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
PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review.
Yang X et al.
Frontiers in Neurology, 2020
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
Male patients affected by mosaic PCDH19 mutations: five new cases.
de Lange IM et al.
Neurogenetics, 2017
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