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Article

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

Human molecular genetics - 1 Oct 2009

Kitamura Kunio, Itou Yukiko, Yanazawa Masako, Ohsawa Maki, Suzuki-Migishima Rika, Umeki Yuko, Hohjoh Hirohiko, Yanagawa Yuchio, Shinba Toshikazu, Itoh Masayuki, Nakamura Kenji, Goto Yu-ichi

Abstract excerpt

ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations have been identified in X-linked lissencephaly and mental retardation with epilepsy, and thus ARX is considered to be a causal gene for the two syndromes although the neurobiological functions of each mutation remain unclear. We...

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Source

Identifiers

PMID: 19605412
DOI: 10.1093/hmg/ddp318

Genes

ARX
GCG

Variants

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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Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.PMID 19605412Read ↗

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A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Semantic proximity Read ↗

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