Identifying the pathological mechanism of childhood epilepsy and adolescent movement disorders caused by PRRT2 mutations
Dr James Hughes
The University of Adelaide
Epilepsy and movement disorders are highly debilitating conditions that together affect approximately 3% of individuals at some stage during life. Although many forms are inherited, the disease-causing gene is usually not known. We have recently solved a long standing mystery in this field, identifying that changes in the PRRT2 gene cause childhood seizures, migraine and movement disorders. The aim of this project is to understand how genetic changes in PRRT2 affect brain activity using neuronal and behavioral analyses of a mouse model of PRRT2-disease.