Infantile spasms are associated with abnormal copy number variations

Vijay N. Tiwari, Senthil K. Sundaram, Harry T. Chugani, A. H.M.M. Huq

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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 rare, large (4.8 Mb) de novo duplication was detected in the 15q11-13 region of 1 patient. In addition, 3 known pathogenic CNVs (present in the patient as well as 1 of the parents) were detected in total. In 1 patient, a known pathogenic deletion was detected in the region of 2q32.3. Similarly, in 1 other patient, 2 known pathogenic deletions in the regions of 16p11.2 and Xp22.13 (containing CDKL5) were detected. These findings suggest that some specific pathogenic CNVs predispose to infantile spasms and may be associated with different phenotypes.

Original languageEnglish
Pages (from-to)1191-1196
Number of pages6
JournalJournal of Child Neurology
Issue number10
StatePublished - Oct 2013


  • CNV
  • copy number variation
  • epilepsy
  • infantile spasms


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