| Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. | |
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MedLine Citation:
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PMID: 21594999 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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15q13.3 deletion syndrome (15q13.3DS) is a common recurrent genomic disorder associated with epilepsy, intellectual impairment, aggressive behavior, schizophrenia, and autism. A 39-year-old male presented with 15q13.3DS, epilepsy, intellectual impairment, psychosis, and recurrent episodes of aggressive rage. We hypothesized that the patient's aggressive behavior reflected deficits in α7 nicotinic cholinergic receptor (NChR)-mediated neurotransmission, arising from haploinsufficiency of the structural gene CHRNA7 due to the deletion. Treatment with the NChR allosteric modulator and acetylcholinesterase (AChE) inhibitor, galantamine, led to a dramatic decline in the frequency and intensity of rage outbursts, suggesting that enhancement of α7 NChR function can ameliorate 15q13.3DS-associated rage outbursts. © 2011 Wiley-Liss, Inc. |
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Authors:
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Joseph F Cubells; Elizabeth H Deoreo; Philip D Harvey; Steven J Garlow; Kathryn Garber; Margaret P Adam; Christa Lese Martin |
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Publication Detail:
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Type: Journal Article Date: 2011-03-15 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 155 ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-05-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 805-10 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia; Emory Autism Center, Atlanta, Georgia. jcubell@emory.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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