Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and a unique behavioral phenotype. Diagnosing Angelman syndrome has important implications for prognosis, genetic counseling, health surveillance, and, in some instances, specific symptomatic therapies.
In this article, Dr. Ryan Lee of the John A Burns School of Medicine at the University of Hawaii discusses the diagnosis, prognosis, genetic counseling, and health surveillance of patients with Angelman syndrome. Also discussed are studies using models of Angelman syndrome, which provide insight into the pathoetiology and potential treatment of Angelman syndrome.
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