대표연구성과
대표연구성과

An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Fo…

  • 저널명Nat. Med. 2015 Dec;21(12):1445-54.
    • 담당교수[2015년 12월] 백승태 교수연구실
    • 조회32
    • 작성자최고관리자
    • 2017-10-13

    본문

    ■ Abstract

    Focal malformations of cortical development (FMCD) account for the majority of drug-resistant pediatric epilepsy. Postzygotic somatic mutations activating the PI3K-AKT-mTOR pathway are found in a wide range of brain diseases, including FMCD. It remains unclear how a mutation in a small fraction of cells can disrupt the architecture of the entire hemisphere. We show that, within human FMCD brain, cells showing activation of this pathway were enriched for the mutation. Introducing the FMCD mutation into mouse brain resulted in electrographic seizures and impaired