In this project, we recruit families with multiple members who have seizures or epilepsy.
These families help us to identify novel familial epilepsy syndromes and their molecular basis.
Families that have multiple people affected by epilepsy, whether or not they appear to have the same syndrome, often have a shared genetic cause.
A comprehensive study of each family member's clinical details is carried out. Similarities and differences between family members with epilepsy are determined, and a model is proposed for the mode of inheritance.
Certain family members are then selected for analysis using molecular genetic methodologies, and with this information, novel genetic discoveries are made.
Pictured: Two examples of multi-generational family pedigrees with varying types of epilepsy. We look at the genetics of the affected and unaffected individuals and look for genetic changes shared by only the affected.