Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.
Jonathan LoVoiDon Q ThaiJennifer HanSophia WangMakeda AgonaferBaburaj ThankappanPublished in: Neurology. Genetics (2024)
Whole-exome sequencing is a fast and cost-effective means to diagnose rare neurologic disease in critically ill patients and can uncover treatment options. While primarily used in the neonatal ICU, appropriately selected adult patients may also benefit.