Novel copy number variations and phenotypes of infantile epileptic spasms syndrome

In conclusion, CNVs is a prominent etiology of IESS. 1p36 deletion and 15q duplication occurred most frequently. CNV detection should be performed in patients with IESS of unknown causes, especially in children with craniofacial anomalies and microcephaly.PMID:38544467 | DOI:10.1111/cge.14520

Source: Clinical Genetics - March 28, 2024 Category: Genetics & Stem Cells Authors: Miaomiao Cheng Ling Bai Ying Yang Wenwei Liu Xueyang Niu Yi Chen Quanzhen Tan Xiaoling Yang Qixi Wu Han-Qing Zhao Yuehua Zhang Source Type: research