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Title: Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
Authors: Valente, K. D.
Fridman, C.
Varela, M. C.
Koiffmann, C. P.
Andrade, J. Q.
Grossmann, R. M.
Kok, F.
Marques-Dias, M. J.
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Keywords: Angelman syndrome
Issue Date: 1-Dec-2005
Publisher: Elsevier B.V.
Citation: Epilepsy Research. Amsterdam: Elsevier B.V., v. 67, n. 3, p. 163-168, 2005.
Abstract: The authors describe the electroclinical phenotype of four patients with Angelman syndrome (AS) determined by its rarest genetic mechanism-uniparental disomy (UPD). the analysis of ours and published patients showed that in UPD, when epilepsy occured, it was milder compared to patients with deletion, although a suggestive EEG was observed in most patients. We found that UPD patients do not completely fit the scenario delineated for AS, suggesting that patients determined by different mechanisms should be distinctly addressed, for a better understanding of this syndrome. (c) 2005 Elsevier B.V. All rights reserved.
ISSN: 0920-1211
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