Figure 2.

The global burden of deletions across different gene sets, hotspot regions and non-coding regions in four different epilepsy phenotypes. Common deletion burden was elucidated for epilepsy hotspot regions (Carvill and Mefford, 2013) and rare (<1% frequency) deletion burden was elucidated for all other gene lists (Category). Odds ratios (OR) and P-values were calculated using a binomial regression for common CNVs and a binomial regression for rare CNVs with sex as a covariate. CNVs are defined as ‘genic’ if they overlap 80% of a gene. Notably, not all individuals carry a CNV. (Results of CNV burden in neurodevelopmental disorder hotspots and genes are not shown because of very small sample sizes and no significance; results of duplication burden are shown in Supplementary Fig. 4.) When they exceed a specified limit, 95% CIs are clipped to arrows. *P-values surpassing the Bonferroni multiple testing for 36 tests cut-off (*P < 1.4 × 10⁻³).