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.