Revisión

Epileptic channelopathies

J. Campos-Castelló, M. Canelón de López, S. Briceño-Cuadros, I. Villalibre-Valderrey [REV NEUROL 2002;34:145-149] PMID: 11988909 DOI: https://doi.org/10.33588/rn.3402.2001239

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Volumen 34 | Number 02 | Nº of views of the article 12.727 | Nº of PDF downloads 1.858 | Article publication date 16/01/2002

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ABSTRACT

OBJECTIVE. At the present time the study of epileptogenesis is becoming increasingly interested in the function of ionic channels in which localization of new gene sites and mutations have been aetiopathogenically related to certain syndromes involving epilepsy. The pathology of these channels known as channelopathies is responsible for a certain number of conditions affecting the central nervous and neuromuscular systems. Its clinical expression is often paroxystic. The mutations cause inactivation of the channel, which depending on the degree, conditions the phenotype of the process. DEVELOPMENT. We studied the main epileptic channelopathies related to idiopathic epilepsy syndromes. To date it has been possible to codify four genes responsible for: benign familial neonatal convulsions, generalized epilepsy with febrile convulsions plus and frontal lobe nocturnal dominant autosomal epilepsy, together with other syndromes in which potentially related mutations have arisen.

CONCLUSIONS Ionic channels, both voltage and receptor dependant, are involved in the genesis of idiopathic epilepsy syndromes. Their importance is due to the contribution made to understanding epileptogenesis and the application of this in the investigation of drugs which act by modifying the initial cause of the seizure. Today it may be said that the idiopathic epilepsies, or at least some of them, make up a family of channelopathies. KeywordsBenign familial neonatal convulsions Channelopathies Epilepsy Frontal lobe nocturnal dominant autosomal epilepsy Generalized epilepsy with febrile convulsions plus Genetics CategoriesEpilepsias y síndromes epilépticos

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Epileptic channelopathies