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Recent aspects of the genetics of epilepsy

C. Casas-Fernández DOI: https://doi.org/10.33588/rn.30S1.2000135 OPEN ACCESS
Volumen 30 | Number S1 | Nº of views of the article 4.233 | Nº of PDF downloads 630 | Article publication date 16/06/2000
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ABSTRACT Artículo en español English version
Introduction. In recent years major advances have been made in localizing the genes responsible for different types of epilepsy. This progress has been determined, amongst other things, by the discovery of diverse genotypes which do not always correspond to the same phenotype, a fact which has opened interesting fields of investigation. However, all these advances make it necessary to restructure the current classification of the epilepsies and epileptic syndromes of the International League Against Epilepsy (ILAE), in which the new syndromes which have now been identified were not contemplated, in spite of having clearly defined characteristics. Development. The new approach to the genetics of epilepsy and the progress which, no doubt, will be made in the future will lead to a new attitude not only regarding diagnostic protocols, in which it will be necessary to know all the possible variations of the phenotypes of the different syndromes identified, but also the relevant considerations regarding genetic counselling, programmes of treatment and preventive measures which will have to be undertaken. We discuss the genetic aspects of different epileptic disorders, including those classically considered to be of idiopathic origin, to those of symptomatic origin whether due to structural changes in the nervous system or metabolic diseases with epileptic features at some stage of the condition. Five categories are established following these different criteria: 1. Idiopathic generalized epilepsies, 2. Partial epilepsies, 3. Progressive myoclonic epilepsies, 4. Dysgenetic syndromes and chromasome anomalies and 5. Metabolic diseases. KeywordsDysgenetic syndromesGenotypeIdiopathic generalized epilepsiesMetabolic diseasesPhenotypeProgressive myoclonic epilepsies Partial epilepsies CategoriesEpilepsias y síndromes epilépticosTécnicas exploratorias
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