A novel mutation in the OAR domain of the ARX gene
Resumen:
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.
| 2017 | |
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ARX Epilepsy Mental retardation Ohtahara syndrome |
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| Inglés | |
| Universidad de la República | |
| COLIBRI | |
| https://hdl.handle.net/20.500.12008/21996 | |
| Acceso abierto | |
| Licencia Creative Commons Atribución (CC –BY 4.0) |
| 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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