Article

Haploinsufficiency underlies the neurodevelopmental consequences of<i>SLC6A1</i>/GAT-1 variants

2022-03-12

Abstract excerpt

Heterozygous variants in the GAT-1 GABA transporter encoded by SLC6A1 are associated with seizures, developmental delay, and autism. The majority of affected individuals carry missense variants, many of which are recurrent germline de novo mutations, raising the possibility of gain-of-function effects. To understand the functional consequences, we performed an in vitro GABA uptake assay for 213 unique variants, in...

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Literature Corpus work: 27fc8f20-1ca5-5b09-8948-3760ff07bbcc
DOI: 10.1101/2022.03.09.22271804

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