Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

For: All,

This large-scale study analyzed genetic copy number variants (CNVs) in over 741,000 people and found that changes at the 16p11.2 region—both deletions and duplications—are significantly linked to seizures and epilepsy, helping families understand why seizures may be part of their child's 16p11.2 diagnosis.