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Article

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

Brain & development - 1 Jun 2009

Shinozaki Yuko, Osawa Maki, Sakuma Hiroshi, Komaki Hirofumi, Nakagawa Eiji, Sugai Kenji, Sasaki Masayuki, Goto Yuichi

Abstract excerpt

Mutations in the Aristaless-related homeobox (ARX) gene are associated with pleiotropic phenotypes including infantile spasms, mental retardation and dystonia. However, relatively consistent genotype-phenotype correlations have been emphasized in prior reports. We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven...

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Source

Identifiers

PMID: 18823727
DOI: 10.1016/j.braindev.2008.08.006

Genes

ARX
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.PMID 18823727Read ↗

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

Expansion of the ARX spectrum.Semantic proximity Read ↗

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

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.Semantic proximity Read ↗

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.Semantic proximity Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

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

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

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