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Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1

Mutations in DEP domain containing 5 (DEPDC5) are increasingly appreciated as one of the most common causes of inherited focal epilepsy. Epilepsies due to DEPDC5 mutations are often associated with brain malformations, tend to be drug-resistant, and have been linked to an increased risk of sudden un...

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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: Klofas, Lindsay K, Short, Brittany P, Zhou, Chengwen, Carson, Robert P
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7254848/
https://ncbi.nlm.nih.gov/pubmed/32280987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa068
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