Mutation in the <i>STXBP1</i> Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

• Main Authors: Kanako Takeda (Author), Yusaku Miyamoto (Author), Hisako Yamamoto (Author), Toshiyuki Iwasaki (Author), Noriko Sumitomo (Author), Eri Takeshita (Author), Atsushi Ishii (Author), Shinichi Hirose (Author), Naoki Shimizu (Author)
• Format: Book
• Published: MDPI AG, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Syntaxin-binding protein1 (<i>STXBP1</i>) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. <i>STXBP1</i> pathogenic variant...