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Angelman Syndrome

Angelman Syndrome . By Skyler Dawson. Angelman Syndrome. Angelman Syndrome is marked by severe developmental delay, speech difficulties, seizure disorders and more.

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Angelman Syndrome

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  1. Angelman Syndrome By Skyler Dawson

  2. Angelman Syndrome • Angelman Syndrome is marked by severe developmental delay, speech difficulties, seizure disorders and more. • Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, they are really fascinated with water, and really did not get must sleep and are sleep deprived. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives.

  3. Is there a cure for Angelman Syndrome • We know what is wrong in Angelman Syndrome - the function of one gene, UBE3A, is missing • We know that loss of UBE3A does not affect neuronal development, only neuronal function. • We have excellent animal models for Angelman Syndrome, and research has indicated that Angelman Syndrome can be cured in those models. • We have strong ideas and approaches for restoring UBE3A function in neurons.

  4. Resources • http://ghr.nlm.nih.gov/condition/angelman-syndrome • http://www.cureangelman.org/what-hope.html

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