Narcolepsy: an interface among neurology, immunology, sleep, and genetics
Narcolepsy is a primary disorder of the central nervous system resulting from genetic, environmental, and immunological interactions defined as excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation.
Fernando Morgadinho Santos Coelho
doaj +1 more source
Background Immune-related adverse events associated with immune checkpoint therapy cause autoimmune disease-like symptoms. People who carry specific genotypes or haplotypes of human leucocyte antigen (HLA) are known to be predisposed to develop ...
Shigehira Saji +7 more
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Comment on "Antibodies to influenza nucleoprotein cross-react with human hypocretin receptor 2". [PDF]
Did hypocretin receptor 2 autoantibodies cause narcolepsy with hypocretin deficiency in Pandemrix-vaccinated children, as suggested by Ahmed et al.? Using newly developed mouse models to report and inactivate hypocretin receptor expression, Vassalli et ...
Li, S., Tafti, M., Vassalli, A.
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Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
IgG abnormality in narcolepsy and idiopathic hypersomnia. [PDF]
BACKGROUND: A close association between narcolepsy and the Human Leukocyte Antigen (HLA)-DQB1*0602 allele suggests the involvement of the immune system, or possibly an autoimmune process. We investigated serum IgG levels in narcolepsy.
Susumu Tanaka, Makoto Honda
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Selective loss of GABAB receptors in orexin/hypocretin-producing neurons results in disrupted sleep/wakefulness architecture [PDF]
We generated mice with a selective loss of GABAB receptors in orexin neurons. Orexin neurons in these GABAB1<sup>-/-(orexin)</sup> mice showed reduced responsiveness to GABA<sub>A</sub> receptor agonists due to a ...
Bernard Bettler +10 more
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Human hypocretin and melanin-concentrating hormone levels are linked to emotion and social interaction. [PDF]
The neurochemical changes underlying human emotions and social behaviour are largely unknown. Here we report on the changes in the levels of two hypothalamic neuropeptides, hypocretin-1 and melanin-concentrating hormone, measured in the human amygdala ...
Behnke, Eric J +9 more
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Chinese Guidelines for the Diagnosis and Surgical Treatment of Adult Obstructive Sleep Apnea (2024)
ABSTRACT Obstructive sleep apnea (OSA) is a common chronic disorder characterized by abnormal breathing during sleeping. OSA can damage various organs throughout the body and is burdensome, both socially and economically. Moreover, as OSA has been increasingly studied in recent years, new evidence‐based guidelines for its diagnosis and surgical ...
Working Group of Guideline for the Diagnosis and Surgical Treatment of Adult OSA +7 more
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Central disorders of hypersomnolence in children and adults: A comparative study from South India
Background: Narcolepsy and idiopathic hypersomnolence (IHS) are rare disorders. In Western populations, the reported prevalence of narcolepsy is 0.02%–0.05%. In Indian subcontinent, there are few reports on narcolepsy and none on IHS so far.
Madhukar Trivedi +6 more
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Symptomatic Narcolepsy and Generalized Seizures Following Surgery for Rathke’s Cleft Cyst [PDF]
Symptomatic narcolepsy is a rare disorder caused by other underlying neurological disorders. One of the most frequent causes for symptomatic narcolepsy is brain tumors, usually in the region of the third ventricle and the diencephalon.
On-Hwa Ryu, Han Uk Ryu, Sang-Ahm Lee
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