Suppr超能文献

[Epileptic channelopathies].

作者信息

Campos-Castelló J, Canelón de López M, Briceño-Cuadros S, Villalibre-Valderrey I

机构信息

Servicio de Neuropediatría, Hospital Clínico Universitario San Carlos, Madrid, España.

出版信息

Rev Neurol. 2002;34(2):145-9.

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 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.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验