Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

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dc.contributor.author Valente, K. D.
dc.contributor.author Fridman, C.
dc.contributor.author Varela, M. C.
dc.contributor.author Koiffmann, C. P.
dc.contributor.author Andrade, J. Q.
dc.contributor.author Grossmann, R. M.
dc.contributor.author Kok, F.
dc.contributor.author Marques-Dias, M. J.
dc.date.accessioned 2016-01-24T12:38:12Z
dc.date.available 2016-01-24T12:38:12Z
dc.date.issued 2005-12-01
dc.identifier http://dx.doi.org/10.1016/j.eplepsyres.2005.09.003
dc.identifier.citation Epilepsy Research. Amsterdam: Elsevier B.V., v. 67, n. 3, p. 163-168, 2005.
dc.identifier.issn 0920-1211
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/28581
dc.description.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. en
dc.format.extent 163-168
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Epilepsy Research
dc.rights Acesso restrito
dc.subject Angelman syndrome en
dc.subject UPD en
dc.subject epilepsy en
dc.subject EEG en
dc.subject genotype en
dc.title Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns en
dc.type Artigo
dc.rights.license http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Univ São Paulo, Sch Med, Inst Psychiat, BR-04532082 São Paulo, SP, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Dept Psychiat, BR-04532082 São Paulo, SP, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Inst Psychiat, EPICHROM Project, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Dept Psychiat, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Dept Legal Med, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Ctr Human Genome Studies, Dept Biol, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Dept Neurol, Child Neurol Unit, BR-04532082 São Paulo, SP, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Inst Pediat, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Dept Pediat, São Paulo, Brazil
dc.identifier.doi 10.1016/j.eplepsyres.2005.09.003
dc.description.source Web of Science
dc.identifier.wos WOS:000234033800009



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