… was found for NAFE, and DEE featured a burden in both. Top-ranked susceptibility genes …
derived from generalized vs. focal epilepsies revealed specific enrichment patterns of URVs …

… specific gene-set associations in these three epilepsy forms. … In addition to exome-wide burden
testing (one gene-set of all … a) 34 sets based on gene expression patterns in the brain and …

… Conclusions Using exome-based gene-set burden analysis, we … factors underlying the
complex genetic architecture of these … three different subtypes of common generalized and focal …

… We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability …
performed a gene-set analysis using lists of expert-curated gene sets involving 18 different synaptic …

… common forms of epilepsies – genetic generalized epilepsy (… with epilepsy, we performed
burden tests at a gene-set level, … can further elucidate the underlying molecular mechanisms, …

… encephalopathies and generalized and focal epilepsies, … with epilepsy, we performed burden
tests at a gene set level. … genetic risk underlying epilepsy across different genetic ancestries…

… We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability …
performed a gene-set analysis using lists of expert-curated gene-sets involving 18 different synaptic …

… Performing three separate analyses for the three epilepsy phenotypes, with independent …
Gene-set burden analysis: We examined the burden of qualifying ultra-rare variants (QVs) …

… that underlie the epilepsy phenotype and display distinct … ), revealing increased de novo
mutation burden in cases relative to … Modules seeded with genes from class 1 gene set contain a …

… that genetic factors can underlie this relationship. … epilepsy’, and 2.3k variants with both
JME and CAE. Using conjFDR, we identified 66 distinct loci shared between COG and epilepsies…