The behavioral phenotype of the Angelman syndrome

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 Ange...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2010-11, Vol.154C (4), p.432-437
Main Author: Williams, Charles A.
Format: Article
Language:English
Subjects:
Angelman syndrome
Angelman Syndrome - genetics
Angelman Syndrome - physiopathology
Behavior - physiology
behavioral phenotype
Happiness
Humans
laughter
Laughter - physiology
Phenotype
Psychomotor Agitation - physiopathology
Seizures
Social Behavior
speech
UBE3A gene
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Summary: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. © 2010 Wiley‐Liss, Inc.
ISSN:1552-4868
1552-4876
1552-4876
DOI:10.1002/ajmg.c.30278