Article
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
American journal of human genetics - 9 Sept 2011
Hor Hyun, Bartesaghi Luca, Kutalik Zoltán, Vicário José L, de Andrés Clara, Pfister Corinne, Lammers Gert J, Guex Nicolas, Chrast Roman, Tafti Mehdi, Peraita-Adrados Rosa
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
