title: [Epileptic channelopathies].
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.
  
  
  METHODS
  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 dependent, 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.
authors: Servicio de Neuropediatría, Hospital Clínico Universitario San Carlos, Madrid, España. jcampos@hcsc.insalud.es
authors: J
authors: J
authors: Campos-Castelló
authors: M
authors: M
authors: Canelón de López
authors: S
authors: S
authors: Briceño-Cuadros
authors: I
authors: I
authors: Villalibre-Valderrey
mesh_terms: D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004827:Epilepsy / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007473:Ion Channels / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: D007473:Ion Channels; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor; C436489:CHRNA2 protein, human; C579167:Chrna7 protein, human