Late-onset episodic ataxia associated with SLC1A3 mutation
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DOI: 10.1038/jhg.2016.137
Abstract: 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… read more here.
Keywords: late onset; slc1a3 mutation; episodic ataxia; onset episodic ... See more keywords