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- W4316020289 abstract "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 stimulation (TMS), magnetic resonance spectroscopy (MRS), and electroencephalography (EEG).Inhibitory functions probed by TMS and MRS showed no effect of mutations on cortical GABAergic receptor-mediated inhibition and GABA concentration, in both cortical and subcortical regions. However, stronger EEG theta oscillations and stronger and more synchronous gamma oscillations were observed in DEPDC5 and NPRL3 mutations carriers.These results suggest that DEPDC5 and NPRL3-related epileptic mTORopathies may not directly modulate GABAergic functions but are nonetheless characterized by a stronger neural entrainment that may be reflective of a cortical hyperexcitability mediated by increased mTORC1 signaling." @default.
- W4316020289 created "2023-01-14" @default.
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- W4316020289 date "2023-01-14" @default.
- W4316020289 modified "2023-10-16" @default.
- W4316020289 title "Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies" @default.
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- W4316020289 cites W2036254630 @default.
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- W4316020289 doi "https://doi.org/10.1186/s13023-022-02600-6" @default.
- W4316020289 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36639812" @default.
- W4316020289 hasPublicationYear "2023" @default.
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