Epilepsy Center, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China.
Neurol Sci. 2023 Oct;44(10):3495-3498. doi: 10.1007/s10072-023-06851-4. Epub 2023 May 30.
Variants 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).
Herein, 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.
Our 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.
NUS1 基因突变与广泛的表型相关，包括癫痫、智力障碍、小脑共济失调、帕金森病、肌张力障碍和先天性糖基化障碍。它在进行性肌阵挛性癫痫（PME）中很少见报道。
在此，我们报告了一例由新型从头 NUS1 错义变异（c.302T>A，p.Met101Lys）引起的 PME 病例。此外，我们还回顾了当前关于 NUS1 相关 PME 的文献。目前，文献中已有五例 NUS1 变异与 PME 相关的病例报道。由于报道的病例有限，NUS1 变异与 PME 之间的关系尚未明确。
我们的病例进一步证明了 NUS1 变异在 PME 中的作用。这些发现扩展了 NUS1 变异的临床表型，这些表型应纳入 PME 的遗传筛查面板。
