Article
Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
Molecular neurobiology - 1 Mar 2016
Zheng Wen, Zhang Jie, Deng Xiong, Xiao Jingjing, Yuan Lamei, Yang Yan, Guan Liping, Song Zhi, Yang Zhijian, Deng Hao
Abstract excerpt
Febrile seizures (FS), the most frequent type of seizures in children, occur in neurologically normal infants and children between the ages of 3 months and 5 years with genetic predisposition. The aim of this study was to identify the responsible gene in a four-generation Chinese Han pedigree with autosomal dominant FS. Seven family members (three affected and four unaffected) were enrolled in this study. Exome...
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