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A novel mutation in the OAR domain of the ARX gene

Mutations in ARX gene should be considered in patients with mental disabilityor/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, wereport the case of a boy diagnosed with Ohtahara syndrome. We performed themolecular analysis of the gene and identified a new missense mutation.

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Autor principal: Tapie, Alejandra (author)
Outros Autores: Pi-Denis, Natalia (author), Souto Silva, Jorge (author), Vomero, Alejandra (author), Peluffo, Gabriel (author), Boidi, María (author), Ciganda, Martín (author), Curbelo, Nicolás (author), Raggio, Victor (author), Roche, Leda (author), Pastro, Lucía (author)
Formato: article
Idioma:inglês
Publicado em: 2017
Assuntos:
ARX
Epilepsy
Mental retardation
Ohtahara syndrome
Acesso em linha:https://hdl.handle.net/20.500.12008/21996
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Internet

https://hdl.handle.net/20.500.12008/21996

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