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An Investigation of the Sleep Macrostructure of Girls with Rett Syndrome

SLEEP MEDICINE(2023)

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摘要
•Sleep investigation of a large sample of Rett Syndrome cases with MECP2 mutations.•A stratified analytic approach per genetic, clinical characteristics, and their severity.•Increased deep sleep and reduced REM-sleep are their phenotypic trait.•Sleep macrostructure abnormalities were salient with (psycho)motor impairments severity.•Possible poor sleep-on/off switching in Rett Syndrome cases with MECP2 mutations since embryogenesis.
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关键词
Sleep,Rett syndrome,Methyl-CpG-binding protein 2,Polysomnography
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