Natural History Study

KCNQ2 Natural History Study

Principal Investigator: Annapurna Poduri, MD, MPH
Epilepsy Genetics Program, Boston Children’s Hospital

Brief Description:
The Epilepsy Genetics Program (led by Dr. Ann Poduri) is conducting research to better understand the genetic underpinnings contributing to epilepsy syndromes including Ohtahara syndrome, infantile spasms, early infantile epileptic encephalopathy, Dravet syndrome, Doose syndrome, etc. A major focus of Dr. Poduri’s research has been KCNQ2-related epilepsy. Through grant funding provided by the KCNQ2 Cure Alliance, Dr. Poduri’s research will be focusing additional effort into investigating the neurodevelopmental role of KCNQ2 in cellular and animal models. We will continue our existing work and partnership with the KCNQ2 research community, including the RIKEE variant database (through Dr. Ed Cooper’s laboratory at Baylor University).

Eligibility:
We are enrolling individuals with KCNQ2-related epilepsy and neurodevelopmental disorders and potentially additional family members.

Participation Details:
Participation includes reviewing consent materials with a member of the study staff, providing access to existing medical records and completion of a medical/developmental history questionnaire. All enrollment and participation steps can be completed remotely and do not require visits to Boston Children’s Hospital.

How to Contact Us:
Please send an email to epilepsygenetics@childrens.harvard.edu or call 617-355-5254 and provide your name and the best way to reach you (email and/or phone number).