Fig. 2
Genome-wide significant loci of all analyses and prioritized biological epilepsy genes. Genes were prioritized based on 6 criteria and scored based on the number of criteria met per gene (filled red boxes). The highest scoring gene, or multiple if they have the same score, in each locus is reported as ‘prioritized biological epilepsy gene(s)’. Similar to previous studies17,18, we used a minimum score of 2 to define these genes and we noted ‘none’ if no gene in the locus reached this score. Filled blue boxes indicate overlap with known targets of anti-epileptic drugs and established monogenic epilepsy genes. The lead SNP is defined as the SNP with the lowest P-value in the locus and the minor allele is displayed in brackets. P-values and Z-scores for All epilepsy, Focal epilepsy and Generalized epilepsy were calculated with fixed-effects trans-ethnic meta-analyses. P-values and Z-scores for JME, CAE, and Focal HS were calculated with BOLT-LMM. MAF minor allele frequency in the Human Reference Consortium reference panel. The direction of the Z-score is signed with respect to the minor allele. TWAS: significant TWAS association (based on data from the CommonMind Consortium), eQTL: significant eQTL within locus (based on data from the ROS/MAP projects), Brain exp: the gene is preferentially expressed in the brain, Missense: epilepsy GWAS missense variant in locus, PPI: gene prioritized by protein-protein interaction, KO mouse: relevant knockout mouse phenotype
