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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 Thankappan
Published 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.
Keyphrases
  • intensive care unit
  • mechanical ventilation
  • case report
  • single cell
  • acute respiratory distress syndrome
  • gene expression
  • dna methylation
  • genome wide
  • temporal lobe epilepsy
  • high throughput sequencing