Article
Infantile spasms are associated with abnormal copy number variations.
Journal of child neurology - 1 Oct 2013
Tiwari Vijay N, Sundaram Senthil K, Chugani Harry T, Huq A H M M
Abstract excerpt
The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pathogenic CNVs") are significant predisposing factors of infantile spasms. The authors performed a genome-wide analysis of single-nucleotide polymorphism genotyping microarray data to identify the role of de novo/known pathogenic large CNVs in 13 trios of children affected by infantile spasms. A...
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