Article
Recurrent de novo single point variant on the gene encoding Na+/K+ pump results in epilepsy.
Progress in neurobiology - 1 Sept 2022
Duan Ran, Li Hong-Ming, Hu Wen-Bao, Hong Chun-Gu, Chen Meng-Lu, Cao Jia, Wang Zhen-Xing, Chen Chun-Yuan, Yin Fei, Hu Zhong-Hua, Li Jia-Da, Xie Hui, Liu Zheng-Zhao
Abstract excerpt
The etiology of epilepsy remains undefined in two-thirds of patients. Here, we identified a de novo variant of ATP1A2 (c.2426 T > G, p.Leu809Arg), which encodes the α2 subunit of Na+/K+-ATPase, from a family with idiopathic epilepsy. This variant caused epilepsy with hemiplegic migraine in the study patients. We generated the point variant mouse model Atp1a2L809R, which recapitulated the epilepsy observed in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.