ArticleNeurobiology of disease2022
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.
Article in Neurobiology of disease, 2022. 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, 18 citations in OpenAlex.
- Canalization of neural dynamics by δ-protocadherins in the developing zebrafish optic tectum.PLoS genetics · 2026Article
- Calcium and CaBrain sciences · 2026Review
- Scientific Symposium: Biological Sex as a Factor in Epilepsy Research and Treatment.Epilepsy currents · 2026Article
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Beyond Impaired GABAergic Signaling: Inflammation and Metabolic Dysfunction in Genetic Epilepsy Induced by GABRG2 Mutation.Molecular neurobiology · 2025Article
- Automated detection of complex zebrafish seizure behavior at scale.Communications biology · 2025Article
- Machine learning enables high-throughput, low-replicate screening for novel anti-seizure targets and compounds using combined movement and calcium fluorescence in larval zebrafish.European journal of pharmacology · 2025Article
- Canalization of circuit assembly by δ-protocadherins in the zebrafish optic tectum.bioRxiv : the preprint server for biology · 2025Article
- Grassroots: Leveraging mission-aligned developmental programs to enhance the academic health center.Journal of clinical and translational science · 2025Article
- Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.iScience · 2024Article
- Mosaicism-independent mechanisms contribute to Pcdh19-related epilepsy and repetitive behaviors inProceedings of the National Academy of Sciences of the United States of America · 2024Article
- A Zebrafish-Based Platform for High-Throughput Epilepsy Modeling and Drug Screening in F0.International journal of molecular sciences · 2024Article
- Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.bioRxiv : the preprint server for biology · 2024Article
- Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.Frontiers in cell and developmental biology · 2024Article
- Genetic variants and phenotype analysis in a five-generation Chinese pedigree withFrontiers in neurology · 2023Article
- Case report: Identification of a recurrent pathogenicFrontiers in genetics · 2023Article
- A Case Report of Parental Germline Mosaicism in theBasic and clinical neuroscienceArticle
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Epilepsy is one of the most common neurological disorders. The X-linked gene PCDH19 is associated with sporadic and familial epilepsy in humans, typically with early-onset clustering seizures and intellectual disability in females but not in so-called 'carrier' males, suggesting that mosaic PCDH19 expression is required to produce epilepsy. To characterize the role of loss of PCDH19 function in epilepsy, we generated zebrafish with truncating pcdh19 variants. Evaluating zebrafish larvae for electrophysiological abnormalities, we observed hyperexcitability phenotypes in both mosaic and non-mosaic pcdh19
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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.