Mutations in this gene cause early infantile epileptic encephalopathy 39 (EIEE39), symptomized by global hypomyelination of the central nervous system, refractory seizures, and neurodevelopmental impairment.

[14][15] Mutations in the SLC25A12 gene cause early infantile epileptic encephalopathy 39(EIEE39), characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis.

[10] In Brodmann's Area (BA) 46 of the prefrontal cortex, SLC25A12 is expressed more strongly in the neurons of autistic people.

SLC25A12 overexpression may modify neuronal networks in certain subregions of the brain during the fetal development of autistic patients.

[19] This article incorporates text from the United States National Library of Medicine, which is in the public domain.