Show Summary Details
Page of

Neurogenetics of Epilepsy 

Neurogenetics of Epilepsy
Neurogenetics of Epilepsy

Renzo Guerrini

and Elena Parrini

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2022. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 02 July 2022

Genetic research in epilepsy represents an area of great interest for both clinical purposes and for understanding the mechanisms underlying epilepsy. In the past, genetic studies on families and twins contributed to the definition of genetic epilepsy, and especially to the evaluation of the risk of familial occurrence. In 1995, the first mutation in the gene coding for the nicotinic acetylcholine receptor was identified in a family with autosomal dominant nocturnal frontal lobe epilepsy. The subsequent identification of new epilepsy genes has greatly improved our understanding the pathophysiological mechanisms underlying epilepsy and has favoured research into experimental models and new therapeutic strategies. A targeted molecular diagnosis is now available for different forms of epilepsy. Ethical problems may arise especially in asymptomatic mutation carriers or in individuals and families in which although mutations of specific genes have been identified, severity of the associated phenotype is unpredictable.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.