Serratosa J M
Unidad de Epilepsia, Fundación Jiménez Díaz, Madrid.
Neurologia. 1996 Dec;11 Suppl 4:53-7.
Until recently, research in the field of genetics of the epilepsies had mainly focused on the idiopathic generalized epilepsies and the progressive myoclonic epilepsies. Interest in the genetics of the partial epilepsies has now increased due to the identification of several forms of partial epilepsies with a strong genetic component. The genetic partial epilepsies appear to be more common than expected and each description of a new syndrome is followed by reports of more patients and families. Understanding the clinical and genetic characteristics of the new familial partial epilepsy syndromes and identifying informative families will accelerate the discovery of the basic mechanisms implicated in the production of partial seizures. The recent description of the syndrome of autosomal dominant nocturnal frontal lobe epilepsy, its localization to chromosome 20, and the identification of the responsible gene and mutation in the alpha 4 subunit of the nicotinic cholinergic receptor in an Australian family are a good example. Future discoveries in the genetics of the partial epilepsies will have important diagnostic, prognostic and therapeutic implications and will allow us to apply more specific treatments for each syndrome, offer a prognosis to patients and develop novel forms of therapy.
直到最近,癫痫遗传学领域的研究主要集中在特发性全身性癫痫和进行性肌阵挛癫痫。由于发现了几种具有强大遗传成分的局灶性癫痫,现在人们对局灶性癫痫的遗传学兴趣有所增加。遗传性局灶性癫痫似乎比预期的更为常见,每一种新综合征的描述之后都会有更多患者和家庭的报道。了解新型家族性局灶性癫痫综合征的临床和遗传特征,并识别出有参考价值的家系,将加速发现与局灶性发作产生相关的基本机制。常染色体显性遗传性夜间额叶癫痫综合征的最新描述、其在20号染色体上的定位,以及在一个澳大利亚家系中发现烟碱型胆碱能受体α4亚基的致病基因和突变,就是一个很好的例子。局灶性癫痫遗传学方面的未来发现将具有重要的诊断、预后和治疗意义,并将使我们能够针对每种综合征应用更具特异性的治疗方法,为患者提供预后评估,并开发新的治疗形式。