000000010737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32963102" target="_blank">32963102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28179647">Narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kornum BR,
|
||
Knudsen S,
|
||
Ollila HM,
|
||
Pizza F,
|
||
Jennum PJ,
|
||
Dauvilliers Y,
|
||
Overeem S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Feb 9;3:16100.
|
||
doi: 10.1038/nrdp.2016.100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28179647" target="_blank">28179647</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Narcolepsy%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (73)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39241492">Recent insights into the pathophysiology of narcolepsy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vringer M,
|
||
Zhou J,
|
||
Gool JK,
|
||
Bijlenga D,
|
||
Lammers GJ,
|
||
Fronczek R,
|
||
Schinkelshoek MS</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2024 Dec;78:101993.
|
||
Epub 2024 Aug 15
|
||
doi: 10.1016/j.smrv.2024.101993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39241492" target="_blank">39241492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34894325">Current Understanding of Narcolepsy 1 and its Comorbidities: What Clinicians Need to Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krahn LE,
|
||
Zee PC,
|
||
Thorpy MJ</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2022 Jan;39(1):221-243.
|
||
Epub 2021 Dec 11
|
||
doi: 10.1007/s12325-021-01992-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34894325" target="_blank">34894325</a><a href="/pmc/articles/PMC8799537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28969429">Pediatric Narcolepsy: A Brief Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klimova B,
|
||
Valis M,
|
||
Talabova M,
|
||
Kuchynka J,
|
||
Kuca K</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2018 Jun;57(6):738-740.
|
||
Epub 2017 Oct 2
|
||
doi: 10.1177/0009922817732149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28969429" target="_blank">28969429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28837992">Diagnosis and Management of Narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider L,
|
||
Mignot E</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2017 Aug;37(4):446-460.
|
||
Epub 2017 Aug 24
|
||
doi: 10.1055/s-0037-1605554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28837992" target="_blank">28837992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28179647">Narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kornum BR,
|
||
Knudsen S,
|
||
Ollila HM,
|
||
Pizza F,
|
||
Jennum PJ,
|
||
Dauvilliers Y,
|
||
Overeem S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Feb 9;3:16100.
|
||
doi: 10.1038/nrdp.2016.100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28179647" target="_blank">28179647</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Narcolepsy%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (80)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39032452">Infection, vaccination and narcolepsy type 1: Evidence and potential molecular mechanisms.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ayoub I,
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Freeman SA,
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Saoudi A,
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Liblau R</span><br />
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<span class="medgenPMjournal">J Neuroimmunol</span>
|
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2024 Aug 15;393:578383.
|
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Epub 2024 Jun 1
|
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doi: 10.1016/j.jneuroim.2024.578383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39032452" target="_blank">39032452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38669634">Microglia Density and Its Association With Disease Duration, Severity, and Orexin Levels in Patients With Narcolepsy Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barateau L,
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Krache A,
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Da Costa A,
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Lecendreux M,
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Debs R,
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Chenini S,
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Arlicot N,
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Vourc'h P,
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Evangelista E,
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Alonso M,
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Salabert AS,
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Silva S,
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Béziat S,
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Jaussent I,
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Mariano-Goulart D,
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Payoux P,
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Dauvilliers Y</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2024 May;102(10):e209326.
|
||
Epub 2024 Apr 26
|
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doi: 10.1212/WNL.0000000000209326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38669634" target="_blank">38669634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38318948">Sex disparities in clinical features and burden of narcolepsy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ingravallo F,
|
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Bassi C,
|
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Zenesini C,
|
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Vignatelli L,
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Pagotto U,
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Pizza F,
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Plazzi G</span><br />
|
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<span class="medgenPMjournal">J Sleep Res</span>
|
||
2024 Oct;33(5):e14157.
|
||
Epub 2024 Feb 6
|
||
doi: 10.1111/jsr.14157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38318948" target="_blank">38318948</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30948158">Shared T cell receptor chains in blood memory CD4(+) T cells of narcolepsy type 1 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beltrán E,
|
||
Nguyen XH,
|
||
Quériault C,
|
||
Barateau L,
|
||
Dauvilliers Y,
|
||
Dornmair K,
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Liblau RS</span><br />
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<span class="medgenPMjournal">J Autoimmun</span>
|
||
2019 Jun;100:1-6.
|
||
Epub 2019 Apr 2
|
||
doi: 10.1016/j.jaut.2019.03.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30948158" target="_blank">30948158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28179647">Narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kornum BR,
|
||
Knudsen S,
|
||
Ollila HM,
|
||
Pizza F,
|
||
Jennum PJ,
|
||
Dauvilliers Y,
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Overeem S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Feb 9;3:16100.
|
||
doi: 10.1038/nrdp.2016.100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28179647" target="_blank">28179647</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Narcolepsy%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (42)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38678310">Atypical isolated cataplexy: two case reports and a mini-review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandagere V,
|
||
Rayment D</span><br />
|
||
<span class="medgenPMjournal">Neurocase</span>
|
||
2023 Jun;29(3):87-89.
|
||
Epub 2024 Apr 27
|
||
doi: 10.1080/13554794.2024.2347606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38678310" target="_blank">38678310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34052817">Hypocretin/Orexin, Sleep and Alzheimer's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dauvilliers Y</span><br />
|
||
<span class="medgenPMjournal">Front Neurol Neurosci</span>
|
||
2021;45:139-149.
|
||
Epub 2021 May 28
|
||
doi: 10.1159/000514967.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34052817" target="_blank">34052817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26146026">Cardiovascular autonomic dysfunctions and sleep disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calandra-Buonaura G,
|
||
Provini F,
|
||
Guaraldi P,
|
||
Plazzi G,
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Cortelli P</span><br />
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<span class="medgenPMjournal">Sleep Med Rev</span>
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2016 Apr;26:43-56.
|
||
Epub 2015 Jun 3
|
||
doi: 10.1016/j.smrv.2015.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26146026" target="_blank">26146026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26156948">Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baiardi S,
|
||
Vandi S,
|
||
Pizza F,
|
||
Alvisi L,
|
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Toscani L,
|
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Zambrelli E,
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Tinuper P,
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Mayer G,
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Plazzi G</span><br />
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<span class="medgenPMjournal">J Clin Sleep Med</span>
|
||
2015 Nov 15;11(11):1257-62.
|
||
doi: 10.5664/jcsm.5180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26156948" target="_blank">26156948</a><a href="/pmc/articles/PMC4623123" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25547035">Actigraphic assessment of sleep/wake behavior in central disorders of hypersomnolence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filardi M,
|
||
Pizza F,
|
||
Martoni M,
|
||
Vandi S,
|
||
Plazzi G,
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Natale V</span><br />
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<span class="medgenPMjournal">Sleep Med</span>
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||
2015 Jan;16(1):126-30.
|
||
Epub 2014 Nov 13
|
||
doi: 10.1016/j.sleep.2014.08.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25547035" target="_blank">25547035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Narcolepsy%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39241492">Recent insights into the pathophysiology of narcolepsy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vringer M,
|
||
Zhou J,
|
||
Gool JK,
|
||
Bijlenga D,
|
||
Lammers GJ,
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||
Fronczek R,
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Schinkelshoek MS</span><br />
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<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2024 Dec;78:101993.
|
||
Epub 2024 Aug 15
|
||
doi: 10.1016/j.smrv.2024.101993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39241492" target="_blank">39241492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39226673">Clinical features and mechanisms of neck myoclonus in narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu W,
|
||
Zhang X,
|
||
Zhang B,
|
||
Lu S,
|
||
Huang W,
|
||
Xu J,
|
||
Liu Y,
|
||
Zhao W,
|
||
Yan Z,
|
||
Yu Y,
|
||
Qiu S,
|
||
Wu B,
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||
Tang J</span><br />
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||
<span class="medgenPMjournal">Sleep Med</span>
|
||
2024 Nov;123:22-28.
|
||
Epub 2024 Aug 30
|
||
doi: 10.1016/j.sleep.2024.08.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39226673" target="_blank">39226673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38318948">Sex disparities in clinical features and burden of narcolepsy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ingravallo F,
|
||
Bassi C,
|
||
Zenesini C,
|
||
Vignatelli L,
|
||
Pagotto U,
|
||
Pizza F,
|
||
Plazzi G</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2024 Oct;33(5):e14157.
|
||
Epub 2024 Feb 6
|
||
doi: 10.1111/jsr.14157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38318948" target="_blank">38318948</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31730293">Children with Narcolepsy type 1 have increased T-cell responses to orexins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cogswell AC,
|
||
Maski K,
|
||
Scammell TE,
|
||
Tucker D,
|
||
Orban ZS,
|
||
Koralnik IJ</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2019 Dec;6(12):2566-2572.
|
||
Epub 2019 Nov 15
|
||
doi: 10.1002/acn3.50908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31730293" target="_blank">31730293</a><a href="/pmc/articles/PMC6917326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27707443">Growing Up with Type 1 Narcolepsy: Its Anthropometric and Endocrine Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponziani V,
|
||
Gennari M,
|
||
Pizza F,
|
||
Balsamo A,
|
||
Bernardi F,
|
||
Plazzi G</span><br />
|
||
<span class="medgenPMjournal">J Clin Sleep Med</span>
|
||
2016 Dec 15;12(12):1649-1657.
|
||
doi: 10.5664/jcsm.6352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27707443" target="_blank">27707443</a><a href="/pmc/articles/PMC5155189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Narcolepsy%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (51)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321823">Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Capittini C,
|
||
De Silvestri A,
|
||
Terzaghi M,
|
||
Scotti V,
|
||
Rebuffi C,
|
||
Pasi A,
|
||
Manni R,
|
||
Martinetti M,
|
||
Tinelli C</span><br />
|
||
<span class="medgenPMjournal">Sleep Med</span>
|
||
2018 Dec;52:150-157.
|
||
Epub 2018 Sep 20
|
||
doi: 10.1016/j.sleep.2018.08.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321823" target="_blank">30321823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Narcolepsy%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
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|
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<div class=" bottom">
|
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|
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||
|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1834372%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834372%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834372%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1834372%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1834372%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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</ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=161400" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Narcolepsy%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22narcolepsy%201%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602358" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3060[geneid]" target="_blank">View HCRT variations in ClinVar</a></li><li><a href="/nuccore/224809243" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=161400" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/narcolepsy_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Narcolepsy%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/narcolepsy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15091/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Narcolepsy%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=371809" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd3871f4a390645eec6e6a">Narcolepsy 1</a>
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<div class="ralinkpop offscreen_noflow">Narcolepsy 1<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd3870b15b832ebca19176">C1834372[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd386f84f3725e59ddde69">C4014848[trait identifier] AND "OMIM"[submitter] <span class="number">(3)</span></a>
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<div class="tertiary">ClinVar</div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd386df4a390645eec5708">C4014848[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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