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Article

Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population.

Journal of human genetics - 1 May 2014

Yamasaki Maria, Miyagawa Taku, Toyoda Hiromi, Khor Seik-Soon, Koike Asako, Nitta Aino, Akiyama Kumi, Sasaki Tsukasa, Honda Yutaka, Honda Makoto, Tokunaga Katsushi

Abstract excerpt

In humans, narcolepsy with cataplexy (narcolepsy) is a sleep disorder that is characterized by sleepiness, cataplexy and rapid eye movement (REM) sleep abnormalities. Narcolepsy is caused by a reduction in the number of neurons that produce hypocretin (orexin) neuropeptide. Both genetic and environmental factors contribute to the development of narcolepsy.Rare and large copy number variations (CNVs) reportedly...

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PMID: 24694762
DOI: 10.1038/jhg.2014.13

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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