ArticleNeurogenetics2017
Male patients affected by mosaic PCDH19 mutations: five new cases.
Article in Neurogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 55 citations in OpenAlex.
- Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression.Molecular psychiatry · 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
- Deriving early single-rosette brain organoids from human pluripotent stem cells.Stem cell reports · 2023Article
- Article
- Article
- Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.International journal of molecular sciences · 2022Review
- Article
- Case report: A novel mosaic nonsense mutation ofFrontiers in neurology · 2022Article
- Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation.Epilepsy & behavior reports · 2022Article
- Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report.Epilepsy & behavior reports · 2022Article
- Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.International journal of molecular sciences · 2021Review
- Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.Journal of clinical medicine · 2021Article
- Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.Human genomics · 2021Article
- Review
- Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.BMC medical genetics · 2020Article
- Characterization of seizure susceptibility in Pcdh19 mice.Epilepsia · 2020Article
- PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review.Frontiers in neurology · 2020Article
- Autism-like behaviors in male mice with a Pcdh19 deletion.Molecular brain · 2019Article
- Mosaicism and incomplete penetrance ofJournal of medical genetics · 2019Article
- Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.Frontiers in neuroscience · 2019Article
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Authors and funding
18 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy. Custom-targeted next generation sequencing gene panels for epilepsy genes were used. Clinical data were collected from medical records. All patients were mosaic in blood for likely pathogenic variants in the PCDH19 gene. In most, clinical features were very similar to the female phenotype, with normal development before seizure onset, which occurred between 5 and 10 months of age, clustering of seizures and sensitivity to fever. Four out of five patients had mild to severe ID and behavioural problems. We reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder (ages 10-14 years).
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