Abstract

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 complex interactions between Arx and its binding partners and their effects on cell migration and maturation that can help explain the diversity of ARX phenotypes. New mutant mouse models of Arx-induced pathology, including a recent human triplet-repeat expansion mutation with a phenotype of infantile spasms and electrographic seizures, provide valuable tools for exploring the pathophysiology of Arx and substrates for testing novel therapies.

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Publisher Full Text

Authors

Olivetti PR, Noebels JL

Institution

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, United States.

Source

Current opinion in neurobiology 22:5 2012 Oct pg 859-65

MeSH

Aicardi Syndrome
Animals
Disease Models, Animal
Homeodomain Proteins
Humans
Interneurons
Mice
Mutation
Spasms, Infantile
Transcription Factors

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

22565167