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
Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy
Sign Up to like & getrecommendations! Published in 2024 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200183
Abstract: Objectives DEPDC5-related epilepsy carries an increased risk of sudden unexpected death in epilepsy. We evaluated the occurrence and features of ictal central apnea (ICA) in patients with pathogenic sequence variant in DEPDC5. Methods We reviewed… read more here.
Keywords: central apnea; etiology; depdc5; depdc5 related ... 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
Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype–phenotype correlation study in eight pediatric cases
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2025.1595667
Abstract: Objective To summarize the clinical characteristics of eight children with DEPDC5 gene variant-associated epilepsy. Methods Clinical data of children with DEPDC5-related epilepsy treated at Hebei Provincial Children’s Hospital from April 2020 to November 2024 were… read more here.
Keywords: case report; epilepsy; depdc5 related; case ... See more keywords