We propose to perform functional studies on a large series of KCNB1 mutations associated with EIEE26 in order to characterize the range of functional defects and define genotype-phenotype relationships. In addition, we will develop and characterize murine models of EIEE26 in order to better understand how KCNB1 mutations lead to epilepsy. Finally, we will determine how genetic background effects influence disease severity in mouse models. The results of these studies will provide insight into the molecular basis epileptic encephalopathy and suggest novel pathways for therapeutic intervention.
|Effective start/end date||3/1/16 → 2/28/21|
- National Institute of Neurological Disorders and Stroke (5R01NS053792-17)