...
【24h】

Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A.

机译:Panayiotopoulos综合征:可能的遗传起源,但不在SCN1A中。

获取原文
获取原文并翻译 | 示例
           

摘要

Panayiotopoulos syndrome is encompassed in the classification of the ILAE in idiopathic focal epilepsies. Mutations in the SCN1A gene have been associated with the development of this syndrome. We present two cases of Panayiotopoulos syndrome in two monozygotic twins, who underwent a molecular analysis of SCN1A, but no alteration was found. These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome.
机译:在特发性局灶性癫痫的ILAE分类中包括Panayiotopoulos综合征。 SCN1A基因的突变与该综合征的发展有关。我们介绍了两个单卵双胞胎中的Panayiotopoulos综合征的两个案例,他们接受了SCN1A的分子分析,但未发现任何改变。这些病例表明有遗传起源,SCN1A似乎与预后相关,但与该综合征的发生无关。

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号