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Article

GATOR1 complex: the common genetic actor in focal epilepsies.

Journal of medical genetics - 1 Aug 2016

Baldassari Sara, Licchetta Laura, Tinuper Paolo, Bisulli Francesca, Pippucci Tommaso

Abstract excerpt

The mammalian or mechanistic target of rapamycin (mTOR) signalling pathway has multiple roles in regulating physiology of the whole body and, particularly, the brain. Deregulation of mTOR signalling has been associated to various neurological conditions, including epilepsy. Mutations in genes encoding components of Gap Activity TOward Rags 1 (GATOR1) (DEPDC5, NPRL2 and NPRL3), a complex involved in the inhibition...

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Source

Identifiers

PMID: 27208208
DOI: 10.1136/jmedgenet-2016-103883

Genes

DEPDC5
NPRL2
NPRL3

Provenance

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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