|
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 |