Article

Whole-genome analysis of monozygotic twins discordant for type 1 narcolepsy

2021-08-30

Abstract excerpt

<h4>Summary</h4> Narcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. To contribute to the understanding of NT1 genetic causes, here we describe a whole-genome analysis of a monozygotic twin pair discordant for NT1. Our study revealed that although both twins have the same pathogenic mutations in NT1 associated gen...

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Literature Corpus work: 0f702359-b589-5905-a8f7-acc086e22195
DOI: 10.1101/2021.08.23.21262137

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