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Article

Patient‐derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice

28 Jul 2023

Abstract excerpt

Abstract The solute carrier family 6 member 1 ( SLC6A1 ) gene encodes GAT‐1, a γ‐aminobutyric acid transporter expressed on astrocytes and inhibitory neurons. Mutations in SLC6A1 are associated with epilepsy and developmental disorders, including motor and social impairments, but variant‐specific animal models are needed to elucidate mechanisms. Here, we report electrocorticographic (ECoG) recordings and clinical...

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PMID: 37501613
DOI: 10.1111/epi.17731

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