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 | / |
