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

Yi Chen,Xiaoxu Yang,Jiaoyang Chen,Xiaoling Yang,Ying Yang,Aijie Liu,Xiaoli Zhang,Wenjuan Wu,Dan Sun,Zhixian Yang,Yuwu Jiang,Yuehua Zhang

Frontiers in neurology（2022）

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摘要

The predominant variant types were truncating and missense variants. Missense variants tended to have higher VAFs. Patients with a high VAF were more likely to have a more severe epileptic phenotype. Our findings shed light on the phenotypic implications of VAF in mosaic males with -RE.

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关键词

PCDH19 gene,epilepsy,genotype,male,mosaicism,phenotype,variant allele frequency

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