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Clinical utility of exome sequencing in a pediatric epilepsy cohort.

Jordana L GraifmanNatalie C LippaMaureen S MulhernAmanda L BergnerTristan T Sands
Published in: Epilepsia (2023)
Results demonstrate the clinical utility of ES for individuals with epilepsy across multiple aspects of patient care, including anti-seizure medication (ASM) selection; screening for non-neurological comorbidities and referrals to appropriate medical specialists; referral to reproductive genetic counseling; and access to research, information, and support resources. To our knowledge, this is the first study to evaluate the clinical utility of ES for a pediatric epilepsy cohort with broad epilepsy phenotypes. This work supports the implementation of ES as part of clinical care in this population.
Keyphrases
  • healthcare
  • temporal lobe epilepsy
  • primary care
  • palliative care
  • single cell
  • gene expression
  • genome wide
  • pain management
  • young adults
  • cerebral ischemia
  • health insurance
  • hiv infected