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GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations

The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing number of malformations of cortical development (MCD) associated with intractable epilepsy. Mutations in single genes encoding mTOR pathway regulatory proteins have been linked to MCD such as focal cortical dysplasia...

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Vydáno v:Epilepsia
Hlavní autoři: Iffland, Philip H., Carson, Vincent, Bordey, Angelique, Crino, Peter B.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7155771/
https://ncbi.nlm.nih.gov/pubmed/31625153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16370
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