Child Neuropsychiatry Unit, University of Parma, Parma, Italy.
Medical Genetics, University Hospital of Parma, Parma, Italy.
Eur J Paediatr Neurol. 2018 May;22(3):354-357. doi: 10.1016/j.ejpn.2018.02.006. Epub 2018 Feb 16.
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.
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。
