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Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
Ji, Caihong; Zhao, Jiajia; Zhang, Jianfang; Wang, Kang.
Afiliação
  • Ji C; Epilepsy Center, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China.
  • Zhao J; Epilepsy Center, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China.
  • Zhang J; Epilepsy Center, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China.
  • Wang K; Epilepsy Center, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China. fcwangk1@zju.edu.cn.
Neurol Sci ; 44(10): 3495-3498, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37249665
ABSTRACT

BACKGROUND:

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). METHODS AND

RESULTS:

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.

CONCLUSIONS:

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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas Tipo de estudo: Systematic_reviews Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas Tipo de estudo: Systematic_reviews Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article