ReviewFrontiers in neurology2021
The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.
Review in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care.Epilepsia open · 2026Review
- The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity.Epilepsia open · 2026Review
- Vigabatrin-Associated Brain Abnormalities on MRI in a Patient with PCDH19-Clustering Epilepsy.Journal of clinical medicine · 2026Article
- Monogenic defects in Russian children with autism spectrum disorders.World journal of clinical pediatrics · 2025Article
- A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features.Journal of clinical medicine · 2025Article
- Tcf4 Deficiency causes recurrent seizures in mice.Progress in neurobiology · 2025Article
- The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.International journal of molecular sciences · 2025Article
- Triplication of theGenes · 2024Article
- Protocadherin 19 regulates axon guidance in the developing Xenopus retinotectal pathway.Molecular brain · 2024Article
- An In Vivo and In Silico Approach Reveals Possible Sodium Channel Nav1.2 Inhibitors fromBrain sciences · 2024Article
- Review
- Genetic variants and phenotype analysis in a five-generation Chinese pedigree withFrontiers in neurology · 2023Article
- Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.BMC medical genomics · 2022Article
- Article
- Case report: A novel mosaic nonsense mutation ofFrontiers in neurology · 2022Article
- Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report.Epilepsy & behavior reports · 2022Article
- A Case Report of Parental Germline Mosaicism in theBasic and clinical neuroscienceArticle
- Novel advanced patient-derivedFrontiers in neurologyReview
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Protocadherin 19 (PCDH19) gene is one of the most common genes involved in epilepsy syndromes. According to literature data PCDH19 is among the 6 genes most involved in genetic epilepsies. PCDH19 is located on chromosome Xq22.1 and is involved in neuronal connections and signal transduction. The most frequent clinical expression of PCDH19 mutation is epilepsy and mental retardation limited to female (EFMR) characterized by epileptic and non-epileptic symptoms affecting mainly females. However, the phenotypic spectrum of these mutations is considerably variable from genetic epilepsy with febrile seizure plus to epileptic encephalopathies. The peculiar exclusive involvement of females seems to be caused by a cellular interference in heterozygosity, however, affected mosaic-males have been reported. Seizure types range from focal seizure to generalized tonic-clonic, tonic, atonic, absences, and myoclonic jerks. Treatment of PCDH19-related epilepsy is limited by drug resistance and by the absence of specific treatment indications. However, seizures become less severe with adolescence and some patients may even become seizure-free. Non-epileptic symptoms represent the main disabilities of adult patients with PCDH19 mutation. This review aims to analyze the highly variable phenotypic expression of PCDH19 gene mutation associated with epilepsy.
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