Table 1. Examples of precision medicine in genetic epilepsy.
| Gene mutation | Related conditions | Treatment | Reference |
|---|---|---|---|
| ALDH7A1 | Pyridoxine-dependent epilepsy | Pyridoxine | Hunt et al 21 |
| DEPDC5 | Familial focal epilepsy with variable foci | Everolimus (in model studies only) |
Marsan et al
22
Galanopoulou et al 23 |
| GAMT, GATM, SLC6A8 | Cerebral creatine deficiency syndromes | Creatine monohydrate |
Bianchi et al
24
Salomons et al 25 |
| KCNJ10 | EAST syndrome | Carbamazepine | Ali et al 26 |
| KCNQ2 | Early infantile epileptic encephalopathy 7 (EIEE7) | Retigabine (in missense mutations) |
Kato et al
27
Weckhuysen et al 28 Numis et al 29 Schenzer et al 30 |
| KCNT1 | Nocturnal frontal lobe epilepsy Epilepsy of infancy with migrating focal seizures | Quinidine (in gain-of-function mutations) |
Bearden et al
31
Abdelnour et al 32 |
| PNPO | Pyridoxal 5′-phosphate-dependent epilepsy | Pyridoxal 5′-phosphate | Mills et al 33 |
| PRICKLE | Progressive myoclonic epilepsy | USP9X inhibitors (laboratory study) | Paemka et al 34 |
| SCN1A | Dravet syndrome GEFS+ ICE-GTC seizures Intractable infantile partial seizures Myoclonic-astatic epilepsySimple febrile seizuresLennox–Gastaut syndrome Infantile spasms |
Stiripentol Aggravation of seizures with sodium channel blockers |
Chiron et al
35
Thanh et al 36 Wirrell et al 37 Brunklaus et al 38 |
| SCN2A | Early infantile epileptic Encephalopathy 11 (EIEE11) Benign familial infantile seizures |
Sodium channel blockers(especially phenytoin and carbamazepine) |
Nakamura et al
39
Howell et al 40 |
| SCN8A | Early infantile epileptic encephalopathy 13 (EIEE13) |
Kong et al
41
Larsen et al 42 Boerma et al 43 Wagnon and Meisler 44 |
|
| SLC2A1 | GLUT1 DS | Ketogenic diet (avoid valproic acid and phenobarbital) |
Vannucci and Simpson
45
Alter et al 46 Kass et al 47 |
| TSC1 and TSC2 | Tuberous sclerosis complex | Everolimus |
Krueger et al
48
French et al 49 |
Abbreviations : EAST, epilepsy ataxia sensorineural deafness tubulopathy; GEFS + , genetic epilepsy with febrile seizures plus; GLUT1 DS, glucose transporter type 1 deficiency syndrome; ICE-GTC, intractable childhood epilepsy with generalized tonic–clonic.