Suppr超能文献

新生儿发作性癫痫的遗传学诊断:回到未来。

Genetic diagnosis in neonatal-onset epilepsies: Back to the future.

机构信息

Child Neuropsychiatry Unit, University of Parma, Parma, Italy.

Medical Genetics, University Hospital of Parma, Parma, Italy.

出版信息

Eur J Paediatr Neurol. 2018 May;22(3):354-357. doi: 10.1016/j.ejpn.2018.02.006. Epub 2018 Feb 16.

Abstract

Seizures are more frequent in newborns than in any other period of life. In most cases they are due to acute dysfunction of the central nervous system; however some can be true epileptic disorders with an early onset. Although rare, diagnosis of neonatal-onset epilepsies is rising as genetic testing increases. The spectrum of clinical severity associated with specific genes can vary widely with difficulties in providing genotype-phenotype correlations. Therefore, clinicians should strive in order to clearly delineate the clinical features associated with pathogenic genetic variants with the aim to guide the increasing use of genetic testing and improve clinical management.

摘要

新生儿期的癫痫发作比生命中的任何其他时期都更常见。在大多数情况下,它们是由于中枢神经系统的急性功能障碍引起的;然而,有些可能是真正的癫痫障碍,具有早期发病。尽管罕见,但随着基因检测的增加,新生儿癫痫的诊断呈上升趋势。与特定基因相关的临床严重程度谱差异很大,基因型-表型相关性的提供存在困难。因此,临床医生应努力明确与致病性基因突变相关的临床特征,旨在指导越来越多地使用基因检测并改善临床管理。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验