Moreover, mutations in the mIndy coding region and loss of mINDY function in humans are linked to early infantile epileptic encephalopathy and Kohlschütter−Tönz syndrome, which are autosomal recessive diseases characterized by epilepsy, psychomotor delay, intellectual disability, and moderate gastrointestinal and pulmonary defects (Thevenon et al., 2014; Hardies et al., 2015; Klotz et al., 2016; Brown et al., 2021). Here, SLC13A5 is linked to epilepsy.