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Article

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

Neurobiology of disease - 1 Feb 2020

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 31639411
DOI: 10.1016/j.nbd.2019.104640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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