PMID- 30652006
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2054-345X (Print)
IS  - 2054-345X (Electronic)
IS  - 2054-345X (Linking)
VI  - 6
DP  - 2019
TI  - Genetics of narcolepsy.
PG  - 4
LID - 10.1038/s41439-018-0033-7 [doi]
LID - 4
AB  - Narcolepsy is a term that was initially coined by Gelineau in 1880 and is a 
      chronic neurological sleep disorder that manifests as a difficulty in maintaining 
      wakefulness and sleep for long periods. Currently, narcolepsy is subdivided into 
      two types according to the International Classification of Sleep Disorders, 3rd 
      edition: narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). NT1 is 
      characterized by excessive daytime sleepiness, cataplexy, hypnagogic 
      hallucinations, and sleep paralysis and is caused by a marked reduction in 
      neurons in the hypothalamus that produce orexin (hypocretin), which is a 
      wakefulness-associated neuropeptide. Except for cataplexy, NT2 exhibits most of 
      the same symptoms as NT1. NT1 is a multifactorial disease, and genetic variations 
      at multiple loci are associated with NT1. Almost all patients with NT1 carry the 
      specific human leukocyte antigen (HLA) allele HLA-DQB1 (*) 06:02. Genome-wide 
      association studies have uncovered >10 genomic variations associated with NT1. 
      Rare variants associated with NT1 have also been identified by DNA genome 
      sequencing. NT2 is also a complex disorder, but its underlying genetic 
      architecture is poorly understood. However, several studies have revealed loci 
      that increase susceptibility to NT2. The currently identified loci cannot explain 
      the heritability of narcolepsy (NT1 and NT2). We expect that future genomic 
      research will provide important contributions to our understanding of the genetic 
      basis and pathogenesis of narcolepsy.
FAU - Miyagawa, Taku
AU  - Miyagawa T
AD  - 1Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo 
      Metropolitan Institute of Medical Science, Tokyo, Japan. GRID: grid.272456.0
AD  - 2Department of Human Genetics, Graduate School of Medicine, The University of 
      Tokyo, Tokyo, Japan. ISNI: 0000 0001 2151 536X. GRID: grid.26999.3d
FAU - Tokunaga, Katsushi
AU  - Tokunaga K
AD  - 2Department of Human Genetics, Graduate School of Medicine, The University of 
      Tokyo, Tokyo, Japan. ISNI: 0000 0001 2151 536X. GRID: grid.26999.3d
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20190108
PL  - England
TA  - Hum Genome Var
JT  - Human genome variation
JID - 101652445
PMC - PMC6325123
COIS- The authors declare that they have no conflict of interest.
EDAT- 2019/01/18 06:00
MHDA- 2019/01/18 06:01
PMCR- 2019/01/08
CRDT- 2019/01/18 06:00
PHST- 2018/07/18 00:00 [received]
PHST- 2018/11/15 00:00 [revised]
PHST- 2018/11/18 00:00 [accepted]
PHST- 2019/01/18 06:00 [entrez]
PHST- 2019/01/18 06:00 [pubmed]
PHST- 2019/01/18 06:01 [medline]
PHST- 2019/01/08 00:00 [pmc-release]
AID - 33 [pii]
AID - 10.1038/s41439-018-0033-7 [doi]
PST - epublish
SO  - Hum Genome Var. 2019 Jan 8;6:4. doi: 10.1038/s41439-018-0033-7. eCollection 2019.