中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2013, Vol. 8 ›› Issue (10): 955-958.doi: 10.3969/j.issn.1673-5374.2013.10.011

• 原著:脑损伤修复保护与再生 • 上一篇    

来自土耳其Dravet综合征患儿的SCN1A 基因新突变

  

  • 收稿日期:2012-11-06 修回日期:2013-01-30 出版日期:2013-04-05 发布日期:2013-04-05

A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey

Mutluay Arslan1, Uluç Yiş2, Hande Çağlayan3, Rıdvan Akin1   

  1. 1 Department of Pediatric Neurology, Gülhane Military Medical School, Etlik, Ankara 06018, Turkey
    2 Department of Pediatric Neurology, Dokuz Eylül University School of Medicine, Alsancak, ?zmir 35210, Turkey
    3 Department of Molecular Biology and Genetics, Bo?aziçi University, Be?ikta?, ?stanbul 34342, Turkey
  • Received:2012-11-06 Revised:2013-01-30 Online:2013-04-05 Published:2013-04-05
  • Contact: Mutluay Arslan☆, M.D., Specialist in pediatrics, Fellow in pediatric neurology department, Department of Pediatric Neurology, Gülhane Military Medical School, Etlik, Ankara 06018, Turkey, mutluayarslan@yahoo.com.

PDF

859

摘要：

电压依赖性钠通道α1亚基基因突变是Dravet综合征发病的主要原因。文章报道了2例有电压依赖性钠通道α1亚基基因突变的Dravet综合征病例。发现1例Dravet综合征患儿的电压依赖性钠通道α1亚基基因新突变，该基因的第24外显子的5个核苷酸缺失。

关键词: 神经再生, ravet综合征, 儿严重肌阵挛性癫痫, 压依赖性钠通道α1亚基基因, 因突变, 童, 耳其, 痫, 治性癫痫发作

Abstract:

Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.

Key words: neural regeneration, linical practice, ravet syndrome, odium channel α1 subunit gene, utation, hild, urkish, pilepsy, efractory seizures, euroregeneration