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episodic ataxia type 6

Summary
Definition
An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
Super Class
episodic ataxia
Disease Ontology
DOID:0050994
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6507 SLC1A3 solute carrier family 1 member 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P43003 Excitatory amino acid transporter 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026