PMID 9623887 1998 Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.
PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
PMID 12451126 2002 Number, density, and surface/cytoplasmic distribution of GABA transporters at presynaptic structures of knock-in mice carrying GABA transporter subtype 1-green fluorescent protein fusions.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
rs1553690452 in
SLC6A1 gene and
Muscle hypotonia
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 12451126 2002 Number, density, and surface/cytoplasmic distribution of GABA transporters at presynaptic structures of knock-in mice carrying GABA transporter subtype 1-green fluorescent protein fusions.
PMID 9623887 1998 Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.
PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
PMID 26716362 2016 Mosaic mutations in early-onset genetic diseases.