SLC6A1 and epilepsy with myoclonic atonic seizures: According to a recent study, whole-exome sequencing revealed four de novo pathogenic variations linked to myoclonic atonic epilepsy (loci E16X, G362R, L460R, W495X) (Table 1), and validated all four variants lead to pathogenic variations in GAT1 in HEK293T, mouse, and human astrocytes, resulting in reduced GABA uptake, by establishing mouse models, radioactive 3H-GABA uptake assays and other methods [103].