[Clinical aspects of epileptic ion channel disorders].
OBJECTIVE
One of the recent findings in the investigation of epileptogenesis is the localization of new gene situses and mutations of the ion channels. The pathology of these ion channel disorders is responsible for a considerable number of disorders affecting the central nervous and musculoskeletal systems. Their clinical expression is often paroxystic. Mutations cause inactivation of the channel, which depending of the degree, conditions the phenotype of the disorder.


METHODS
We studied the main ion channel disorders related to simply inherited idiopathic epileptic syndromes in which four genes have been codified to date: benign familial neonatal convulsions, generalized epilepsy with febrile seizures plus and autosomal dominant nocturnal frontal lobe epilepsy.


CONCLUSIONS
The ion channels, both voltage dependent and receptor channels, are involved in the genesis of idiopathic epileptics syndromes. Their importance is due to their contribution to the understanding of epileptogenesis and its application to the investigation of drugs which modify the initial cause of the seizure. At present, it may be affirmed that the idiopathic epilepsies, or at least some of them, seem to form a family of ion channel disorders.
Campos-Castelló
J
J
Servicio de Neuropediatría, Hospital Clínico Universitario San Carlos, Madrid, España. jcampos@hcsc.insalud.es
Canelón de López
M
M
García-Fernández
M
M
D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics
D007473:Ion Channels