一名克莱恩费尔特综合征患者的 SEMA6B 相关进行性肌阵挛癫痫

T. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko
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引用次数: 0

摘要

在大多数情况下,SEMA6B 基因核苷酸序列变异是导致进行性肌阵挛癫痫表型的原因,其次是伴有或不伴有癫痫的发育性脑病。主要位于 SEMA6B 基因第 17 号外显子的核苷酸序列功能缺失变异导致产生具有 "毒性 "功能的异常蛋白质。文章描述了一例因 SEMA6B 基因变异(c.2506delС; p.His836ThrfsTer136; NM_032108.4)而导致状态性癫痫的临床病例,拓展了我们对 SEMA6B 基因变异导致进行性肌阵挛癫痫的认识。
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SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome
In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy with or without epilepsy. Loss-of-function variants in nucleotide sequence localized mainly in exon 17 of the SEMA6B gene contribute to production of aberrant proteins with “toxic” functions. A clinical case of status epilepsy in a patient with a variant in the SEMA6B gene (c.2506delС; p.His836ThrfsTer136; NM_032108.4) is described in the article that expands our knowledge regarding the SEMA6B gene variants resulting in progressive myoclonus epilepsy.
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来源期刊
Epilepsy and Paroxysmal Conditions
Epilepsy and Paroxysmal Conditions Medicine-Neurology (clinical)
CiteScore
0.90
自引率
0.00%
发文量
31
审稿时长
8 weeks
期刊最新文献
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