The genomic landscape of epileptogenic brain lesions


  • New insights into the genomic landscape of lesional epilepsies have yielded 4 novel candidate genes: NRAS, KRAS, NF1, and PTPN11 and other potentially pathogenic somatic copy number variants.

Why this matters

  • Epilepsy-associated brain lesions are typically studied with targeted sequencing. This approach does encompass mutational signatures across the whole exome or genome.

  • This new knowledge will inform the design of gene panels for diagnostic screening, and guide the development of gene-based therapies.