OnlineIMD
Glutamate aspartate transporter deficiency
(EAAT1 deficiency)
Synonym(s)
Episodic ataxia type 6
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SLC1A3
/ Solute Carrier Family 1 Member 3
5p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glutamate/aspartate transporter
Disease group(s)
1.11 Disorders of amino acid transport