Gourfinkel-An I, Baulac S, Nabbout R, Brice A, Baulac M, Leguern E
Unité d'Epileptologie, Hôpital Pitié-Salpêtrière, Paris, France.
Rev Neurol (Paris). 2004 May;160(5 Pt 2):S90-7. doi: 10.1016/s0035-3787(04)71011-5.
Major advances have recently been made in the understanding of the genetic bases of monogenic inherited epilepsies. For several idiopathic epilepsies, mutations in genes encoding subunits of ion channels or ligand receptors have been demonstrated. This is the case for some generalized idiopathic epilepsies and generalized epilepsies associated with febrile seizures. In this Article, we review the recent clinical and genetic data of these forms of epilepsy.
最近在单基因遗传性癫痫的遗传基础理解方面取得了重大进展。对于几种特发性癫痫,已经证实了编码离子通道或配体受体亚基的基因突变。一些全身性特发性癫痫和与热性惊厥相关的全身性癫痫就是这种情况。在本文中,我们回顾了这些癫痫类型的最新临床和遗传数据。