[Epileptic channelopathies]. / Canalopatías epilépticas.

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 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.

[Ischemic and hemorrhagic cerebral vascular accidents in the full-term newborn infant. Study protocol and therapeutic directions]. / Accidentes vasculares isquémicos y hemorrágicos cerebrales del recién nacido a término. Protocolo de estudio y orientaciones terapéuticas.

OBJECTIVE: Ischemic and hemorrhagic cerebral vascular accidents in newborn are an important component in the determination of neonatal morbidity and mortality. The frequency is 1-2% for each condition. The etiopathogenesis is closely related to hypoxemia and ischemia in ischemic accidents and to traumatic birth in hemorrhagic accidents. Identification of the forms of clinical presentation with the help of neuroimaging and other complementary diagnostic investigations is the first step before prophylactic and/or therapeutic treatment. DEVELOPMENT: Based on integrated physiopathological models, we establish the anatomopathological patterns which permit the definition of clinical forms of hypoxia-ischemia, and also establishment of the topographical classification of hemorrhages according to their site, as subarachnoid, subdural, intraventricular, cerebellar or intraparenchymatous, together with their pathological study, clinical presentation and diagnosis of lesions at each of these sites, emphasising the importance of neuroimaging and the therapeutic possibilities. CONCLUSIONS: The diagnostic approach that we suggest allows etiopathogenic and therapeutic decisions which determine improved prognosis and often even cure at the present time. The basic principles of a therapeutic protocol should be based on monitorization of the newborn baby during the acute phase. There should be close observation of the arterial blood pressure, temperature, biochemical parameters, treatment of seizures and the possibility of correction within the 'therapeutic window' of reperfusion and subsequent recovery of cerebral tissue involved by using mechanisms of neuroprotection.

[Clinical aspects of epileptic ion channel disorders]. / Aspectos clínicos de las canalopatías epilépticas.

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. DEVELOPMENT: 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.