Ontology highlight
ABSTRACT:
SUBMITTER: Kovermann P
PROVIDER: S-EPMC5654970 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Scientific reports 20171024 1
SLC1A3 encodes the glial glutamate transporter hEAAT1, which removes glutamate from the synaptic cleft via stoichiometrically coupled Na<sup>+</sup>-K<sup>+</sup>-H<sup>+</sup>-glutamate transport. In a young man with migraine with aura including hemiplegia, we identified a novel SLC1A3 mutation that predicts the substitution of a conserved threonine by proline at position 387 (T387P) in hEAAT1. To evaluate the functional effects of the novel variant, we expressed the wildtype or mutant hEAAT1 i ...[more]