Greenberg D A, Delgado-Escueta A V
Mount Sinai Medical Center, Department of Psychiatry, New York, NY 10029.
Epilepsia. 1993;34 Suppl 3:S12-8. doi: 10.1111/j.1528-1167.1993.tb06255.x.
Juvenile myoclonic epilepsy (JME) is a common form of adolescent-onset, generalized epilepsy. JME is genetically linked to the HLA locus on chromosome 6. Families of JME patients also have a significant recurrence of other forms of generalized epilepsy. We used the linkage data to investigate the mode of inheritance of JME and the associated electroencephalographic (EEG) traits at the HLA-linked locus. We investigated how robust the linkage results were when we changed the assumptions of mode of inheritance and penetrance and whether absence and clonic-tonic-clonic in JME families are influenced by the same gene locus as JME. Our results show that the finding of linkage is stable within a wide range of assumptions of penetrance and mode of inheritance, and that the EEG traits seen in unaffected family members reflect the actions of the same gene that is involved in the expression of JME. Our data also suggest that the same locus is responsible for non-JME forms of epilepsy seen in JME families, and that either different doses of the disease allele at the JME locus may lead to different epilepsy phenotypes or that another locus influences the final disease phenotype.
青少年肌阵挛性癫痫（JME）是青少年期起病的常见全身性癫痫类型。JME与6号染色体上的HLA基因座存在遗传关联。JME患者的家族中其他形式的全身性癫痫也有显著的复发率。我们利用连锁数据研究JME的遗传模式以及HLA连锁基因座处相关的脑电图（EEG）特征。我们研究了在改变遗传模式和外显率假设时连锁结果的稳健程度，以及JME家族中的失神发作和阵挛 - 强直 - 阵挛发作是否受与JME相同的基因座影响。我们的结果表明，在广泛的外显率和遗传模式假设范围内，连锁发现是稳定的，并且未受影响的家庭成员中出现的EEG特征反映了与JME表达相关的同一基因的作用。我们的数据还表明，JME家族中出现的非JME形式的癫痫由同一基因座负责，并且要么JME基因座处不同剂量的致病等位基因可能导致不同的癫痫表型，要么另一个基因座影响最终的疾病表型。
