Research graph
References from Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion. Local targets link to admitted publications; unresolved targets remain external evidence.
Histopathological findings in brain tissue obtained during epilepsy surgery
10.1056/nejmoa1703784 · 2017 · External reference
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission
10.1111/epi.17301 · 2022 · External reference
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II
10.1111/epi.17495 · 2023 · External reference
Somatic mosaicism in brain disorders
10.1146/annurev-pathmechdis-111523-023528 · 2025 · External reference
Genetic mosaicism in the human brain: From lineage tracing to neuropsychiatric disorders
10.1038/s41583-022-00572-x · 2022 · External reference
Neocortical development and epilepsy: Insights from focal cortical dysplasia and brain tumours
10.1016/s1474-4422(21)00265-9 · 2021 · External reference
Developmental lineage of cell types in cortical dysplasia with balloon cells
10.1093/brain/awm175 · 2007 · External reference
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia
10.1038/s41593-025-01936-z · 2025 · External reference
mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy
10.1016/j.nbd.2023.106144 · 2023 · External reference
Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias
10.1016/j.celrep.2017.11.106 · 2017 · External reference
Dissecting the genetic basis of focal cortical dysplasia: A large cohort study
10.1007/s00401-019-02061-5 · 2019 · External reference
Precise detection of low-level somatic mutation in resected epilepsy brain tissue
10.1007/s00401-019-02052-6 · 2019 · External reference
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
10.1038/s41588-022-01276-9 · 2023 · External reference
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
10.1093/brain/awab376 · 2022 · External reference
Multifaceted role of mTOR (mammalian target of rapamycin) signaling pathway in human health and disease
10.1038/s41392-023-01608-z · 2023 · External reference
The landscape of epilepsy-related GATOR1 variants
10.1038/s41436-018-0060-2 · 2019 · External reference
DEPDC5-related epilepsy: A comprehensive review
10.1016/j.yebeh.2022.108678 · 2022 · External reference
Insights into DEPDC5-related epilepsy from 586 people: Variant penetrance, phenotypic spectrum, and treatment outcomes
10.1212/wnl.0000000000214235 · 2025 · External reference
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
10.1038/s41593-024-01747-8 · 2024 · External reference
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb
10.1186/s40478-023-01675-x · 2023 · External reference
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
10.1002/ana.24368 · 2015 · External reference
Association of MTOR mutations with developmental brain disorders, including megalencephaly. Focal cortical dysplasia, and pigmentary mosaicism
10.1001/jamaneurol.2016.0363 · 2016 · External reference
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy
10.1172/jci99384 · 2018 · External reference
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
10.1002/acn3.50815 · 2019 · External reference
Identification of a second-hit brain somatic DEPDC5 variant supports causality of a DEPDC5 germline variant of uncertain significance. Time for a classification update?
10.1002/ajmg.a.64204 · 2025 · External reference
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
10.1111/epi.13391 · 2016 · External reference
Reliability of human cortical organoid generation
10.1038/s41592-018-0255-0 · 2019 · External reference
Genetically engineered human cortical spheroid models of tuberous sclerosis
10.1038/s41591-018-0139-y · 2018 · External reference
Functional neuronal circuitry and oscillatory dynamics in human brain organoids
10.1038/s41467-022-32115-4 · 2022 · External reference
Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy
10.1038/s41380-021-01104-2 · 2021 · External reference
The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein
10.1126/sciadv.add5002 · 2023 · External reference
Generation and assembly of human brain region-specific three-dimensional cultures
10.1038/s41596-018-0032-7 · 2018 · External reference
Integrated analysis of multimodal single-cell data
10.1016/j.cell.2021.04.048 · 2021 · External reference
DoubletFinder: Doublet detection in single-cell RNA sequencing data using artificial nearest neighbors
10.1016/j.cels.2019.03.003 · 2019 · External reference
Conserved cell types with divergent features in human versus mouse cortex
10.1038/s41586-019-1506-7 · 2019 · External reference
Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex
10.1016/j.cell.2022.09.010 · 2022 · External reference
Reference-based analysis of lung single-cell sequencing reveals a transitional profibrotic macrophage
10.1038/s41590-018-0276-y · 2019 · External reference
RNA velocity-current challenges and future perspectives
10.15252/msb.202110282 · 2021 · External reference
clusterProfiler 4.0: A universal enrichment tool for interpreting omics data
2021 · External reference
Complex oscillatory waves emerging from cortical organoids model early human brain network development
10.1016/j.stem.2019.08.002 · 2019 · External reference
The notch pathway: A guardian of cell fate during neurogenesis
10.1016/j.ceb.2025.102543 · 2025 · External reference
Wnt-mediated self-renewal of neural stem/progenitor cells
10.1073/pnas.0808616105 · 2008 · External reference
DLK1 promotes neurogenesis of human and mouse pluripotent stem cell-derived neural progenitors via modulating notch and BMP signalling
10.1007/s12015-011-9298-7 · 2012 · External reference
Hes5 regulates the transition timing of neurogenesis and gliogenesis in mammalian neocortical development
10.1242/dev.147256 · 2017 · External reference
SynGO: An evidence-based, expert-curated knowledge base for the synapse
10.1016/j.neuron.2019.05.002 · 2019 · External reference
Data-driven historical characterization of epilepsy-associated genes
10.1016/j.ejpn.2022.12.005 · 2023 · External reference
TSC tunes progenitor balance and upper-layer neuron generation in neocortex
10.1038/s41586-025-09810-5 · 2026 · External reference
Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy
10.1002/ana.26256 · 2022 · External reference
Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1
10.1093/hmg/ddaa068 · 2020 · External reference
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility
10.1016/j.nbd.2017.12.010 · 2018 · External reference
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
10.1038/s41598-017-12574-2 · 2017 · External reference
Depdc5 knockout rat: A novel model of mTORopathy
10.1016/j.nbd.2016.02.010 · 2016 · External reference
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
10.1038/ng.2601 · 2013 · External reference
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
10.1212/wnl.0000000000000488 · 2014 · External reference
