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Article

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

Neurology - 31 Jul 2007

Guerrini R, Moro F, Kato M, Barkovich A J, Shiihara T, McShane M A, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang U J, Das S, Dobyns W B

Abstract excerpt

BACKGROUND: ARX is a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C-terminal aristaless domain. Studies in humans have demonstrated remarkable pleiotropy: malformation phenotypes are associated...

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Source

Identifiers

PMID: 17664401
DOI: 10.1212/01.wnl.0000266594.16202.c1

Genes

ARX
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17664401-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.Semantic proximity Read ↗

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.Semantic proximity Read ↗

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Semantic proximity Read ↗

Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.Semantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

X-linked myoclonic epilepsy with spasticity and intellectual disabilitySemantic proximity Read ↗

Expansion of the ARX spectrum.Semantic proximity Read ↗

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.Semantic proximity Read ↗

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.Semantic proximity Read ↗

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.Semantic proximity Read ↗

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