Table 5. Treatable epilepsies in pediatric epilepsy.

Type of epilepsy	Gene	Treatment
Cerebral folate deficiency	Folate receptor defect or folate receptor antibody	Folinic acid or methylfolate
Pyridoxine-responsive epilepsy	ALDH7A1/alpha aminoadipic semialdehyde	Pyridoxine and folinic acid
Pyridoxal 5′-phosphate-dependent epilepsy	PNP0/ PNP0 enzyme	Pyridoxal 5′-phosphate
Glucose transporter defect	SLC2A1/glucose transporter protein type 1	Ketogenic diet
Biotinidase deficiency	BTD/biotinidase	Biotin
Biotin-thiamine-responsive basal ganglia disease	SLC19A3/thiamine transporter protein	Thiamine and biotin
Serine synthesis defects	PHGDH, PSPH, PSAT genes	Oral L-serine
Creatine deficiency syndromes	SLC6A8/ GAMT	Dietary arginine restriction and creatine- monohydrate and L ornithine supplementation
Riboflavin transporter deficiency	SLC52A2/RFVT2	Riboflavin
Molybdenum cofactor deficiency A	MOCS1 and MOCS2	Purified cyclic pyranopterin monophosphate
Tuberous sclerosis	TSC1 OR TSC2/hamartin	Vigabatrin mammalian target of rapamycin (mTOR) inhibitors: rapamycin, serolimus, and everolimus
POLG gene disorders	POLG genes

This table provides the growing list of epilepsy for which we have specific treatment that addresses the underlying abnormality causing the seizures. Some of the treatments do not fully reverse the effects of the underlying disorder as in pyridoxine-responsive epilepsy. Many of the metabolic diseases treated by dietary changes are not listed in this table. Most of these are found with newborn testing.