Research progress in genetic studies of Rolandic epilepsy
10.3760/cma.j.cn101070-20190306-00167
- VernacularTitle:Rolandic癫痫的遗传病学研究进展
- Author:
Xiao LI
1
;
Li JIANG
Author Information
1. 重庆医科大学附属儿童医院神经内科，儿童发育疾病研究教育部重点实验室，国家儿童健康与疾病临床医学研究中心，儿童发育重大疾病国家国际科技合作基地/儿科学重庆市重点实验室，重庆 400014
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(4):314-317
- CountryChina
- Language:Chinese
-
Abstract:
Rolandic epilepsy (RE), also known as benign epilepsy of childhood with centrotemporal spikes (BECTS), is the most common childhood idiopathic epilepsy syndrome.In the past, RE was often thought to have a good prognosis and usually disappeared spontaneously before puberty.However, Aicardi and Chevrie proposed the concept of RE variant (ARE) in 1982, and claimed that the clinical and electrophysiological manifestations of some RE children patients were in accordance with the characteristics of RE at the early stage of onset, but the clinical and EEG deteriorated during the course of the disease.RE is now considered to be a continuous epileptic-aphasia spectrum (EAS) disorder that causes mild to severe brain damage, often accompanied by varying degrees of cognitive and speech dysfunction.The etiology of RE is complex, and its pathogenesis is still not quite clear.With the development of molecular genetics, a complex interplay between the polygenic inheritance and environment has been found contributed to the etiology of RE.In addition, many striking genes are discovered.In this review, recent gene findings associated with RE were stressed, and the molecular biological characteristics and variants of related genes ( GRIN2A, KCNQ2, KCNQ3, DEPDC5, ELP4-PAX6, GABAA-R, RBFOX1/3), clinical-gene correlation and variants-function investigation were described in detail in order to help with interpretation of clinical gene report clinical diagnosis of RE.
