Article
Molecular aspects of Dravet syndrome patients in Taiwan.
Clinica chimica acta; international journal of clinical chemistry - 5 Jun 2013
Lin Wei-De, Chang Kai-Ping, Wang Chung-Hsing, Chen Shyi-Jou, Fan Pi-Chuan, Weng Wen-Chin, Lin Wei-Chiang, Tsai Yushin, Tsai Chang-Hai, Chou I-Ching, Tsai Fuu-Jen
Abstract excerpt
BACKGROUND: Dravet syndrome (DS) is a rare form of intractable epilepsy. Children with DS often start having seizures in infancy, and gradually develop other seizure types. Several studies have demonstrated that certain gene mutations and submicroscopic copy number variations (CNV) in DS patients are strongly associated with intractable epilepsy. In this study, directed DNA sequencing and microarray technology...
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