The prevalence, characteristics, and potential determinants of sleep disturbances in adults with CdC syndrome using standardized and validated scales and questionnaires are investigated, emphasizing the need for systematic sleep screening and multidisciplinary management in this population.
Giulia Bellone, A. Di Napoli, C. Zilioli et al.· Sleep Medicine· 0 citations
A multidisciplinary approach integrating systematic screening for sleep disorders, optimization of antiseizure medication timing and selection, treatment of comorbid obstructive sleep apnea, and behavioral sleep interventions has the potential to meaningfully improve outcomes in patients with epilepsy.
Giulia Bellone, Martina Bonometti, Alice Rubeo et al.· Frontiers in Neurology· 0 citations
PPP1R21-related neurodevelopmental disorder (PPP1R21-NDD) is an ultra-rare autosomal-recessive encephalopathy caused by dysfunction of the Five-subunit Endosomal Rab5 and RNA/ribosome intermediarY (FERRY) complex. To delineate the clinical, neuroimaging, and molecular spectrum of PPP1R21-NDD and outline diagnostic and...
F. Comisi, G. Di Pasquale, A. Comisi et al.· Neurogenetics· 0 citations
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