Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.
Clin Genet
; 84(1): 82-5, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23039062
ABSTRACT
Severe early-onset epilepsy is due to a number of known causes, although a clear etiology is not identifiable in up to a third of all the cases. Pathogenic sequence variations in the ARX gene have been described almost exclusively in males, whereas heterozygous female relatives, such as mothers, sisters and even grandmothers have been largely reported as asymptomatic or mildly affected. To investigate the pathogenic role of ARX in refractory epilepsy of early onset even in females, we have screened the ARX sequence in a population of 50 female subjects affected with unexplained epileptic encephalopathy with onset in the first year of life. We report the identification of a novel truncating mutation of the coding region of the ARX gene in a girl with a structurally normal brain. Our findings confirm the role of ARX in the pathogenesis of early epilepsy and underline the importance of screening of the ARX gene in both male and female subjects with otherwise unexplained early onset epileptic encephalopathy.
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Espasmos Infantis
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Fatores de Transcrição
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Proteínas de Homeodomínio
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Mutação
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article