lunes, 28 de noviembre de 2011

Genetics of temporal lobe epilepsy

Su-Kyeong Hwang, Shinichi Hirose Corresponding Author Contact Information, E-mail The Corresponding Author

Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan


The most common partial epilepsy, temporal lobe epilepsy (TLE) consists of a heterogeneous group of seizure disorders originating in the temporal lobe.

TLE had been thought to develop as a result of acquired structural problems in the temporal lobe.

During the past two decades, there has been growing evidence of the important influence of genetic factors, and familial and non-lesional TLE have been increasingly described.

Here, we focus on the genetics of TLE and review related genes which have been studied recently.

Although its molecular mechanisms are still poorly understood, TLE genetics is a fertile field, awaiting more research.

Keywords: Temporal lobe epilepsy; Genetics; Mutation; ADLTE; FMTLE; FPEVF
Article Outline

1. Introduction
2. Autosomal dominant lateral temporal lobe epilepsy (ADLTE)
2.1. LGI1: the only confirmed causal gene for ADLTE
3. Familial mesial temporal lobe epilepsy (FMTLE)
3.1. A number of candidate genes and loci have been suggested
3.2. FMTLE with hippocampal sclerosis
3.3. FMTLE with febrile seizures
3.4. Genetic markers for pharmacoresistant MTLE
4. Familial partial epilepsy with variable foci (FPEVF)
4.1. Two loci for FPEVF have been identified
5. Animal experiments
6. Gene therapy
7. Discussion
8. Summary

Corresponding Author Contact InformationCorresponding author. Address: Department of Pediatrics, School of Medicine, Fukuoka University, 45-1, 7-chome Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan. Tel.: +81 92 801 1011; fax: +81 92 862 6955.

Fuente: Brain and Development
Available online 20 November 2011.

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