Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

Ruby E. Dawson, Alvaro F. Nieto Guil, Louise J. Robertson, Sandra G. Piltz, James N. Hughes, Paul Q. Thomas

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)
Original languageEnglish
JournalNeurobiology of Disease
Volume134
DOIs
Publication statusPublished - 19 Oct 2019

Keywords

  • Neurodevelopment
  • Epilepsy
  • Focal cortical dysplasia
  • Molecular genetics
  • Functional testing
  • Developmental genetics
  • CRISPR/CAS9
  • Disease model
  • Mouse model
  • mTOR

Cite this