Associated Papers
X-Linked Epilepsies: A Narrative Review.
Bernardo P et al.
International Journal of Molecular Sciences, 2024
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y et al.
Genes & Genomics, 2019
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE et al.
Molecular Genetics & Genomic Medicine, 2018
A novel mutation in the OAR domain of the ARX gene.
Tapie A et al.
Clinical Case Reports, 2017
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Marques I et al.
Molecular Genetics & Genomic Medicine, 2015
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Curie A et al.
Orphanet Journal of Rare Diseases, 2014
Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.
Abedini SS et al.
Archives of Iranian Medicine, 2012
C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.
Arikan Y et al.
Genetic Counseling (geneva, Switzerland), 2012
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 polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Cossée M et al.
American Journal of Medical Genetics. Part A, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
Shoubridge C et al.
Genomics, 2007
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
Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.
de Souza Gestinari-Duarte R et al.
Journal of Human Genetics, 2006
Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
Rujirabanjerd S et al.
European Journal of Medical Genetics, 0
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
Grønskov K et al.
European Journal of Medical Genetics, 0