Archived AES Symposia 2006
Annual Fundamentals of Epilepsy: Genetics 101
Program Length: 2 hrs 18 min
This session will provide education for practicing epileptologists about current findings in the genetics of epilepsy. The goal is to explain 1) what we currently know about genes that influence risk for epilepsy, 2) how this information was obtained (i.e., what research approaches were used), 3) what the most important research topics are for the near future, and 4) what implications these findings have for clinical practice. Speakers will address topics in clinical and molecular aspects of genetic research on the epilepsies, pharmacogenomics, and the clinical relevance of this research, with attention to the question of genetic testing.
At the conclusion of this activity, participants should be able to:List the genes that have been identified in monogenic epilepsy syndromes and describe the syndromes that have been found to be associated with mutations in these genes State the range of risks to the offspring of a person with idiopathic generalized epilepsy, cryptogenic localization-related epilepsy, or symptomatic epilepsy Define one clinical application of a research finding in pharmacogenomics Identify the mechanism by which SCN1A influences risk for epilepsy.
Physicians (neurologists, pediatricians, primary care physicians), nurses (epilepsy care specialists, nurse practitioners), neuropsychologists and basic scientists.
Chair: Ruth Ottman, Ph.D.
Introduction and Goals of the Session
Ruth Ottman, Ph.D.
Gene Discoveries in the Epilepsies
Ingrid E. Scheffer, M.B.B.S., Ph.D., FRACP
What Do We Tell Families?
Melodie R. Winawer, M.D., M.S.
Ion Channels – Molecular Aspects
Andrew Escayg, Ph.D.
Pharmacogenomics: Promises and Challenges
Russell J. Buono, Ph.D.
Disclaimer: Opinions expressed with regard to unapproved uses of products are solely those of the faculty and are not endorsed by the American Epilepsy Society or any manufacturers of pharmaceuticals.