Associated Papers
Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Jackson MR et al.
Neurobiology of Disease, 2017
ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons.
Lee K et al.
Neuroscience, 2017
Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Mattiske T et al.
Human Molecular Genetics, 2016
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.
Lee K et al.
Human Molecular Genetics, 2014
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Shoubridge C et al.
European Journal of Human Genetics : Ejhg, 2012
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Mastrangelo M et al.
Pediatric Neurology, 2012
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
Kitamura K et al.
Human Molecular Genetics, 2009
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.
Reish O et al.
American Journal of Medical Genetics. Part A, 2009
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