RESUMO
Introducción. La epilepsia es uno de los mayores trastornos neurológicos y afecta a alrededor del 0,5-2% de la población mundial. Se caracteriza por la aparición de crisis espontáneas y recurrentes. Se considera a la epilepsia del lóbulo temporal (ELT) como un síndrome adquirido multifactorial, que aparece como un efecto secundario a diferentes lesiones. Los avances realizados en biología molecular han facilitado la detección de numerosas alteraciones en genética molecular que pueden tener un efecto patógeno en las ELT. Recientemente, numerosos autores muestran evidencias de la existencia de componentes genéticos como origen de algunos tipos de ELT. Desarrollo. Se plantea como objetivo revisar las mutaciones y los polimorfismos relacionados con la epilepsia del lóbulo temporal que se han descrito en la literatura científica y su contribución a la fisiopatología de la epileptogénesis. Se revisan los genes LGI1, de la interleucina-1beta, de la prodinorfina, PRNP, el que codifica para el receptor GABAB tipo 1, SCN1A, SCN1B, KCNA1, KCND2 y ApoE. Conclusión. La ELT es una enfermedad compleja que puede depender tanto de la predisposición genética como de otros factores que contribuyen a su desarrollo. Es necesario realizar estudios funcionales para poder correlacionar su base molecular y su desarrollo (AU)
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 (AU)
Assuntos
Humanos , Epilepsia do Lobo Temporal/genética , Canais de Sódio/genética , Interleucina-1beta/genética , Príons/genética , Mutação/genética , Polimorfismo Genético , Canais Iônicos , Predisposição Genética para Doença , Mutação/genética , Polimorfismo Genético , Canais Iônicos , Predisposição Genética para DoençaRESUMO
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.
