Genotype and phenotype analyses of 689 individuals with PCDH19-clustering epilepsy

Aggregator

31 Oct 2026 0 comments

PCDH19-clustering epilepsy (PCDH19-CE) is an infantile-onset neurodevelopmental disorder characterised by clusters of seizures, typically triggered by fever. PCDH19-CE follows an unusual X-linked inheritance pattern whereby heterozygous females, and males with X-chromosome disomy or pathogenic postzygotic mosaic PCDH19 variants, are affected, while hemizygous males are spared. We aggregate published PCDH19 variants and their corresponding PCDH19-CE phenotypes to analyse phenotype-genotype...