Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC.
Clapcote SJ, et al. Among authors: roder jc.
Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14085-90. doi: 10.1073/pnas.0904817106. Epub 2009 Aug 3.
Proc Natl Acad Sci U S A. 2009.
PMID: 19666602
Free PMC article.