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Angelman Syndrome

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on 10 April 2015

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Transcript of Angelman Syndrome

Angelman Syndrome
Angleman Syndrome is a gene disorder
Type of disorder
Multiple forms of therapy
Current treatments
Normal life span
Other information
Harry Angelman
Background Information
This means that it involves a single gene
The Specific Gene
Gene UBE3A
4http://www.angelman.org/_angelman2/assets/Image/Genetics_Familial.jpg
Chromosome 15
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http://www.dup15q.org/_dup15q/assets/Image/genetics/Karyotype_(normal)_web.jpg
Anti epileptic medication



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http://www2.massgeneral.org/childhoodepilepsy/images/child/i_learning_henry.jpg

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http://www.synapcell.fr/img/conference-on-Antiepileptic-Drug-Trials-2009.jpg
Present in 1 individual for every 12,000 to 20,000 individuals
100
Angelman syndrome mistaken for down syndrome frequently
Symptoms
developmental delays
seizures
constant happiness
delayed motor skills
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https://metrouk2.files.wordpress.com/2012/11/article-1352847654122-16000d5b000005dc-396712_466x476.jpg
4http://upload.wikimedia.org/wikipedia/en/9/92/Harry_Angelman.jpg
10,000
Imprinting center
Full transcript