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

Summary

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Authors: Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac

Journal title: Journal of Clinical Investigation

Journal number: 128/6

Journal publisher: American Society for Clinical Investigation

Published year: 2018

Published pages: 2452-2458

DOI identifier: 10.1172/JCI99384

ISSN: 0021-9738