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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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Glavni autor: Tapie, Alejandra (author)
Daljnji autori: 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:engleski
Izdano: 2017
Teme:
ARX
Epilepsy
Mental retardation
Ohtahara syndrome
Online pristup:https://hdl.handle.net/20.500.12008/21996
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Sažetak: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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