A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Reference69 articles.
1. DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family;Aberastury;Epileptic Disord.,2019
2. mTOR signaling for biological control and cancer;Alayev;J. Cell. Physiol.,2013
3. Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex;Anderl;Hum. Mol. Genet.,2011
4. The landscape of epilepsy-related GATOR1 variants;Baldassari;Genet. Med.,2019
5. A tumor suppressor complex with GAP activity for the rag GTPases that signal amino acid sufficiency to mTORC1;Bar-Peled;Science,2013
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