On Oct. 3, 2024, scientists announced the largest whole-exome sequencing study of epilepsy to date, with more than 54,000 human exomes, to investigate rare variants that confer disease risk. These analyses implicated seven individual genes, three gene sets and four copy number variants at exome-wide significance.

An exome is the sequence of all the exons in a genome, reflecting the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome. The researchers also identified a shared rare variant risk between epilepsy and other neurodevelopmental disorders. The study was published in Nature.