Article

Recurrent <i>de novo</i> single point mutation on the gene encoding Na <sup>+</sup> /K <sup>+</sup> pump results in epilepsy

2021-08-28

Abstract excerpt

The etiology of epilepsy remains undefined in two-thirds of patients. Here, we identified a de novo mutation of ATP1A2 (c.2426 T>G, p.Leu809Arg), which encodes the α2 subunit of Na + /K + -ATPase, from a family with idiopathic epilepsy. This mutation caused seizures in the study patients. We generated the point mutation mouse model Atp1a2 L809R , which recapitulated the epilepsy observed in the study patient...

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Literature Corpus work: ee73e5e9-fa20-5522-b12a-bc8238e13be5
DOI: 10.1101/2021.08.26.457802

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