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Neurogenetics of Epilepsy 

Neurogenetics of Epilepsy
Chapter:
Neurogenetics of Epilepsy
Author(s):

Renzo Guerrini

and Elena Parrini

DOI:
10.1093/med/9780199659043.003.0002
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date: 17 January 2020

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.

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