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Angelman Syndrome, a Genomic Imprinting Disorder of the Brain

Year: 2010

Type: article

Abstract: Harry Angelman, an English pediatrician, reported three cases of “Puppet Children” in 1965 ([Angelman, 1965][1]). These individuals displayed severe intellectual disability, ataxia, absent speech, jerky arm movements and bouts of inappropriate laughter. More cases were described as “Happy

Source: Journal of Neuroscience

DOI: 10.1523/jneurosci.1728-10.2010

Authors: Stormy J. Chamberlain, Marc Lalande

Institutions: University of Connecticut, UConn Health, National Institutes of Health, National Institute of Neurological Disorders and Stroke

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funders: Angelman Syndrome Foundation, Medical Research Council