Related Experiment Video
Updated: Jan 30, 2026
08:47
The Hypoxic Ischemic Encephalopathy Model of Perinatal Ischemia
Published on: November 19, 2008
36.3K
STXBP1 encephalopathy is associated with awake bruxism
Arezoo Rezazadeh1, Mohammed Uddin2, O Carter Snead3
1Krembil Neurosciences Epilepsy Genetics Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Epilepsy & Behavior : E&B
|January 18, 2019
Summary
Syntaxin-binding protein 1 (STXBP1) gene mutations cause early infantile epileptic encephalopathy. This study found a high incidence of awake bruxism (A-BRX) in affected children, potentially linked to dopamine pathway involvement.
Area of Science:
- Genetics
- Neuroscience
- Pediatrics
Background:
- Heterozygous mutations in the STXBP1 gene are linked to early infantile epileptic encephalopathy 4 (EIEE4), a condition featuring epilepsy, developmental delay, and movement disorders.
- Bruxism (BRX), or teeth grinding, is a recognized manifestation in some neurological conditions, but its specific association with STXBP1-related disorders is not well-established.
Purpose of the Study:
- To report on de novo STXBP1 mutations in five unrelated patients with EIEE4.
- To investigate the incidence of bruxism, particularly awake bruxism (A-BRX), in patients with STXBP1 mutations.
- To explore potential correlations between STXBP1 mutations, movement disorders, and bruxism.
Main Methods:
- Clinical characterization of five patients with de novo STXBP1 mutations.
- An online survey was conducted via Facebook to gather data on bruxism incidence in STXBP1 encephalopathy patients.
- Analysis of mutation types and their correlation with clinical phenotypes, including movement disorders and bruxism.
Main Results:
- Four out of five (80%) reported patients presented with awake bruxism (A-BRX).
- The online survey indicated bruxism in 81.4% (57/70) of patients with STXBP1 encephalopathy.
- No clear correlation was found between specific STXBP1 mutation types and the development of movement disorders or bruxism.
Conclusions:
- This study is the first to report awake bruxism (A-BRX) in individuals with STXBP1 mutations.
- The high prevalence of A-BRX suggests a potential link to the dopaminergic system, given STXBP1's role in neurotransmitter exocytosis and observed dopamine dysregulation in EIEE4.
- Awake bruxism in STXBP1 encephalopathy may arise from disruptions in dopaminergic circuitry.
