NIH R01 · 2025
A cross-species approach to hypersomnia genetics informed by human GWAS
Idiopathic hypersomnia (IH) is a poorly understood disorder characterized by excessive daytime sleepiness despite normal nighttime sleep, often accompanied by difficulty awakening, unrefreshing sleep, and cognitive impairment. Once thought to be present in <1% of the population, recent work indicates a far greater prevalence, with underdiagnosis exacerbated by a limited understanding of this disorder. IH patients commonly report poor management of symptoms and impaired quality of life, and treatments are not based on disease etiology. Twin studies show that daytime sleepiness is between 37-48% heritable and family history of excessive sleepiness, IH, or other hypersomnia disorders is…
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