Ontology highlight
ABSTRACT:
SUBMITTER: Savino E
PROVIDER: S-EPMC7560900 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Savino Elisa E Cervigni Romina Inès RI Povolo Miriana M Stefanetti Alessandra A Ferrante Daniele D Valente Pierluigi P Corradi Anna A Benfenati Fabio F Guarnieri Fabrizia Claudia FC Valtorta Flavia F
Cell death & disease 20201014 10
Mutations in proline-rich transmembrane protein 2 (PRRT2) have been recently identified as the leading cause of a clinically heterogeneous group of neurological disorders sharing a paroxysmal nature, including paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. To date, studies aimed at understanding its physiological functions in neurons have mainly focused on its ability to regulate neurotransmitter release and neuronal excitability. Here, we show that PRRT2 expression in ...[more]