ArticleEMBO molecular medicine2021
Modeling genetic epileptic encephalopathies using brain organoids.
Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Uncovering convergence and divergence between autism and schizophrenia using genomic tools and patients' neurons.Molecular psychiatry · 2025Pooled it
- Proteins and Transcriptional Dysregulation of the Brain Extracellular Matrix in Parkinson's Disease: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Epilepsy as a Multiscale Network Disorder: Integrating Precision Therapeutics and Emerging Experimental Platforms.Pharmaceutics · 2026Review
- Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?Journal of neuroscience research · 2026Review
- GABACellular and molecular neurobiology · 2026Review
- Cannabidiol in Developmental Epilepsy: Organoid-Guided Precision Medicine Across Critical Neurodevelopmental Windows.International journal of molecular sciences · 2026Review
- Patient-derived brain organoids reveal divergent neuronal activity across subpopulations of autism spectrum disorder.Translational psychiatry · 2026Article
- From mice to clinical relevance: humanizing neuroscience with human-based model systems.Frontiers in cellular neuroscience · 2026Review
- Human Cortical Organoids with a Novel SCN2A Variant Exhibit Hyperexcitability and Differential Responses to Anti-Seizure Compounds.Neuroscience bulletin · 2025Article
- Cellular Characterization and Neural Electrophysiology in Cerebral Organoid Models of Neurological Disorders.Aging and disease · 2025Review
- Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Toxicity assessment using neural organoids: innovative approaches and challenges.Toxicological research · 2025Review
- Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.Epilepsia open · 2024Article
- Pluripotent stem cell-derived organoids: A brief history of curiosity-led discoveries.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Review
- Progress and potential of brain organoids in epilepsy research.Stem cell research & therapy · 2024Review
- Article
- WONOEP appraisal: Modeling early onset epilepsies.Epilepsia · 2024Review
- Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.International journal of molecular sciences · 2024Article
- Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.Molecular genetics & genomic medicine · 2024Article
- Morphogenetic Designs, and Disease Models in Central Nervous System Organoids.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Developmental and epileptic encephalopathies (DEE) are a group of disorders associated with intractable seizures, brain development, and functional abnormalities, and in some cases, premature death. Pathogenic human germline biallelic mutations in tumor suppressor WW domain-containing oxidoreductase (WWOX) are associated with a relatively mild autosomal recessive spinocerebellar ataxia-12 (SCAR12) and a more severe early infantile WWOX-related epileptic encephalopathy (WOREE). In this study, we generated an in vitro model for DEEs, using the devastating WOREE syndrome as a prototype, by establishing brain organoids from CRISPR-engineered human ES cells and from patient-derived iPSCs. Using these models, we discovered dramatic cellular and molecular CNS abnormalities, including neural population changes, cortical differentiation malfunctions, and Wnt pathway and DNA damage response impairment. Furthermore, we provide a proof of concept that ectopic WWOX expression could potentially rescue these phenotypes. Our findings underscore the utility of modeling childhood epileptic encephalopathies using brain organoids and their use as a unique platform to test possible therapeutic intervention strategies.
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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.