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
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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
SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association
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DOI: 10.1111/epi.18474
Abstract: The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause… read more here.
Keywords: gene disease; epilepsy gene; considered epilepsy; gene ... See more keywords