Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder
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DOI: 10.1126/science.aaz3893
Abstract: More is not always better Mutations in X-linked genes usually affect male individuals more than females, but the opposite characterizes the Protocadherin-19 gene (PCDH19) on the X chromosome. Mutations in the PCDH19 cell-adhesion molecule cause… read more here.
Keywords: mossy fiber; pcdh19; mice; pcdh19 disorder ... See more keywords
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency
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DOI: 10.3389/fneur.2022.1041509
Abstract: Objective To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity. Methods Clinical data and peripheral blood samples… read more here.
Keywords: low vaf; group; pcdh19; vaf group ... See more keywords
Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy
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DOI: 10.3389/fneur.2023.1107904
Abstract: Objective Albeit the gene of PCDH19-FE was ascertained, the correlation of gene mutation, PCDH19 protein structure, and phenotype heterogeneity remained obscure. This study aimed to report a five-generation pedigree of seven female patients of PCDH19-FE… read more here.
Keywords: genetic variants; pedigree pcdh19; five generation; analysis ... See more keywords
Modifying PCDH19 levels affects cortical interneuron migration
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.887478
Abstract: PCDH19 is a transmembrane protein and member of the protocadherin family. It is encoded by the X-chromosome and more than 200 mutations have been linked to the neurodevelopmental PCDH-clustering epilepsy (PCDH19-CE) syndrome. A disturbed cell-cell… read more here.
Keywords: cell; cortical interneuron; migration; interneuron migration ... See more keywords