Ontology highlight
ABSTRACT:
SUBMITTER: Carotenuto M
PROVIDER: S-EPMC6915005 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Carotenuto Marco M Roccella Michele M Pisani Francesco F Matricardi Sara S Verrotti Alberto A Farello Giovanni G Operto Francesca Felicia FF Bitetti Ilaria I Precenzano Francesco F Messina Giovanni G Ruberto Maria M Ciunfrini Cristiana C Riccardi Mariagrazia M Merolla Eugenio E Pastorino Grazia Maria Giovanna GMG Polito Anna Nunzia AN Marotta Rosa R
Behavioural neurology 20191203
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-co ...[more]