1. Abramov, Debra, Guiberson, Noah Guy Lewis, Burré, Jacqueline. 2020. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies. In Journal of neurochemistry, 157, 165-178. doi:10.1111/jnc.15120. https://pubmed.ncbi.nlm.nih.gov/32643187/
2. Freibauer, Alexander, Wohlleben, Mikayla, Boelman, Cyrus. 2023. STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions. In Genes, 14, . doi:10.3390/genes14122179. https://pubmed.ncbi.nlm.nih.gov/38137001/
3. Zhang, Wentao, Qu, Haizeng, Ma, Xiaoqing, Zhou, Fengge, Yang, Zhe. 2023. Identification of cuproptosis and immune-related gene prognostic signature in lung adenocarcinoma. In Frontiers in immunology, 14, 1179742. doi:10.3389/fimmu.2023.1179742. https://pubmed.ncbi.nlm.nih.gov/37622116/
4. Stamberger, Hannah, Weckhuysen, Sarah, De Jonghe, Peter. 2017. STXBP1 as a therapeutic target for epileptic encephalopathy. In Expert opinion on therapeutic targets, 21, 1027-1036. doi:10.1080/14728222.2017.1386175. https://pubmed.ncbi.nlm.nih.gov/28971703/
5. Ichise, Eisuke, Chiyonobu, Tomohiro, Ishikawa, Mitsuru, Okano, Hideyuki, Hirose, Shinichi. . Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. In Human molecular genetics, 30, 1337-1348. doi:10.1093/hmg/ddab113. https://pubmed.ncbi.nlm.nih.gov/33961044/
6. Wang, Tianyun, Guo, Hui, Xiong, Bo, Xia, Kun, Eichler, Evan E. 2016. De novo genic mutations among a Chinese autism spectrum disorder cohort. In Nature communications, 7, 13316. doi:10.1038/ncomms13316. https://pubmed.ncbi.nlm.nih.gov/27824329/
7. Pawar, Nikhil, Farid Mir, Fatima, Tahir, Saja, Kashyape, Pawan, Babiker, Mohamed O E. 2023. Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series. In Cureus, 15, e46239. doi:10.7759/cureus.46239. https://pubmed.ncbi.nlm.nih.gov/37908909/
8. Goss, James R, Prosser, Benjamin, Helbig, Ingo, Son Rigby, Charlene. 2024. STXBP1: fast-forward to a brighter future - a patient organization perspective. In Therapeutic advances in rare disease, 5, 26330040241257221. doi:10.1177/26330040241257221. https://pubmed.ncbi.nlm.nih.gov/38898886/
9. Marotta, Nicolas, Boland, Michael J, Prosser, Benjamin L. 2024. Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders. In Current problems in pediatric and adolescent health care, 54, 101576. doi:10.1016/j.cppeds.2024.101576. https://pubmed.ncbi.nlm.nih.gov/38472035/
10. Lindy, Amanda S, Stosser, Mary Beth, Butler, Elizabeth, Richard, Gabriele, McKnight, Dianalee A. 2018. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. In Epilepsia, 59, 1062-1071. doi:10.1111/epi.14074. https://pubmed.ncbi.nlm.nih.gov/29655203/
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