IMR Press / FBL / Volume 13 / Issue 8 / DOI: 10.2741/2917

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Genetic etiology of new forms of familial epilepsy
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1 The First Affiliated Hospital, Chongqing Medical University, Chongqing 400016, People’s Republic of China

*Author to whom correspondence should be addressed.

Academic Editor: John Zhang

Front. Biosci. (Landmark Ed) 2008, 13(8), 3159–3167;
Published: 1 January 2008
(This article belongs to the Special Issue New frontiers in neurosurgery research)

Epilepsy is a common neurological disorder with an incidence of approximately 0.5%. In order to develop better strategies for treatment of epilepsy, more insight on the etiology and pathogenesis of epilepsy is required. In 2001, based on the diagnostic scheme of the International League Against Epilepsy, three new forms of familial epilepsy were identified. These include familial temporal lobe epilepsy, familial focal epilepsy with variable foci, and generalized epilepsy with febrile seizure plus. Mutation of a distinct set of genes has been reported in several forms of epilepsy. Mutation of LGI1 gene has been identified in familial lateral temporal lobe epilepsy while mutations of genes which encode sodium channels and GABAA receptors have been reported in generalized epilepsy with febrile seizure plus. However, no disease-causing gene has yet been found in families with familial mesial temporal lobe epilepsy or those with familial focal epilepsy with variable foci. Here, we review the genetic background of these three familial epilepsy syndromes, and provide a better insight on their genetic etiology.

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