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
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
Kozina AA et al.
Bmc Medical Genetics, 2020
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
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
Tan Y et al.
Bmc Medical Genetics, 2018
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 epilepsy in two mosaic male patients.
Terracciano A et al.
Epilepsia, 2016
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