Article
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
BMC medical genetics - 29 May 2014
Du Xiaonan, An Yu, Yu Lifei, Liu Renchao, Qin Yanrong, Guo Xiaohong, Sun Daokan, Zhou Shuizhen, Wu Bailin, Jiang Yong-Hui, Wang Yi
Abstract excerpt
BACKGROUND: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to...
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