Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

Clin Genet. 2012 Apr;81(4):399-402. doi: 10.1111/j.1399-0004.2011.01733.x. Epub 2011 Dec 28.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epilepsy, Generalized / genetics*
  • Gene Deletion*
  • Genome, Human
  • Humans
  • Munc18 Proteins / genetics*
  • Syndrome

Substances

  • Munc18 Proteins
  • STXBP1 protein, human