Back to Posters

Many testing roads can lead to KCNQ2 diagnosis.

Session:
#234
Date:
Sunday, Apr 23, 2017 4:00pm – 5:30pm
Conference:
AAN 2017
Authors:
Amal Yussuf, Jing Wang, Kirsten Blanco, Zöe Powis
  •  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.
Abstract Poster