Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
2017
Huda Zoghbi and colleagues report that loss of the ATXN1–CIC protein complex in the developing mouse forebrain results in hyperactivity and defects in learning and memory. Loss of Cic in specific brain regions causes social interaction defects, and patients with de novo CIC mutations present signs of hyperactivity, autism spectrum disorder and intellectual disability.
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