Neurogenetics of Epilepsy

Renzo Guerrini and Elena Parrini

in Oxford Textbook of Epilepsy and Epileptic Seizures

Published on behalf of Oxford University Press

Published in print December 2012 | ISBN: 9780199659043
Published online December 2012 | e-ISBN: 9780191751363 | DOI:

Series: Oxford Textbook of

Neurogenetics of Epilepsy

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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.

Chapter.  12550 words.  Illustrated.

Subjects: Neurology

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