Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy
Abstract
Mutations in the GAP activity toward RAGs 1 (GATOR1) complex genes (DEPDC5, NPRL2 and NPRL3) have been associated with focal epilepsy and focal cortical dysplasia (FCD). GATOR1 functions as an inhibitor of the mTORC1 signalling pathway, indicating that the downstream effects of mTORC1 deregulation underpin the disease. However, the vast majority of putative disease-causing variants have not been functionally assessed for mTORC1 repression...
Paper Details
Title
Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy
Published Date
Feb 1, 2020
Journal
Volume
134
Pages
104640 - 104640
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