SynthesisNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023
Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
Synthesis in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.Annals of neurology · 2025Article
- Case Report:Frontiers in pediatrics · 2025Article
- Expanding the spectrum ofFrontiers in genetics · 2025Article
- Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability.Frontiers in genetics · 2024Article
- Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.Brain communications · 2024Review
- Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.Frontiers in genetics · 2023Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundVariants of the NUS1 gene have been associated with an extensive spectrum of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson's disease, dystonia, and congenital disorder of glycosylation. It is rarely reported in progressive myoclonus epilepsy (PME). METHODS AND
resultsHerein, we report the case of PME caused by a novel de novo NUS1 missense variant (c.302T>A, p.Met101Lys). In addition, we reviewed the current literature of NUS1-associated PME. At present, five patients with NUS1 variants and PME have been reported in the literature. Due to limited cases reported, the relationship between NUS1 variants and PME is not well-established.
conclusionsOur case provides further evidence of the role of NUS1 variants in PME. These findings expand the clinical phenotypes of NUS1 variants, which should be included in the PME genetic screening panel.
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