Table 1.
Treatment Considerations for Genetic Forms of Epilepsy.
| Gene | Syndrome(s) | Treatment considerations |
|---|---|---|
| ALDH7A1 | Pyridoxine-dependent epilepsy | pyridoxine |
| GRIN2A | GRIN2A-related epilepsy | memantine or dextromethorphan for gain-of-function variants |
| KCNQ2 | Benign familial neonatal/infantile seizures; KCNQ2-related epileptic encephalopathy | ezogabine for loss-of-function variants |
| KCNT1 | Epilepsy of infancy with migrating focal seizures | Quinidine for gain-of-function variants |
| PNPO | Pyridoxal 5′-phosphate-dependent epilepsy | pyridoxal 5′phosphate |
| PRRT2 | Infantile convulsions; paroxysmal kinesigenic dyskinesia | oxcarbazepine; carbamazepine |
| SCN1A | Dravet syndrome; SCN1A-related epilepsy | avoid sodium channel blockers |
| SCN2A | SCN2A-related epilepsy | phenytoin; high-dose carbamazepine |
| SCN8A | SCN8A-related epilepsy | phenytoin; high-dose carbamazepine |
| SLC2A1 | Glucose transporter deficiency | ketogenic diet |
| TSC1; TSC2 | Tuberous sclerosis complex (spasms) | vigabatrin |