. Author manuscript; available in PMC: 2021 Dec 1.

Published in final edited form as: Curr Opin Genet Dev. 2020 May 15;65:1–7. doi: 10.1016/j.gde.2020.04.004

Table 1.

Brain tissue localized/enriched somatic variants in epilepsy

Epilepsy-associated disorder	Gene(s)	References
brain arteriovenous malformation	BRAF, KRAS, MAP2K1, NRAS	[17–19]
cerebral cavernous malformation	CCM2^, KRIT^, PDCD10^*	[20–22]
focal cortical dysplasia type Ia/mild malformation of cortical development	SLC35A2	[23–25]
focal cortical dysplasia type IIb/hemimegalencephaly	ATK1, AKT3, DEPDC5^, MTOR, PIK3CA, RHEB, TSC1^, TSC2^*	[24,26–32]
hypothalamic hamartoma	DYNC2H1^, GLI3, OFD1, PRKACA, PTPN11*	[33–36]
non-lesional epilepsy (radiographically non-lesional)	SLC35A2	[23–25]
Sturge-Weber syndrome/leptomeningeal angiomatosis	GNAQ	[37–39]

two hit model (somatic and germline variants may be required for phenotype)