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.

Bibliografske podrobnosti

Glavni avtor:	Tapie, Alejandra (author)
Drugi avtorji:	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
Jezik:	angleščina
Izdano:	2017
Teme:	ARX Epilepsy Mental retardation Ohtahara syndrome
Online dostop:	https://hdl.handle.net/20.500.12008/21996
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