Progress of genetic research in the spectrum of idiopathic rolandic epilepsy syndromes
10.3760/cma.j.issn.1006-7876.2019.01.012
- VernacularTitle:特发性伴中央颞区棘波的癫痫谱系疾病的遗传学研究进展
- Author:
Yiran DUAN
1
;
Yu GAO
;
Mingyu LI
;
Yuping WANG
Author Information
1. 首都医科大学宣武医院神经内科,北京100053
- Keywords:
Epilepsy;
Rolandic,centrotemporal;
Epileptic syndromes;
Genetics
- From:
Chinese Journal of Neurology
2019;52(1):55-61
- CountryChina
- Language:Chinese
-
Abstract:
The spectrum of idiopathic rolandic epilepsy syndromes (IRES) is a concept proposed by Scheffer and other scientists,based on plenty of researches and followed by the classification of International League Against Epilepsy.This spectrum is characterized by centrotemporal spikes and includes several syndromes,such as benign epilepsy of childhood with centrotemporal spikes,atypical benign partial epilepsy,Landau-Kleffner syndrome,continuous spikes and waves during sleep,autosomal dominant Rolandic epilepsy and speech dyspraxia.The spectrum has obvious genetic predisposition and the main modes of inheritance are autosomal dominant inheritance and polygenic inheritance.The exact inheritance mechanism needs further study.Several genes,such as elongation protein 4,recombinant glutamate receptor,ionotropic,N-methyl-D-aspartate 2A,γ-aminobutyric acid A receptor,potassium channel,voltage-gated,KQT-like subfamily,member 2/3,brain-derived neurotrophic factor,DEP domaincontaining 5,RNA binding protein fox-1 homolog 1/3 gene and a variety of copy number variations are related to the spectrum.In this review,we summarize the genetics,clinical and electrophysiological characteristics of the spectrum,to comprehensively understand the IRES spectrum and to provide support for clinical diagnosis and treatment.
