Document Detail


The behavioral phenotype of the Angelman syndrome.
MedLine Citation:
PMID:  20981772     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe developmental handicap. In this review the core neurological features of the syndrome are discussed with a focus on those behaviors that make Angelman syndrome a prototypical genetic disorder expressing a behavioral phenotype.
Authors:
Charles A Williams
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  154C     ISSN:  1552-4876     ISO Abbreviation:  Am J Med Genet C Semin Med Genet     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  432-7     Citation Subset:  IM    
Copyright Information:
© 2010 Wiley-Liss, Inc.
Affiliation:
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA. willicx@peds.ufl.edu
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