Associated Papers
The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.
Lax DN et al.
Journal of the Neurological Sciences, 2021
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
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 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Stagnaro M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function.
Holm R et al.
Biochimica Et Biophysica Acta, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 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
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 2015
Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.
Kirshenbaum GS et al.
Behavioral Neuroscience, 2015
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT et al.
Pediatric Neurology, 2015
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Termsarasab P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014