VENESELLI E.

Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome....

Whether PANS (pediatric acute-onset neuropsychiatric syndrome) and PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) represent true clinical entities is debated and data for a characteristic phenotype are still controversial. In this study, we aim to characterize clinical, neuropsychological, and...

Narcolepsy is characterised by excessive daytime sleepiness and abnormal features of rapid eye movement (REM) sleep such as cataplexy, sleep paralysis and hypnagogic hallucinations. It is rarely diagnosed in preteenaged children. The diagnosis can be delayed because of atypical and mild symptomatology in childhood; furthermore sleepiness may be...