GUARNIERI FC

Mutations in the PRRT2 gene are the main cause for a group of paroxysmal neurological diseases including paroxysmal kinesigenic dyskinesia, episodic ataxia, benign familial infantile seizures, and hemiplegic migraine. In the mature central nervous system, the protein has both a functional and a structural role at the synapse. Indeed, PRRT2...

Intellectual Disability is a common and heterogeneous disorder characterized by limitations in intellectual functioning and adaptive behaviour, whose molecular mechanisms remain largely unknown. Among the numerous genes found to be involved in the pathogenesis of intellectual disability, 10% are located on the X-chromosome. We identified a...

Cell ReportsArticleAPache Is an AP2-Interacting Protein Involvedin Synaptic Vesicle Traffickingand Neuronal DevelopmentAlessandra Piccini,1Enrico Castroflorio,2Pierluigi Valente,1Fabrizia C. Guarnieri,3Davide Aprile,1Caterina Michetti,2Mattia Bramini,2Giorgia Giansante,1Bruno Pinto,4,5Annalisa Savardi,1,4Fabrizia Cesca,2Angela Bachi,6Angela...