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
ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model.
Akkuratov EE et al.
Brain : a Journal of Neurology, 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
In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Ruan DD et al.
Frontiers in Neuroscience, 2024
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
Ford CP et al.
Molecular Genetics & Genomic Medicine, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.
Yu L et al.
Frontiers in Aging Neuroscience, 2022
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
Combined dystonias: clinical and genetic updates.
Weissbach A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 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
Paroxysmal Genetic Movement Disorders and Epilepsy.
de Gusmão CM et al.
Frontiers in Neurology, 2021
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Uchitel J et al.
Brain Communications, 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
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Zhou GH et al.
Human Genetics, 2020
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.
Shrivastava AN et al.
Neuropharmacology, 2020
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E et al.
Neurobiology of Disease, 2019
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
Haq IU et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
The expanding spectrum of ATP1A3 related disease.
Fernandes C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
A Transgenic Mouse Model to Selectively Identify α3 Na,K-ATPase Expressing Cells in the Nervous System.
Dobretsov M et al.
Neuroscience, 2019
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
Sweadner KJ et al.
Neurology. Genetics, 2019
Novel E815K knock-in mouse model of alternating hemiplegia of childhood.
Helseth AR et al.
Neurobiology of Disease, 2018
Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.
Hunanyan AS et al.
Epilepsia, 2018
Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.
Isaksen TJ et al.
Plos Genetics, 2017
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
Diagnosis and Treatment of Alternating Hemiplegia of Childhood.
Masoud M et al.
Current Treatment Options in Neurology, 2017
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.
Holm TH et al.
Scientific Reports, 2016
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 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
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
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L et al.
Plos One, 2015
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki M et al.
Neurology, 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
Genetics in dystonia: an update.
Fuchs T et al.
Current Neurology and Neuroscience Reports, 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
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL et al.
Nature Genetics, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H et al.
The Lancet. Neurology, 2012
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
Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.
Ashmore LJ et al.
Human Genetics, 2009
The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.
Morth JP et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009