Associated Papers
Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.
Haq IU et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Rapid-onset dystonia-parkinsonism: First African case of ATP1A3 mutation.
El Otmani H et al.
Parkinsonism & Related Disorders, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.
Haq IU et al.
Parkinsonism & Related Disorders, 2025
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
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
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
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III.
Moreno C et al.
Pnas Nexus, 2022
Teaching Video NeuroImage: Oculogyric Crises in a 12-Year-Old Girl With Rapid-Onset Dystonia Parkinsonism.
Lin J 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
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
Biondo ED et al.
American Journal of Physiology. Cell Physiology, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B et al.
American Journal of Medical Genetics. Part A, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A et al.
Brain : a Journal of Neurology, 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
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.
Hoshino K et al.
Neurology. Genetics, 2021
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Salles PA et al.
Frontiers in Neurology, 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
Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.
Tran L et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.
Hashimoto A et al.
Brain & Development, 2019
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X et al.
Clinical Genetics, 2019
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
Sweadner KJ et al.
Neurology. Genetics, 2019
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
Galaz-Montoya CI et al.
Boletin Medico Del Hospital Infantil De Mexico, 2019
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
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M et al.
Neurogenetics, 2017
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
Importance of a Potential Protein Kinase A Phosphorylation Site of Na+,K+-ATPase and Its Interaction Network for Na+ Binding.
Einholm AP et al.
The Journal of Biological Chemistry, 2016
[Characteristic asymmetric abnormal eye movement and dystonic posture as the first symptoms of alternating hemiplegia of childhood].
Motoki T et al.
No to Hattatsu = Brain and Development, 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
[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
Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.
Holm R et al.
The Journal of Biological Chemistry, 2015
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Paciorkowski AR et al.
Epilepsia, 2015
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
Wilcox R et al.
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
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.
Roubergue A et al.
Jimd Reports, 2015
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Termsarasab P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015