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Article

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.

Current opinion in neurobiology - 1 Oct 2012

Olivetti Pedro R, Noebels Jeffrey L

Abstract excerpt

X-linked Infantile Spasms Syndrome (ISSX) is a catastrophic epilepsy of early childhood with intractable seizures, intellectual disability, and poor prognosis. A spectrum of mutations in the Aristaless-Related Homeobox gene (ARX) has been linked to ISSX, and downstream targets of this interneuron-expressed transcription factor are being defined. Recent advances combining in vitro and in vivo methods have unveiled...

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Identifiers

PMID: 22565167
DOI: 10.1016/j.conb.2012.04.006
PMCID: PMC3437236

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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Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.PMID 22565167Read ↗

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