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

作者：Hor Hyun; Bartesaghi Luca; Kutalik Zoltan; Vicario Jose L; de Andres Clara; Pfister Corinne; Lammers Gert J; Guex Nicolas; Chrast Roman; Tafti Mehdi^*; Peraita Adrados Rosa

来源：American Journal of Human Genetics, 2011, 89(3): 474-479.

DOI：10.1016/j.ajhg.2011.08.007

Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and cataplexy. Familial narcolepsy accounts for less than 100% 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.

• 出版日期2011-9-9