HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10281316" target="_blank" >RIV/00216208:11110/14:10281316 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/14:10281316
Result on the web
<a href="http://dx.doi.org/10.5665/sleep.4066" target="_blank" >http://dx.doi.org/10.5665/sleep.4066</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5665/sleep.4066" target="_blank" >10.5665/sleep.4066</a>
Alternative languages
Result language
angličtina
Original language name
HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency
Original language description
DQB1*06:02. Settings: China (Peking University People's Hospital), Czech Republic (Charles University), Denmark (Golstrup Hospital), Italy (University of Bologna), Korea (Catholic University), and USA (Stanford University). Design: CSF hypocretin-1, DQB1*06:02, clinical and polysomnographic data were collected in narcolepsy patients (552 with and 144 without cataplexy) from 6 sites. Numbers of cases with and without DQB1*06:02 and low CSF hypocretin-1 were compiled. HLA class I (A, B, C), class II (DRBs, DQA1, DQB1, DPA1, and DPB1), and whole exome sequencing were conducted in 9 DQB1*06:02 negative cases with low CSF hypocretin-1. Sanger sequencing of selected exons in DNMT1, HCRT, and MOG was performed to exclude mutations in known narcolepsy-associated genes. Measurements and Results: Classic narcolepsy markers DQB1*06:02 and low CSF hypocretin-1 were found in 87.4% of cases with cataplexy, and in 20.0% without cataplexy. Nine cases (all with cataplexy) were DQB1*06:02 negative with
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Sleep
ISSN
0161-8105
e-ISSN
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Volume of the periodical
37
Issue of the periodical within the volume
10
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
1601-1608
UT code for WoS article
000343147400006
EID of the result in the Scopus database
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