Associated Papers
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
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
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 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
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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 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
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano ST et al.
Pediatric Neurology, 2017