ReviewJournal of applied genetics2015
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Review in Journal of applied genetics, 2015. 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, 39 citations in OpenAlex.
- Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.Neurobiology of disease · 2022Article
- Article
- Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.International journal of molecular sciences · 2022Review
- Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.Human mutation · 2022Article
- Modifying PCDH19 levels affects cortical interneuron migration.Frontiers in neuroscience · 2022Article
- Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.Journal of clinical medicine · 2021Article
- Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).Molecular neurobiology · 2021Article
- Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.Brain and behavior · 2019Article
- Mosaicism and incomplete penetrance ofJournal of medical genetics · 2019Article
- Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.Medicine · 2018Article
- Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.BMC medical genetics · 2018Article
- 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.Human molecular genetics · 2018Article
- Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Indian journal of pediatrics · 2016Review
- X-linked heterozygous mutations inMolecular vision · 2016Article
- Article
- A Case Report of Parental Germline Mosaicism in theBasic and clinical neuroscienceArticle
- Identification ofAnnals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE), phenotypically resembling Dravet syndrome (DS). It is characterised by a variable degree of intellectual deficits and epilepsy. EFMR is caused by heterozygous mutations in the PCDH19 gene (locus Xq22.1) encoding protocadherin-19, a protein that is highly expressed during brain development. The protein is involved in cell adhesion and probably plays an important role in neuronal migration and formation of synaptic connections. EFMR is considered X-linked of variable mutations' penetrance. Mutations in the PCDH19 gene mainly arise de novo, but if inherited, they show a unique pattern of transmission. Females with heterozygous mutations are affected, while hemizygous males are not, regardless of mutation carriage. This singular mode might be explained by cell interference as a pathogenic molecular mechanism leading to neuronal dysfunction. Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients. Therefore, the PCDH19 gene is now estimated to be the second, after SCN1A, most clinically relevant gene in epilepsy.
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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.