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Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy

Brain somatic mutations confer genomic diversity in the human brain and cause neurodevelopmental disorders. Recently, brain somatic activating mutations in MTOR have been identified as a major etiology of intractable epilepsy in patients with cortical malformations. However, the molecular genetic me...

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Podrobná bibliografie
Vydáno v:J Clin Invest
Hlavní autoři: Kim, Jang Keun, Cho, Jun, Kim, Se Hoon, Kang, Hoon-Chul, Kim, Dong-Seok, Kim, V. Narry, Lee, Jeong Ho
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6763223/
https://ncbi.nlm.nih.gov/pubmed/31483294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI127032
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