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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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| 出版年: | Epilepsia |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | 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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