Article
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
G3 (Bethesda, Md.) - 28 Mar 2018
Uddin Mohammed, Woodbury-Smith Marc, Chan Ada J S, Albanna Ammar, Minassian Berge, Boelman Cyrus, Scherer Stephen W
Abstract excerpt
Mutations within STXBP1 have been associated with a range of neurodevelopmental disorders implicating the pleotropic impact of this gene. Although the frequency of de novo mutations within STXBP1 for selective cohorts with early onset epileptic encephalopathy is more than 1%, there is no evidence for a hotspot within the gene. In this study, we analyzed the genomic context of de novo STXBP1 mutations to examine...
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