STXBP1 is essential for neurotransmitter release, the key mechanism by which neurons communicate with one another. STXBP1 is part of the SNARE complex, which also includes other proteins such as syntaxin-1.

Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. [5] . This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor.

Feb 1, 2021 · Individuals with STXBP1 -related disorders experience a broad range of symptoms including early-onset seizures, developmental delays, intellectual disability, muscular hypotonia, spasticity and ataxia. Affected individuals may also exhibit some …

All children with an STXBP1-related disorder have a pathogenic variant (“mutation”) in the gene STXBP1, which encodes the instructions to make a protein in the brain that is essential to how brain cells communicate with one another.

STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Explore symptoms, inheritance, genetics of this condition.

Dec 1, 2016 · STXBP1 encephalopathy with epilepsy is characterized by early-onset developmental delay, intellectual disability or cognitive dysfunction, and epilepsy. The median age of onset of seizures is six weeks (range: 1 day to 13 years).

Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous mutations in the STXBP1 gene include missense, nonsense, frameshift, and splice ...

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.

Mar 30, 2025 · STXBP1 (Syntaxin Binding Protein 1) is a Protein Coding gene. Diseases associated with STXBP1 include Developmental And Epileptic Encephalopathy 4 and Infantile Epilepsy Syndrome. Among its related pathways are Neurotransmitter release cycle and Integration of energy metabolism.

This review focuses on the current understanding of the phenotypic spectrum of STXBP1-linked disorders, as well as discusses disease mechanisms in the context of the numerous pathways in which STXBP1 functions in the brain.