Table 2.

Precision medicine in epilepsy.

Mutated Gene	Encoded Protein	Epilepsy Syndrome(s)	Type of Mutation	Potential Therapy
GRIN2A	NMDAR subunit	Various	Gain-of-function	NMDA receptor antagonists (memantine) [86]
KCNT1	Sodium-activated potassium channel	Nocturnal frontal lobe epilepsy EIMFS	Gain-of-function	Potassium channel openers (quinidine) [89]
KCNQ2	Voltage-gated potassium channel	Early-onset epileptic encephalopathy	Loss-of-function	Potassium channel openers (retigabine) [94]
SCN1A	Sodium channel Nav1.1	Dravet syndrome	Loss-of-function	Avoid sodium channel blockers [72]
SCN2A	Sodium channel Nav1.2	Epileptic encephalopathy EIMFS	Gain-of-function	Sodium channel blockers [95]
SCN8A	Sodium channel Nav1.6	Epileptic encephalopathy	Gain-of-function	Sodium channel blockers [96]
TSC1, TSC2	Hamartin, tuberin	Tuberous sclerosis complex	Loss-of-function	mTOR inhibitors (everolimus) [97]
SLC2A1	GLUT1	GLUT1-DS	Loss-of-function	Ketogenic diet [98]