Serratosa J M
Unidad de Epilepsia, Fundación Jiménez Díaz, Madrid, España.
Rev Neurol. 1999;28(1):56-60.
Recent advances in mapping and isolating human epilepsy genes are having an increasing importance in the field of epileptology.
As the molecular bases of the genetic epilepsies are elucidated, more precise diagnoses and therapies are possible. Characterization of the genes responsible for several types of epilepsy will allow the clinician to increase diagnostic precision, offer more exact prognoses, and develop more efficient therapies. At the same time, the search for families with several affected members with some form of epilepsy has lead to the description of previously unnoticed epilepsies and epileptic syndromes. Both the precision in diagnosis and the description of new epilepsy syndromes should be of major importance for the development of the next version of the International Classification of Epilepsies and Epileptic Syndromes. Understanding the pathogenic mechanisms involved in different epilepsies may allow the rational development of 'design' antiepileptic drugs and, in the case of the poor-prognosis progressive myoclonus epilepsies, effective gene therapy treatments. Finally, the possibility of offering prenatal diagnosis and genetic counseling to families exposed to some forms of epilepsy may reduce their incidence in the future.
在绘制和分离人类癫痫基因方面的最新进展在癫痫学领域正变得越来越重要。
随着遗传性癫痫的分子基础被阐明，更精确的诊断和治疗成为可能。对几种类型癫痫相关基因的特征描述将使临床医生能够提高诊断精度，提供更准确的预后，并开发更有效的治疗方法。同时，对有多名成员患某种形式癫痫的家庭进行研究，已发现了一些之前未被注意到的癫痫和癫痫综合征。诊断的精确性和新癫痫综合征的描述对于下一版《国际癫痫及癫痫综合征分类》的制定都应具有重要意义。了解不同癫痫所涉及 的致病机制可能有助于合理开发“设计型”抗癫痫药物，对于预后不良的进行性肌阵挛癫痫，还可能实现有效的基因治疗。最后，为患有某些形式癫痫的家庭提供产前诊断和遗传咨询的可能性，可能会在未来降低其发病率。
