Examines how different genetic mutations associated with Angelman syndrome (AS) affect clinical features in young children. The study found that specific mutations in the UBE3A gene correlate with variations in developmental delays, seizure types, and other neurological characteristics in early childhood.
The mission of Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.