A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.

@article{Price2009ATR,
  title={A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.},
  author={Maureen G. Price and Jong W. Yoo and Daniel L. Burgess and Fang Deng and Richard A. Hrachovy and James D. Frost and Jeffrey L Noebels},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2009},
  volume={29 27},
  pages={8752-63}
}
Infantile spasms syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms, persistent seizures, mental retardation, and in some cases, autism. One of its monogenic causes is an insertion mutation [c.304ins (GCG)(7)] on the X chromosome, expanding the first polyalanine tract of the interneuron-specific transcription factor Aristaless-related homeobox (ARX) from 16 to 23 alanine codons. Null mutation of the Arx gene impairs GABA and cholinergic interneuronal migration but results in… CONTINUE READING
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