Article

4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers

2024-11-08

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Introduction</h4> Pathogenic mutations in STXBP1 and SLC6A1 can cause developmental delay and epilepsy. 4-phenylbutyrate (4PB), a drug used for urea cycle disorders, rescues dysfunction in pre-clinical models for both genes, suggesting an opportunity for drug repurposing. <h4>Methods</h4> We conducted a single-treatment group, multiple-dose, open-label study of 4PB (as glycerol phenylbutyr...

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Literature Corpus work: 36f932c7-3731-5a04-bace-cf8ff021cd6e
DOI: 10.1101/2024.11.06.24316676

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