Table 3 Summary of evidence implicating possibly pathogenic genes in epileptic encephalopathies
From: Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies
Gene | Hotspot variant (no.) | Other dominantly inherited epilepsy phenotype | Funotype related to epilepsy |
|---|---|---|---|
Ion channel | |||
 SCN2A | A263 (4), R853 (4), E999 (3), L1342 (3), R1882 (5) | BFNS | GOF |
BFNS | LOF? | ||
 SCN8A | R850 (3), R1617 (4), A1650 (3), R1872 (13) | BFIS (UD) | GOF |
LOF? | |||
 KCNA1 | / | EA/myokymiaa (UD) | LOF? |
 KCNA2 | R297 (7), T374 (3), P405 (4) | HSPa | LOF |
/ | GOF? | ||
 CACNA1A | A713 (3) | EA/FHMa | / |
 GABRA1 | M263 (3) | IGE, JME | LOF |
 GABRB1 | / | / | LOF |
 GABRB2 | Y244 (4) | / | LOF |
 GABRB3 | / | CAE | LOF |
 GRIN2A | / | FE | GOF |
FE | LOF? | ||
 GRIN2D | / | / | GOF |
 HCN1 | / | / | LOF |
/ | / | GOF? | |
Non-ion channel | |||
 ANKRD11 | / | KBGSa | / |
 ATP1A2 | / | FHMa | / |
 DNM1L | / | / | LOF |
 DYNC1H1 | / | MRa | / |
 EEF1A2 | G70 (4), E122 (3) | / | / |
 FOXG1 | / | RTTa | / |
 HECW2 | R1330 (3) | / | / |
 NACC1 | R298 (4) | / | / |
 NEDD4L | / | PNHa (UD) | / |
 NTRK2 | Y434 (4) | / | / |
 SLC2A1 | / | Dystoniaa | LOF |
 SYNGAP1 | / | / | LOF |
 YWHAG | R132 (3) | / | / |
X-linked | |||
 ALG13 | N107 (6) | / | / |
 MECP2 | / | RTTa | LOF |
 PIGA | / | / | LOF |
 SLC9A6 | / | MRa | / |
