Login / Signup

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Naeimeh TayebiBrian Leon-RicardoKevin McCallElvisa MehinovicKristin EngelstadVincent HuynhTychele N TurnerJudy WeisenbergLiu L ThioPaul HruzRobin Simon Brooke WilliamsDarryl C De VivoVincent PetitGabe HallerChristina A Gurnett
Published in: Annals of clinical and translational neurology (2023)
Cell growth is useful to quantitatively determine the functional effects of SLC2A1 variants. Nonsense variants were reliably distinguished from benign variants in this in vitro functional assay. For facilitating early diagnosis and therapeutic intervention, future work is needed to determine the functional effect of every possible variant in SLC2A1.
Keyphrases
  • copy number
  • randomized controlled trial
  • high resolution
  • case report
  • dna methylation
  • current status
  • replacement therapy
  • tandem mass spectrometry
  • solid phase extraction
  • simultaneous determination