Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases

Seizure. 2024 Jan:114:57-60. doi: 10.1016/j.seizure.2023.11.021. Epub 2023 Nov 29.
No abstract available

Keywords: Absence epilepsy; Myoclonic absence seizures; Neurodevelopmental disorders; SETD1B.

Publication types

  • Case Reports

MeSH terms

  • Epilepsies, Myoclonic* / complications
  • Epilepsies, Myoclonic* / diagnosis
  • Epilepsies, Myoclonic* / genetics
  • Humans
  • Intellectual Disability* / complications
  • Intellectual Disability* / genetics
  • Phenotype
  • Seizures / complications

Substances

  • SETD1B protein, human