Clinical and genetic features of GATOR1 complex-associated epilepsy

We evaluated the mutant prevalence of GATOR1-complex encoded by DEPDC5, NPRL2 and NPRL3 genes, a modulator in mammalian target of rapamycin (mTOR) pathway, in Chinese epilepsy cohort and further defined the phenotype variation. we find that patients carrying DEPDC5-loss-of-function variants may have a high prevalence of focal seizures with a dynamic phenotype highlighting reduced penetrance and self-resolving features, and the associated epilepsy may be caused by inhibition deficit of the mTOR pathway.The mechanism is associated with mTOR activation which may give alternative choice for future medication. (By Dr. Qing Liu, https://jmg.bmj.com/content/early/2023/01/04/jmg-2021-108364 )

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