Reanalysis of diagnostic whole exome sequencing data in epilepsy

Takeaway

  • Reanalysis by the Epilepsy Genetics Initiative (EGI) of diagnostic whole exome sequencing (WES) data from previously unsolved epilepsy cases resulted in eight new genetic diagnoses.

Why this matters

  • Gene discovery in epilepsy evolves rapidly with potential treatment implications, highlighting the importance of periodic reanalysis of whole exome data.