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Article

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.

Genes - 5 Dec 2023

Freibauer Alexander, Wohlleben Mikayla, Boelman Cyrus

Abstract excerpt

In recent years, the affordability and availability of genetic testing have led to its increased use in clinical care. The increased frequency of testing has led to STXBP1 variants being identified as one of the more common variants associated with neurological disorders. In this review, we aim to summarize the common clinical phenotypes associated with STXBP1 pathogenic variants, provide an overview of their...

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Identifiers

PMID: 38137001
DOI: 10.3390/genes14122179
PMCID: PMC10742812

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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