Rare Epilepsy Partnership Award

Reconstructing the Longitudinal Disease History in SCN8A-Related Disorders

Jillian McKee, MD, PhD
The Children's Hospital of Philadelphia

Genetic mutations in the gene SCN8A (Sodium channel protein type 8 subunit alpha) can result in early-onset developmental and epileptic encephalopathies. The SCN8A gene codes for a part of the sodium channel Nav1.6 which is essential for the proper functioning of neurons. Although many disease-causing variants in the SCN8A gene have been identified to date, the clinical impact of these on the progression of the disease has not been studied extensively.

Dr. McKee’s project aims to understand the natural history and genetics of SCN8A-related disorders. Her team will use data from electronic medical records (EMR) to understand the full range of clinical features over time. Through analysis of this data the team proposes to identify previously unknown clinical subgroups, disease courses, and medication responses, to improve clinical care, medication choice, and aid in the design of clinical trials and targeted therapies.

In partnership with The Cute Syndrome Foundation.


This grant is sponsored by the Robert Withrow Wier Fund.