Take this Course Online

View Course Online

Certain session presentations (such as the introduction) do not have slides to go with the audio. Choose "Presentations" from the drop down list on the left panel to select other session presentations and speakers. To download audio for MP3 player, click on "Save MP3".

Pediatric State of the Art Symposium: Treatable Metabolic Epilepsies

Back to Course Listings

Program Length: 120 minutes
Non Credit

Overview

This symposium will review epilepsies due to inheriteddisorders that are treatable, yet catastrophic if unrecognized. An overview oftreatable metabolic epilepsies (presenting as neonatal seizures, infantilespasms and medication-resistant seizures) will provide background and examplesof conditions which require rapid identification. Three specific disorders[vitamin dependent epilepsies, glucose transporter deficiency and DEND(developmental delay, epilepsy, and neonatal diabetes)] will be discussed indepth, including diagnostic testing and treatment.

Learner Outcomes 

  • Diagnosetreatable inherited metabolic epileptic encephalopathies using appropriatelaboratory investigations
  • Usepyridoxine, folinic acid, and pyridoxal phosphate as required therapeuticinterventions when treating neonatal epilepsy
  • Assess theneed for a lumbar puncture for diagnosis of glucose transporter deficiency andcommunicate necessity of testing when consulting with PCP regarding infantswith epilepsy
  • Use oralhypoglycemic agents rather than insulin for treatment of a neonate withepilepsy and diabetes. 

Target Audience

Pediatric neurologists, epileptologists, neuroscientists,pediatricians and neurology nurse specialists

Program

Chair: Phillip L. Pearl, M.D.

The Top Ten Diagnoses You Can't Afford to Miss
Phillip L. Pearl, M.D. 

Pyridoxine Dependent Seizures in All Its Forms
Sidney M. Gospe, Jr., M.D., Ph.D. 

Update on Glucose Transporter Deficiency and Use ofthe Ketogenic Diet
Darryl C. De Vivo, M.D. 

Putting an End to DEND: A New and Eminently TreatableMetabolic Epilepsy
Edward C. Cooper, M.D., Ph.D.