Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

@inproceedings{Uddin2018GenomicCA,
  title={Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots},
  author={Mohammed Jasim Uddin and Marc Woodbury-Smith and Ada J. S. Chan and Ammar Albanna and Berge E Minassian and Cyrus G Boelman and Stephen W. Scherer},
  booktitle={G3},
  year={2018}
}
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… CONTINUE READING