Alejandra Tapie, Natalia Pi-Denis, Jorge Souto, Alejandra Vomero, Gabriel Peluffo, María Boidi, Martín Ciganda, Nicolás Curbelo, Victor Raggio, Leda Roche, Lucía Pastro
Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutation.
February 2017: Clinical Case Reports