Pediatric State of the Art Symposium: Treatable Metabolic Epilepsies
Program Length: 120 minutes
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.
- 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.
Pediatric neurologists, epileptologists, neuroscientists,pediatricians and neurology nurse specialists
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.