Faculty Opinions recommendation of Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.

Publisher Website
Google Scholar
Abstract
This paper reports a novel missense mutation in the gene SLC1A3 that can produce episodic ataxia and hemiplegic migraine. This gene encodes the glial glutamate transporter EAAT1, which is strongly expressed in the cerebellum. Evidence is presented that this mutation reduces the activity of the glutamate transporter, possibly by a dominant effect on protein levels, as the mutant transporter will form homo-multimers with the wild type protein. In vivo this would be expected to increase extracellular glutamate in the cerebellum, which might contribute to hyperexcitability.

This publication has 0 references indexed in Scilit: