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Targeted Genetic Testing of Sixteen Epilepsy Genes with Known Therapeutic Associations: High Mutation Frequency Rate and Impact on Clinical Management

Session:
#2
Date:
Sunday, Dec 3, 2017 10:00am – 4:00pm
Conference:
AES 2017
Authors:
Brian Schoenfeld, Elaine C. Weltmer, Heather Newman, Jing Wang, Michael Osborne, P McGoldrick, S Lakhani, S Merchant, S Wolf
Collaborators:
  • Positive findings are detected in the sixteen genes included in the EpiRapid panel at a substantially higher frequency (80%) than positive findings detected in other genes not included on the EpiRapid pane(20%).
  • These sixteen genes are all known to be associated with reported therapies and/or AEDs, which means a positive result has the potential to directly impact clinical management.
Abstract