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

Abstract

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… (More)
DOI: 10.1038/ejhg.2009.139

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