A Novel Mutation in the OAR Domain of the ARX Gene

Overview

Journal Clin Case Rep

Date 2017 Feb 9

PMID 28174645

Citations 1

Authors

Alejandra Tapie

Natalia Pi-Denis

Jorge Souto

Alejandra Vomero

Gabriel Peluffo

Maria Boidi

Martin Ciganda

Nicolas Curbelo

Victor Raggio

Leda Roche

Lucia Pastro

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Zaker E, Nouri N, Movahedinia M, Dadbinpour A, Vahidi Mehrjardi M Mol Genet Genomic Med. 2024; 12(2):e2412.

PMID: 38400608 PMC: 10891437. DOI: 10.1002/mgg3.2412.

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