STXBP1 encephalopathy is associated with awake bruxism.

Abstract

Heterozygous mutations in syntaxin-binding protein 1 (STXBP1) gene are associated with early infantile epileptic encephalopathy 4 (EIEE4). This condition is characterized by epilepsy, developmental delay (DD), and various movement disorders. Herein, we will report 5 unrelated patients with different de novo mutations in STXBP1. In addition, we conducted an online survey through Facebook to identify the incidence of bruxism (BRX) in these patients. Four out of 5 patients (80%) presented with awake BRX (A-BRX). Bruxism was also reported in 81.4% (57/70) of the patients with STXBP1 encephalopathy through the online questionnaire. No consistent correlation was identified between the type of mutation and development of movement disorders or BRX. This is the first study to demonstrate A-BRX in patients with STXBP1 mutation. Given the role of STXBP1 in exocytosis of neurotransmitters and other manifestations of dopamine dysregulation in patients with STXBP1-EIEE4, we suggest that in patients with STXBP1 encephalopathy, A-BRX might be the result of the involvement of dopaminergic circuits.

• Authors: Arezoo Rezazadeh, Mohammed Uddin, O Carter Snead 3rd, Victor Lira, Alexandra Silberberg, Shelly Weiss, Elizabeth J Donner, Maria Zak, Laura Bradbury, Stephen W Scherer, Alfonso Fasano, Danielle M Andrade
• Journal: Epilepsy & behavior : E&B (Epilepsy Behav) Vol. 92 Pg. 121-124 (03 2019) ISSN: 1525-5069 [Electronic] United States
• PMID: 30654231 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2018 Elsevier Inc. All rights reserved.

Chemical References

• Munc18 Proteins
• STXBP1 protein, human

Topics

• Adult
• Bruxism (complications, diagnostic imaging, genetics)
• Child
• Humans
• Male
• Middle Aged
• Munc18 Proteins (genetics)
• Mutation (genetics)
• Spasms, Infantile (complications, diagnostic imaging, genetics)
• Wakefulness (genetics)