Article
[Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2017
Liu A J, Yang X X, Xu X J, Wu Q X, Tian X J, Yang X L, Wu X R, Wei L P, Zhang Y H
Abstract excerpt
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to...
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