Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference12 articles.
1. Myoclonic disorders;Eberhardt;Brain Sci.,2017
2. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies;Hamdan;Am. J. Hum. Genet.,2017
3. Psychosis in NUS1 de novo mutation: new phenotypical presentation;Fraiman;Clin. Genet.,2021
4. NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor;Araki;Epilepsy Res.,2020
5. Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report;Den;BMC Neurol.,2019
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability;Frontiers in Genetics;2024-04-09
2. Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy;2024-04-02
3. Myoclonus;Movement Disorders Phenomenology;2024
4. DHDDS and NUS1: A Converging Pathway and Common Phenotype;Movement Disorders Clinical Practice;2023-11-28
5. Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy;Frontiers in Genetics;2023-07-04
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