Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns.
Epilepsy Res
; 67(3): 163-8, 2005 Dec.
Article
en En
| MEDLINE
| ID: mdl-16226874
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 occurred, 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.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Angelman
/
Disomía Uniparental
/
Electroencefalografía
/
Epilepsia
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Epilepsy Res
Asunto de la revista:
CEREBRO
/
NEUROLOGIA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Brasil