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STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions Freibauer, Alexander; Wohlleben, Mikayla; Boelman, Cyrus

Abstract

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 known natural history, and discuss current research into the genotype to phenotype correlation. We will also provide an overview of the suspected normal function of the STXBP1-encoded Munc18-1 protein, animal models, and experimental techniques that have been developed to study its function and use this information to try to explain the diverse phenotypes associated with STXBP1-related disorders. Finally, we will explore current therapies for STXBP1 disorders, including an overview of treatment goals for STXBP1-related disorders, a discussion of the current evidence for therapies, and future directions of personalized medications for STXBP1-related disorders.

Item Metadata

Title
STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions
Creator
Freibauer, Alexander; Wohlleben, Mikayla; Boelman, Cyrus
Contributor
Children's Hospital (Vancouver, B.C.)
Publisher
Multidisciplinary Digital Publishing Institute
Date Issued
2023-12-05
Description
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 known natural history, and discuss current research into the genotype to phenotype correlation. We will also provide an overview of the suspected normal function of the STXBP1-encoded Munc18-1 protein, animal models, and experimental techniques that have been developed to study its function and use this information to try to explain the diverse phenotypes associated with STXBP1-related disorders. Finally, we will explore current therapies for STXBP1 disorders, including an overview of treatment goals for STXBP1-related disorders, a discussion of the current evidence for therapies, and future directions of personalized medications for STXBP1-related disorders.
Subject
STXBP1; Munc18-1; epilepsy; genetics; developmental and epileptic encephalopathy; intellectual disability; SNARE protein
Genre
Article
Type
Text
Language
eng
Date Available
2024-11-12
Provider
Vancouver : University of British Columbia Library
Rights
CC BY 4.0
DOI
10.14288/1.0447259
URI
http://hdl.handle.net/2429/89653
Affiliation
Medicine, Faculty of; Other UBC
Citation
Genes 14 (12): 2179 (2023)
Publisher DOI
10.3390/genes14122179
Peer Review Status
Reviewed
Scholarly Level
Faculty; Researcher
Rights URI
https://creativecommons.org/licenses/by/4.0/
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CC BY 4.0