Most genes causing PMD and EAs encode for proteins involved in synaptic vesicle fusion (PRRT2, PNKD, TBC1D24), post-synaptic intracellular signaling (ADCY5), brain energy metabolism (DLAT, PDHA1, PDHX, ECSH1, HIBCH), neurotransmitter synthesis (GCH1), ion channels (SCN8A, KCNMA1, ATP1A3, KCNA1, CACNA1A, CACNB4, SCN2A) or solute carriers (SLC2A1, SLC16A2, SLC1A3) [21]. This evidence concerns the gene SLC2A1 and Pelizeaus-Merzbacher spectrum disorder.