Article
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.
Neuropediatrics - 1 Oct 2023
Bartolini Emanuele, Della Vecchia Stefania, Biagioni Tommaso, Montanaro Domenico, Ferrari Anna Rita
Abstract excerpt
DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function typically result in familial focal epilepsy with variable foci. Neuroimaging may either be normal or show brain malformations. Lesional and nonlesional cases may be present within the same family. Here, we describe a parent-child dyad affected by a truncating DEPDC5...
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