ArticlePediatric investigation2022
Chinese patients with p.Arg756 mutations of
Article in Pediatric investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Identification of Genetic Variants in Status Epilepticus Associated With Fever.Brain and behavior · 2025Observational
- Article
- Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.The Journal of biological chemistry · 2023Article
- Chinese patients with p.Arg756 mutations ofPediatric investigation · 2022Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Importance: The phenotypes of Objective: To summarize the clinical manifestations, treatment, and follow-up of Chinese patients with p.Arg756 mutations of Methods: We analyzed the clinical features, treatment, and genotypes of eight children with p.Arg756 mutations of Results: Eight patients (six boys and two girls) were included; seven had been misdiagnosed with encephalitis. The age of onset ranged from 0.8 to 4.5 years. All patients had encephalopathy and had at least one episode of FIPWE. Cerebellar ataxia was present in nine episodes. Reversible splenial lesions of the corpus callosum were found in two patients in the acute phase. Three types of heterozygous Interpretation: Acute encephalopathy followed by febrile disease was characteristic of the disease in patients with p.Arg756 mutations of
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