Case study demonstrates triogenome sequencing identifies KCNQ2 mutation in a newborn, suggesting effective targeted therapy.
Severely sick newborns with unexplained symptoms are clinically challenging, and acute triogenome sequencing is now an option. We describe a newborn girl who developed drug-resistant severe seizures of unknown origin. Genetic testing revealed a pathogenic variation in the KCNQ2-gene, known to predict epilepsy with treatment difficulties. Targeted treatment with oxcarbazepine was started, resulting in seizure control and normal development. The case underscores the potentially positive outcome with early genetic testing and targeted treatment.
No takes yet. Share an insight, caveat, or question.
Yücelbas et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: