mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such as growth and proliferation, metabolism,...

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Bibliographic Details
Main Authors: Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Epilepsia Open
Subjects:
epilepsy
hemimegalencephaly
mTOR
Online Access:https://doi.org/10.1002/epi4.12377

Internet

https://doi.org/10.1002/epi4.12377

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