STXBP1 encephalopathy is associated with awake bruxism.
Epilepsy Behav
; 92: 121-124, 2019 03.
Article
en En
| MEDLINE
| ID: mdl-30654231
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Espasmos Infantiles
/
Vigilia
/
Bruxismo
/
Proteínas Munc18
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Child
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Epilepsy Behav
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
Año:
2019
Tipo del documento:
Article