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A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

Authors
Journal
The American Journal of Human Genetics
0002-9297
Publisher
Elsevier
Publication Date
Volume
89
Issue
3
Identifiers
DOI: 10.1016/j.ajhg.2011.08.007
Disciplines
  • Medicine

Abstract

Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and cataplexy. Familial narcolepsy accounts for less than 10% of all narcolepsy cases. However, documented multiplex families are very rare and causative mutations have not been identified to date. To identify a causative mutation in familial narcolepsy, we performed linkage analysis in the largest ever reported family, which has 12 affected members, and sequenced coding regions of the genome (exome sequencing) of three affected members with narcolepsy and cataplexy.

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