SCN1A gene mutation in a familial inherited Dravet syndrome with dizygotic twins and literature review
Abstract：Objective To study the clinical features and SCN1A gene mutation in a familial inherited Dravet syndrome family with dizygotic twins.Methods The clinical manifestations of dizygotic twins with Dravet syndrome and GEFS + mother were summarized and SCN1A gene was sequenced.The relationship between genotype-phenotype of SCN1A gene and Dravet syndrome was analyzed by literature.Results The dizygotic twins and their mother have de novo SCN1A gene mutant c.3624A ＞ T(p.R1208S) at the second loop of Na+ channel α subunit.This is very rare compared to the usual mutation domain at S4 or S5-S6.It is the first report in China that Dravet syndrome dizygotic twins inherited SCN1A gene mutation from their mother who was diagnosed as GEFS+.Point mutations of SCN 1A were more common,accounting for 93.8％.The relationships between phenotype-genotype were very complex,since other pathogenic factors may be involved in.Conclusion It is the first report in China that SCN1A gene mutation in a familial inherited Dravet syndrome with dizygotic twins and found a de novo SCN 1A gene mutation of c.3624A ＞ T(p.R1208S),which is located at the very rare region of the protein.
Keywords：inherited Dravet syndromefamilial Dravet syndromeSCN 1Agene mutationdizygotic twins
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 781-785 )