Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report

Seizure. 2022 Oct:101:8-10. doi: 10.1016/j.seizure.2022.06.019. Epub 2022 Jul 3.
No abstract available

Keywords: Case report; Ohtahara syndrome; STXBP1; Twin.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Munc18 Proteins* / genetics
  • Mutation / genetics
  • Phenotype
  • Twins, Monozygotic* / genetics

Substances

  • Munc18 Proteins
  • STXBP1 protein, human