Neurology

Session # 2.165

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

  • 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.

  • Authors: Heather Newman; Brian Schoenfeld; Elaine C. Weltmer; Michael Osborne; Jing Wang; S Wolf; P McGoldrick; S Lakhani; S Merchant
  • Collaborators: Weill Cornell
  • Conference: American Epilepsy Society (AES)
  • Date: Sunday, Dec 03, 2017 10:00am - 4:00pm

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