Associated Papers
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
Sousa AA et al.
Cell, 2025
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.
Terrey M et al.
Neurobiology of Disease, 2025
Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.
Hawkins NA et al.
Neurobiology of Disease, 2024
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
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D et al.
European Journal of Pediatrics, 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
Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.
Hunanyan AS et al.
Human Gene Therapy, 2021
Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.
Ikeda K et al.
Plos One, 2021
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.
Wang W et al.
Frontiers in Cell and Developmental Biology, 2021
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X et al.
Clinical Genetics, 2019
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
Allocco AA et al.
Frontiers in Cellular Neuroscience, 2019
Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.
Hunanyan AS et al.
Epilepsia, 2018
Diagnosis and Treatment of Alternating Hemiplegia of Childhood.
Masoud M et al.
Current Treatment Options in Neurology, 2017
Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.
Holm TH et al.
Scientific Reports, 2016
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.
Kirshenbaum GS et al.
Journal of Neurogenetics, 2016
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.
Kirshenbaum GS et al.
Neurogenetics, 2016
Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.
Holm TH et al.
Frontiers in Physiology, 2016
Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.
Kirshenbaum GS et al.
Behavioral Neuroscience, 2015
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E et al.
Orphanet Journal of Rare Diseases, 2015
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL et al.
The Lancet. Neurology, 2014
Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.
Kaneko M et al.
Nature Genetics, 2014
Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
Hoei-Hansen CE et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.
Doğanli C et al.
Neuroscience and Biobehavioral Reviews, 2013
Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice.
Ikeda K et al.
The Journal of Physiology, 2013
α3Na+/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish.
Doğanli C et al.
The Journal of Biological Chemistry, 2013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A et al.
Plos One, 2013
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.
Kirshenbaum GS et al.
Plos One, 2013
Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.
Bøttger P et al.
Neuroscience and Biobehavioral Reviews, 2012
Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
Clapcote SJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009