Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population

• Main Authors: Woo Joong Kim (Author), Young Kyu Shim (Author), Young Jun Ko (Author), Soo Yeon Kim (Author), Hunmin Kim (Author), Byung Chan Lim (Author), Hee Hwang (Author), Jieun Choi (Author), Ki Joong Kim (Author), Jong-Hee Chae (Author)
• Format: Book
• Published: Korean Child Neurology Society, 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 encephalop...