Precision Medicine in Angelman Syndrome

Abstract

Angelman Syndrome (AS) is a rare neurogenetic disorder caused by a loss of function of UBE3A on the maternal allele. Clinical features include severe neurodevelopmental delay, epilepsy, sleep disturbances and behavorial disorders. Therapy currently evolves from conventional symptomatic, supportive and antiseizure treatments towards alteration of mRNA expression, which is subject of several ongoing clinical trials. This paper will provide an overview of clinical research and therapeutic approaches on AS.