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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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Detalhes bibliográficos
Publicado no:Epilepsia
Main Authors: Iffland, Philip H., Carson, Vincent, Bordey, Angelique, Crino, Peter B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha: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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