Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

ConclusionsOur 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.

http://link.springer.com/10.1007/s10072-020-04418-1

Source: Neurological Sciences - May 20, 2020 Category: Neurology Source Type: research