Article
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.
Clinical genetics - 1 Aug 2024
Cheng Miaomiao, Bai Ling, Yang Ying, Liu Wenwei, Niu Xueyang, Chen Yi, Tan Quanzhen, Yang Xiaoling, Wu Qixi, Zhao Han-Qing, Zhang Yuehua
Abstract excerpt
We summarize the copy number variations (CNVs) and phenotype spectrum of infantile epileptic spasms syndrome (IESS) in a Chinese cohort. The CNVs were identified by genomic copy number variation sequencing. The CNVs and clinical data were analyzed. 74 IESS children with CNVs were enrolled. 35 kinds of CNVs were identified. There were 11 deletions and 5 duplications not reported previously in IESS, including 2...
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