Associated Papers
Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review.
Cordani R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3tm1Ling/+ and Atp1a3 +/D801Y.
Liu YB et al.
Eneuro, 2024
Na,K-ATPase Expression Can Be Limited Post-Transcriptionally: A Test of the Role of the Beta Subunit, and a Review of Evidence.
Arystarkhova E et al.
International Journal of Molecular Sciences, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M et al.
Neurology. Genetics, 2024
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Arystarkhova E et al.
The Journal of Biological Chemistry, 2023
The role of ATP1A3 gene in epilepsy: We need to know more.
Zou S et al.
Frontiers in Cellular Neuroscience, 2023
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Smith RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
De novo ATP1A3 variants cause polymicrogyria.
Miyatake S et al.
Science Advances, 2021
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E et al.
Neurobiology of Disease, 2019
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R et al.
Annals of Neurology, 2019
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.
Arystarkhova E et al.
The Journal of Biological Chemistry, 0
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