Fig 1. Functional genomics enrichments significantly enriched in genes affected by de novo CNVs in 33 patients presenting with seizures.

(A) Significant functional genomics enrichments. Many of these functions have links to seizures or associated phenomena (synaptic deficits, receptor signaling, gustatory aura[73]) but also to regions prone to copy number variation[74]. (B) Genes disrupted by short CNVs in patients were also observed to cluster significantly in a brain-specific gene co-expression network. Here we display the strongest clusters (r > 0.92 for all co-expression similarities) of genes from seizure patients from this network. (C) Overall, the functional enrichments identified known (HPO-defined) seizure genes for 11 of the 33 patients, and proposed causal genes for 21 of the remaining 22 patients.