Table 1.

Epilepsy in common neurocutaneous disorders.

Disorder	Gene mutation	Abnormal protein product	Epilepsy frequency	Most common seizure types	Molecular/cellular mechanism of epilepsy	Mechanism-specific therapy?
Tuberous sclerosis complex (TSC)	TSC1 or TSC2	Hamartin or tuberin	70–90%	–Focal onset, may generalize –Infantile spasms	–mTOR overactivation –Cortical dysgenesis and tubers –K channels –GABA	–Vigabatrin –mTOR inhibitors
Neurofibromatosis (NF) type 1	NF1	Neurofibromin	6–10%	–Focal onset, may generalize	–Ras overactivation –Cortical malformations and dysgenesis –Neurofibromin role in cortical development	–Ras inhibitors
Sturge–Weber syndrome (SWS)	GNAQ	Gαq (GTPase)	70–90%	–Focal onset, may generalize, especially in clusters –Status epilepticus	–Abnormal blood vessel development –Cerebral calcifications –Neuronal loss –Astrogliosis –Cortical dysgenesis	–ASDs –ASA

TSC, tuberous sclerosis complex; NF, neurofibromatosis; GNAQ, gene for guanine nucleotide-binding protein (G protein), subunit alpha, q polypeptide; Gαq, guanine nucleotide-binding protein (G protein), subunit alpha, q polypeptide; GTP, guanosine-5′-triphosphate; GABA, gamma-aminobutyric acid; mTOR, mechanistic target of rapamycin; Ras, rat sarcoma; ASD, antiseizure drug; ASA, acetyl salicylic acid (aspirin).