Type of treatment Gene Treatment Reference
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