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
PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review.
Yang X et al.
Frontiers in Neurology, 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
Male patients affected by mosaic PCDH19 mutations: five new cases.
de Lange IM et al.
Neurogenetics, 2017
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
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
Thiffault I et al.
American Journal of Medical Genetics. Part A, 2016
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