Recent advances in epilepsy genomics and genetic testing.
Recent advances in epilepsy genomics and genetic testing.
复制标题
DOI：
10.12688/f1000research.21366.1
复制
发表时间：
2020-01-01
期刊：
影响因子：
--
通讯作者：
Mefford, Heather C
中科院分区：
文献类型：
--
作者：
Hebbar, Malavika;Mefford, Heather C
发育性和癫痫性脑病是一组以难治性发作、持续癫痫活动相关的发育迟缓或退化为特征的严重、早期发作的癫痫，预后一般较差。Dee在遗传和表型上是不同的，有太多的基因测试选择来研究快速增长的癫痫基因列表。然而，尽管进行了最先进的基因检测，超过50%的DIE患者仍然没有得到基因诊断。在这篇综述中，我们讨论了近年来出现的癫痫基因组学的主要进展。这篇综述的目标是接触到更多的受众，并更好地了解DIE的发病机制和基因检测选择。
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-of-the-art genetic testing. In this review, we discuss the major advances in epilepsy genomics that have surfaced in recent years. The goal of this review is to reach a larger audience and build a better understanding of pathogenesis and genetic testing options in DEE.