Associated Papers
CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.
Yanartaş MS et al.
Molecular Syndromology, 2025
"Alternating" the Diagnosis after 40 Years of Disease: The Thousand Faces of ATP1A3 Mutation.
Gallo S et al.
Movement Disorders Clinical Practice, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.
Spoto G et al.
Current Issues in Molecular Biology, 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
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D et al.
European Journal of Pediatrics, 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
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
Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the ATP1A3 Gene.
Chouksey A et al.
Movement Disorders Clinical Practice, 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
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 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
Relapsing Neurological Complications in a Child With ATP1A3 Gene Mutation and Influenza Infection: A Case Report.
Pisapia R et al.
Frontiers in Neurology, 2021
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.
Shrivastava AN et al.
Neuropharmacology, 2020
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.
Kim WJ et al.
Journal of Clinical Neurology (seoul, Korea), 2020
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.
Hashimoto A et al.
Brain & Development, 2019
[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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 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
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T et al.
Cerebellum (london, England), 2018
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
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano ST et al.
Pediatric Neurology, 2017
Diagnosis and Treatment of Alternating Hemiplegia of Childhood.
Masoud M et al.
Current Treatment Options in Neurology, 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
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
Nicita F et al.
Parkinsonism & Related Disorders, 2016
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 2015
Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
De Vrieze J et al.
Child Neurology Open, 0