Bing F, Dananchet Y, Vercueil L
Département de Neurologie, CHU Grenoble, Grenoble.
Rev Neurol (Paris). 2005 Sep;161(8-9):817-22. doi: 10.1016/s0035-3787(05)85140-9.
The boundary between epilepsy and paroxysmal dyskinesia appears to be less easy to delineate than previously believed. Reports of families showing both phenomena suggest a shared pathophysiology.
A new family with autosomal dominant exercise-induced paroxysmal dystonia is reported.
Two family members also had childhood absence epilepsy, and one of them suffered from acute transient hemiplegia at age 10.
The association of epilepsy and paroxysmal dyskinesia has been rarely reported in the literature, and several loci have been identified. Absence epilepsy and exercise-induced paroxysmal dystonia appear to be very uncommon, although some reports mentioned the association in sporadic and familial cases. The involvement of ion channel genes in several transient neurological disorders supports the hypothesis of a common pathophysiological process underlying both the childhood absence seizure and the later paroxysmal dystonia.
癫痫与阵发性运动障碍之间的界限似乎比之前认为的更难界定。有报道称有些家族同时出现这两种现象，提示存在共同的病理生理学机制。
报告了一个患常染色体显性遗传性运动诱发性阵发性肌张力障碍的新家族。
两名家族成员还患有儿童失神癫痫，其中一人在10岁时患急性短暂性偏瘫。
癫痫与阵发性运动障碍的关联在文献中鲜有报道，且已确定了几个基因座。失神癫痫与运动诱发性阵发性肌张力障碍似乎非常罕见，尽管一些报道提到了散发性和家族性病例中的这种关联。离子通道基因在几种短暂性神经系统疾病中的作用支持了儿童失神发作和后期阵发性肌张力障碍存在共同病理生理过程的假说。
