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Author

M. Carotenuto

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Review Aug 2026

Sleep disruption and neuropsychiatric features in Angelman syndrome: insights into underlying neurobiology.

The available evidence suggests that sleep disruption may be closely linked to the core neurological and behavioral features of AS, particularly epilepsy and behavioral abnormalities, through shared pathophysiological mechanisms related to UBE3A deficiency.

G. Terrone, M. Miano, M. Carotenuto et al. · 0 citations
Open access Jul 2026

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series

A retrospective multicenter case series of seven previously unreported individuals with heterozygous FBXW7 variants identified through clinical genetic testing expands the phenotypic spectrum associated with FBXW7-related neurodevelopmental disorder and highlights variable expressivity and incomplete penetrance.

Salvatore Savasta, F. Comisi, G. Dell’Isola et al. · 0 citations

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