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

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...

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Detalles Bibliográficos
Autores principales: Mabika, Madora, Agbogba, Kristian, Côté, Samantha, Lippé, Sarah, Riou, Émilie, Cieuta, Cécile, Lepage, Jean-François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840333/
https://www.ncbi.nlm.nih.gov/pubmed/36639812
http://dx.doi.org/10.1186/s13023-022-02600-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840333/
https://www.ncbi.nlm.nih.gov/pubmed/36639812
http://dx.doi.org/10.1186/s13023-022-02600-6

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