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pro vyhledávání: '"Madora Mabika"'
Autor:
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
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 hyperactivatio
Externí odkaz:
https://doaj.org/article/d58bfc4718b74897a9a1d20383163883