ReviewEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2022
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.
Review in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Subarachnoid hemorrhage: epidemiology, risk factors, pathogenesis, and clinical therapies.Molecular biomedicine · 2026Review
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Transition to Piscivory Seen Through Brain Transcriptomics in a Juvenile Percid Fish: Complex Interplay of Differential Gene Transcription, Alternative Splicing, and ncRNA Activity.Journal of experimental zoology. Part A, Ecological and integrative physiology · 2025Article
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.Nature communications · 2024Article
- Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome withMolecular syndromology · 2024Article
- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Loss of symmetric cell division of apical neural progenitors drivesmedRxiv : the preprint server for health sciences · 2024Article
- PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.Cell reports · 2023Article
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Authors and funding
17 authors at 10 institutions in 3 countries.
Funding
Abstract
PCDH12 is a member of the non-clustered protocadherin family of calcium-dependent cell adhesion proteins, which are involved in the regulation of brain development and endothelial adhesion. To date, only 15 families have been reported with PCDH12 associated disease. The main features previously associated with PCDH12 deficiency are developmental delay, movement disorder, epilepsy, microcephaly, visual impairment, midbrain malformations, and intracranial calcifications. Here, we report novel clinical features such as onset of epilepsy after infancy, episodes of transient developmental regression, and dysplasia of the medulla oblongata associated with three different novel truncating PCDH12 mutations in five cases (three children, two adults) from three unrelated families. Interestingly, our data suggests a clinical overlap with interferonopathies, and we show an elevated interferon score in two pediatric patients. This case series expands the genetic and phenotypic spectrum of PCDH12 associated diseases and highlights the broad clinical variability.
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Registered trials
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