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

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

Autor Valente, K. D. Google Scholar
Fridman, C. Google Scholar
Varela, M. C. Google Scholar
Koiffmann, C. P. Google Scholar
Andrade, J. Q. Google Scholar
Grossmann, R. M. Google Scholar
Kok, F. Google Scholar
Marques-Dias, M. J. Google Scholar
Instituição Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Resumo 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.
Palavra-chave Angelman syndrome
UPD
epilepsy
EEG
genotype
Idioma Inglês
Data de publicação 2005-12-01
Publicado em Epilepsy Research. Amsterdam: Elsevier B.V., v. 67, n. 3, p. 163-168, 2005.
ISSN 0920-1211 (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 163-168
Fonte http://dx.doi.org/10.1016/j.eplepsyres.2005.09.003
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000234033800009
Endereço permanente http://repositorio.unifesp.br/handle/11600/28581

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