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.

Detalles Bibliográficos
Autores: Tapie, Alejandra, Pi-Denis, Natalia, Souto Silva, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:Uruguay
Institución:Universidad de la República
Repositorio:COLIBRI
Idioma:inglés
OAI Identifier:oai:colibri.udelar.edu.uy:20.500.12008/21996
Acceso en línea:https://hdl.handle.net/20.500.12008/21996
Access Level:acceso abierto
Palabra clave:ARX
Epilepsy
Mental retardation
Ohtahara syndrome
Descripción
Sumario: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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