Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1

Seizure. 2020 Aug:80:181-182. doi: 10.1016/j.seizure.2020.06.022. Epub 2020 Jun 16.
No abstract available

Keywords: Neurodejenerative disorders; Neuroserpinosis; Progressive myoclonus epilepsy; SERPINI1.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Corpus Callosum / diagnostic imaging
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonic Epilepsies, Progressive / pathology
  • Neuropeptides / genetics*
  • Neuroserpin
  • Serpins / genetics*
  • Unverricht-Lundborg Syndrome / genetics*
  • Unverricht-Lundborg Syndrome / pathology

Substances

  • Neuropeptides
  • Serpins
  • Neuroserpin