Session # 234

Many testing roads can lead to KCNQ2 diagnosis.

  •  Patients with KCNQ2 alterations tested by DES had a more complex medical history than those tested by MGPT.
  •  Patients with a more complex phenotype may benefit DES testing to avoid a long diagnostic journey, while others may benefit from direct MGPT testing.
  •  Although ~10% of pathogenic KCNQ2 variants have been reported to be de novo, our findings suggest the de novo rate is higher than previously reported.

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