Large-scale study of epilepsy copy number variation

This was a comprehensive study of copy number variation in epilepsy.¹ Copy number variations include various genetic changes, such as deletions and duplications, that can change the expression of genes thereby changing the downstream effects.¹

Reference:

1.Montanucci L, Lewis-Smith D, Collins RL, et al. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun 2023; 14 (1): 4392.