NeurosciencebioRxivPreprint
Recurrent de novo single point mutation on the gene encoding Na+ /K+ pump results in epilepsy
Hongmin Li, Wenbao Hu, Chun‐Gu Hong…·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.
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