Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.

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This study found that genetic copy number variants (CNVs) — like the deletions and duplications seen in 16p11.2 — were identified in nearly 5% of children with severe, hard-to-treat epilepsy (infantile spasms or Lennox-Gastaut syndrome), helping families understand how genetic testing from exome sequencing can uncover the cause of their child's seizures.