NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor
NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor
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DOI：
10.1016/j.eplepsyres.2020.106371
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发表时间：
2020-08-01
影响因子：
2.2
通讯作者：
Katsuno, Masahisa
中科院分区：
文献类型：
--
作者：
Araki, Kunihiko;Nakamura, Ryoichi;Katsuno, Masahisa
我们报道了一种新的杂合NUS1移码突变常染色体显性遗传的家族性癫痫患者。所有患者均有小脑性共济失调和震颤。诊断为儿童期缺失性癫痫3例，全身性癫痫1例，帕金森病无癫痫1例。我们的病例和先前报道的包含NUS1的6q22染色体缺失病例都有这些共同症状。在细胞实验中，NUS1突变导致NUS1蛋白水平大幅降低。NUS1突变可能与癫痫发病有关，并与小脑性共济失调和震颤构成独特的综合征实体。
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.