article_metadata: Haiping Wang Xiuli Chen Zhanli Liu Chen Chen Xin Liu Mingwei Huang Zhuying Zhou
article_metadata: 10.3389/fneur.2023.1146875
article_metadata: Front Neurol
article_metadata: 2023 Mar 28;14:1146875.
article_metadata: ohtahara syndrome rt-pcr stxbp1-related disorder epilepsy functional study genotype-phenotype relationship intron retention splice variant
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37056358/
article_metadata: Case Reports
article_metadata: PMC10086123
article_metadata: 37056358
article_metadata: Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders
article_metadata: 2023