Um tipo de narcolepsia caracterizado por sonolência excessiva durante o dia, acompanhada por uma vontade incontrolável de dormir e cataplexia (que é uma perda repentina de força nos músculos, muitas vezes causada por emoções agradáveis).
Introdução
O que você precisa saber de cara
Um tipo de narcolepsia caracterizado por sonolência excessiva durante o dia, acompanhada por uma vontade incontrolável de dormir e cataplexia (que é uma perda repentina de força nos músculos, muitas vezes causada por emoções agradáveis).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 35 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
8 genes identificados com associação a esta condição. Padrão de herança: Unknown.
A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells
Cell membraneEndoplasmic reticulum membraneLysosome membraneLate endosome membraneAutolysosome membrane
Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP
Cell membrane
Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested Binds to orexin receptors HCRTR1/OX1R and HCRTR2/OX2R with a high affinity (By similarity). Stimulates food intake (By simil
Rough endoplasmic reticulumCytoplasmic vesicleSynapse
Narcolepsy 1
Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed.
Important for the overall degradation of proteins in lysosomes
Lysosome
Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication (Microbial infection) Acts as a receptor for rubella virus
Cell membrane
Narcolepsy 7
Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed.
May play a role in uric acid excretion
Uric acid nephrolithiasis
A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone-forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones.
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC
Cell membraneEndoplasmic reticulum membraneGolgi apparatus, trans-Golgi network membraneEndosome membraneLysosome membrane
Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production
Membrane
Systemic lupus erythematosus
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Medicamentos aprovados (FDA)
3 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
66 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 61 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Narcolepsia tipo 1
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
14 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
43 ensaios clínicos encontrados, 18 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 660
Patient-reported experiences of cognitive difficulties and their impact on daily life in narcolepsy type 1.
The cognitive difficulties experienced by individuals with narcolepsy type 1 (NT1), a rare and chronic neurological disorder, are understudied, with limited knowledge of their consequences in daily life. Here, we investigated the nature of cognitive difficulties and their consequences for daily life from the perspective of adults with NT1. In-depth, qualitative interviews were conducted with adults diagnosed with NT1 residing in the United States. Participants were recruited through (1) a patient advocacy organization (via social media and website); (2) a professional market research firm; and (3) participant referrals. Individual interviews were conducted by telephone, following a semi-structured guide, and lasted approximately 90 min. Qualitative analysis used an adapted grounded theory approach to identify key conceptual themes related to cognitive difficulties and their impacts on daily life. Of 46 participants, most reported experiencing some cognitive difficulties, with the most common being trouble remembering and difficulty with focus or sustained attention. Most participants characterized their difficulties with cognition as moderate or severe and reported these occurring daily. The qualitative findings informed the development of a conceptual model depicting cognitive difficulties and their broad impact on functioning and well-being in adults with NT1. Cognitive difficulties in adults with NT1 are frequent, severe, and described as interfering with daily life activities and well-being. These data highlight a clear need to assess cognitive function in people with NT1 and identify treatments that address NT1-associated cognitive symptoms.
Increased Numbers of CD4+ T-Cells in the Hypocretin/Orexin Region of Narcolepsy Type 1.
Narcolepsy type 1 (NT1) is presumed to be an autoimmune disorder caused by hypothalamic loss of hypocretin (Hcrt; orexin). In postmortem NT1 brains, we observed an 11-fold increase of CD4+ T-cells in the Hcrt region compared with control hypothalami, without a corresponding rise in CD8+ T-cells. CD4+ and CD8+ T-cell numbers were unchanged in other hypothalamic regions, including the paraventricular nucleus and median eminence, and in extra-hypothalamic areas such as the substantia nigra and locus coeruleus. Hcrt-region CD4+ T-cells expressed the tissue-resident memory markers CD49a and CXCR6. These findings support the autoimmune hypothesis of NT1. ANN NEUROL 2026.
Bioinformatics identification and experimental validation of hub genes associated with narcolepsy type 1.
Narcolepsy type 1 (NT1) is a chronic neurological disorder with a genetic predisposition, yet its precise molecular pathogenesis remains unclear. Despite increasing recognition of its clinical and genetic basis, the precise molecular mechanisms remain unclear. This study aimed to identify NT1-associated hub genes and investigate their biological functions and interactions through comprehensive bioinformatics analysis, followed by experimental validation. NT1-related microarray data (GSE21592) were retrieved from Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified using integrated analysis with R software and the GEO2R platform. Functional enrichment analyses for Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways were conducted using Database for Annotation, Visualization, and Integrated Discovery online tool. Protein-protein interaction (PPI) networks were constructed using STRING database and visualized with Cytoscape. Quantitative real-time PCR (qRT-PCR) was used to experimentally validate the expression of identified hub genes in NT1 patients. A total of 148 DEGs were identified. GO analysis revealed involvement primarily in biosynthesis, humoral immune response, viral gene expression, oxidoreductase activity, cytoplasmic translation, etc. KEGG analysis showed enrichment in oxidative phosphorylation, ribosomal pathways, thermogenesis, and glutathione metabolism pathways. Five hub genes - CREB1, PIK3R1, MED1, GATA3, and KDM5A - were identified from the PPI network. qRT-PCR validation confirmed significantly reduced expression of these genes in NT1 patients compared to healthy controls. Our study identified and experimentally validated five critical hub genes associated with NT1, providing new insights into its molecular mechanisms and highlighting potential therapeutic targets for future research and clinical intervention strategies.
Unravelling Narcolepsy: A Series of Complex Pediatric Cases.
Narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2) are rare, chronic neurologic disorders of hypersomnolence. Narcolepsy type 1 results from the selective loss of orexin-producing neurons, leading to markedly reduced levels of orexin neuropeptides in the brain and CSF. NT2 shares some symptoms with the former but has no orexin deficiency. Both disorders manifest as a spectrum of debilitating symptoms, including excessive daytime sleepiness (EDS), cataplexy (NT1 only), fragmented nocturnal sleep, sleep paralysis, and hallucinations. Diagnosis is particularly challenging, especially in pediatric patients. We describe 7 pediatric patients presenting with complex narcolepsy phenotype of EDS or cataplexy with a diverse array of comorbid genetic, neurologic, and neuropsychiatric conditions. These cases illustrate the diagnostic challenges in differentiating "primary narcolepsy" from "narcolepsy because of a medical disorder" (e.g., Prader-Willi Syndrome) or "narcolepsy associated with autism spectrum disorder or very early-onset schizophrenia." The patients underwent a comprehensive diagnostic workup, including polysomnography, multiple sleep latency testing (performed after wash-out of concomitant medications), brain magnetic resonance imaging, CSF hypocretin-1 assay, and, in case of consistent clues, autoimmune, and genetic testing. Ensuring accurate and prompt narcolepsy diagnosis allows effective and patient-centered management.
Glymphatic dysfunction and its association with clinical symptom severity in narcolepsy type 1: a case-control DTI-ALPS study.
Narcolepsy type 1 (NT1) is characterized by excessive daytime sleepiness and cataplexy, primarily caused by hypothalamic orexin deficiency. Beyond neurotransmitter dysregulation, recent evidence suggests that impaired metabolic waste clearance may contribute to its pathophysiology. This study aimed to assess glymphatic function in NT1 using diffusion tensor image analysis along the perivascular space (DTI-ALPS) and to explore its relationship with clinical and polysomnographic features. A total of 92 NT1 patients and 45 age- and sex-matched healthy controls underwent 3.0 T DTI and overnight polysomnography. The ALPS index was calculated to quantify glymphatic efficiency. Correlation and regression analyses examined associations between ALPS values and Epworth Sleepiness Scale (ESS), Multiple Sleep Latency Test (MSLT), and other clinical parameters. Receiver operating characteristic (ROC) analysis evaluated the predictive performance of ALPS for NT1 diagnosis. The ALPS index was significantly lower in NT1 patients than in controls (1.24 ± 0.07 vs. 1.33 ± 0.06, P < 0.001), indicating impaired glymphatic function. Reduced ALPS values correlated with higher ESS scores (r = − 0.39, P < 0.001), shorter MSLT latency (r = 0.36, P = 0.002), and greater cataplexy severity. Each 0.1-unit decrease in ALPS increased the odds of NT1 by 2.8-fold (adjusted OR = 2.78, 95% CI 1.43–5.41, P = 0.003). The ALPS index showed good diagnostic accuracy (AUC = 0.81), which improved when combined with MSLT (AUC = 0.87, P = 0.018). NT1 is associated with significant glymphatic dysfunction, and the degree of impairment correlates with symptom severity. The DTI-ALPS index provides a quantitative and noninvasive biomarker that may aid in disease evaluation and individualized management of narcolepsy. The online version contains supplementary material available at 10.1186/s12883-026-04669-z.
Publicações recentes
Functional Regression Methods for Estimating 24-Hour Ambulatory Blood Pressure and Heart Rate Parameters in Narcolepsy Type 1.
Aquaporin-4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders.
Impaired attention in pediatric narcolepsy type 1.
Narcolepsy type 1 following immune checkpoint inhibitor therapy for metastatic melanoma.
Classification of narcolepsy type 1 using machine learning on Stanford Cataplexy Questionnaire responses and HLA-DQB1∗06:02.
📚 EuropePMC285 artigos no totalmostrando 199
Patient-reported experiences of cognitive difficulties and their impact on daily life in narcolepsy type 1.
Frontiers in neurologyEffects of an orexin receptor 2-selective agonist on salivary secretion in rats.
Scientific reportsIncreased Numbers of CD4+ T-Cells in the Hypocretin/Orexin Region of Narcolepsy Type 1.
Annals of neurologyNarcolepsy type 1: an autoimmune disease.
Trends in molecular medicinePatient-reported outcome measures in central disorders of hypersomnolence: consensus of a sleep consortium/RARE-X expert working group.
Sleep advances : a journal of the Sleep Research SocietyMapping nocturnal arousal across sleep and pain disorders.
Scientific reportsTest-retest repeatability of the multiple sleep latency test in non-cataleptic hypersomnolence disorders.
Sleep medicineInitial validation of a pediatric cataplexy survey for children and adolescents with narcolepsy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineBioinformatics identification and experimental validation of hub genes associated with narcolepsy type 1.
Journal of clinical and translational scienceClinical significance of ADHD traits in central disorders of hypersomnolence.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineUnravelling Narcolepsy: A Series of Complex Pediatric Cases.
Neurology. Clinical practiceiSPHYNCS: Unsupervised Clustering in Questionnaires and Metadata Reveals Distinct Subtypes in the Narcolepsy Borderland.
Journal of sleep researchDifferential motor signatures in isolated and narcolepsy-related REM sleep behaviour disorder: a preliminary study.
Frontiers in neurologyHigh-resolution sleep fragmentation assessment in narcolepsy type 1 and their non-narcoleptic siblings: a 5-second mini-epoch study.
SleepGlymphatic dysfunction and its association with clinical symptom severity in narcolepsy type 1: a case-control DTI-ALPS study.
BMC neurologyDisorder-specific alterations of transient oscillatory dynamics during sleep across cortical and subcortical networks.
Scientific reportsIntelligence quotient in adults with idiopathic hypersomnia and narcolepsy type 1.
Sleep medicineResearch Progress in the Roles of Influenza A H1N1 Virus and Its Vaccine in the Pathogenesis of Narcolepsy Type 1.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeOrexin receptor 2 agonists: a pathophysiologic approach to narcolepsy type 1.
Annals of medicine and surgery (2012)Clinical and instrumental comparison between insufficient sleep syndrome and narcolepsy type 1.
Sleep medicineMass Spectrometry-Based Quantification of Orexin Species in Human Cerebrospinal Fluid Reveals Differential Dynamics Associated with Sleep.
medRxiv : the preprint server for health sciencesSerum Metabolomic Signatures of Dyslipidemia in Narcolepsy Type 1: A Multi-Center Cross-Sectional Study.
Nature and science of sleepCausality of blood metabolites and narcolepsy type 1: A Mendelian randomization study.
MedicineA Comprehensive Review of Current and Emerging Treatments for Narcolepsy Type 1.
Journal of clinical medicineThe Risks of Injury and Accident in Patients With Central Hypersomnia: A Cohort Study in Taiwan.
Journal of sleep researchEffects of Oveporexton, an Orexin Receptor 2-Selective Agonist, on Cognition in Narcolepsy Type 1: A Secondary Analysis of a Randomized Clinical Trial.
JAMA neurologyClinical pearls for the treatment of narcolepsy.
The mental health clinician'It's hard to feel this way every single day': patients' perspectives on the emotional burden of narcolepsy.
Frontiers in psychologyAnimal Models of Narcolepsy: From Orexin Deficiency to Immune Mechanisms and Regenerative Therapies.
Current issues in molecular biologyVery late-onset narcolepsy type 1: diagnosis in the ninth decade.
BMJ case reportsHypothalamic functional connectivity, depressive symptoms, and post-treatment SOREMPs in narcolepsy type 1: links to sleep latency and mediation mechanisms.
Translational psychiatryAssociation between lipopolysaccharide-binding protein levels and disease severity in pediatric narcolepsy: A cross-sectional study.
Sleep medicineCircadian Modulation of Sleep-Wake Behavior in Patients with Narcolepsy Type 1 and Idiopathic Hypersomnia.
Nature and science of sleepAttention and inhibition deficits in narcolepsy type 1: behavioral and electrophysiological markers.
Translational psychiatryOrexin Deficiency in Narcolepsy: Molecular Mechanisms, Clinical Phenotypes, and Emerging Therapeutic Frontiers.
Brain and behaviorUnderestimation of nocturnal sleep duration in central disorders of hypersomnolence: an underrecognized feature?
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineDynamic Functional Network Connectivity Patterns Distinguish Neurobiological Substrates of Narcolepsy Type 1 and Idiopathic Hypersomnia: Potential Biomarkers From Resting-State fMRI.
Journal of sleep researchDNA methylation and multi-omics profiling of T cells uncovers chemotactic pathways and proliferation-linked hypomethylation in narcolepsy type 1.
SleepFeasibility and efficacy of exercise training on sleep symptoms and comorbidities in narcolepsy type 1: a prospective interventional study.
SleepHypocretin: a promising target for the regulation of homeostasis.
Frontiers in neurosciencePrevalence and Factors Associated with Rapid Eye Movement-Related Obstructive Sleep Apnea in Patients with Narcolepsy.
Nature and science of sleepQuantification of electromyographic activity during REM sleep in Chinese narcolepsy patients and healthy controls: a comparative study.
Sleep & breathing = Schlaf & AtmungNarcolepsy 2025 (with an Australasian perspective).
Internal medicine journalFacial Emotion Recognition in Children With Narcolepsy Type 1.
Journal of sleep researchBeyond neuronal loss: epigenetic signatures bridging immune activation and sleep dysfunction in narcolepsy type 1.
SleepInitial experience and establishment of a hypersomnia board: A multidisciplinary approach to complex hypersomnia cases.
Sleep medicineAge at Onset and Delays in Diagnosis of Central Disorders of Hypersomnolence Over the Past 30 Years.
Journal of sleep researchNarcolepsy type 2 is an unstable diagnosis and idiopathic hypersomnia has the potential for remission-long-term and cross-sectional observations from the Bern Sleep-Wake Registry.
Sleep16-mer hypocretin-1/orexin-A in cerebrospinal fluid to diagnose narcolepsy.
SleepOrexin effect on physiological pulsations of the human brain.
Proceedings of the National Academy of Sciences of the United States of AmericaCorticotropin-Releasing Hormone (CRH) in Murine Narcolepsy: What Do Genetic and Immune Models Tell Us?
Journal of sleep researchThe inter-night variability of REM sleep without atonia in adult patients with central disorders of hypersomnolence.
Sleep medicineAbnormal brain functional network dynamics in narcolepsy type 1 patients.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyAlteration of Metabolic Profile in Patients with Narcolepsy Type 1.
MetabolitesCharacteristics of maintenance of wakefulness test in drug-naïve patients with narcolepsy type 1 and type 2, and relationship with other measures of sleepiness.
SleepEfficacy and safety of pitolisant in children above 6 years with narcolepsy.
Expert opinion on pharmacotherapyNarcolepsy and psychiatric comorbidity: a review of the literature.
International journal of clinical and health psychology : IJCHPNarcolepsy and cardiovascular health: A big picture perspective.
Sleep medicineThe Role of Actigraphy in the Assessment of Central Disorders of Hypersomnolence: A Systematic Review and Meta-Analysis.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesPresent and Future of Central Disorders of Hypersomnolence.
Journal of sleep researchProbability estimation of narcolepsy type 1 in DTA mice using unlabeled EEG and EMG data.
Sleep advances : a journal of the Sleep Research SocietyBenefits of oveporexton in narcolepsy type 1.
Nature reviews. NeurologyPhysical performance, health-related quality of life and sleepiness severity of an adult outpatient population with narcolepsy: A cross-sectional analysis.
International journal of clinical and health psychology : IJCHPSymptoms of central disorders of hypersomnolence during phases of female hormonal transitions: an explorative self-report study.
Sleep medicineThe prevalence, incidence, and impact of narcolepsy and idiopathic hypersomnia in Taiwan: comparison between the National Health Insurance Research Claims Database and a hospital cohort database.
SleepUnraveling the pathophysiology of narcolepsy type 1 through hypothesis-driven and hypothesis-generating approaches.
Seminars in immunologyOveporexton, an Oral Orexin Receptor 2-Selective Agonist, in Narcolepsy Type 1.
The New England journal of medicineGender disparities in cognitive impairment across neurological autoimmune disorders: a systematic review.
Frontiers in neurologyTranscutaneous auricular vagus nerve stimulation to treat narcolepsy type 1 (TARGET-NT1): A two-arm, randomised, sham-controlled trial.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsDiscovery of a New Class of Orexin 2 Receptor Agonists as a Potential Treatment for Narcolepsy.
Journal of medicinal chemistryPost-vaccination hypersomnia - occurrence of idiopathic hypersomnia and narcolepsy type 2 after Pandemrix vaccination in a case- series from Sweden and Finland.
Journal of the neurological sciencesCase Report: Narcolepsy patients masked behind obstructive sleep apnea syndrome (OSAS): report of 2 cases and literature review.
Frontiers in neuroscienceNarcolepsy Beyond Medication: A Scoping Review of Psychological and Behavioral Interventions for Patients with Narcolepsy.
Journal of clinical medicineElevated circulating cell-free mitochondrial DNA level in cerebrospinal fluid of narcolepsy type 1.
Brain communicationsSex effect on disease characteristics in patients with narcolepsy type 1.
SleepAn orexin agonist promotes wakefulness and inhibits cataplexy through distinct brain regions.
Current biology : CBNarcolepsy Is Associated With Subclinical Cardiovascular Disease as Early as Childhood: A Big Data Analysis.
Journal of the American Heart AssociationAltered functional connectivity and spatiotemporal dynamics in individuals with central disorders of hypersomnolence.
Frontiers in neuroscienceHard road to climb: blunted academic and professional trajectories and effort-reward imbalance for people with narcolepsy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineClinical and objective correlates of disrupted nighttime sleep in pediatric narcolepsy type 1.
Sleep medicineSex effect on time to diagnosis and clinical features of narcolepsy type 1 and 2.
Sleep medicineDiagnostic value of nocturnal sleep-onset rapid eye movement sleep period for narcolepsy type 1 and 2 in a tertiary sleep centre.
Sleep medicineSpectral and Microstate EEG Analysis in Narcolepsy Type 1 and Type 2 Across Sleep Stages.
Brain topographyEfficacy of Once-Nightly Sodium Oxybate in Patients with Narcolepsy: Post Hoc Analyses of Sensitivity, Effect Size, and Numbers Needed to Treat from the Phase 3 REST-ON Trial.
CNS drugsAssessing Early Efficacy After Initiation of Once-Nightly Sodium Oxybate (ON-SXB; FT218) in Participants with Narcolepsy Type 1 or 2: A Post Hoc Analysis from the Phase 3 REST-ON Trial.
CNS drugsA Survey of People Living with Narcolepsy in the USA: Path to Diagnosis, Quality of Life, and Treatment Landscape from the Patient's Perspective.
CNS drugsTherapeutic Use of γ-Hydroxybutyrate: History and Clinical Utility of Oxybates and Considerations of Once- and Twice-Nightly Dosing in Narcolepsy.
CNS drugsRising pressure to understand the risks of hypertension in children with narcolepsy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicinePhenotypic clusters of narcolepsy type 1: Insights from age of onset, weight gain, sleep patterns, and impulsivity.
Sleep medicineUse of Portable 24-Hour Polysomnography as Alternative Diagnostic Tool for Narcolepsy Type 1 in Adults and Children.
Neurology[Narcolepsy type 1 and hypocretin neurons].
Ugeskrift for laegerDeterminants of substance use patterns in patients with narcolepsy type 1: A multi-center comparative cross-sectional study.
Sleep medicineRegional cerebral blood perfusion impairment in type 1 narcolepsy patients: An arterial spin labeling study.
Sleep medicinePrevalence of narcolepsy in representative samples of the general population of North America, Europe, and South Korea.
Psychiatry researchQuality of life and its associates in narcolepsy 1 and 2 types and idiopathic hypersomnia.
Sleep medicineInterim analysis of a post-authorization safety study of pitolisant in treating narcolepsy: A real-world European study.
Sleep medicineMRI-based surrogates of brain clearance in narcolepsy type 1.
Journal of sleep researchPons metabolite alterations in narcolepsy type 1.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEffort/reward imbalance and comorbidities burden in academic and professional careers of patients with narcolepsy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAn inter-rater variability study between human and automatic scorers in 5-s mini-epochs of sleep.
Sleep medicineTreatment of Narcolepsy Type 1 With Orexin: A Systematic Review.
CureusRoles of cerebrospinal fluid metabolites in mediating the relationship between cathepsins and narcolepsy type 1: A comprehensive Mendelian randomization analysis.
Progress in neuro-psychopharmacology & biological psychiatryVery late onset narcolepsy type 1: a case report and review of the literature.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineZ hypnotics in the management of narcolepsy: a case series.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineVariability of excessive daytime sleepiness and cataplexy according to seasonality: A study in central disorders of hypersomnolence.
Journal of sleep researchOfatumumab treatment in new-onset narcolepsy type 1 following SARS-CoV-2 infection.
Annals of clinical and translational neurologyImpaired Vigilance in Patients with Narcolepsy Type 1: A Psychomotor Vigilance Task Study.
Nature and science of sleepThe Role of T Cells in the Pathogenesis of Narcolepsy Type 1: A Narrative Review.
International journal of molecular sciencesSocial support and isolation in narcolepsy and idiopathic hypersomnia: An international survey.
Sleep medicineIs CSF hypocretin level useful for differentiating narcolepsy type 1 and 2?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyPhysiological and psychological stress reactivity in narcolepsy type 1.
SleepMeasuring energy expenditure in narcolepsy using doubly labeled water and respiration chamber calorimetry.
SleepAssociations between T-cell traits and narcolepsy type 1: new insights from a Mendelian randomization study.
Frontiers in neurologyExploring the Literature on Narcolepsy: Insights into the Sleep Disorder That Strikes during the Day.
NeuroSciThe Lehigh Valley Health Network Narcolepsy Cohort: clinical and polysomnographic analysis of 304 cases.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicinePatient experiences of narcolepsy and idiopathic hypersomnia in the Nordics: a patient journey map.
Journal of sleep researchPsychiatric comorbidity in Danish patients with narcolepsy type 1, narcolepsy type 2, and idiopathic hypersomnia: a case-control study.
Sleep advances : a journal of the Sleep Research SocietyAlterations in the DTI-ALPS index and choroid plexus volume are associated with clinical symptoms in participants with narcolepsy type 1.
Sleep medicineImpaired sleep-dependent memory consolidation in pediatric narcolepsy type 1.
SleepCharacterizing disrupted nighttime sleep and associated functional outcomes in youth with narcolepsy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineInternational Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (iSPHYNCS): the impact of psychiatric comorbidities on daily life in central disorders of hypersomnolence-a vicious circle.
Journal of sleep researchProbabilistic sleep staging in MSLTs across hypersomnia disorders.
SleepPredicting Depression Among Chinese Patients with Narcolepsy Type 1: A Machine-Learning Approach.
Nature and science of sleepIncreased neutrophil-to-lymphocyte ratio as a possible marker to detect neuroinflammation in patients with narcolepsy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineCo-occurrence of anxiety and depressive symptoms, suicidal thoughts, and hopelessness in patients with narcolepsy type 1.
Sleep medicineAltered functional connectivity and spatiotemporal dynamics in individuals with sleep disorders.
bioRxiv : the preprint server for biologyTAK-861, a potent, orally available orexin receptor 2-selective agonist, produces wakefulness in monkeys and improves narcolepsy-like phenotypes in mouse models.
Scientific reportsRecent insights into the pathophysiology of narcolepsy type 1.
Sleep medicine reviewsCSF-profile and hypocretin levels in children with narcolepsy type 1 and 2.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyClinical features and mechanisms of neck myoclonus in narcolepsy.
Sleep medicineImmune Reconstitution Inflammatory Syndrome Due to HIV Treatment as a Potential Trigger: A Case Report with Late-Onset Narcolepsy.
Nature and science of sleepWeight Loss With Once-nightly Sodium Oxybate for the Treatment of Narcolepsy: Analysis From the Phase III Randomized study Evaluating the efficacy and SafeTy of a ONce nightly formulation of sodium oxybate (REST-ON) Trial.
Clinical therapeuticsInsights from a 10-year Australasian idiopathic hypersomnia patient data registry study.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAssociation between human leukocyte antigen class II-DR-DQ and narcolepsy: a case control study.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineMajor alteration of motor control during rapid eye movements sleep in mice models of sleep disorders.
SleepSerum N-Glycan Profiling of Patients with Narcolepsy Type 1 Using LC-MS/MS.
ACS omegaImprovements in daytime sleepiness and disrupted nighttime sleep with once-nightly sodium oxybate in people with narcolepsy type 1 and type 2: a plain language summary.
Journal of comparative effectiveness researchExploring the association between hypocretin-1 levels and bone mineral content in patients with narcolepsy: A cross-sectional study.
Sleep medicineAssociation between cytokines and symptoms of depression and anxiety in patients with type 1 narcolepsy.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaValidation and performance of the sleep inertia questionnaire in central disorders of hypersomnolence.
Sleep medicineThe nature and magnitude of cognitive impairment in narcolepsy type 1, narcolepsy type 2, and idiopathic hypersomnia: a meta-analysis.
Sleep advances : a journal of the Sleep Research SocietyCSF dynamics of orexin and β-amyloid42 levels in narcolepsy and Alzheimer's disease patients: a controlled study.
Neuroscience lettersInfection, vaccination and narcolepsy type 1: Evidence and potential molecular mechanisms.
Journal of neuroimmunologyAgeing-related modification of sleep and breathing in orexin-knockout narcoleptic mice.
Journal of sleep researchThe electroretinography to identify biomarkers of idiopathic hypersomnia and narcolepsy type 1.
Journal of sleep researchBarriers to therapy adherence in narcolepsy.
Sleep medicine[Constructing a cataplexy face prediction model for narcolepsy type 1 based on ResNet-18].
Zhonghua yi xue za zhiChild Neurology: Common Occurrence of Narcolepsy Type 1 and Myasthenia Gravis.
NeurologyNarcolepsy and rapid eye movement sleep.
Journal of sleep researchNovel biomarkers derived from the Maintenance of Wakefulness Test as predictors of sleepiness and response to treatment.
SleepImpaired cognition in narcolepsy: clinical and neurobiological perspectives.
SleepEvaluating routine blood and cerebrospinal fluid samples in narcolepsy patients.
Scandinavian journal of clinical and laboratory investigationHigh-resolution HLA sequencing and hypocretin receptor 2 autoantibodies in narcolepsy type 1 and type 2.
International journal of immunogeneticsThe value of using ELISA to detect orexin-A in cerebrospinal fluid in the diagnosis of narcolepsy.
MedicineThe Changed Nocturnal Sleep Structure and Higher Anxiety, Depression, and Fatigue in Patients with Narcolepsy Type 1.
Nature and science of sleepAn Unusual Cause of Increasing Excessive Daytime Sleepiness in a CPAP-treated Obstructive Sleep Apnea Patient.
Sleep science (Sao Paulo, Brazil)Machine learning-Based model for prediction of Narcolepsy Type 1 in Patients with Obstructive Sleep Apnea with Excessive Daytime Sleepiness.
Nature and science of sleepDevelopment and validation of a machine learning model for prediction of comorbid major depression disorder among narcolepsy type 1.
Sleep medicineNavigating narcolepsy: exploring coping strategies and their association with quality of life in patients with narcolepsy type 1.
Scientific reports"Oh My Sleeping Child" … Narcolepsy Type 1 in a 22-Month-Old Boy.
Child neurology openExecutive function performance in children and adolescent patients with narcolepsy type 1.
Sleep medicineChallenges in the Management of Narcolepsy in a Resource Limited Setting: A Case Report.
CureusCataplexy Mistaken for Seizures in a Patient With Undiagnosed Narcolepsy Type I.
CureusAutoimmune encephalitis mediated by postvaccination and infection of SARS-CoV-2 in a patient with a narcolepsy type 1.
Revista de neurologiaAtypical isolated cataplexy: two case reports and a mini-review.
NeurocaseMicroglia Density and Its Association With Disease Duration, Severity, and Orexin Levels in Patients With Narcolepsy Type 1.
NeurologyIdentifying time-resolved features of nocturnal sleep characteristics of narcolepsy using machine learning.
Journal of sleep researchSingle cell transcriptomics of cerebrospinal fluid cells from patients with recent-onset narcolepsy.
Journal of autoimmunityEffectiveness and optimization of low-sodium oxybate in participants with narcolepsy switching from a high-sodium oxybate: data from the Substitution of Equal Grams of Uninterrupted Xyrem to Xywav study.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineExploring sleep characteristics in Chinese patients with narcolepsy: insights from the nocturnal sleep onset rapid eye movement period (nSOREMP).
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineMRS study on the correlation between frontal GABA+/Glx ratio and abnormal cognitive function in medication-naive patients with narcolepsy.
Sleep medicineCataplexy response with extended-release once-nightly sodium oxybate: Post hoc responder analyses from the phase 3 REST-ON clinical trial.
Sleep medicine: XTetrad of Narcolepsy Type 1: Treatment and Management.
CureusThe Swiss Primary Hypersomnolence and Narcolepsy Cohort Study: feasibility of long-term monitoring with Fitbit smartwatches in central disorders of hypersomnolence and extraction of digital biomarkers in narcolepsy.
SleepTemporal patterns of sleep latency in central hypersomnia and attention deficit hyperactivity disorder: a cluster analysis exploration using Multiple Sleep Latency Test.
Frontiers in psychiatryTheory of Mind impairment in childhood narcolepsy type 1: a case-control study.
Brain communicationsEffectiveness of an intervention program on physical activity in children with narcolepsy type 1.
Sleep medicinePotential immunological triggers for narcolepsy and idiopathic hypersomnia: Real-world insights on infections and influenza vaccinations.
Sleep medicineAbsence of specific autoantibodies in patients with narcolepsy type 1 as indicated by an unbiased random peptide-displayed phage screening.
PloS oneCortical thickness and sub-cortical volumes in post-H1N1 narcolepsy type 1: A brain-wide MRI case-control study.
Sleep medicineAgrypnia Excitata and Supranuclear Vertical Gaze Palsy Linked to Anti-Ma Encephalitis.
Movement disorders clinical practiceEating disorders in narcolepsy type 1: Evidence from a cross-sectional Italian study.
Journal of sleep researchMicrostructural White Matter Abnormalities in Children and Adolescents With Narcolepsy Type 1.
Pediatric neurologySex disparities in clinical features and burden of narcolepsy type 1.
Journal of sleep researchCell-based vs enzyme-linked immunosorbent assay for detection of anti-Tribbles homolog 2 autoantibodies in Chinese patients with narcolepsy.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAssociation between cytokines and fatigue in patients with type 1 narcolepsy.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaDownregulation of hypocretin/orexin after H1N1 Pandemrix vaccination of adolescent mice.
SleepLate-onset narcolepsy type 1 comorbid with anti-IgLON5 disease in an older male patient.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineThe Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor.
CureusNarcolepsy Severity Scale-2 and Idiopathic Hypersomnia Severity Scale to better quantify symptoms severity and consequences in Narcolepsy type 2.
SleepIdentification of bidirectional causal links between gut microbiota and narcolepsy type 1 using Mendelian randomization.
SleepCase report: Excessive daytime sleepiness as a presenting manifestation of autoimmune glial fibrillary acidic protein astrocytopathy.
Frontiers in immunologyRole of Daytime Continuous Polysomnography in the Diagnosis of Pediatric Narcolepsy Type 1.
NeurologyPrevalence and incidence of narcolepsy symptoms in the US general population.
Sleep medicine: XConnecting the dots: An updated review of the role of autoimmunity in narcolepsy and emerging immunotherapeutic approaches.
Sleep medicineDosing and transition characteristics in people with narcolepsy transitioning from sodium oxybate to low-sodium oxybate: Data from the real-world TENOR study.
Sleep medicineWork productivity and activity impairment in patients with narcolepsy type 1.
Journal of sleep researchThe transcriptomics profiling of blood CD4 and CD8 T-cells in narcolepsy type I.
Frontiers in immunologyInvestigation of anti-neuronal antibodies and disparity in central hypersomnias.
Sleep medicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Narcolepsia tipo 1.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Narcolepsia tipo 1
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Patient-reported experiences of cognitive difficulties and their impact on daily life in narcolepsy type 1.
- Increased Numbers of CD4+ T-Cells in the Hypocretin/Orexin Region of Narcolepsy Type 1.
- Bioinformatics identification and experimental validation of hub genes associated with narcolepsy type 1.
- Unravelling Narcolepsy: A Series of Complex Pediatric Cases.
- Glymphatic dysfunction and its association with clinical symptom severity in narcolepsy type 1: a case-control DTI-ALPS study.
- Functional Regression Methods for Estimating 24-Hour Ambulatory Blood Pressure and Heart Rate Parameters in Narcolepsy Type 1.
- Aquaporin-4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders.
- Impaired attention in pediatric narcolepsy type 1.
- Narcolepsy type 1 following immune checkpoint inhibitor therapy for metastatic melanoma.
- Classification of narcolepsy type 1 using machine learning on Stanford Cataplexy Questionnaire responses and HLA-DQB1∗06:02.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2073(Orphanet)
- MONDO:0016158(MONDO)
- GARD:7162(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56026918(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
