常見癲癇疾病
| 疾病 | 基因 |
| PED/ DYT18 | SLC2A1, GLUT1 |
| PKD | PRRT2 |
| PNKD | PNKD/MR-1 |
| EIEE | SLC25A22 |
| Ohtahara syndrome | STXBP1, ARX |
| West syndrome | ARX, CDKL5 |
| Dravet syndrome (SMEI) | SCN1A, PCDH19, GABRG2 |
| GEFS+, SMEI (Dravet) | SCN1A (Chr 2q24) |
| GEFS+, Benign familial neonatal seizures | SCN2A (Chr 2q24) |
| GEFS+ | SCN1B (Chr 19q13) |
| Benign familial neonatal seizure | KCNQ2, KCNQ3 |
| Idiopathic generalized epilepsy | CLN2 (Chr 3q26) |
| Absence seizure | CACNA1A (P/Q type) |
| IGE (Idiopathic generalized epilepsy) | CACNB4 |
| ADNFLE | CHRNA4/B2 (Chr 20q/1q) |
| GEFS+ | GABRG2 |
| JME | GABRA1, EFHC1 |
| AD, Partial epilepsy with auditory features | LGI1 |
| Childhood absence | GABRG2, CACNA1H |
| SHE (Sleep related hypermotor epilepsy) 睡眠相關性過動癲癇 | CHRNA4, CHRNA2, CHRNB2, DEPDC5, KCNT1, NPRL2, NPRL3, PRIMA1 |
| FFEVF (Familal focal epilepsy with variable foci) 多變病灶之家族性局灶癲癇 | DEPDC5, NPRL2, NPRL3 |
| EAF (Epilepsy with auditory features) 具聽覺表現之癲癇 | LGI1, RELN, MICAL1 |
Progressive myoclonic epilepsies (PME)
| 疾病 | 蛋白 | Gene |
| Unverricht-Lundborg disease | EPM1 | Cystatin B |
| Lafora body disease | EPM2A | Laforin (protein tyrosine phosphatase) |
| MERRF | tRNA-Lys | mitochondrial lysine tRNA |
| DRPLA | DRPLA | ATN-1 (Atrophin-1) |
| Gaucher disease | PSAP | β-Glucocerebrosidase |
| Sialidosis type I | NEU1 | Sialidase |
| Ceroid lipofuscinosis (CLN) | CLN | CLN2, 3, 5, 6 |
考古出過的基因
| 疾病 | 基因 |
|---|---|
| Lissencephaly | LIS, RELN |
| Schizencephaly | EMX2 |
| PVNH | FLNA |
| Double cortex | DCX |
| Holoprosencephaly | SHH |
