Clinical Letter: A case report of targeted therapy with sirolimus for NPRL3 epilepsy

Seizure. 2019 Dec:73:43-45. doi: 10.1016/j.seizure.2019.10.007. Epub 2019 Oct 31.
No abstract available

Keywords: Cortical malformation; GATOR; NPRL3; Refractory epilepsy; Sirolimus.

Publication types

  • Case Reports

MeSH terms

  • Drug Delivery Systems / methods*
  • Drug Resistant Epilepsy / drug therapy*
  • Drug Resistant Epilepsy / genetics*
  • Drug Resistant Epilepsy / physiopathology
  • GTPase-Activating Proteins / genetics*
  • Humans
  • Immunosuppressive Agents / administration & dosage
  • Infant
  • Male
  • Sirolimus / administration & dosage*

Substances

  • GTPase-Activating Proteins
  • Immunosuppressive Agents
  • NPRL3 protein, human
  • Sirolimus