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High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, <i>SLC6A1</i>

2025-11-07

Abstract excerpt

Pathogenic variants in SLC6A1 , which encodes GABA Transporter 1 (GAT-1), are associated with developmental delay, autism, epilepsy (e.g., epilepsy with myoclonic astatic seizures [EMAS]), and possibly schizophrenia. Functional assays to establish pathogenicity of human variants is a key limiting factor in the clinical interpretation of genetic findings. Methods based on radioactive [3H]-GABA uptake come with sig...

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Literature Corpus work
00cd3eed-50f4-56b1-a5fa-b21169d2b939
DOI
10.1101/2025.11.06.687003
Open publication

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