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Article

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.

Clinical genetics - 1 Jul 2013

Bettella E, Di Rosa G, Polli R, Leonardi E, Tortorella G, Sartori S, Murgia A

Abstract excerpt

Severe early-onset epilepsy is due to a number of known causes, although a clear etiology is not identifiable in up to a third of all the cases. Pathogenic sequence variations in the ARX gene have been described almost exclusively in males, whereas heterozygous female relatives, such as mothers,...

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Source

Identifiers

PMID: 23039062
DOI: 10.1111/cge.12034

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23039062-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.PMID 23039062Read ↗

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