#58-Could epilepsy & seizures be genetic?

In this interview, we learn what epilepsy is, its causes, and the role of genetics in diagnosis and treatment. Beth Sheidley, a genetic counselor, explains the fundamentals of epilepsy, its genetic components, and the latest advancements in genetic testing.

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Keywords:

epilepsy, genetic testing, genetic counseling, seizures, pediatric neurology, genetic causes, epilepsy treatment, genetic diagnosis, brain disorders, clinical trials

Key Topics:

• Clinical presentation of epilepsy and various known causes
• Differences between unprovoked and provoked seizures
• Genetic factors in epilepsy
• Role of genetic counseling in both diagnosis and management

Guest Bio:

Ms. Sheidley is a licensed genetic counselor with over 30 years of experience in clinical genetic counseling, research, and teaching. Her areas of expertise include autism, epilepsy, psychiatric illness and both prenatal and pediatric genetic counseling. She received her BS degree from Cornell University in 1990 and her MS in genetic counseling from Brandeis University in 1994, where she served as Professor of the Practice/Co-Director of Research and Professional Development from 2005 to June 2014.

Ms. Sheidley is the Director of Genetic Counseling for the Department of Neurology at Boston Children’s Hospital where she co-founded the first Epilepsy Genetics Program in the United States. Ms. Sheidley also co-founded and chairs EpiGC, an international network of genetic counselors who specialize in epilepsy genetics.

Ms. Sheidley was the lead author of a systematic review of the epilepsy genetics literature on behalf of the National Society of Genetic Counselors (NSGC) and co-authored the resulting practice guideline adopted by NSGC and endorsed by the AES. She is a Co-Investigator for the Gene-STEPS study at Boston Children’s, which enrolls infants with recent seizure onset for rapid whole genome sequencing.

https://www.linkedin.com/in/beth-rosen-sheidley-4994654/

Resources:

• Findageneticcounselor.org to search for a genetic counselor near you
• Rare Epilepsy Network (REN)
• Epilepsy Foundation

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