ArticleAmerican journal of human genetics2025
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.
Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exploring the landscape of developmental and epileptic encephalopathies and gene research global dynamics via bibliometric study 2001-2025.Frontiers in neurology · 2025Pooled it
- Variants inGenes & diseases · 2026Article
- Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
- Implication of genetic-dependent stage in the development ofFrontiers in human neuroscience · 2026Article
- Biological Context-Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder.Genetics research · 2026Article
- Haploinsufficiency of brain-specific kinase BRSK1 causes epilepsy and neurodevelopmental disorders.Epilepsia · 2025Article
- PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.Nature communications · 2025Article
- The multitalented TIP60 chromatin remodeling complex: wearing many hats in epigenetic regulation, cell division and diseases.Epigenetics & chromatin · 2025Review
- Identification ofJournal of medical genetics · 2025Article
- MDN1 variants cause susceptibility to epilepsy : For the China Epilepsy Gene 1.0 Project.Acta epileptologica · 2025Article
- Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.medRxiv : the preprint server for health sciences · 2025Article
- Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report.Frontiers in behavioral neuroscience · 2025Article
- Epilepsy-associatedFrontiers in neurology · 2025Article
- De NovoHuman mutation · 2025Article
- Toward precision medicine inFrontiers in neurologyArticle
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Authors and funding
31 authors.
Funding
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Abstract
EP400 encodes a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes. The gene-disease association of EP400 is undetermined. In this study, we performed trio-based whole-exome sequencing in a cohort of 402 families with epilepsy and neurodevelopmental disorders (NDDs) and identified compound heterozygous EP400 variants in six unrelated individuals. Six additional EP400 individuals were recruited via the match platform of China, including two de novo heterozygous and four compound heterozygous variants. The individual with a heterozygous de novo frameshift variant presented with NDDs, while the others exhibited epilepsy and NDDs, explained by the damaged genetic dependence quantity. EP400 presented significantly higher excesses of variants in the individuals. Clustering analysis revealed that the majority paralogs of EP400 were associated with NDDs/epilepsy and co-expressed highly with EP400. Analysis of the spatiotemporal expression indicated that EP400 is highly expressed in the developing brain and cells during differentiation, indicating its vital role in neurodevelopment; EP400 is predominantly expressed in inhibitory neurons in the early stage but in excitatory neurons in the mature stage. The development-dependent expression pattern of neuron specificity explained the favorable outcome of epilepsy. Knockdown of EP400 ortholog in Drosophila caused significantly increased susceptibility to seizures and abnormal neuronal firing. The ep400 crispant zebrafish exhibited brain developmental abnormalities, poorer adaptability, lower response to stimulation, epileptic discharges, abnormal cellular apoptosis, and increased susceptibility to seizures. Transcriptome analysis showed that ep400 deficiency caused expressional dysregulation of 84 epilepsy/NDD-associated genes, including 11 highly dose-sensitive genes. This study identified EP400 as a causative gene of epilepsy/NDDs.
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