Associated Papers
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.
Chen Y et al.
Frontiers in Neurology, 2022
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM4_ESM.xlsx › Supplemental_Table_2
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL et al.
Translational Psychiatry, 2020
32366910 (PubMed )
Supplement: 41398_2020_803_MOESM6_ESM.pdf
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.
Kolc KL et al.
Advances in Experimental Medicine and Biology, 2020
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
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Kolc KL et al.
Molecular Psychiatry, 2019
29892053 (PubMed )
Supplement: 41380_2018_66_MOESM1_ESM.xlsx › Review
Mosaicism and incomplete penetrance of PCDH19 mutations.
Liu A et al.
Journal of Medical Genetics, 2019
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
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
Liu A et al.
Clinical Genetics, 2017
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