Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

DEP domain–containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid–sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epil...

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Bibliografiske detaljer
Udgivet i:J Clin Invest
Main Authors: Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2018
Fag:
Concise Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983335/
https://ncbi.nlm.nih.gov/pubmed/29708508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI99384
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