ArticleBrain : a journal of neurology2023
Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- From mice to clinical relevance: humanizing neuroscience with human-based model systems.Frontiers in cellular neuroscience · 2026Review
- Early and transient increase in cortical pyramidal cell excitability and delayed alteration of evoked synaptic transmission and t-SNARE proteins content in the hippocampus and neocortex of neonatal and juvenileFrontiers in cellular neuroscience · 2026Article
- Live-cell physiology in human brain tissue culture-the potential, the challenges, and the lessons learned.Frontiers in cellular neuroscience · 2026Review
- Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.International journal of molecular sciences · 2025Review
- Evidence for trans-synaptic propagation of oligomeric tau in human progressive supranuclear palsy.Nature neuroscience · 2025Article
- Divergent actions of physiological and pathological amyloid-β on synapses in live human brain slice cultures.Nature communications · 2025Article
- Exploring the singularity of human neurons: keep calm and carry on.Frontiers in synaptic neuroscience · 2025Review
- Development of the basic architecture of neocortical circuitry in the human fetus as revealed by the coupling spatiotemporal pattern of synaptogenesis along with microstructure and macroscale in vivo MR imaging.Brain structure & function · 2024Article
- Disease-linked mutations in Munc18-1 deplete synaptic Doc2.Brain : a journal of neurology · 2024Article
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.Genes · 2024Review
- p-tau Ser356 is associated with Alzheimer's disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003.Acta neuropathologica · 2024Article
- Functional analysis of epilepsy-linked pathogenic variants of the Munc18-1 gene in the inhibitory nervous system ofmicroPublication biology · 2024Article
- A guide to selecting high-performing antibodies for STXBP1 (UniProt ID: P61764) for use in western blot, immunoprecipitation, and immunofluorescence.F1000Research · 2024Article
- Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.Cell reports. Medicine · 2023Article
- Review
- The generation and properties of human cortical organoids as a disease model for malformations of cortical development.Neural regeneration research · 2023Review
- Cortico-thalamic development and disease: From cells, to circuits, to schizophrenia.Frontiers in neuroanatomy · 2023Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Early infantile developmental and epileptic encephalopathies are devastating conditions, generally of genetic origin, but the pathological mechanisms often remain obscure. A major obstacle in this field of research is the difficulty of studying cortical brain development in humans, at the relevant time period in utero. To address this, we established an in vitro assay to study the impact of gene variants on the developing human brain by using living organotypic cultures of the human subplate and neighbouring cortical regions, prepared from ethically sourced, 14-17 post-conception week brain tissue (www.hdbr.org). We were able to maintain cultures for several months, during which time the gross anatomical structures of the cortical plate, subplate and marginal zone persisted, while neurons continued to develop morphologically and form new synaptic networks. This preparation thus permits the study of genetic manipulations and their downstream effects on an intact developing human cortical network. We focused on STXBP1 haploinsufficiency, which is among the most common genetic causes of developmental and epileptic encephalopathy. This was induced using shRNA interference, leading to impaired synaptic function and a reduced density of glutamatergic synapses. We thereby provide a critical proof-of-principle for how to study the impact of any gene of interest on the development of the human cortex.
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