Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations

Seizure. 2016 Jan:34:26-8. doi: 10.1016/j.seizure.2015.11.004. Epub 2015 Nov 21.
No abstract available

Keywords: CYP2C9; Epileptic encephalopathy; Exome; Ohtahara syndrome; Phenytoin; STXBP1.

Publication types

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

MeSH terms

  • Anticonvulsants / adverse effects*
  • Child
  • Child, Preschool
  • Cytochrome P-450 CYP2C9 / genetics*
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Munc18 Proteins / genetics*
  • Mutation
  • Phenytoin / adverse effects*

Substances

  • Anticonvulsants
  • Munc18 Proteins
  • STXBP1 protein, human
  • Phenytoin
  • CYP2C9 protein, human
  • Cytochrome P-450 CYP2C9