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.

Bibliographic Details

Main Author:	Tapie, Alejandra (author)
Other Authors:	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)
Format:	article
Language:	English
Published:	2017
Subjects:	ARX Epilepsy Mental retardation Ohtahara syndrome
Online Access:	https://hdl.handle.net/20.500.12008/21996
Tags:	Add Tag No Tags, Be the first to tag this record!