The clinical impact of rapid genome sequencing of infants with new-onset epilepsy.
By Neha MathurAug 22 2023Reviewed by Lily Ramsey, LLM In a recent study published in the Lancet Neurology, researchers evaluated the clinical impact of rapid genome sequencing of infants with new-onset epilepsy using their biological parents as probands.
So far, studies have demonstrated a high diagnostic yield of rapid genome sequencing, primarily in infants admitted to neonatal intensive care units . However, evidence of its utility for prompt genetic diagnoses in infants from inpatient settings with epilepsy has not been established. They also harmonized study protocols across all sites to strengthen the generalizability of the study findings.
Magnetic resonance imaging revealed that 11% of infants had a malformed cerebral cortex, and many infants showed developmental delays after seizure onset.