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