Articles with "depdc5 loss" as a keyword



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Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.

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Published in 2019 at "Human molecular genetics"

DOI: 10.1093/hmg/ddz123

Abstract: DEPDC5 is now recognized as one of the genes most often implicated in familial/inherited focal epilepsy and brain malformations. Individuals with pathogenic variants in DEPDC5 are at risk for epilepsy, associated neuropsychiatric comorbidities, and Sudden… read more here.

Keywords: epilepsy; mice; depdc5cc mice; depdc5 loss ... See more keywords