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Implications for families of advances in understanding the genetic basis of epilepsy

Hammond, Carrie Louise, Thomas, Rhys Huw ORCID:, Rees, Mark I., Kerr, Michael Patrick and Rapport, Frances 2010. Implications for families of advances in understanding the genetic basis of epilepsy. Seizure - European Journal of Epilepsy 19 (10) , pp. 675-679. 10.1016/j.seizure.2010.10.022

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: Epilepsy; Genetic; Family; Case study; Qualitative research
Publisher: Elsevier
ISSN: 1059-1311
Last Modified: 06 Dec 2022 09:41

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