The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively...

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Bibliographic Details
Main Authors: Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz, Robyn Whitney
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Genes
Subjects:
genetic epilepsies
mTORopathies
tuberous sclerosis complex
precision medicine
focal cortical dysplasia
genetic testing
Online Access:https://www.mdpi.com/2073-4425/15/3/332

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https://www.mdpi.com/2073-4425/15/3/332

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