ArticleHuman molecular genetics2018
The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 67 citations in OpenAlex.
- GABASynapse (New York, N.Y.) · 2026Review
- The intracellular domain of the epilepsy protein PCDH19 regulates spine density in cortical neurons in vivo viaThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Cannabidiol in Developmental Epilepsy: Organoid-Guided Precision Medicine Across Critical Neurodevelopmental Windows.International journal of molecular sciences · 2026Review
- Bidirectional interaction between protocadherin 8 and the transcription factor Dbx1 regulates cerebral cortex development.Development (Cambridge, England) · 2026Article
- Neuronal activity drives PCDH9 cleavage and nuclear translocation to coordinate structural and functional remodeling.Frontiers in cellular neuroscience · 2025Article
- Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.Molecular psychiatry · 2024Article
- Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression.Molecular psychiatry · 2024Article
- Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties.Open biology · 2024Article
- A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.Molecular syndromology · 2024Article
- Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities.Journal of neurodevelopmental disorders · 2024Review
- Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.Translational psychiatry · 2024Review
- Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.Frontiers in cell and developmental biology · 2024Article
- Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy.Frontiers in cellular neuroscience · 2024Article
- Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.Neurobiology of disease · 2022Article
- Review
- Article
- Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology.Cureus · 2022Review
- The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.Cell reports · 2022Article
- PCDH19 interplay with GABA(A) receptors: a window to DEE9 pathogenetic mechanisms.Neural regeneration research · 2022Article
- Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The PCDH19 gene (Xp22.1) encodes the cell-adhesion protein protocadherin-19 (PCDH19) and is responsible for a neurodevelopmental pathology characterized by female-limited epilepsy, cognitive impairment and autistic features, the pathogenic mechanisms of which remain to be elucidated. Here, we identified a new interaction between PCDH19 and GABAA receptor (GABAAR) alpha subunits in the rat brain. PCDH19 shRNA-mediated downregulation reduces GABAAR surface expression and affects the frequency and kinetics of miniature inhibitory postsynaptic currents (mIPSCs) in cultured hippocampal neurons. In vivo, PCDH19 downregulation impairs migration, orientation and dendritic arborization of CA1 hippocampal neurons and increases rat seizure susceptibility. In sum, these data indicate a role for PCDH19 in GABAergic transmission as well as migration and morphological maturation of neurons.
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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.