Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-12574-2
Abstract: DEPDC5 mutations have recently been shown to cause epilepsy in humans. Evidence from in vitro studies has implicated DEPDC5 as a negative regulator of mTORC1 during amino acid insufficiency as part of the GATOR1 complex.… read more here.
Keywords: hyperactivity; mtorc1; dysmorphology; epilepsy gene ... See more keywords
Genes4Epilepsy: An epilepsy gene resource
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17547
Abstract: “How many epilepsy genes are there?” is a frequently asked question. We sought to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and contrast epilepsy gene panels from multiple… read more here.
Keywords: epilepsy gene; epilepsy; genes4epilepsy epilepsy; gene resource ... See more keywords