Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome

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...

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Bibliographische Detailangaben

Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 55(2017), 11 vom: 02. Nov., Seite 818-823
1. Verfasser:	Liu, A J (VerfasserIn)
Weitere Verfasser:	Yang, X X, Xu, X J, Wu, Q X, Tian, X J, Yang, X L, Wu, X R, Wei, L P, Zhang, Y H
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2017
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Journal Article Epilepsy Mosaicism Mutation SCN1A gene NAV1.1 Voltage-Gated Sodium Channel SCN1A protein, human