Delgado-Escueta A V, Serratosa J M, Liu A, Weissbecker K, Medina M T, Gee M, Treiman L J, Sparkes R S
California Comprehensive Epilepsy Program, West Los Angeles Veterans Affairs Medical Center 90073.
Epilepsia. 1994;35 Suppl 1:S29-40. doi: 10.1111/j.1528-1157.1994.tb05926.x.
The chromosomal loci for seven epilepsy genes have been identified in chromosomes 1q, 6p, 8q, 16p, 20q, 21q, and 22q. In 1987, the first epilepsy locus was mapped in a common benign idiopathic generalized epilepsy syndrome, juvenile myoclonic epilepsy (JME). Properdin factor or Bf, human leukocyte antigen (HLA), and DNA markers in the HLA-DQ region were genetically linked to JME and the locus, named EJM1, was assigned to the short arm of chromosome 6. Our latest studies, as well as those by Whitehouse et al., show that not all families with JME have their genetic locus in chromosome 6p, and that childhood absence epilepsy does not map to the same EJM1 locus. Recent results, therefore, favor genetic heterogeneity for JME and for the common idiopathic generalized epilepsies. Heterogeneity also exists in benign familial neonatal convulsions, a rare form of idiopathic generalized epilepsy. Two loci are now recognized; one in chromosome 20q (EBN1) and another in chromosome 8q. Heterogeneity also exists for the broad group of debilitating and often fatal progressive myoclonus epilepsies (PME). The gene locus (EPM1) for both the Baltic and Mediterranean types of PME or Unverricht-Lundborg disease is the same and is located in the long arm of chromosome 21. Lafora type of PME does not map to the same EPM1 locus in chromosome 21. PME can be caused by the juvenile type of Gaucher's disease, which maps to chromosome 1q, by the juvenile type of neuronal ceroid lipofuscinoses (CLN3), which maps to chromosome 16p, and by the "cherry-red-spot-myoclonus" syndrome of Guazzi or sialidosis type I, which has been localized to chromosome 10. A point mutation in the mitochondrial tRNA(Lys) coding gene can also cause PME in children and adults (MERFF).
已在1号染色体长臂、6号染色体短臂、8号染色体长臂、16号染色体短臂、20号染色体长臂、21号染色体长臂和22号染色体长臂上确定了7个癫痫基因的染色体位点。1987年，首个癫痫位点被定位在一种常见的良性特发性全身性癫痫综合征——青少年肌阵挛性癫痫（JME）中。备解素因子或Bf、人类白细胞抗原（HLA）以及HLA - DQ区域的DNA标记与JME存在遗传连锁关系，该位点被命名为EJM1，定位于6号染色体短臂。我们最近的研究以及怀特豪斯等人的研究表明，并非所有JME家族的遗传位点都在6号染色体短臂上，而且儿童失神癫痫并不定位于同一个EJM1位点。因此，最近的研究结果支持JME以及常见特发性全身性癫痫存在遗传异质性。良性家族性新生儿惊厥（一种罕见的特发性全身性癫痫形式）也存在异质性。现已确认两个位点；一个在20号染色体长臂（EBN1），另一个在8号染色体长臂。对于一大类使人衰弱且往往致命的进行性肌阵挛性癫痫（PME），同样存在异质性。波罗的海型和地中海型PME（即翁韦里希特 - 伦德伯格病）的基因位点（EPM1）相同，位于21号染色体长臂。拉福拉型PME并不定位于21号染色体上的同一个EPM1位点。PME可由定位于1号染色体长臂的青少年型戈谢病、定位于16号染色体短臂的青少年型神经元蜡样脂褐质沉积症（CLN3）以及已定位到10号染色体的瓜齐“樱桃红斑 - 肌阵挛”综合征（即涎酸沉积症I型）引起。线粒体tRNA（Lys）编码基因中的一个点突变也可导致儿童和成人出现PME（肌阵挛性癫痫伴破碎红纤维综合征）。
