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

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

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 u...

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Bibliographic Details
Main Authors: Ruby E. Dawson, Alvaro F. Nieto Guil, Louise J. Robertson, Sandra G. Piltz, James N. Hughes, Paul Q. Thomas
Format: Article
Language:English
Published: Elsevier 2020-02-01
Series:Neurobiology of Disease
Subjects:
Neurodevelopment
Epilepsy
Focal cortical dysplasia
Molecular genetics
Functional testing
Developmental genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996119303158

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http://www.sciencedirect.com/science/article/pii/S0969996119303158

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