Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.
J Child Neurol
; 23(2): 240-2, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-18263761
ABSTRACT
Lafora epilepsy is characterized by starch formation in brain and skin and is diagnosed by skin biopsy or mutation detection. It has variable ages of onset (6-19 years) and death (18-32 years) even with the same mutation, likely due to extramutational factors. The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years). Biopsy, on the other hand, was not homogeneous (positive in 4/5 patients) and is, therefore, less sensitive than mutation testing.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte
/
Doença de Lafora
/
Grupos Populacionais
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Child Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2008
Tipo de documento:
Article