Associated Papers
Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy.
Zhou W et al.
Frontiers in Neurology, 2023
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R et al.
Human Mutation, 2019
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
Kurian M et al.
Developmental Medicine and Child Neurology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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