Article
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 May 2016
Liu A J, Zhang Y H, Xu X J, Yang X L, Yang Z X, Wu Y, Liu X Y, Jiang Y W, Wu X R
Abstract excerpt
OBJECTIVE: To explore the genotype and phenotype of female Dravet syndrome (DS) patients with PCDH19 mutations. METHOD: Clinical data of all DS patients seen at Pediatric Department of Peking University First Hospital from February 2005 to May 2015 were prospectively collected. Genomic DNAs were extracted from the patients and their family members. Female DS patients without SCN1A mutation were enrolled. PCR and...
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