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Article

Late-onset episodic ataxia associated with SLC1A3 mutation.

Journal of human genetics - 1 Mar 2017

Choi Kwang-Dong, Jen Joanna C, Choi Seo Young, Shin Jin-Hong, Kim Hyang-Sook, Kim Hyo-Jung, Kim Ji-Soo, Choi Jae-Hwan

Abstract excerpt

Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. EAAT1 regulates the extent and durations of glutamate-mediated signal by the clearance of glutamate after synaptic release. In addition, EAAT1 also has an anion channel activity that prevents additional glutamate release. We identified a missense mutation in SLC1A3...

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Identifiers

PMID: 27829685
DOI: 10.1038/jhg.2016.137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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