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-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review.
Yang X et al.
Frontiers in Neurology, 2020
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
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
Perez D et al.
American Journal of Medical Genetics. Part A, 2017
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