ArticleMolecular psychiatry2021
Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy.
Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
50 citing papers in PubMed, 73 citations in OpenAlex.
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- Acetaminophen produces limited molecular and functional effects in human cortical organoids.Molecular psychiatry · 2026Article
- Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion.Brain : a journal of neurology · 2026Article
- Three-dimensional microelectrode arrays forBiomedical engineering letters · 2026Review
- Modeling Epilepsies with Human Brain Organoids: Recent Advances and Ongoing Challenges.Epilepsy currents · 2026Review
- An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Base editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder.Scientific reports · 2026Article
- Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.Stem cell reports · 2026Article
- CDKL5 regulates the initiation of retrograde axonal transport through CLIP170-dynactin complex formation.The FEBS journal · 2026Article
- Scalable production of human cortical organoids using a biocompatible polymer.Nature biomedical engineering · 2025Article
- Impact of intermittent lead exposure on hominid brain evolution.Science advances · 2025Article
- Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons.Neurobiology of disease · 2025Article
- Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1.Stem cell reports · 2025Article
- The emergence of electrical activity in human brain organoids.Stem cell reports · 2025Review
- Cyborg organoids integrated with stretchable nanoelectronics can be functionally mapped during development.Nature protocols · 2025Review
- Beyond Structure: Next-Generation Electrophysiological Platforms for Functional Brain Organoids.International journal of stem cells · 2025Review
- Drug treatment alters performance in a neural microphysiological system of information processing.Communications biology · 2025Article
- Integrated Proteomics and Lipidomics Analysis of Hippocampus to Reveal the Metabolic Landscape of Epilepsy.ACS omega · 2025Article
- Independent genetic strategies define the scope and limits of CDKL5 deficiency disorder reversal.Cell reports. Medicine · 2025Article
- Human brain organoids: an innovative model for neurological disorder research and therapy.Frontiers in cellular neuroscience · 2025Review
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 3 countries.
Funding
Abstract
Early-onset epileptic encephalopathies are severe disorders often associated with specific genetic mutations. In this context, the CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by early-onset seizures, intellectual delay, and motor dysfunction. Although crucial for proper brain development, the precise targets of CDKL5 and its relation to patients' symptoms are still unknown. Here, induced pluripotent stem cells derived from individuals deficient in CDKL5 protein were used to generate neural cells. Proteomic and phosphoproteomic approaches revealed disruption of several pathways, including microtubule-based processes and cytoskeleton organization. While CDD-derived neural progenitor cells have proliferation defects, neurons showed morphological alterations and compromised glutamatergic synaptogenesis. Moreover, the electrical activity of CDD cortical neurons revealed hyperexcitability during development, leading to an overly synchronized network. Many parameters of this hyperactive network were rescued by lead compounds selected from a human high-throughput drug screening platform. Our results enlighten cellular, molecular, and neural network mechanisms of genetic epilepsy that could ultimately promote novel therapeutic opportunities for patients.
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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.