Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

doi:10.1073/pnas.0904817106

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Article

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

Proceedings of the National Academy of Sciences of the United States of America - 18 Aug 2009

Clapcote Steven J, Duffy Steven, Xie Gang, Kirshenbaum Greer, Bechard Allison R, Rodacker Schack Vivien, Petersen Janne, Sinai Laleh, Saab Bechara J, Lerch Jason P, Minassian Berge A, Ackerley Cameron A, Sled John G, Cortez Miguel A, Henderson Jeffrey T, Vilsen Bente, Roder John C

Abstract excerpt

In a mouse mutagenesis screen, we isolated a mutant, Myshkin (Myk), with autosomal dominant complex partial and secondarily generalized seizures, a greatly reduced threshold for hippocampal seizures in vitro, posttetanic hyperexcitability of the CA3-CA1 hippocampal pathway, and neuronal degeneration in the hippocampus. Positional cloning and functional analysis revealed that Myk/+ mice carry a mutation (I810N)...

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PMID: 19666602
DOI: 10.1073/pnas.0904817106
PMCID: PMC2729024

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