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Article

Familial Ohtahara syndrome due to a novel ARX gene mutation.

American journal of medical genetics. Part A - 1 Dec 2010

Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina B Dalla

Abstract excerpt

Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that evolved into West...

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Identifiers

PMID: 21108397
DOI: 10.1002/ajmg.a.33701

Genes

ARX

Variants

Provenance

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Familial Ohtahara syndrome due to a novel ARX gene mutation.PMID 21108397Read ↗

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

Expansion of the ARX spectrum.Semantic proximity Read ↗

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

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

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