期刊
EPILEPSY RESEARCH
卷 164, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.eplepsyres.2020.106371
关键词
NUS1 gene; Genetic epilepsy; Tremor; Cerebellar ataxia; Parkinsonism
资金
- KAKENHI [JP17H04195]
- Special Coordination Funds for Rare and Intractable Diseases from Japan Agency for Medical Research and Development (AMED) [JP19ek0109281, JP19ek0109418]
We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient with generalized epilepsy, and 1 patient with parkinsonism without epilepsy. Our cases and previously reported cases with deletions of chromosome 6q22 that include NUS1 share these common symptoms. In a cellular experiment, NUS1 mutation led to a substantial reduction of the protein level of NUS1. NUS1 mutation could contribute to epilepsy pathogenesis and also constitute a distinct syndromic entity with cerebellar ataxia and tremor.
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