Understanding the contribution of parental mosaicism to the causes of childhood genetic epilepsies.
Dr Sarah Heron
University of South Australia
This project will help to accurately define the frequency of somatic mosaicism, that is, the presence of a mutation in only some of the cells in the body, in three genes causing childhood epilepsies (SCN1A, KCNT1 and DEPDC5). Somatic mosaicism can lead to the birth of multiple children with a genetic disorder, even if the parents are unaffected, but is not readily detectable. The data to be gained from this study will improve genetic counselling for affected families by enabling more accurate prediction of the risk of the birth of another affected child.