A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.
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J Biol Chem. 2021 Dec;297(6):101355. doi: 10.1016/j.jbc.2021.101355. Epub 2021 Oct 28.
J Biol Chem. 2021.
PMID: 34717959
Free PMC article.