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Dural Venous Sinus Thrombosis and Papilledema Related to JAK2 Mutation: A Case Series.

Laura DonaldsonArjan S DhootEdward A Margolin
Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2021)
A significant proportion of patients with papilledema secondary to DVST will harbor mutations in the JAK2 gene. Clinicians should be aware of this mutation as early testing will facilitate timely diagnosis and treatment of myeloproliferative disease to improve prognosis and reduce risk of recurrent thrombotic events.
Keyphrases
  • pulmonary embolism
  • copy number
  • gene expression
  • transcription factor