CORDIS Project
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This research explores the role of the DEPDC5 gene in focal epilepsy and its connection to the mTORC1 signaling pathway. By utilizing advanced techniques, the project aims to understand how mutations in DEPDC5 contribute to epilepsy and identify potential new therapeutic targets.
Ion channel genes have long been linked to Mendelian focal epilepsies, but my recent finding of frequent mutations in DEPDC5 opens completely new perspectives. DEPDC5 is an inhibitor of the mTORC1 (mammalian target of rapamycin) signaling pathway, the master regulator of cell proliferation and growth.
Mutations of this gene are found in a wide spectrum of focal epilepsy syndromes, with or without cortical malformations. I propose to examine the links between DEPDC5 and the mTORC1 pathway in cort…
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
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