Article

4-phenylbutyrate restored GABA uptake and reduced seizures in <i>SLC6A1</i> variants-mediated disorders

2021-12-10

Abstract excerpt

We have previously studied the molecular mechanisms of solute carrier family 6 member 1 ( SLC6A1 ) associated with a continuum of neurodevelopmental disorders, including various epilepsy syndromes, autism, and intellectual disability. Based on functional assays of variants in a large cohort with heterogenous clinical phenotypes, we conclude that partial or complete loss of GABA uptake function in the mutant GAT-1...

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Literature Corpus work: a14d7256-d89a-510b-8d10-dea02fc24bce
DOI: 10.1101/2021.12.08.471799

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