TABLE 1.
Genes that are significantly associated with generalized epilepsy and cause epilepsy/seizures in monogenic cases/models and, hence, are promising candidate causal generalized epilepsy genes
| Gene | Citations, n | GE FDR | GO terms (selected) |
|---|---|---|---|
| AP3D1 | 5 | .001574 | Anterograde synaptic vesicle transport |
| CAMTA1 | 2 | .002134 | Calcineurin‐NFAT signaling |
| SCN1A | 290 | .003081 | Voltage‐gated sodium channel activity |
| SETD1A | 3 | .011449 | Protein binding |
| STX1B | 8 | .021646 | Signaling receptor binding |
| RAPGEF2 | 4 | .028498 | Guanyl‐nucleotide exchange factor activity |
| UBTF | 2 | .031009 | RNA polymerase I cis‐regulatory region sequence‐specific DNA binding |
| GABRA2 | 9 | .032305 | GABA‐gated chloride ion channel activity |
| PCDH7 | 1 | .033095 | Calcium ion binding |
| RIMS1 | 1 | .033095 | Synaptic vesicle exocytosis |
| PHACTR1 | 2 | .03322 | Actin cytoskeleton organization |
| RBFOX1 | 5 | .037034 | Protein binding |
| TTC21B | 2 | .038402 | Positive regulation of canonical Wnt signaling pathway |
| MMP27 | 1 | .043774 | Zinc ion binding |
| DOC2A | 1 | .047941 | Calcium ion binding and syntaxin binding |
| GRM4 | 4 | .049296 | G protein‐coupled glutamate receptor signaling |
Note: Number of citations is from Seizure‐Associated Genes Across Species database.
Abbreviations: GABA, γ‐aminobutyric acid; GE FDR, false discovery rate for association with generalized epilepsy (see text); GO, gene ontology; NFAT, nuclear factor of activated T cells.