CHRNA4 | Cholinergic receptor nicotinic alpha 4 subunit | Nicotinergic acetylcholine receptor | Nocturnal frontal lobe epilepsy | Zonisamide, acetazolamide, and nicotine patches | Zonisamide and acetazolamide are not really “precision.” Nicotinergic agents are theoretically of possible use, but none have been proven to be of value currently |
GRIN2A | Glutamate ionotropic receptor N-methyl-D-aspartate (NMDA) type subunit 2A | Glutamate (NMDA) receptor | Focal epilepsy and speech disorder with or without mental retardation | Memantine | Has been proposed on the basis of two studies only, none published since 2015 |
KCNQ2 | Potassium voltage-gated channel subfamily Q member 2 | Potassium channel | Benign familial neonatal seizures or, in infancy and childhood, EIEE | Retigabine/ezogabine | Has in vitro evidence to support its use in gain-of-function mutants, but prospective controlled trials are still lacking |
KCNT1 | Potassium sodium-activated channel subfamily T member 1 | Potassium channel | EIEE | Quinidine | The evidence is equivocal, with many negative reports after the initial reports of benefit |
PCDH19 | Protocadherin 19 | Cell adhesion molecule | EIEE | Potassium bromide, clobazam | Only anecdotal evidence. Better rationale for hormonal treatment with allopregnanolone. |
PLCB1 | Phospholipase C beta 1 | Enzyme | EIEE | Inositol | Not any evidence for this in humans |
PRRT2 | Proline-rich transmembrane protein 2 | Unclassified | Benign familial infantile seizures | Carbamazepine, oxcarbazepine | Not really precision (mechanism-based) treatments |
SCN1A | Sodium voltage-gated channel alpha subunit 1 | Voltage-gated sodium channel | Dravet syndrome | GABAergic drugs, fenfluramine, cannabidiol | Fenfluramine and cannabidiol cannot be considered precision (mechanism-based) treatments |
SCN2A | Sodium voltage-gated channel alpha subunit 2 | Voltage-gated sodium channel | Benign familial infantile seizures or EIEE | High levels of phenytoin; levetiracetam | Not yet clear whether levetiracetam can be considered precision (mechanism-based) treatment |
SCN2A | Sodium voltage-gated channel alpha subunit 2 | Voltage-gated sodium channel | EIEE, status epilepticus | Lidocaine, acetazolamide | Evidence for precision (mechanism-based) treatment status limited |
SCN8A | Sodium voltage-gated channel alpha subunit 8 | Voltage-gated sodium channel | Benign familial infantile seizures or EIEE | High levels of phenytoin or carbamazepine; amitriptyline, nilvadipine, carvedilol | Based on one study for one mutation in SCN8A |
SLC2A1 | Solute carrier family 2 member 1 | Transporter | Idiopathic generalized epilepsy | Ketogenic diet | Bypasses the pathophysiology to provide an alternative energy supply to the brain |
STXBP1 | Syntaxin-binding protein 1 | Membrane trafficking | EIEE | Levetiracetam, folinic acid, vigabatrin | Only anecdotal evidence |
TSC1 and 2 | TSC (tuberous sclerosis complex) subunits 1 and 2 | Unclassified; mutations lead to increased activity of mTOR | Tuberous sclerosis | Everolimus | A precision treatment with support from clinical trials and licensed for particular uses in tuberous sclerosis complex |