ArticleJournal of human genetics2018
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Epilepsy Associated Gene,Genes · 2025Article
- Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome withMolecular syndromology · 2024Article
- PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.Cell reports · 2023Article
- The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2022Review
- Metabolic and genetic disorders mimicking cerebral palsy.Neurosciences (Riyadh, Saudi Arabia) · 2019Review
- Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.Journal of human genetics · 2019Article
- A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.Journal of human genetics · 2018Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy. To understand phenotypic spectrum associated with PCDH12 variants, more reports are needed.
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