From: Novel and de novo mutations in pediatric refractory epilepsy
Clinical diagnosis | Cases | P/LP mutations | P/LP gene(recurrent no.) |
---|---|---|---|
DS | 23 | 16 | SCN1A (16) |
OS | 10 | 2 | KCNQ2 (1), SCN2A (1) |
OS-WS | 2 | 1 | STXBP1 (1) |
WS | 10 | 4 | STXBP1 (1), KCNT1 (1), CDKL5 (1), ADSL (1) |
WS-LGS | 2 | – | – |
LGS | 5 | – | – |
EIMFS | 2 | – | – |
ECSWS | 2 | – | – |
EME | 1 | – | – |
LKS | 1 | – | – |
UEE | 42 | 8 | CACNA1A (1), GABRA1 (1), GABRB3 (1), SCN8A (2), IQSEC2 (1), PCDH19 (1), CHD2 (1) |
Doose | 4 | 1 | SYNGAP1 (1) |
TLE | 1 | – | – |
GLUT1-DS | 1 | 1 | SLC2A1 (1) |
Rett | 3 | 1 | MECP2 (1) |
TSC | 5 | 5 | TSC2 (5) |
SWS | 1 | – | – |
UE | 57 | 4 | VRK2 (1), ATP1A2 (1), TSC (1), SLC9A6 (1) |
Total | 172 | 43 | – |