SCN1A gene variation and related epilepsy syndrome
10.3760/cma.j.issn.1673-4408.2016.05.012
- VernacularTitle:SCN1A基因突变与相关癫(癎)综合征的研究进展
- Author:
Qian ZHAO
- Publication Type:Journal Article
- Keywords:
SCN1A gene;
Gene mutation;
Epilepsy
- From:
International Journal of Pediatrics
2016;43(5):397-400
- CountryChina
- Language:Chinese
-
Abstract:
Among the genes involved in epilepsy,the SCN1 A gene represents one of the most commonly mutated human epilepsy genes, refers to be as super culprit gene, SCN1 A mutations cause epilepsy phenotype heterogeneity, diversity of clinical manifestations, the light performance of febrile seizures, it shows severe infant severe myoclonic epilepsy.By retrieving SCN1 A in gene mutation database, about 900 gene mutatation are associated with epilepsy syndrome.This article reviews the importance of SCN1 A gene mutation associates with epilepsy syndrome,and the importance of genetic screening SCN1 A.
