Child Neurology Society's Brainstorm CNS Brainstorm Episode 40 "Genetic Epilepsies" with guest Erika Axeen, MD
Mar 23, 2025
Erika Axeen, an Associate Professor of Neurology and Pediatric Epileptologist at the University of Virginia, dives into the dynamic world of genetic epilepsies. She discusses the essential role of neurogenetics in diagnosis and treatment, highlighting the emotional journey families face. The conversation covers the complexities of variants of unknown significance, advancements in genetic testing, and the importance of genetic counseling. Axeen emphasizes personalized treatment options and the collaboration necessary between clinicians and genetic counselors to enhance patient outcomes.
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Neurogenetics Defined
- Neurogenetics combines neuroscience and genetics.
- It aims to understand how genes influence the neurological system's function and development.
Reasons for Genetic Testing
- Consider genetic testing to understand a child's epilepsy better.
- It helps guide treatment, inform prognosis, and provide psychosocial benefits.
Targeted Treatment Example
- For instance, a ketogenic diet is a targeted treatment for glucose transporter type 1 deficiency syndrome.
- This illustrates how genetic testing can directly inform treatment decisions.