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Article

Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies.

Orphanet journal of rare diseases - 14 Jan 2023

Mabika Madora, Agbogba Kristian, Côté Samantha, Lippé Sarah, Riou Émilie, Cieuta Cécile, Lepage Jean-François

Abstract excerpt

BACKGROUND: Mutations in the GATOR1 complex genes, DEPDC5 and NPRL3, play a major role in the development of lesional and non-lesional focal epilepsy through increased mTORC1 signalling. We aimed to assess the effects of mTORC1 hyperactivation on GABAergic inhibitory circuits, in 3 and 5 individuals carrying DEPDC5 and NPRL3 mutations respectively using a multimodal approach including transcranial magnetic...

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Identifiers

PMID: 36639812
DOI: 10.1186/s13023-022-02600-6
PMCID: PMC9840333

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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