A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling

Dishevelled, Egl-10 and Pleckstrin domain-containing 5 (DEPDC5), a key inhibitor of the mammalian/mechanistic target of rapamycin (mTOR) pathway, is frequently associated with epilepsy. However, the functional consequences of most DEPDC5 variants rely on in silico predictions and have not been exper...

Full description

Bibliographic Details

Published in:	Neurobiology of Disease
Main Authors:	Jie Liu, Rui Huang, Fenglin Tang, Yuanlin Ma, Patrick Kwan
Format:	Article
Language:	English
Published:	Elsevier 2025-04-01
Subjects:	mTOR Epilepsy DEPDC5 Rapamycin Seizure susceptibility
Online Access:	http://www.sciencedirect.com/science/article/pii/S0969996125000580