婴儿严重肌阵挛癫痫中SCN1A的频繁突变。
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
作者信息
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K
机构信息
Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama, Japan.
出版信息
Neurology. 2002 Apr 9;58(7):1122-4. doi: 10.1212/wnl.58.7.1122.
PMID:11940708
Abstract
Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein.
摘要
已发现神经元电压门控钠通道α亚基I型基因（SCN1A）的突变是导致婴儿严重肌阵挛性癫痫（SMEI）的原因。作者描述了日本SMEI患者中SCN1A的新突变。他们对12名无亲缘关系的患者和一对同卵双胞胎进行了筛查，检测到10个导致蛋白质截短的突变。
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