Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of neurology"
DOI: 10.1002/ana.26256
Abstract: OBJECTIVE Germline loss-of-function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mTOR repressor GATOR1 complex, cause focal epilepsies and increase the risk of sudden unexpected death in epilepsy (SUDEP). Here, we asked… read more here.
Keywords: depdc5 related; unexpected death; cardiac investigations; sudden unexpected ... See more keywords
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility
Sign Up to like & getrecommendations! Published in 2018 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2017.12.010
Abstract: DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway,… read more here.
Keywords: depdc5 related; related epilepsy; model; seizure ... See more keywords
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
Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.
Sign Up to like & getrecommendations! 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
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.1172/jci99384
Abstract: DEP domain–containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid–sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have… read more here.
Keywords: focal cortical; second hit; cortical dysplasia; depdc5 ... See more keywords
mTOR pathway in familial focal epilepsies
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.14234
Abstract: An increasingly recognized role of genes encoding components of the mammalian Target Of Rapamycin (mTOR) signal transduction pathway has recently emerged among familial focal epilepsies. Loss-of-function mutations in the Dishevelled, Egl-10 and Pleckstrin Domain Containing… read more here.
Keywords: familial focal; pathology; mtorc1; brain ... See more keywords
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.641019
Abstract: Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately… read more here.
Keywords: epilepsy; mutation; depdc5 related; familial focal ... See more keywords