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.

• Authors: Amal Yussuf; Zöe Powis; Kirsten Blanco; Jing Wang
• Conference: AAN 2017
• Date: Sunday, Apr 23, 2017 4:00pm - 5:30pm