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

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 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 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 -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 -related disorders. Finally, we will explore current therapies for disorders, including an overview of treatment goals for -related disorders, a discussion of the current evidence for therapies, and future directions of personalized medications for -related disorders.