NSF and Epileptic encephalopathy: Pathogenic variants in these genes are known to cause epileptic encephalopathy of early infantile onset.18, 19 Considering that NSF is involved in the intracellular vesicle transport and recycling of vesicles20 and the development of central nervous system malformation in the mutant Drosophila, the epileptic phenotype observed in the two reported patients is likely caused by dysregulation of synaptic neurotransmission.