Recurrent de novo single point mutation on the gene encoding Na+ /K+ pump results in epilepsy
Hongmin Li, Wenbao Hu, Chun‐Gu Hong, Ran Duan, Menglu Chen, Jia Cao, Zhen‐Xing Wang, Chun‐Yuan Chen, Fei Yin, Zhonghua Hu, Jia‐Da Li, Li-Hong Zhong, Hui Xie, Zhengzhao Liu
The paper identifies a de novo mutation in ATP1A2 causing epilepsy in a family and creates a mouse model to study its effects on seizures and cognitive function.
bioRxiv · Aug 26, 2021 · PreprintNeuroscience