Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Childhood fever and hearing loss associated with CAPOS syndrome.
Kaneshiro S et al.
Auris, Nasus, Larynx, 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
Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.
Rissardo JP et al.
Rambam Maimonides Medical Journal, 2024
ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.
Fujii F et al.
Disease Models & Mechanisms, 2024
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.
Immanneni C et al.
Neurology. Genetics, 2024
Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.
Sano F et al.
Children (basel, Switzerland), 2023
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
Expanding phenotype of ATP1A3 mutation.
Cherian A et al.
Acta Neurologica Belgica, 2022
ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?
Martin AJ et al.
Movement Disorders Clinical Practice, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P et al.
Medicine, 2022
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Wei W et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-up.
Zhang W et al.
Pediatric Investigation, 2022
Molecular and clinical characteristics of ATP1A3-related diseases.
Li Y et al.
Frontiers in 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
A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.
Tahir S et al.
Cureus, 2021
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M et al.
Molecular Genetics & Genomic Medicine, 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
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.
Shrivastava AN et al.
Neuropharmacology, 2020
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous N et al.
Biomedicines, 2020
[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants].
Zhang WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
Sabouraud P et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
Sival DA et al.
Pediatric Neurology, 2018
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.
Nakamura Y et al.
Brain & Development, 2018
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
Novel pregnancy-triggered episodes of CAPOS syndrome.
Chang IJ et al.
American Journal of Medical Genetics. Part A, 2018
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.
Sousa AL et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano ST et al.
Pediatric Neurology, 2017
[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
Zhang CL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Hully M et al.
Neurogenetics, 2017
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H et al.
Bmc Neurology, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.
Kinoshita PF et al.
Frontiers in Physiology, 2016
Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation.
Tan AH et al.
Movement Disorders Clinical Practice, 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
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
Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.
Kaneko M et al.
Nature Genetics, 2014