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Published on: June 6, 2025
Implications for families of advances in understanding the genetic basis of epilepsy
Carrie L Hammond1, Rhys H Thomas, Mark I Rees
1Institute of Life Sciences, School of Medicine, Swansea University, SA2 8PP, UK. Carrie.Hammond@gstt.nhs.uk
Abstract:
Investigations into families with a large number of individuals with epilepsy have led to the discovery of epilepsy-causing (or epilepsy associated) gene mutations. These discoveries offer advantages and insights for the patient, family, healthcare professionals and biomedical scientists. Despite these benefits, there is little evidence about the impact of participation in genetic research for families with epilepsy. Here we report on the reflections of individuals who have participated in epilepsy genetic research through the Wales Epilepsy Research Network (WERN). Undergoing genetic investigation for inherited epilepsy has extensive emotive impact, both positive and negative, on individuals and families. Recognising these impacts is imperative to researchers working with families; having implications for study design, research consent and the provision of appropriate support.
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