SLC12A5 and juvenile myoclonic epilepsy: Indeed, autosomal recessive inheritance of compound heterozygous pathogenic loss-of-function variants in the solute carrier family 12-member 5 (SLC12A5) gene is associated with the development of idiopathic generalized epilepsy, focal refractory epilepsy, and early infantile epileptic encephalopathy, with these patients also being diagnosed with intellectual disability, ASD as well as pharmacoresistance (Kahle et al., 2014b; Stödberg et al., 2015; Saitsu et al., 2016; Duy et al., 2019; Fukuda and Watanabe, 2019; Jarvela et al., 2024).