RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity

Hyperactivation of the mammalian target of rapamycin (mTOR) pathway can cause malformation of cortical development (MCD) with associated epilepsy and intellectual disability (ID) through a yet unknown mechanism. Here, we made use of the recently identified dominant-active mutation in Ras Homolog Enr...

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Detalles Bibliográficos
Autores principales: Proietti Onori, Martina, Koene, Linda M. C., Schäfer, Carmen B., Nellist, Mark, de Brito van Velze, Marcel, Gao, Zhenyu, Elgersma, Ype, van Woerden, Geeske M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186814/
https://www.ncbi.nlm.nih.gov/pubmed/34038402
http://dx.doi.org/10.1371/journal.pbio.3001279

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