Katia Vine, BS

Cory Smid, MS, CGC

Genetic Enigma: Navigating Variant Discrepancies and Divergent Symptoms in Twin Siblings

  • Examine the specific genetic variant identified in this case.
  • Illustrate the implications of the variant on the health of the affected individuals.
  • Indicate the importance of interdisciplinary communication for a comprehensive approach to managing complex genetic cases.
  • Identify ethical considerations and best practices when working with underage family members.

 

Allyson Impallomeni, MD

Amy Blake Susnow, MD

Case of Intractable Epilepsy in a Neonate

  • Formulate a differential diagnosis for neonatal intractable epilepsy.
  • Examine the metabolism of lysine and biochemical pathophysiology of pyridoxine-dependent epilepsy.
  • Identify the genes associated with pyridoxine-dependent epilepsy and their associated phenotypes.
  • Summarize the appropriate forms of treatment and the outcomes in children with pyridoxine-dependent epilepsy.

 

Session date: 
02/21/2024 - 4:00pm to 5:00pm CST
Location: 
Virtual
WI
United States
See map: Google Maps
  • 1.00 AMA PRA Category 1 Credit™
  • 1.00 ANCC Contact Hours
  • 1.00 CDR CPEUs
  • 1.00 NSGC Category 1 CEU Contact Hours
  • 1.00 University of Wisconsin–Madison Continuing Education Hours
    • 1.00 Approved for AMA PRA Category 1 Credit™
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Discloser List CME Internal Report
Presenter(s): 
Katia Vine, BS (grad student)
Cory Smid, MS, CGC
Allyson Impallomeni, MD (fellow)
Amy Blake Susnow, MD