Developing Models of Aristaless-Related Homeobox Mutations

Eric D. Marsh and Jeffrey A. Golden

in Jasper's Basic Mechanisms of the Epilepsies

Fourth edition

Published on behalf of ©Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Richard W. Olsen, and Antonio V. Delgado-Escueta

Published in print July 2012 | ISBN: 9780199746545
Published online April 2013 | e-ISBN: 9780199322817 | DOI:

Series: Contemporary Neurology Series

Developing Models of Aristaless-Related Homeobox Mutations

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Mutations in the Aristaless-related homeobox gene (ARX) have been causally linked to a variety of neurological conditions, particularly infantile spasms syndrome. ARX is a developmentally regulated homeobox transcription factor with expression both in the ganglionic eminence and in the cortical ventricular zone early in development.1 Postnatally, the expression pattern is restricted to GABAergic (gamma-aminobutyric acid) neurons in the cortex and basal ganglia. During development, ARX functions primarily as a transcriptional repressor2: modulating migration and fate specification of interneurons and controlling ventricular zone proliferation. How loss of function of ARX leads to an epilepsy phenotype is poorly understood. Three genetically modified mice lines have been generated3–5 to address this issue. These models each develop epilepsy, and all have changes in interneuron subtype patterns strongly implicating alterations of interneuron development as a cause of epilepsy. Analysis of these models will both further the molecular understanding of the function of ARX and allow dissection of the pathophysiological properties of the ARX-related epilepsies. This chapter will review the current knowledge of the function of Arx, the Arx mouse models, and discuss how these models can lead to a better understanding of the role of interneuron loss in the development of epilepsy during early childhood.

Chapter.  7222 words.  Illustrated.

Subjects: Neurology

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