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Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy

Bartolini, E; Della Vecchia, S; Biagioni, T; Montanaro, D; Ferrari, AR

Bartolini, E (通讯作者),IRCCS Stella Maris Fdn, EPILAB Epilepsy & Clin Neurophysiol Lab, Viale Tirreno 330, Pisa, Italy.

NEUROPEDIATRICS, 2023; 54 (5): 347

Abstract

DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function t......

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