Article
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
Genes, brain, and behavior - 1 Nov 2018
Li T, Cheng M, Wang J, Hong S, Li M, Liao S, Xie L, Jiang L
Abstract excerpt
To detect syntaxin-binding protein 1 (STXBP1) mutations in Chinese patients with early onset epileptic encephalopathy (EOEE) of unknown etiology. Targeted next-generation sequencing was used to identify STXBP1 mutations in 143 Chinese patients with EOEE of unknown etiology. A filtering process was applied to prioritize rare variants of potential functional significance. Then Sanger sequencing was employed to...
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