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Article

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

European journal of human genetics : EJHG - 1 Feb 2010

Fullston Tod, Brueton Louise, Willis Tracey, Philip Sunny, MacPherson Lesley, Finnis Merran, Gecz Jozef, Morton Jenny

Abstract excerpt

Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic mental retardation. We have identified a novel mutation, c.81C>G (p.Y27X), within the ARX gene in a family with two affected male cousins. One of the boys was diagnosed with an early infantile epileptic encephalopathy also known as Ohtahara...

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Source

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Identifiers

PMID: 19738637
DOI: 10.1038/ejhg.2009.139
PMCID: PMC2987188

Genes

ARX

Variants

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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