1. Wu, M J, Hu, C H, Ma, J H, Liu, Z S, Sun, D. . [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review]. In Zhonghua er ke za zhi = Chinese journal of pediatrics, 59, 594-599. doi:10.3760/cma.j.cn112140-20201122-01047. https://pubmed.ncbi.nlm.nih.gov/34405643/
2. Haque, Absarul, Naseer, Muhammad Imran. . A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family. In Pakistan journal of medical sciences, 40, 782-784. doi:10.12669/pjms.40.4.8707. https://pubmed.ncbi.nlm.nih.gov/38545008/
3. Zbikowski, Arkadiusz, Kowalczyk, Tomasz, Kasparek, Petr, Cysewski, Dominik, Łukasiewicz, Kacper. 2024. Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations. In Mammalian genome : official journal of the International Mammalian Genome Society, , . doi:10.1007/s00335-024-10098-5. https://pubmed.ncbi.nlm.nih.gov/39738582/
4. Sánchez-Soler, M J, Serrano-Antón, A T, López-González, V, Guillén-Navarro, E. 2021. New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: Expanding the phenotype. In Neurologia, , . doi:10.1016/j.nrl.2020.11.009. https://pubmed.ncbi.nlm.nih.gov/33461828/
5. Sakaguchi, Yuri, Yoshihashi, Hiroshi, Uehara, Tomoko, Kosaki, Kenjiro, Takenouchi, Toshiki. 2020. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. In American journal of medical genetics. Part A, 185, 884-888. doi:10.1002/ajmg.a.62020. https://pubmed.ncbi.nlm.nih.gov/33369122/
6. Chou, I-Jun, Hou, Ju-Yin, Fan, Wen-Lang, Tsai, Meng-Han, Lin, Kuang-Lin. 2023. Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review. In Children (Basel, Switzerland), 10, . doi:10.3390/children10040621. https://pubmed.ncbi.nlm.nih.gov/37189870/
智鼠故事 
