Fig. 3.

Summary of significant enrichment in de novo mutation and copy number variation (CNV) overlap in neurodevelopmental modules. Modules are grouped by class to indicate the degree of association of the seed gene with the epilepsy phenotype. Class 1, class 2, and class 3 modules correspond to the seed genes that have strong, moderate, and weak evidence of association with epilepsy, respectively. a Significant enrichment of missense (miss.) and loss-of-function (LOF) mutations for autism spectrum (ASD), intellectual disability (ID), developmental disability (DD), epilepsy (E), and schizophrenia cohorts within modules. b Comparison of log2 of significant (p < 0.05) enrichment of de novo mutation for variants annotated as ASD/ID/DD (left) or epilepsy (right). c Average odds ratio of de novo mutations annotated in epilepsy cases relative to controls is significantly greater in class 1 modules compared to class 3 modules