Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Department of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya University Graduate School of Medicine, Furo-cho, Chikusa-ku, Nagoya, 464-8601, Japan.
Epilepsy Res. 2020 Aug;164:106371. doi: 10.1016/j.eplepsyres.2020.106371. Epub 2020 May 22.
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.
我们报告了 5 例常染色体显性遗传的新型杂合 NUS1 移码突变的家族性 5 型癫痫患者。所有患者均有小脑性共济失调和震颤。3 例患者被诊断为儿童失神性癫痫，1 例为全身性癫痫，1 例为帕金森病而无癫痫。我们的病例和以前报道的包含 NUS1 的 6q22 染色体缺失病例有这些共同的症状。在细胞实验中，NUS1 突变导致 NUS1 蛋白水平显著降低。NUS1 突变可能导致癫痫发病机制，并构成一种以小脑性共济失调和震颤为特征的独特综合征实体。
