Fig. 3.

Burden in neuronal and glial cells, ion channels, receptors and related interactors. The burden in developmental and epileptic encephalopathies (DEE), genetic generalized epilepsies (GGE) and non-acquired focal epilepsies (NAFE) is shown on the x-axis (log-odds from Likelihood Ratio Test; error bars indicate 95% confidence intervals). Gene-sets are shown on the y-axis (number of genes in parenthesis). The variant classes are shown in vertical panels. False-Discovery-Rate-adjusted p values are indicated with stars as follows: no star > 0·05, * < 0·05, ** < 0·005, *** < 0·0005, **** < 0·00005. (A) Burden in genes enriched in specific brain cells including neuron- or glia-enriched genes and their subtypes. (B) Burden in key biologically informed neuronal gene-sets with known or suspected relation to epilepsy. NMDA: N-Methyl-Dextro-Aspartate. ARC: neuronal activity-regulated cytoskeleton-associated protein (interactors). PSD-95: Post-Synaptic-Density protein 95 (interactors).