|
KMID : 1151120210290020068
|
|
Annals of Child Neurology
2021 Volume.29 No. 2 p.68 ~ p.74
|
|
|
Clinical and Genetic Spectrum of STXBP1 Encephalopathy in the Korean Pediatric Population
|
|
Kim Woo-Joong
Shim Young-Kyu
Ko Young-Jun
Kim Soo-Yeon
Kim Hun-Min
Lim Byung-Chan
Hwang Hee
Choi Ji-Eun
Kim Ki-Joong
Chae Jong-Hee
|
|
|
Abstract
|
|
|
Purpose: Syntaxin-binding protein 1 (STXBP1) mutations are known to result in various phenotypes including Ohtahara syndrome, West syndrome, and autism, collectively referred as STXBP1 encephalopathy. This study aimed to expand our understanding of the genotype-phenotype spectrum of STXBP1 encephalopathy in the Korean pediatric population.
Methods: Ten patients with STXBP1 mutations were enrolled for a retrospective chart review. The patients were investigated for developmental delay of unknown cause and epileptic encephalopathy at a single center.
Results: Ten different STXBP1 mutations were identified. Three mutations had not previously been reported (c.1212A>C, c.1497C>G, c1030-2A>G). Eight patients showed early-onset epileptic encephalopathy as the main feature, while the main feature was developmental delay and non-epileptic movements in two patients. The most commonly seen electroencephalographic change was focal/multifocal epileptiform discharges, which were observed in nine patients (90%). The classical burst-suppression pattern was observed in four patients, two of which evolved to show hypsarrthymia. All patients with seizures had drug-resistant epilepsy. The patients suffered from severe developmental delay regardless of seizure frequency. Six patients showed an associated movement disorder or behavioral disorder.
Conclusion: This study describes the STXBP1 encephalopathy patients in Korean pediatric population, further expanding knowledge of its phenotype spectrum.
|
|
|
KEYWORD
|
|
|
STXBP1 protein, human, Pediatrics, Epilepsy, Developmental disabilities
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|