Raras
Buscar doenças, sintomas, genes...
Narcolepsia
ORPHA:619284CID-10 · G47.41DOENÇA RARA

Um distúrbio do sono caracterizado por ter muita sonolência durante o dia, mesmo depois de ter dormido o suficiente à noite. As pessoas que sofrem dessa condição sentem muito cansaço e podem adormecer em momentos inadequados durante o dia.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Um distúrbio do sono caracterizado por ter muita sonolência durante o dia, mesmo depois de ter dormido o suficiente à noite. As pessoas que sofrem dessa condição sentem muito cansaço e podem adormecer em momentos inadequados durante o dia.

Pesquisas ativas
25 ensaios
164 total registrados no ClinicalTrials.gov
Publicações científicas
6.030 artigos
Último publicado: 2026 Jan-Dec
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: G47.41
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
4 sintomas
🧠
Neurológico
4 sintomas
📏
Crescimento
3 sintomas
🫁
Pulmão
2 sintomas
🫃
Digestivo
1 sintomas

+ 23 sintomas em outras categorias

Características mais comuns

Cataplexia
Anormalidade do desenvolvimento da boca
Período de movimento rápido dos olhos no início do sono
Sono REM anormal
Ataque de sono
Alucinações hipnagógicas
37sintomas
Sem dados (37)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.

CataplexiaCataplexy
Anormalidade do desenvolvimento da bocaHP:4000064
Período de movimento rápido dos olhos no início do sonoSleep onset rapid eye movement period
Sono REM anormalAbnormal rapid eye movement sleep
Ataque de sonoSleep attack

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico6.030PubMed
Últimos 10 anos200publicações
Pico2025117 papers
Linha do tempo
2026Hoje · 2026🧪 1996Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

8 genes identificados com associação a esta condição.

HCRTHypocretin neuropeptide precursorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Rough endoplasmic reticulumCytoplasmic vesicleSynapse

VIAS BIOLÓGICAS (2)
G alpha (q) signalling eventsOrexin and neuropeptides FF and QRFP bind to their respective receptors
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Hipotálamo
38.4 TPM
Brain Nucleus accumbens basal ganglia
0.5 TPM
Cérebro - Hemisfério cerebelar
0.4 TPM
Brain Caudate basal ganglia
0.4 TPM
Cerebelo
0.4 TPM
OUTRAS DOENÇAS (3)
narcolepsy 1narcolepsy-cataplexy syndromenarcolepsy without cataplexy
HGNC:4847UniProt:O43612
MOGMyelin-oligodendrocyte glycoproteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (4)
Maturation of spike proteinMaturation of spike proteinRegulation of CDH1 posttranslational processing and trafficking to plasma membraneN-glycan trimming in the ER and Calnexin/Calreticulin cycle
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Spinal cord cervical c-1
663.1 TPM
Substância negra
183.1 TPM
Hipocampo
148.4 TPM
Brain Putamen basal ganglia
104.8 TPM
Cérebro - Amígdala
81.5 TPM
OUTRAS DOENÇAS (2)
narcolepsy 7narcolepsy-cataplexy syndrome
HGNC:7197UniProt:Q16653
CTSHPro-cathepsin HCandidate gene tested inTolerante
FUNÇÃO

Important for the overall degradation of proteins in lysosomes

LOCALIZAÇÃO

Lysosome

VIAS BIOLÓGICAS (1)
Surfactant metabolism
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
251.6 TPM
Pulmão
169.3 TPM
Rim - Medula
128.9 TPM
Rim - Córtex
112.1 TPM
Cervix Endocervix
102.7 TPM
OUTRAS DOENÇAS (1)
narcolepsy-cataplexy syndrome
HGNC:2535UniProt:P09668
P2RY11P2Y purinoceptor 11Candidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
G alpha (q) signalling eventsG alpha (s) signalling eventsP2Y receptors
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
42.5 TPM
Skin Sun Exposed Lower leg
26.4 TPM
Skin Not Sun Exposed Suprapubic
24.9 TPM
Testículo
24.1 TPM
Tireoide
23.9 TPM
OUTRAS DOENÇAS (1)
narcolepsy-cataplexy syndrome
HGNC:8540UniProt:Q96G91
ZNF365TalaninCandidate gene tested inTolerante
FUNÇÃO

May play a role in uric acid excretion

LOCALIZAÇÃO

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Frontal Cortex BA9
36.5 TPM
Córtex cerebral
18.6 TPM
Brain Anterior cingulate cortex BA24
13.3 TPM
Cérebro - Hemisfério cerebelar
11.6 TPM
Brain Spinal cord cervical c-1
11.5 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (3)
narcolepsy-cataplexy syndromenarcolepsy without cataplexynephrolithiasis, uric acid, susceptibility to
HGNC:18194UniProt:Q70YC4
HLA-DRB1HLA class II histocompatibility antigen, DRB1 beta chainCandidate gene tested inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membraneLysosome membraneLate endosome membraneAutolysosome membrane

VIAS BIOLÓGICAS (7)
Generation of second messenger moleculesTranslocation of ZAP-70 to Immunological synapsePhosphorylation of CD3 and TCR zeta chainsCo-inhibition by PD-1Downstream TCR signaling
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
1832.6 TPM
Pulmão
1234.8 TPM
Baço
990.6 TPM
Intestino delgado
607.2 TPM
Nervo tibial
598.3 TPM
OUTRAS DOENÇAS (16)
narcolepsy-cataplexy syndromefollicular lymphomaVogt-Koyanagi-Harada diseasepediatric multiple sclerosis
HGNC:4948UniProt:P01911
TNFSF4Tumor necrosis factor ligand superfamily member 4Candidate gene tested inModerado
FUNÇÃO

Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
TNFs bind their physiological receptors
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
9.8 TPM
Fibroblastos
6.5 TPM
Testículo
5.3 TPM
Esôfago - Junção
4.2 TPM
Cérebro - Hemisfério cerebelar
3.7 TPM
OUTRAS DOENÇAS (3)
narcolepsy-cataplexy syndromesystemic lupus erythematosusmyocardial infarction, susceptibility to
HGNC:11934UniProt:P23510
HLA-DQB1HLA class II histocompatibility antigen, DQ beta 1 chainCandidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membraneGolgi apparatus, trans-Golgi network membraneEndosome membraneLysosome membrane

VIAS BIOLÓGICAS (1)
MHC class II antigen presentation
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
556.8 TPM
Pulmão
197.8 TPM
Baço
189.1 TPM
Tecido adiposo
82.7 TPM
Intestino delgado
75.3 TPM
OUTRAS DOENÇAS (8)
bullous pemphigoidpediatric multiple sclerosisidiopathic achalasianarcolepsy-cataplexy syndrome
HGNC:4944UniProt:P01920

Medicamentos aprovados (FDA)

3 medicamentos encontrados nos registros da FDA americana.

💊 Amphetamine Sulfate (AMPHETAMINE SULFATE)
💊 DEXTROAMPHETAMINE SACCHARATE, AMPHETAMINE ASPARTATE, DEXTROAMPHETAMINE SULFATE AND AMPHETAMINE SULFATE (DEXTROAMPHETAMINE SACCHARATE, AMPHETAMINE ASPARTATE, DEXTROAMPHETAMINE SULFATE AND AMPHETAMINE SULFATE)
💊 Modafinil (MODAFINIL)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

77 variantes patogênicas registradas no ClinVar.

🧬 HLA-DQB1: NM_002123.5(HLA-DQB1):c.110-247A>T ()
🧬 HLA-DQB1: NM_002123.5(HLA-DQB1):c.661+236G>C ()
🧬 HLA-DQB1: NM_002123.5(HLA-DQB1):c.772+518G>T ()
🧬 HLA-DQB1: NM_002123.5(HLA-DQB1):c.773-480G>T ()
🧬 HLA-DQB1: NM_002123.5(HLA-DQB1):c.661+223T>C ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 61 variantes classificadas pelo ClinVar.

12
40
9
Patogênica (19.7%)
VUS (65.6%)
Benigna (14.8%)
VARIANTES MAIS SIGNIFICATIVAS
DNMT1: NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) [Likely pathogenic]
DNMT1: NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) [Conflicting classifications of pathogenicity]
DNMT1: NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) [Likely pathogenic]
DNMT1: NM_001130823.3(DNMT1):c.1678C>T (p.Arg560Cys) [Conflicting classifications of pathogenicity]
DNMT1: NM_001130823.3(DNMT1):c.1756A>G (p.Ser586Gly) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 35
2Fase 24
·Pré-clínico11
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Narcolepsia

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07502443 · A Study to Evaluate the Efficacy and Safety of ALKS 2680 in …Recrutando
PHASE3
NCT07455383 · A Study to Evaluate the Efficacy and Safety of ALKS 2680 in …Recrutando
PHASE3
NCT07096674 · A Long-term Extension Study of ORX750 in Participants With N…Recrutando
PHASE2
NCT06279247 · Proteomics and Metabolomics of Body Fluid in Patients With N…Recrutando
NCT07363720 · A Trial of TAK-861 for the Treatment of Narcolepsy With Cata…Recrutando
PHASE3
NCT05816382 · A Study of TAK-861 for the Treatment of Selected Central Hyp…Recrutando
PHASE2, PHASE3
NCT07299097 · Epidemiology of Narcolepsy Type 1 and Type 2 in SpainRecrutando
NCT06767683 · A Long-Term Study of ALKS 2680 in Subjects With Narcolepsy a…Recrutando
PHASE2, PHASE3
NCT07365566 · Pain Assessment in Patients With Idiopathic REM Sleep Behavi…Recrutando
NA
NCT06952699 · A Study of TAK-360 in Adults With Narcolepsy Without Cataple…Recrutando
PHASE2
NCT04806620 · Unhide® Project: A Digital Health Platform to Collect Lifest…Recrutando
NCT06292598 · Bacterial Translocation and Gut Microbiota in Type 1 Narcole…Recrutando
NCT06809803 · Extended-release Sodium Oxybate in ChildrenRecrutando
PHASE2
NCT06752668 · A Study of ORX750 in Participants With Narcolepsy and Idiopa…Recrutando
PHASE2
NCT07006233 · A Novel Approach to Manage Symptoms of Narcolepsy and Idiopa…Recrutando
NA
NCT05536011 · WAKIX® (Pitolisant) Pregnancy RegistryRecrutando
NCT01793168 · Rare Disease Patient Registry & Natural History Study - Coor…Recrutando
NCT06797284 · The Impact of Light, Electrical, and Magnetic Neuroregulatio…Recrutando
NA
NCT06457945 · Mind-wandering and Predictive Processes in Narcolepsy: a Put…Recrutando
NA
NCT05371483 · Cardiovascular and Cognitive Implications of Central Disorde…Por convite

Outros ensaios clínicos

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
2.630 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.630

#1

Patient-reported experiences of cognitive difficulties and their impact on daily life in narcolepsy type 1.

Frontiers in neurology2026

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.

#2

Increased Numbers of CD4+ T-Cells in the Hypocretin/Orexin Region of Narcolepsy Type 1.

Annals of neurology2026 Mar 14

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.

#3

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.

medRxiv : the preprint server for health sciences2026 Feb 18

Lysosomal dysfunction is central to Parkinson's disease pathogenesis, with GBA1 as the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid and ceramide metabolism have been proposed as contributors to Parkinson's disease, underscoring the need for comprehensive genetic analyses across these pathways. We analysed rare variants (minor allele frequency < 0.01) across 36 lysosomal genes (excluding GBA1) in 8,267 individuals with Parkinson's disease and 68,208 controls, including a subset of 793 early-onset Parkinson's disease (≤50 years) cases. Targeted sequencing was performed in four cohorts at McGill University (3,456 Parkinson's disease patients and 2,664 controls) and results were combined with whole-genome sequencing data from the UK Biobank (2,848 cases, 62,451 controls), and from the Accelerating Medicines Partnership - Parkinson's Disease (1,963 cases, 3,093 controls). We analysed the association of rare variants in these genes with Parkinson's disease using Sequence Kernel Association Test-Optimal (SKAT-O) across variant classes (all rare variants, nonsynonymous, loss-of-function and predicted damaging variants with a Combined Annotation Dependent Depletion (CADD) score >20), with meta-analysis across cohorts. We additionally performed per-domain analyses for variants in gene segments encoding functional domains. False discovery rate correction was applied. Meta-analysis identified a significant association between rare variants in ST3GAL3 and Parkinson's disease (Pfdr=0.04). Several additional lysosomal genes showed nominal associations (P<0.05), including HGSNAT, ASAH1, CTSD, HEXA, ST3GAL4 and SGPP1. Domain-based analyses identified a strong enrichment of nonsynonymous variants within the beta-acetyl-hexosaminidase-like domain of HEXA (P = 8.0 × 10), although this signal did not survive correction for multiple testing (Pfdr=0.154). In early-onset Parkinson's disease, domain-based analyses revealed significant associations in NAGLU (Pfdr=7.3×10) and ST3GAL5 (Pfdr=0.03). Together, these results provide genetic evidence that rare variants across multiple lysosomal pathways, particularly those related to sialylation, ganglioside metabolism, ceramide biology, and lysosomal proteolysis, may contribute to Parkinson's disease susceptibility beyond GBA1, highlighting biologically coherent pathways for future replication and functional investigation.

#4

How sleeping minds decide: State-specific reconfigurations of lexical decision-making.

PLoS computational biology2026 Feb

Sleep has traditionally been conceptualized as a state of cognitive disconnection, yet emerging evidence indicates that decision-making capacities persist across sleep stages. Here, we elucidate the computational mechanisms underlying real-time lexical decision-making during polysomnographically-verified sleep, using facial electromyography and hierarchical drift diffusion modeling in both healthy individuals and participants with narcolepsy. We found that lexical decision-making was preserved during N1 and lucid REM sleep, but relied on distinct computational strategies: in N1 sleep, both enhanced sensory-motor processing and increased evidence accumulation supported decisions about words, whereas in lucid REM sleep, lexical decisions were driven exclusively by evidence accumulation processes. Cross-state comparisons revealed two fundamental principles: (1) Selective preservation-during N1 sleep, lexical decisions for words were maintained while those for pseudowords were selectively impaired, indicating that cognitive resources during sleep are preferentially allocated to meaningful stimuli; (2) Parallel strategic adaptations-during lucid REM sleep, participants increased their decision thresholds, requiring more evidence before responding, which helped maintain accuracy even though the efficiency of evidence accumulation was reduced. Our findings demonstrate that, rather than a passive decline, sleep involves dynamic and state-specific reconfiguration of the computational mechanisms underlying decision-making, with important implications for understanding consciousness and cognitive flexibility.

#5

Bioinformatics identification and experimental validation of hub genes associated with narcolepsy type 1.

Journal of clinical and translational science2026

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC3.387 artigos no totalmostrando 198

2026

A longitudinal assessment of sleep architecture in children and adolescents with craniopharyngioma.

Sleep advances : a journal of the Sleep Research Society
2026

Association of GLP-1 Receptor Agonist Use with Hypersomnolence: A Real-world Cohort Analysis.

Journal of diabetes and metabolic disorders
2026

Patient-reported experiences of cognitive difficulties and their impact on daily life in narcolepsy type 1.

Frontiers in neurology
2026

An updated systematic review and meta-analysis of modafinil for excessive daytime sleepiness in narcolepsy.

Sleep medicine: X
2026

Effects of an orexin receptor 2-selective agonist on salivary secretion in rats.

Scientific reports
2026

Effectiveness and Safety of Low-Sodium Oxybate in Participants with Idiopathic Hypersomnia: Primary Results from the DUET Study.

CNS drugs
2026

Increased Numbers of CD4+ T-Cells in the Hypocretin/Orexin Region of Narcolepsy Type 1.

Annals of neurology
2026

Narcolepsy type 1: an autoimmune disease.

Trends in molecular medicine
2026

Investigation of the "Not Better Explained" Diagnosis Criteria in Sleep Disorder Classifications: A Systematic Content Analysis and Critical Review.

Journal of sleep research
2026

Patient-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 Society
2026

Effectiveness of Stimulant Treatment in Preventing Fractures and Head Injuries in Patients With Narcolepsy: A Self-Controlled Case Series Study.

Pharmacotherapy
2026

Mapping nocturnal arousal across sleep and pain disorders.

Scientific reports
2026

Test-retest repeatability of the multiple sleep latency test in non-cataleptic hypersomnolence disorders.

Sleep medicine
2026

[Therapeutic potential of histamine N-methyltransferase inhibition for the treatment of hypersomnia].

Nihon yakurigaku zasshi. Folia pharmacologica Japonica
2026

Homeostatic dysregulation of slow wave activity during sleep in Idiopathic Hypersomnia.

Sleep
2026

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.

medRxiv : the preprint server for health sciences
2026

Narcolepsy and metabolic disease: A meta-analytic synthesis.

Sleep medicine reviews
2026

Initial 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 Medicine
2026

How sleeping minds decide: State-specific reconfigurations of lexical decision-making.

PLoS computational biology
2026

Samelisant (SUVN-G3031), a histamine H3 receptor inverse agonist, as a potential treatment for narcolepsy: a phase-2 drug evaluation.

Expert opinion on investigational drugs
2026

Under-Recognition of Rapid Eye Movement Sleep Behavior Disorder in Younger Populations.

Sleep medicine clinics
2026

Disparities in Diagnosis of and Management of Narcolepsy and Idiopathic Hypersomnia.

Sleep medicine clinics
2026

Novel Cyclopentapyrrole Compounds as Orexin Receptor Agonists for Treating Sleep Disorders, namely, Narcolepsy and Hypersomnia.

ACS medicinal chemistry letters
2026

Ghrelin's role in sleep and sleep deprivation: a narrative review.

Frontiers in psychiatry
2026

Bioinformatics identification and experimental validation of hub genes associated with narcolepsy type 1.

Journal of clinical and translational science
2026

Epidemiology and Economic Burden of Sleep Disorders in Europe.

European journal of neurology
2026

Cataplexy-Like Episodes Following Suvorexant Use in a Non-Narcoleptic Patient: A Brief Report.

Journal of sleep research
2026

Clinical significance of ADHD traits in central disorders of hypersomnolence.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2025

Idiopathic hypersomnia is a 24-hour disorder.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2026

Clinical and polysomnographic changes in idiopathic hypersomnia ten years after the diagnosis.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2026

Unravelling Narcolepsy: A Series of Complex Pediatric Cases.

Neurology. Clinical practice
2026

Mazindol Immediate-Release/Sustained-Release (IR/SR): A 50-Year Legacy of Multifaceted Mechanisms and Emerging Therapeutic Potential.

Clinical drug investigation
2026

iSPHYNCS: Unsupervised Clustering in Questionnaires and Metadata Reveals Distinct Subtypes in the Narcolepsy Borderland.

Journal of sleep research
2026

An Unusual Case of Hypersomnolence.

Annals of African medicine
2026

Incidence and prevalence of obstructive sleep apnoea and narcolepsy in the UK: a population-based descriptive study.

Thorax
2026

[Chinese expert consensus on the clinical application of wake-promoting agents].

Zhonghua nei ke za zhi
2026

Microbial-Immune Interplay in CNS Autoimmune Diseases: Lessons from Animal Models and Clinical Studies.

European journal of immunology
2026

Perspectives on idiopathic hypersomnia: diagnostic challenges, unknown pathophysiological, and emerging therapeutic strategies.

Sleep
2025

Differential motor signatures in isolated and narcolepsy-related REM sleep behaviour disorder: a preliminary study.

Frontiers in neurology
2026

Pitolisant-associated mania - a case report.

BMC neurology
2026

Skin thermal dynamics and hypothalamic thermosensitivity dissociate REM sleep and cataplexy in narcolepsy.

Science translational medicine
2026

Interpreting the Study on Narcolepsy and Cardiovascular Outcomes: Expanding Clinical Perspectives.

Sleep
2026

High-resolution sleep fragmentation assessment in narcolepsy type 1 and their non-narcoleptic siblings: a 5-second mini-epoch study.

Sleep
2026

Glymphatic dysfunction and its association with clinical symptom severity in narcolepsy type 1: a case-control DTI-ALPS study.

BMC neurology
2026

A real-world study on the treatment of pediatric narcolepsy with pitolisant in China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

"A nano-enabled screen-printed paper-based electrochemical device with a 3D-printed wristband cassette design for selective and real-time detection of club drug amphetamine in complex matrices".

Biomedical microdevices
2026

Sleep, wake, and signaling: Functional profiling of orexin agonists and antagonists using newly developed orexin β-arrestin 2 and miniGαq recruitment assays.

European journal of pharmacology
2026

Disorder-specific alterations of transient oscillatory dynamics during sleep across cortical and subcortical networks.

Scientific reports
2025

Stiff Person Syndrome: A Case Report.

Cureus
2026

Clinical significance of nocturnal sleep onset REM periods in narcolepsy diagnosis and diagnostic stability.

Sleep and biological rhythms
2026

Toward better subcategorization of narcolepsy type 2.

Sleep and biological rhythms
2026

Delayed Emergence From Anesthesia After Esophagogastroduodenoscopy/Colonoscopy in an Adult Patient With Narcolepsy.

ACG case reports journal
2026

Sleep apnoea and its consequences: from animal models to precision medicine.

Sleep medicine
2026

Secondary narcolepsy and cognitive dysfunction related to craniopharyngioma: a case study.

BMC neurology
2026

Intelligence quotient in adults with idiopathic hypersomnia and narcolepsy type 1.

Sleep medicine
2026

Sleep neurology: pearls and pitfalls.

Practical neurology
2025

Circadian Variations in Cognitive Performance Among Patients With Narcolepsy and Obstructive Sleep Apnea: A Comparative Study.

Alpha psychiatry
2026

Clinical and socioeconomic burden among people with narcolepsy or idiopathic hypersomnia: A retrospective cohort analysis of the Danish National Patient Registry.

Sleep medicine
2025

Research 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 Sinicae
2026

Orexin receptor 2 agonists: a pathophysiologic approach to narcolepsy type 1.

Annals of medicine and surgery (2012)
2026

Circadian rest-activity rhythm in patients with narcolepsy following modafinil treatment: Outcomes and predictive markers.

Sleep medicine
2025

Sleep Disorders and Nonalcoholic Fatty Liver Disease: Evidence From Meta-Analysis and Mendelian Randomization.

Journal of prevention (2022)
2025

[Huntington's disease presenting with schizophreniform psychosis and narcolepsy in the premotor phase].

Orvosi hetilap
2025

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.

JBMR plus
2025

Narcolepsy Associated With Streptococcal Infection: A Case Report and Literature Review.

Clinical case reports
2026

Clinical and instrumental comparison between insufficient sleep syndrome and narcolepsy type 1.

Sleep medicine
2026

Sleep stage classification from ECG using machine learning: Evaluating the impact of signal duration.

Neurobiology of sleep and circadian rhythms
2025

Mass Spectrometry-Based Quantification of Orexin Species in Human Cerebrospinal Fluid Reveals Differential Dynamics Associated with Sleep.

medRxiv : the preprint server for health sciences
2025

Serum Metabolomic Signatures of Dyslipidemia in Narcolepsy Type 1: A Multi-Center Cross-Sectional Study.

Nature and science of sleep
2025

Causality of blood metabolites and narcolepsy type 1: A Mendelian randomization study.

Medicine
2026

Histamine N-methyltransferase inhibition as a novel therapeutic strategy for idiopathic hypersomnia.

European journal of pharmacology
2025

Bupropion for Treatment of Depression and Narcolepsy in a Postpartum Patient.

The primary care companion for CNS disorders
2026

Neuroimaging findings in sleep disorders: A review article.

Neurobiology of sleep and circadian rhythms
2026

Lack of association between G6PD variants and Parkinson disease.

HGG advances
2025

A Comprehensive Review of Current and Emerging Treatments for Narcolepsy Type 1.

Journal of clinical medicine
2026

Assessing Condition-Specific Adverse Event Profiles of Modafinil for Labelled and Off-Label Uses: A Systematic Review and Meta-Analysis.

Basic &amp; clinical pharmacology &amp; toxicology
2025

HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity.

Proceedings of the National Academy of Sciences of the United States of America
2025

The Risks of Injury and Accident in Patients With Central Hypersomnia: A Cohort Study in Taiwan.

Journal of sleep research
2026

Effects of Oveporexton, an Orexin Receptor 2-Selective Agonist, on Cognition in Narcolepsy Type 1: A Secondary Analysis of a Randomized Clinical Trial.

JAMA neurology
2025

Clinical pearls for the treatment of narcolepsy.

The mental health clinician
2025

Narcolepsy: Pathophysiology, Diagnosis, Management, and Future Directions, a Narrative Review.

Brain and behavior
2026

Tactile Hallucinations in Pediatric and Young Adults With Narcolepsy: A Case Series and Review of the Literature.

Pediatric neurology
2026

Classification and clustering on nocturnal polysomnography: distinctions and overlaps between central disorders of hypersomnolence.

Sleep
2025

Lack of epistatic interaction of SNCA with APOE in synucleinopathies.

Brain communications
2025

Archetypal Analysis for the Characterization of Distinct Patterns in Mouse Sleep Data.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

From Normal Variation in Sleep to Clinical Sleep Disorders: Genetic Insights from Over One Million Individuals.

medRxiv : the preprint server for health sciences
2026

Artificial intelligence and sleep medicine II: A scoping review of applications, advancements, and future directions.

Sleep medicine reviews
2025

Sleep disturbances in craniopharyngioma: a systematic review and meta-analysis.

Pituitary
2026

Efficacy and Safety of Pitolisant for Excessive Daytime Sleepiness in Narcolepsy and Obstructive Sleep Apnea: An Updated Systematic Review and Meta-Analysis of Randomized Controlled Trials.

The Annals of pharmacotherapy
2025

'It's hard to feel this way every single day': patients' perspectives on the emotional burden of narcolepsy.

Frontiers in psychology
2025

Cannabis Use in Central Disorders of Hypersomnolence in the Netherlands.

Medical cannabis and cannabinoids
2025

Sleep time and SOREMPs features support idiopathic hypersomnia and narcolepsy type 2 as a single disease entity.

Sleep
2025

Animal Models of Narcolepsy: From Orexin Deficiency to Immune Mechanisms and Regenerative Therapies.

Current issues in molecular biology
2025

Tablet-Assisted Speech and Language Therapy for Acute Post-Stroke Aphasia: A Randomized Clinical Trial (LEXI Study).

European journal of neurology
2025

Risk of neurologic or immune-mediated adverse events after COVID-19 diagnosis in the United States.

PloS one
2025

The incidence, prevalence and treatment of narcolepsy in New Zealand.

The New Zealand medical journal
2025

Development of Novel 18F‑Labeled Selective Orexin‑2 Receptor Radioligands for Positron Emission Tomography.

ACS pharmacology &amp; translational science
2025

Very late-onset narcolepsy type 1: diagnosis in the ninth decade.

BMJ case reports
2025

"My Partner Just Wants to Sleep": A Qualitative Study of the Experience of Living with a Partner with Narcolepsy or Idiopathic Hypersomnia.

Behavioral sleep medicine
2025

Hypothalamic functional connectivity, depressive symptoms, and post-treatment SOREMPs in narcolepsy type 1: links to sleep latency and mediation mechanisms.

Translational psychiatry
2025

Comparative efficacy of new wake-promoting agents for narcolepsy-a network meta-analysis.

BMC neurology
2025

Altered Sleep Patterns in Wilson's Disease Including Shortened REM Latency.

Diagnostics (Basel, Switzerland)
2025

A new decision-making approach for residual excessive daytime sleepiness in patients treated for OSAHS: the Blob-Algorithm proposition.

Sleep
2026

Association between lipopolysaccharide-binding protein levels and disease severity in pediatric narcolepsy: A cross-sectional study.

Sleep medicine
2025

Circadian Modulation of Sleep-Wake Behavior in Patients with Narcolepsy Type 1 and Idiopathic Hypersomnia.

Nature and science of sleep
2025

Prolintane analogs as hybrid monoamine transporter ligands: Structural determinants and species differences.

The Journal of biological chemistry
2025

Impact of neuromodulation on excessive daytime sleepiness: a narrative review.

Frontiers in psychiatry
2025

Attention and inhibition deficits in narcolepsy type 1: behavioral and electrophysiological markers.

Translational psychiatry
2025

Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
2025

Sleep Disorders, Dysregulation of Circadian Rhythms, and Fatigue After Craniopharyngioma-A Narrative Review.

Biomedicines
2025

Guidelines From the French-Speaking Society for Histocompatibility and Immunogenetics (SFHI) for Harmonisation of HLA Genotyping in Autoimmune Diseases, Drug Hypersensitivity and Pharmacogenetics.

HLA
2025

Mortality Risk Study Offers Good News for Patients With Narcolepsy.

JAMA
2026

The impact of sleep disturbance on post-transplant recovery and quality of life: Neural mechanisms and translational management strategies.

Behavioural brain research
2025

[Symptomatic Narcolepsy due to Neurological Disorders].

Brain and nerve = Shinkei kenkyu no shinpo
2025

[Pathophysiology of Narcolepsy].

Brain and nerve = Shinkei kenkyu no shinpo
2025

[Autoimmune Encephalitis and Associated Sleep Disorders].

Brain and nerve = Shinkei kenkyu no shinpo
2025

[Neural Circuit Mechanisms Underlying REM Sleep].

Brain and nerve = Shinkei kenkyu no shinpo
2025

Effects of High- Versus Low-Sodium Oxybate on Blood Pressure in Patients With Narcolepsy.

Hypertension (Dallas, Tex. : 1979)
2025

Sleep disturbances in brain tumors: a narrative review.

Frontiers in oncology
2025

Assessing sleep disorders in neuromyelitis optica spectrum disorder: A comparison of qualitative and quantitative approaches.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Orexin Deficiency in Narcolepsy: Molecular Mechanisms, Clinical Phenotypes, and Emerging Therapeutic Frontiers.

Brain and behavior
2025

All-Cause and Cause-Specific Mortality Among Patients With Narcolepsy.

JAMA network open
2026

Stridor Is an Independent Risk Factor for Mortality and Disease Progression in Patients with Multiple System Atrophy.

Movement disorders : official journal of the Movement Disorder Society
2025

Improving Daytime Sleepiness in Children and Adolescents With Narcolepsy: A Quality Improvement Initiative.

Pediatric neurology
2025

Challenges and methodological considerations for research on the role of sleep stage transitions in altered affective processing.

Sleep advances : a journal of the Sleep Research Society
2026

Using Real-time Reporting to Investigate Visual Experiences in Dreams.

Journal of cognitive neuroscience
2025

Underestimation 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 Medicine
2025

Orexin 1-16 as the stable metabolite behind low CSF orexin/hypocretin immunoreactivity in narcolepsy.

Sleep
2025

Pharmacovigilance Insights into Ibuprofen's Neuropsychiatric Safety: A Retrospective Analysis of EudraVigilance Reports.

Pharmaceuticals (Basel, Switzerland)
2025

The role of orexin and MCH neurons in the hypothalamus in sleep-wake regulation and learning-forgetting balance.

Frontiers in neuroscience
2025

Association between cytokines and neuropsychiatric symptoms in paediatric narcolepsy patients: a cross-sectional study.

BMC neurology
2025

Understanding idiopathic hypersomnia: diagnosis, pathophysiology, and management.

Current opinion in pulmonary medicine
2025

How golden age Arab-Islamic scholars revolutionized sleep physiology and dream analysis.

Journal of Taibah University Medical Sciences
2026

Dynamic Functional Network Connectivity Patterns Distinguish Neurobiological Substrates of Narcolepsy Type 1 and Idiopathic Hypersomnia: Potential Biomarkers From Resting-State fMRI.

Journal of sleep research
2026

Physical activity: a safe step toward better quality of life in narcolepsy.

Sleep
2025

Post-marketing safety of solriamfetol: A retrospective pharmacovigilance study based on the us food and drug administration adverse event reporting system.

PloS one
2025

Central disorders of hypersomnolence - A narrative review on current and potential biomarkers.

Sleep medicine reviews
2025

DNA methylation and multi-omics profiling of T cells uncovers chemotactic pathways and proliferation-linked hypomethylation in narcolepsy type 1.

Sleep
2025

Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links.

medRxiv : the preprint server for health sciences
2025

Phasic events, cyclic alternating pattern (CAP) and sleep disorders.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

Solriamfetol improves daily fatigue symptoms in adults with myalgic encephalomyelitis/chronic fatigue syndrome after 8 weeks of treatment.

Journal of psychopharmacology (Oxford, England)
2025

Hummingbird sign in a patient with DNMT1-related disorder.

Neurocase
2026

Feasibility and efficacy of exercise training on sleep symptoms and comorbidities in narcolepsy type 1: a prospective interventional study.

Sleep
2025

Hypocretin: a promising target for the regulation of homeostasis.

Frontiers in neuroscience
2025

REM Density, Leg Movements, and REM Sleep without Atonia: Differentiating Type 1 from Type 2 Narcolepsy Through Polysomnographic Analysis, a Preliminary Study.

Nature and science of sleep
2025

Sleep Paralysis: Pathogenesis, Clinical Manifestations, and Treatment Strategies.

Journal of integrative neuroscience
2025

Dissolution of Once-Nightly Sodium Oxybate in Soft Foods and Alternative Liquid Reconstitution Vehicles.

Clinical therapeutics
2025

Prevalence and Factors Associated with Rapid Eye Movement-Related Obstructive Sleep Apnea in Patients with Narcolepsy.

Nature and science of sleep
2025

A comprehensive study on drug-related Raynaud's phenomenon based on the FDA adverse event reporting system.

Scientific reports
2025

Unique Polysomnography Pattern Leading to the Diagnosis of Anti-Ma2 Encephalitis.

Neurology(R) neuroimmunology &amp; neuroinflammation
2025

Localized and historical hypermobile spectrum disorders share self-reported symptoms and comorbidities with hEDS and HSD.

Frontiers in medicine
2025

Quantification of electromyographic activity during REM sleep in Chinese narcolepsy patients and healthy controls: a comparative study.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

Decoding ligand recognition and constitutive activation of histamine H3 and H4 receptors.

Acta pharmacologica Sinica
2025

Narcolepsy 2025 (with an Australasian perspective).

Internal medicine journal
2026

Facial Emotion Recognition in Children With Narcolepsy Type 1.

Journal of sleep research
2025

Transforming sleep medicine: the evolving role of artificial intelligence.

Current opinion in pulmonary medicine
2026

Once-Nightly Sodium Oxybate Meets American Academy of Sleep Medicine Criteria for Treatment of Narcolepsy.

Journal of sleep research
2025

Beyond neuronal loss: epigenetic signatures bridging immune activation and sleep dysfunction in narcolepsy type 1.

Sleep
2025

Hypocretin/orexin peptide release occurs mostly extrasynaptically, is self-controlled, and specifically enhanced in female rats.

Experimental neurology
2025

Usefulness of the adult concentration inventory in the psychological assessment of adult sleep disorder patients.

Sleep medicine
2025

The impacts of sleep loss on wake-active neurons.

Sleep
2025

Selective modulation of orexinergic receptors by neem-derived phytochemicals: Computational analysis of structure-activity relationships.

Toxicology reports
2025

Narcolepsy and risk of cardiovascular outcomes: getting to the heart of the matter.

Sleep
2025

Initial experience and establishment of a hypersomnia board: A multidisciplinary approach to complex hypersomnia cases.

Sleep medicine
2026

Age at Onset and Delays in Diagnosis of Central Disorders of Hypersomnolence Over the Past 30 Years.

Journal of sleep research
2025

Restless Legs Syndrome, Periodic Leg Movements, Hypertension and Cardiovascular Diseases.

Circulation research
2026

Narcolepsy 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.

Sleep
2025

Molecular Pathways Potentially Involved in Hallucinatory Experiences During Sleep Paralysis: The Emerging Role of β-Arrestin-2.

International journal of molecular sciences
2025

16-mer hypocretin-1/orexin-A in cerebrospinal fluid to diagnose narcolepsy.

Sleep
2025

The Clinical and Economic Burden of Idiopathic Hypersomnia and Narcolepsy: A United States Claims-Based Analysis.

Nature and science of sleep
2025

Neuroinflammation distinguishes HLA haplotypes in progressive supranuclear palsy.

medRxiv : the preprint server for health sciences
2025

Beyond Pediatric Sleep Disorders: A Case of Hypersomnia Revealing Hashimoto's Encephalopathy.

Cureus
2025

Leading orexin receptor agonist clears phase III for narcolepsy.

Nature reviews. Drug discovery
2025

Telomere length in sleep disorders.

Experimental gerontology
2025

Orexin effect on physiological pulsations of the human brain.

Proceedings of the National Academy of Sciences of the United States of America
2025

Research progress in sleep disorders associated with multiple sclerosis.

Multiple sclerosis and related disorders
2025

Quality measures for care of patients with narcolepsy: 2025 update after measure maintenance.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2025

Driving Safety among Adolescents with Health Conditions: An Integrative Review.

Journal of transport &amp; health
2025

A Permutation Entropy Method for Sleep Disorder Screening.

Brain sciences
2026

Depressive symptoms and suicidal thoughts in idiopathic hypersomnia: a cross-sectional and longitudinal study.

Sleep
2026

Corticotropin-Releasing Hormone (CRH) in Murine Narcolepsy: What Do Genetic and Immune Models Tell Us?

Journal of sleep research
2025

Artificial Intelligence Chatbots and Narcolepsy: Friend or Foe for Patient Information?

European neurology
2025

The inter-night variability of REM sleep without atonia in adult patients with central disorders of hypersomnolence.

Sleep medicine
2025

Current insights into the safety and adverse effects of methylphenidate in children, adolescents, and adults - narrative review.

Pharmacological reports : PR
2025

Corrigendum to "Factors associated with diagnostic delay in narcolepsy: Real-world data from a Korean multicenter study" [Sleep Med 133 (2025) 106646].

Sleep medicine
2026

Management of Insomnia Complaints by Non-Sleep Specialist Physicians: A French DELPHI Consensus.

Journal of sleep research
2025

Green spectrofluorimetric method for quantification of sodium oxybate in pharmaceutical and plasma samples.

Scientific reports
2025

Integrative evidence linking excessive daytime sleepiness, narcolepsy, and hypertension: insights from NHANES, Mendelian randomization, and proteomics.

European journal of medical research
2025

Discovery of natural orexin 2 receptor antagonists from Valeriana species: A potential approach for insomnia treatment.

Chronobiology international
2025

Evaluating the safety of XBB.1.5-containing COVID-19 mRNA vaccines using a self-controlled case series study.

Nature communications
2025

Relationship between sleep characteristics and aortic aneurysm/dissection: a two-sample Mendelian randomisation study.

BMJ open
2025

Narcolepsy and risk of cardiovascular outcomes beyond stimulant use.

Sleep
2025

Molecular Insights into the Interaction of Orexin 1 Receptor Antagonists: A Comprehensive Study Using Classical and Quantum Computational Methods.

Molecules (Basel, Switzerland)
2025

Narcolepsy: a machine learning bibliometric analysis (1996-2024).

Frontiers in neurology
2025

Abnormal brain functional network dynamics in narcolepsy type 1 patients.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

A path analysis of factors influencing life satisfaction among patients with narcolepsy in Japan.

GHM open
2025

Non-obstructive sleep apnea pediatric sleep disorders: what the otolaryngologist should know.

Current opinion in otolaryngology &amp; head and neck surgery
2025

The burden of narcolepsy symptoms from patients' perspective: a narrative qualitative study.

Sleep &amp; breathing = Schlaf &amp; Atmung
Ver todos os 3.387 no EuropePMC

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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.

  1. Patient-reported experiences of cognitive difficulties and their impact on daily life in narcolepsy type 1.
    Frontiers in neurology· 2026· PMID 41859399mais citado
  2. Increased Numbers of CD4+ T-Cells in the Hypocretin/Orexin Region of Narcolepsy Type 1.
    Annals of neurology· 2026· PMID 41830424mais citado
  3. Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
    medRxiv : the preprint server for health sciences· 2026· PMID 41757160mais citado
  4. How sleeping minds decide: State-specific reconfigurations of lexical decision-making.
    PLoS computational biology· 2026· PMID 41730041mais citado
  5. Bioinformatics identification and experimental validation of hub genes associated with narcolepsy type 1.
    Journal of clinical and translational science· 2026· PMID 41694065mais citado
  6. Functional Regression Methods for Estimating 24-Hour Ambulatory Blood Pressure and Heart Rate Parameters in Narcolepsy Type 1.
    Digit Biomark· 2026· PMID 41994626recente
  7. Aquaporin-4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders.
    Ann Clin Transl Neurol· 2026· PMID 41981775recente
  8. Clinical approaches to hypersomnolence complaints in psychiatry: A narrative review.
    Encephale· 2026· PMID 41963171recente
  9. Impaired attention in pediatric narcolepsy type 1.
    J Clin Sleep Med· 2026· PMID 41954826recente
  10. First orexin agonists address root cause of narcolepsy.
    Nat Biotechnol· 2026· PMID 41946869recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:619284(Orphanet)
  2. MONDO:0021107(MONDO)
  3. GARD:22460(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)

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

Narcolepsia
Compêndio · Raras BR

Narcolepsia

ORPHA:619284 · MONDO:0021107
CID-10
G47.41 · Distúrbios do sono
Ensaios
25 ativos
MedGen
UMLS
C0027404
Repurposing
3 candidatos
ephedrineadrenergic receptor agonist
ephedrine-(racemic)dopamine reuptake inhibitor
solriamfetol
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