ArticleAnnals of neurology2018
Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA.
Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 56 citations in OpenAlex.
- Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy.JCI insight · 2025Article
- The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment.Epilepsia · 2025Article
- DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46.Neurobiology of disease · 2025Article
- Review
- Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms.Acta epileptologica · 2025Review
- The mTOR pathway geneseLife · 2024Article
- Anti-seizure gene therapy for focal cortical dysplasia.Brain : a journal of neurology · 2024Article
- The mTOR pathway genesbioRxiv : the preprint server for biology · 2024Article
- Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.Annals of neurology · 2023Article
- Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies.Orphanet journal of rare diseases · 2023Article
- Modeling genetic mosaicism of the mammalian target of rapamycin pathway in the cerebral cortex.Frontiers in mammal science · 2023Article
- NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.Brain : a journal of neurology · 2022Article
- Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.Human molecular genetics · 2022Article
- Early and Bi-hemispheric seizure onset in a rat glioblastoma Multiforme model.Neuroscience letters · 2022Article
- Review
- RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.PLoS biology · 2021Article
- Defining the latent period of epileptogenesis and epileptogenic zone in a focal cortical dysplasia type II (FCDII) rat model.Epilepsia · 2021Article
- Widespread labeling and genomic editing of the fetal central nervous system byDevelopment (Cambridge, England) · 2021Article
- Corrigendum: Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.Frontiers in neuroanatomy · 2021Article
- Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.Frontiers in neuroanatomy · 2021Review
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Epileptogenic mechanisms in focal cortical dysplasia (FCD) remain elusive, as no animal models faithfully recapitulate FCD seizures, which have distinct electrographic features and a wide range of semiologies. Given that DEPDC5 plays significant roles in focal epilepsies with FCD, we used in utero electroporation with clustered regularly interspaced short palindromic repeats gene deletion to create focal somatic Depdc5 deletion in the rat embryonic brain. Animals developed spontaneous seizures with focal pathological and electroclinical features highly clinically relevant to FCD IIA, paving the way toward understanding its pathogenesis and developing mechanistic-based therapies. Ann Neurol 2018;83:140-146.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.