Genetics of epilepsy: epilepsy research foundation workshop report

Sisodiya, S., Cross, J. H., Blumcke, I., Chadwick, D., Craig, J., Crino, P. B., Debenham, P., Delanty, N., Elmslie, F., Gardiner, M., Golden, J., Goldstein, D., Greenberg, D. A., Guerrini, R., Hanna, M., Harris, J., Harrison, P., Johnson, M. R., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Kullman, D. M., Makoff, A., Marini, C. and Nabbout, R. N. 2007. Genetics of epilepsy: epilepsy research foundation workshop report. Epileptic Disorders 9 (2) , pp. 194-236.

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Abstract

The Sixth Epilepsy Research Foundation workshop, held in Oxford in March 2006, brought together basic scientists, geneticists, epidemiologists, statisticians, pharmacologists and clinicians to consider progress, issues and strategies for harnessing genetics to improve the understanding and treatment of the epilepsies. General principles were considered, including the fundamental importance of clear study design, adequate patient numbers, defi ned phenotypes, robust statistical data handling, and follow-up of genetic discoveries. Topics where some progress had been made were considered including chromosomal abnormalities, neurodevelopment, hippocampal sclerosis, juvenile myoclonic epilepsy, focal cortical dysplasia and pharmacogenetics. The ethical aspects of epilepsy genetics were reviewed. Principles and limitations of collaboration were discussed. Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer Verlag
ISSN:	1294-9361
Last Modified:	31 Oct 2022 09:58
URI:	https://orca.cardiff.ac.uk/id/eprint/83105

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