Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China

• Main Authors: Miriam Kessi (Author), Baiyu Chen (Author), Li-Dan Shan (Author), Ying Wang (Author), Lifen Yang (Author), Fei Yin (Author), Fang He (Author), Jing Peng (Author), Guoli Wang (Author)
• Format: Book
• Published: BMC, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China. Methods The clinical data and genetic results of the children diagnosed with STXBP1-related...