mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

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, autopha...

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Veröffentlicht in:Epilepsia Open
Hauptverfasser: Garcia, Camila A. B., Carvalho, Simone C. S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabiano P., Neder Serafini, Luciano, Silva, Wilson A., Gleeson, Joseph G., Machado, Hélio R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2020
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Full‐length Original Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7049797/
https://ncbi.nlm.nih.gov/pubmed/32140648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12377
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