Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

ABSTRACT: Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic syna

SUBMITTER: Paciorkowski AR 

PROVIDER: S-EPMC3230360 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature