Loss of enzyme reduces neural activity in Angelman syndrome
Thursday, March 4, 2010 - 13:00
in Health & Medicine
Angelman Syndrome is a rare but serious genetic disorder that causes a constellation of developmental problems in affected children, including mental retardation, lack of speech, and in some cases, autism. Over a decade ago, researchers found that AS was caused by mutation in a single gene, but no one had been able to explain how this defect resulted in the debilitating neurological symptoms of the disease.