The key of epilepsy can be in LGI1/Epitempina gene

Researchers of the Hospital of San Sebastian and the Biomedicine Institute of Valencia have discovered the genetic basis of hereditary epilepsy. The work leaded by the researchers Adolfo Lopez de Munain and Jordi Perez Tur has analysed the effect of the gene called LGI1/Epitempina.

Temporal lateral epilepsy is the type of epilepsy that affects the side of the brain. The main characteristic of this type of epilepsy is that patients hear some noises before they lose consciousness. Many researcher have located in the 10q24 chromosome the gene related to this disorder. Now, after an immuno-historic research of two families of three generations, they have proved that LGI1 protein has a significant effect in this type of hereditary epilepsy. Moreover, this gene affects the synapse, that is, the connection between neurons. This fact contrasts with other genes responsible of some other hereditary epilepsies which usually affect nerve impulses, because they are receptors of neurotransmitters or ionic canals.

In order to understand the meaning of this discovery, it is necessary to know that epilepsy is not a single disorder, but a set of disorders. This set of disorders causes seizures by common mechanisms. The way to fight against epilepsy is to understand those mechanisms and to use medicines to stop them. The gene called LGI1/Epitempina uses a mechanism which was unknown until now to cause epileptic seizures. Knowing this mechanism is a way to cure other types of epilepsy apart from temporal lateral epilepsy. It must be considered that 80% of epilepsy cases can be treated, but for the rest 20 % there is no adequate medicine. Therefore, any discovery that allows to understand the functioning of epilepsy gives the opportunity to develop new medicines and cures.

Epilepsy is the most common disorder of neurological origin; in fact, 1 % of the population suffers this disorder. A research carried out some years ago stated that 40% of epilepsy cases are hereditary. Nowadays it is believed that this percentage is higher, as in most of the cases epilepsy has genetic components and that makes it hereditary. However, it is not just the case of epilepsy, usually all diseases have a genetic basis. The fact to have this genetic basis does not mean that people with this hobbled gene will necessarily develop the disorder, but that they have more possibilities to develop it.

During the 7 years in which has been carried out the research, scientists of the Basque Country, Italy, Greece, Germany and United Kingdom have participated. The result of the research has been published in the well-known magazine Human Molecular Genetics, in the issue of May, but authors have stated that there is still a long way to go until knowing the mechanism of LGI1/Epitempina.

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