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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Publicat a:Epilepsia Open
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Full‐length Original Research
Accés en línia: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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