Associated Papers
Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Zaker E et al.
Molecular Genetics & Genomic Medicine, 2024
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C et al.
American Journal of Medical Genetics. Part A, 2019
Nonsense mutation-dependent reinitiation of translation in mammalian cells.
Cohen S et al.
Nucleic Acids Research, 2019
A novel mutation in the OAR domain of the ARX gene.
Tapie A et al.
Clinical Case Reports, 2017
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Moey C et al.
European Journal of Human Genetics : Ejhg, 2016
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Mastrangelo M et al.
Pediatric Neurology, 2012
Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
Fullston T et al.
Clinical Genetics, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
Fullston T et al.
European Journal of Human Genetics : Ejhg, 2010
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