Associated Papers
Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood.
O Dwyer G et al.
Ophthalmic Genetics, 2025
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
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
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Jaffer F et al.
Brain : a Journal of Neurology, 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
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
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
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL et al.
Nature Genetics, 2012