The future structure of genetic services for inherited epilepsy
Genetic counsellor studying for a PhD at the University of Wales in Swansea
Investigations into large epilepsy families have led to the discovery of new epilepsy genes. This is important because it offers several benefits: for the patient there is an explanation for the epilepsy condition; for the family there is an opportunity to determine whether anyone else may be at risk for the same disorder; and for the scientist there are new clues into the biological basis of epilepsy. But what is the impact on these families of participating in genetic investigation and research? What is their experience of having inherited epilepsy? And what can we learn from these families to encourage services to be developed that most appropriately meet patient need and expectation? This research will address these important questions through an in-depth case study of one large epilepsy family.