ReviewMolecular genetics & genomic medicine2021
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Review in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 14 citations in OpenAlex.
- The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3.Movement disorders clinical practice · 2026Article
- Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.Epileptic disorders : international epilepsy journal with videotape · 2024Article
- Article
- ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.Disease models & mechanisms · 2024Article
- Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.Children (Basel, Switzerland) · 2023Article
- Genetic and environmental risk factors of acute infection-triggered encephalopathy.Frontiers in neuroscience · 2023Review
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- The Phenotypic Continuum ofNeurology · 2022Review
- Chinese patients with p.Arg756 mutations ofPediatric investigation · 2022Article
- 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
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVariants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype-phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756-two acronyms are proposed for the moment-FIPWE (fever-induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia). MATERIALS AND
methodsHerein, we are describing two new pediatric cases with a p.Arg756His change in the ATP1A3 gene. Both patients have had more than one episode of a neurological decompensation triggered by fever with severe hypotonia and followed by ataxia. Thirty-three cases from literature were analyzed to define and strengthen the genotype-phenotype correlation of variants located in residue 756 (p.Arg756His, p.Arg756Cys, p.Arg756Leu).
conclusionsPatients with a ATP1A3 variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements.
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