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
Observation of a possible successful treatment of DEPDC5-related epilepsy with mTOR inhibitor.
Sign Up to like & getrecommendations! Published in 2023 at "Neuropediatrics"
DOI: 10.1055/a-2104-1614
Abstract: The mechanistic target of the rapamycin signaling pathway serves as a central regulator of cell metabolism, growth, proliferation and survival. In its regulation, the GTPase-activating protein activity toward Rags1 complex has an inhibitory effect. Mutations… read more here.
Keywords: depdc5 related; epilepsy; treatment; mtor inhibitor ... 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