双边叶形和发作与双性CNTNAP2变体相关
Norman Panza1, Claudia Bianchini1, Valentina Cetica1
1Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Epilepsia open
|October 8, 2023
概括
双性CNTNAP2变体导致皮特-霍普金斯样综合征,具有特征的叶. 大多数患者患有拼接部位变异和耐药性,在MRI上突出表现出叶扩张.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 医疗成像医学成像
背景情况:
- CNTNAP2基因中的双变异与皮特-霍普金斯样综合征有关.
- 之前的研究发现了难治性,但缺乏详细的神经成像和电生理学数据.
研究的目的:
- 描述与双性CNTNAP2变体相关的的神经成像,电生理学和临床特征.
- 扩大对CNTNAP2相关疾病的表型谱和遗传基础的理解.
主要方法:
- 七名患有双性CNTNAP2变异的患者的病例系列 (六个新型,一个之前报告).
- 对64名额外患者的文献综述.
- 分析大脑MRI,EEG数据和遗传发现 (拼接地点变异).
主要成果:
- 所有患者都在MRI上表现出双边灰色/白质模糊和白质高信号强度,这表明叶扩张不良.
- 焦点发作与叶发作和半形学在患者之间是一致的.
- 在很大程度上是耐药的 (71.5%),拼接位变异是最常见的遗传发现 (71.5%).
结论:
- 双性CNTNAP2变异与一种独特的现型有关,其特征是双边叶形和发病.
- 这些发现对患有CNTNAP2相关的患者的临床管理有重大影响.
- 这项研究强调了叶在这种遗传性综合征中的解剖电气临床参与.
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