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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Bibliographic Details
Main Authors: Martina Proietti Onori, Linda M C Koene, Carmen B Schäfer, Mark Nellist, Marcel de Brito van Velze, Zhenyu Gao, Ype Elgersma, Geeske M van Woerden
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-05-01
Series:PLoS Biology
Online Access:https://doi.org/10.1371/journal.pbio.3001279