ReviewPediatric neurology2015
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Review in Pediatric neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 148 citations in OpenAlex.
- Alternating Hemispheric Diffusion-Weighted Imaging Abnormalities: A Characteristic Imaging Pattern in RHOBTB2 Encephalopathy.Korean journal of radiology · 2026Article
- Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.Neurobiology of disease · 2025Article
- Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.Cerebellum (London, England) · 2024Article
- Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.Neurobiology of disease · 2024Article
- Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome.EMBO molecular medicine · 2024Article
- Neuronal autosis is NaCell death & disease · 2024Article
- Differential diagnosis of chorea (guidelines of the German Neurological Society).Neurological research and practice · 2023Article
- A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.Molecular genetics & genomic medicine · 2023Article
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Start Me Up: How Can Surrounding Gangliosides Affect Sodium-Potassium ATPase Activity and Steer towards Pathological Ion Imbalance in Neurons?Biomedicines · 2022Review
- Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.Italian journal of pediatrics · 2022Article
- A Practical Approach to Early-Onset Parkinsonism.Journal of Parkinson's disease · 2022Review
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Article
- Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.Molecular genetics & genomic medicine · 2021Review
- Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene.BMJ case reports · 2021Article
- An interaction between PRRT2 and NaCell death & disease · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.PloS one · 2021Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome.
methodsExisting literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes.
resultsWhile classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis.
conclusionsThe phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches.
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