Kcnc3-flox 基因敲除小鼠

1. Li, Shao, Shang, Dandan, Du, Yanjiao, Li, Yan, Liu, Ruihua. 2023. Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene. In BMC neurology, 23, 246. doi:10.1186/s12883-023-03304-5. https://pubmed.ncbi.nlm.nih.gov/37365508/

2. Bernhard, Felix P, Schütte, Sven, Heidenblut, Moritz, Rinné, Susanne, Decher, Niels. 2024. A novel KCNC3 gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo. In Frontiers in cellular neuroscience, 18, 1441257. doi:10.3389/fncel.2024.1441257. https://pubmed.ncbi.nlm.nih.gov/39416683/

3. Pomarino, David, Thren, Johanna Ronja, Thren, Anneke, Rostasy, Kevin, Schoenfeldt, Jan. 2021. Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene. In Global medical genetics, 9, 51-53. doi:10.1055/s-0041-1736483. https://pubmed.ncbi.nlm.nih.gov/35169784/

4. Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Brice, Alexis, Durr, Alexandra. 2023. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. In American journal of human genetics, 110, 1098-1109. doi:10.1016/j.ajhg.2023.05.009. https://pubmed.ncbi.nlm.nih.gov/37301203/

5. Xu, Pin, Shimomura, Kazuhiro, Lee, Changhoon, Kandel, Eric R, Takahashi, Joseph S. 2022. A missense mutation in Kcnc3 causes hippocampal learning deficits in mice. In Proceedings of the National Academy of Sciences of the United States of America, 119, e2204901119. doi:10.1073/pnas.2204901119. https://pubmed.ncbi.nlm.nih.gov/35881790/