OnlineIMD
GABA transporter deficiency
Synonym(s)
Myoclonic-atonic epilepsy
Type
Disease
External link(s)
IEMbase
Gene
SLC6A1
/ Solute Carrier Family 6 Member 1
3p25.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Gamma-aminobutyric acid plasma membrane transporter
Disease group(s)
1.11 Disorders of amino acid transport