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Genetics components in patients with temporal lobe epilepsy

I. Herrera-Peco, V. Fernández-Millares, J. Pastor, V. Hernando-Requejo, R. García-Sola, M.C. Alonso-Cerezo [REV NEUROL 2009;49:541-546] PMID: 19859879 DOI: https://doi.org/10.33588/rn.4910.2009165

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Volumen 49 | Number 10 | Nº of views of the article 5.520 | Nº of PDF downloads 1.191 | Article publication date 15/11/2009

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ABSTRACT

INTRODUCTION Epilepsy is one of the major neurological disorders characterized by spontaneous and recurrent seizures. Traditionally temporal lobe epilepsy (TLE) was considered as a multifactorial syndrome due to environmental factors. Advances in molecular biology have facilitated the detection of many genetic alterations that may have a pathogenic effect in ELT. Recently, many authors show evidence about the existence of genetic components as the source of some types of ELT. DEVELOPMENT. This review aims to provide an overview of mutations and polymorphisms associated with temporal lobe epilepsy, which have been described in scientific literature and its contribution to the pathophysiology of epileptogenesis. We have reviewed the following genes; LGI1, PDYN (prodynorphin), interleucine 1beta, PRPN (prion protein), ApoE (apolipoprotein E), GABBR1, SCN1A, SCN1B, KCNA1, KCND2. CONCLUSION. The ELT is a complex disease and its development could depend on either genetics factors or other factors. Functional studies are necessary in order to correlate its molecular basis and their development. KeywordsIonic channels Molecular genetic Mutations Polymorphisms Temporal lobe epilepsy CategoriesEpilepsias y síndromes epilépticos

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Genetics components in patients with temporal lobe epilepsy