2011 Group Project 7: Difference between revisions
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='''Angelman Syndrome'''= | ='''Angelman Syndrome'''= | ||
==Introduction== | ==Introduction== | ||
Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956. | |||
It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms. Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.<ref>http://www.ncbi.nlm.nih.gov/pubmed/21592595</ref> <ref>http://www.ncbi.nlm.nih.gov/pubmed/21484597</ref> <ref>http://www.angelmansyndrome.org/home.html</ref> The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. <ref>http://www.ncbi.nlm.nih.gov/books/NBK22221/</ref> | |||
==History== | ==History== | ||
===Timeline=== | ===Timeline=== | ||
Revision as of 19:26, 31 August 2011
Angelman Syndrome
Introduction
Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956.
It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms. Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.[1] [2] [3] The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. [4]
