PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency

PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency

ObjectiveTo analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity.MethodsClinical data and peripheral blood samples of 11 male mosaic patients were co...

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Bibliographic Details
Main Authors: Yi Chen, Xiaoxu Yang, Jiaoyang Chen, Xiaoling Yang, Ying Yang, Aijie Liu, Xiaoli Zhang, Wenjuan Wu, Dan Sun, Zhixian Yang, Yuwu Jiang, Yuehua Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Neurology
Subjects:
PCDH19 gene
male
mosaicism
epilepsy
phenotype
genotype
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.1041509/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.1041509/full

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