Article
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
Archives of neurology - 1 Jan 2009
de Vries Boukje, Mamsa Hafsa, Stam Anine H, Wan Jijun, Bakker Stef L M, Vanmolkot Kaate R J, Haan Joost, Terwindt Gisela M, Boon Elles M J, Howard Bruce D, Frants Rune R, Baloh Robert W, Ferrari Michel D, Jen Joanna C, van den Maagdenberg Arn M J M
Abstract excerpt
BACKGROUND: Episodic ataxia (EA) is variably associated with additional neurologic symptoms. At least 4 genes have been implicated. Recently, a mutation in the SLC1A3 gene encoding the glutamate transporter EAAT1 was identified in a patient with severe episodic and progressive ataxia, seizures, alternating hemiplegia, and migraine headache. The mutant EAAT1 showed severely reduced uptake of glutamate. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.