SLC6A1

Gene product: solute carrier family 6 (neurotransmitter transporter, GABA), member 1.

Protein function: γ- Aminobutyric acid (GABA) transporter, which can remove GABA from the synaptic cleft [1].

Phenotype:Epilepsy With Myoclonic-Atonic Seizures (Doose Syndrome) (AD) [2].

Mutation database: ClinVar.

Clinical and basic research: PubMed (PMID: 25865495 (Am J Hum Genet. 2015); 29315614 (Epilepsia. 2018); 33241211 (Brain Commun. 2020)).

References:

1. Hirunsatit, R., et al., Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. Pharmacogenet Genomics, 2009. 19(1): p. 53-65.
2. Carvill, G.L., et al., Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet, 2015. 96(5): p. 808-15.