Article
Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.
Clinical genetics - 1 Nov 2016
Ma Y, Chen C, Wang Y, Wu L, He F, Chen C, Zhang C, Deng X, Yang L, Chen Y, Wu L, Yin F, Peng J
Abstract excerpt
Copy number variations (CNVs) play an important role in the genetic etiology of unknown cause early-onset epileptic encephalopathies (EOEEs), but the genomic CNVs analysis of Chinese EOEEs children was rare. Here, we identified CNVs by single nucleotide polymorphism array in 116 patients with different subtypes of EOEEs. Of 116 patients 17 (14.66%) carried 19 large CNVs. A total of 14 CNVs in 12 patients were...
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