Condition: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)


rs28935479 in ARX gene and MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

PMID 11889467 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 15533998 2004 A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.

PMID 26029707 2015 Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

PMID 15726411 2005 Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

PMID 17664401 2007 Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 17490853 2007 Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

PMID 16235064 2006 Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

PMID 21204215 2011 ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

PMID 17331656 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.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 22922607 2012 Novel mutation in ARX associated with early hand preference and a mild phenotype.

PMID 19507262 2009 Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 12874418 2003 Polyalanine expansion of ARX associated with cryptogenic West syndrome.

PMID 19606478 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.