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Article

Frameshift mutations of the ARX gene in familial Ohtahara syndrome.

Epilepsia - 1 Sept 2010

Kato Mitushiro, Koyama Norihisa, Ohta Masayasu, Miura Kiyokuni, Hayasaka Kiyoshi

Abstract excerpt

PURPOSE: Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is frequently associated with brain malformations, such as hemimegalencephaly. Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as...

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Source

Identifiers

PMID: 20384723
DOI: 10.1111/j.1528-1167.2010.02559.x

Genes

ARX

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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Frameshift mutations of the ARX gene in familial Ohtahara syndrome.PMID 20384723Read ↗

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