Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.
Brain Dev
; 27(2): 118-24, 2005 Mar.
Article
em En
| MEDLINE
| ID: mdl-15668051
ABSTRACT
Chromosome imbalances are associated with epilepsy but electro-clinical phenotypes are lacking for all but the best-known syndromes. Scanty information is contained in older case reports published in genetics journals that describe children with severe patterns of malformation and dysmorphism. From a larger series of children with chromosome abnormalities and epilepsy, we identified 10 patients with associated dysmorphism without malformation. Electro-clinical features are described for each patient. We found that these patients are at greater risk of delayed diagnosis, particularly when there are no learning difficulties at the onset of epilepsy, as in ring chromosome 20 syndrome. Chromosome studies should be ordered on all children with learning difficulties and epilepsy, and on children with atypical non-lesional epilepsy, even in the absence of learning difficulties or dysmorphism.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Aberrações Cromossômicas
/
Epilepsia
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Reino Unido