De novo sodium channel αl-subuult mutation of monozygotic twins with borderland severe myoclonic epilepsy in infancy

VernacularTitle:同卵双生的界限型婴儿重症肌阵挛癫(癎)患者中的钠通道α1基因新突变
Author: Li CHEN ; Yiwu SHI ; Meijuan YU ; Weiyi DENG ; Xiaorong LIU ; Meimei GAO ; Haohui CHANG ; Yuesheng LONG ; Yonghong YI ; Weiping LIAO
Publication Type:Journal Article
Keywords: Epilepsies,myoclonic; Nerve tissue proteins; Sodium channels; Chromatography,high pressure liquid; Mutation
From: Chinese Journal of Neurology 2009;42(2):115-118
CountryChina
Language:Chinese
Abstract: Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.