Novel treatment strategies developed from pathophysiological
knowledge |
a. Substitutive therapies |
SLC2A1 (GLUT1) |
Ketogenic diet |
Klepper et al 2020 |
|
|
ALDHTA1 |
Pyridoxin |
Plecko B 2013 |
|
|
PNPO |
pyridoxalphosphate |
Coughlin et al
2021 |
|
|
TPP1 (CLN2) |
cerliponase alfa |
Schultz et al
2018 |
|
|
FOLR1 |
Folinic acid |
Pope et al 2019 |
|
|
BTD |
Biotinidase |
Wolf 2012 |
|
b. Therapies that modify cell-signalling pathways |
mTOR
complex genes |
Rapamycin |
French et al 2016, Krueger et al
2016 |
|
c. Function-based therapies |
KCNQ2 |
Gabapentin,
Retigabine |
Soldovieri et al 2020, Miceli et al 2018 |
|
|
KCNT1 |
Quinidine |
Milligan et al 2014 |
|
|
GRIN1A |
Memantine |
Pierson et al 2014 |
|
|
GABRB3 |
Vinpocetina |
Billakota et al 2019 |
|
|
EPM2A; EPM2B |
Metformin |
Bisulli et al 2019 |
|
|
PCDH19 |
Ganaxolone /neurosteroids |
Pieribone et al 2007;
Kerrigan et al 2000 |
|
|
GADI |
Vigabatrin & Ketogenic diet |
Chatron et al
2020 |