Gene Functional effect ASM ASM effect Reference
Known ASM modifying - worsening or improving- seizure frequency
KCNQ2
Dominant negative effect
Na channel blockers (CBZ, PHT)
Improvement
Numis et al 2014; Pisano et al 2015
SCN2A GOF Na channel blockers (CBZ, PHT) Improvement Wolff et al 2017
SCN8A Unknown Na channel blockers (CBZ, PHT) Improvement Larsen et al 2018
SCN1A
LOF
Na sodium channel blockers (CBZ, PHT, LTG)
Worsening
Guerrini et al 1998; de Lange et al 2018
SCN1A
LOF
VPA, CLB, STP
1st line treatment
Wirrel et al 2017; Wirrel, Nabbout 2018
PRRT2 haploinsufficiency CBZ 1st line treatment De Gusmao, Silveira-Moriyama 2019
HCN1 LOF Na sodium channel blockers (CBZ, PHT, LTG, LCM) Worsening Marini et al 2018
TSC1 & TSC2 Inactivating GVG Improving IS Curatolo et al 2018
POLG _ VPA Acute liver failure Hynynen et al 2014
HLA-B*15:02 allele CBZ Stevens-Johnson syndrome in Asian origin Chung et al 2004