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What is Angelman syndrome?
What is Angelman syndrome?
People living with AS have a genetic difference on chromosome 15. People with these chromosomal changes do not produce any, or remotely enough, of something called UBE3A—which is a protein involved in brain functioning that helps us walk, talk and perform many other everyday tasks.
As a result, children and adults with AS typically have balance issues, motor impairments and can have debilitating seizures. Disruptive sleep is often a serious challenge. Some never walk. Most do not speak. Individuals with AS have a normal life expectancy, but require continuous care and are unable to live independently. (FAST)