Article
Angelman Syndrome.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Jul 2015
Margolis Seth S, Sell Gabrielle L, Zbinden Mark A, Bird Lynne M
Abstract excerpt
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which...
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