ArticleProceedings of the National Academy of Sciences of the United States of America2009
Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.
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Who cites it
88 citing papers in PubMed, 151 citations in OpenAlex.
- A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.Orphanet journal of rare diseases · 2017Trial
- Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.Orphanet journal of rare diseases · 2026Review
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- CRISPR-based prime editing improves therapeutic outcomes for childhood alternating hemiplegia.Precision clinical medicine · 2025Article
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- Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.Neurobiology of disease · 2025Article
- Small molecule ion channel agonist/antagonist screen reveals seizure suppression via glial Irk2 activation in a Drosophila model of Dup15q syndrome.Neurobiology of disease · 2025Article
- The impact of dynamic reversal potential on the evolution of action potential attributes during spike trains.Frontiers in computational neuroscience · 2025Article
- Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.Neurobiology of disease · 2024Article
- Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase:eNeuro · 2024Article
- The Na+/K+-ATPase generically enables deterministic bursting in class I neurons by shearing the spike-onset bifurcation structure.PLoS computational biology · 2024Article
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.Rambam Maimonides medical journal · 2024Review
- ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.Disease models & mechanisms · 2024Article
- Sensational site: the sodium pump ouabain-binding site and its ligands.American journal of physiology. Cell physiology · 2024Review
- Article
- The zebrafish mutanteLife · 2023Article
- NaBiomedicines · 2023Review
- The role ofFrontiers in cellular neuroscience · 2023Review
- NaInternational journal of molecular sciences · 2022Article
- The role of NaCNS neuroscience & therapeutics · 2022Review
28 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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) which renders the normally expressed Na(+),K(+)-ATPase alpha3 isoform inactive. Total Na(+),K(+)-ATPase activity was reduced by 42% in Myk/+ brain. The epilepsy in Myk/+ mice and in vitro hyperexcitability could be prevented by delivery of additional copies of wild-type Na(+),K(+)-ATPase alpha3 by transgenesis, which also rescued Na(+),K(+)-ATPase activity. Our findings reveal the functional significance of the Na(+),K(+)-ATPase alpha3 isoform in the control of epileptiform activity and seizure behavior.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.