Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Silvia FerrantiCaterina Lo RizzoAlessandra RenieriPaolo GalluzziSalvatore GrossoPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)
Our paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.