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

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

Abstract 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 ind...

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Main Authors: Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
mTORC1
GATOR1
DEPDC5
NPRL3
Epilepsy
GABA
Online Access:https://doi.org/10.1186/s13023-022-02600-6

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