Associated Papers
Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Zaker E et al.
Molecular Genetics & Genomic Medicine, 2024
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y et al.
Genes & Genomics, 2019
Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.
Mattiske T et al.
Plos One, 2018
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
Expanding the phenotype associated with missense mutations of the ARX gene.
Charzewska A et al.
American Journal of Medical Genetics. Part A, 2013
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
Ekşioğlu YZ et al.
Epilepsia, 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
The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR).
Fullenkamp AN et al.
Biochemical and Biophysical Research Communications, 2008
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.
McKenzie O et al.
Neuroscience, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP et al.
Human Mutation, 2007
ARX: a gene for all seasons.
Gécz J et al.
Current Opinion in Genetics & Development, 2006
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Poirier K et al.
Neurogenetics, 2006
The role of ARX in cortical development.
Friocourt G et al.
The European Journal of Neuroscience, 2006
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Poirier K et al.
Brain Research. Molecular Brain Research, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M et al.
Human Mutation, 2004
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Current Opinion in Pediatrics, 2003
The Xenopus arx gene is expressed in the developing rostral forebrain.
El-Hodiri HM et al.
Development Genes and Evolution, 2003
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Bienvenu T et al.
Human Molecular Genetics, 2002