A heterozygous SLC1A3 missense mutation predicting arginine replacement of a proline residue in transmembrane domain 5 of hEAAT1 (P290R) was identified in a 10-year-old boy, who had suffered from episodes of ataxia, epilepsy and hemiplegia throughout his childhood (Jen et al., 2005). The gene discussed is SLC1A3; the disease is epilepsy.