Genetic characteristics of SCN1A gene in familial severe myoclonic epilepsy in infancy

VernacularTitle:家族性婴儿重症肌阵挛癫(癎)患儿电压门控性钠通道α1亚基基因的遗传特征
Author: Yuzhen MAI ; Xiaorong LIU ; Yiwu SHI ; Weiyi DENG ; Meijuan YU ; Li CHEN ; Haohui CHANG ; Weiping LIAO
Publication Type:Journal Article
Keywords: Epilepsies,myoclome; Nerve tissue proteins; Sodium channels; Mosaicism
From: Chinese Journal of Neurology 2009;42(7):454-458
CountryChina
Language:Chinese
Abstract: Objective To explore the inheritance characteristics of SCN1A gene in familial severe myoclome epilepsy in infancy.Methods The clinical information and blood of the patients and their relatives who had febrile seizure(FS)or epilepsy history were collected.Blood genome DNA were extracted.All exons of SeN1A gene were PCR amplified and screened with denaturing high Performance liquid chromatography(DHPLC)technology,and sequence analysis was performed.Results Fourteen SME patients had FS or epilepsy family history.Five were found positive history in first class relatives and 2 of them had inherited mutations of SCN1A(C.4284+2T>C and e.1216G>T):Other9 were found positive history in second class relatives and 2 of them had de novo mutations of SCN1A.Condusions SCN1A is the pathogenic gene for SME.The same muatation of SCN1A gene can be related to different clinical phenotypes.SME patients whose first class relatives with FS or epilepsy history should be taken as the focus of SCN1A inherited mutation screening.