Greenberg D A, Durner M, Resor S, Rosenbaum D, Shinnar S
Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029, USA.
Neurology. 1995 May;45(5):942-6. doi: 10.1212/wnl.45.5.942.
Both linkage and association studies provide strong evidence that a gene locus on chromosome 6 is involved in the expression of juvenile myoclonic epilepsy (JME), an adolescent-onset form of primary idiopathic generalized epilepsy (IGE). This epilepsy-related gene locus, designated EJM-1, may also influence the expression of other forms of IGE. We report here evidence that at least one form of epilepsy that is similar to JME--pure, adolescent-onset grand mal epilepsy in which the seizures occur at any time during waking--is not linked to the EJM-1 locus. However, we also have evidence that another form of pure, adolescent-onset grand mal that occurs on awakening is linked to the EJM-1 locus and may be genetically the same as JME. This work suggests that clinically similar epileptic syndromes may have different genetic bases and underscores the critical importance of careful clinical observations in studying the genetics of the epilepsies.
连锁分析和关联研究均提供了有力证据，表明6号染色体上的一个基因座与青少年肌阵挛性癫痫（JME）的表达有关，JME是一种青少年起病的原发性特发性全身性癫痫（IGE）。这个与癫痫相关的基因座，命名为EJM - 1，可能也会影响其他形式IGE的表达。我们在此报告证据表明，至少有一种与JME相似的癫痫——单纯的、青少年起病的大发作癫痫，其发作在清醒期间的任何时间发生——与EJM - 1基因座没有连锁关系。然而，我们也有证据表明，另一种在觉醒时发生的单纯的、青少年起病的大发作形式与EJM - 1基因座连锁，并且在遗传上可能与JME相同。这项工作表明，临床相似的癫痫综合征可能有不同的遗传基础，并强调了在研究癫痫遗传学中仔细临床观察的至关重要性。
