GENE MAPPING OF JUVENILE MYOCLONIC EPILEPSY: MOVEMENT DISORDERS

“癫痫”一词源于希腊语中的“被夺走” 指的是以反复癫痫发作为特征的状态。 全身性癫痫表现为癫痫发作，临床表现为 脑电图仪(EEG)特征显示双侧同步 开始了。全面性癫痫发作的各种类型 癫痫是失神发作、强直阵挛发作(大发作)、 肌阵挛发作，强直性和紧张性发作。特发性 癫痫是指那些没有其他潜在原因的癫痫 可能的遗传易感性，并与正常的 智力和正常的神经状态。遗传基因导致的结果 连锁研究表明癫痫基因座存在于 6p11号染色体，其表型为典型的青少年肌阵挛 癫痫(JME)伴抽搐和/或脑电多棘波复合波。 对22个JME家系的进一步研究提供了第一个统计数据 常染色体中存在遗传异质性的证据 JME的主导形式。我们建议对S的基因进行定位和突变分析 青少年性肌阵挛癫痫S基因缺失及6p基因的鉴定 JME1基因。

The word "epilepsy" derives from the Greek "to be seized" and refers to a condition characterized by recurrent epileptic seizures. Generalized epilepsies are manifested by seizures with clinical and electroencephalograph (EEG) features indicating bilateral synchronous onsets. Various epileptic seizure types observed in generalized epilepsies are absence seizures, tonic-clonic seizures (grand mal), myoclonic seizures, and tonic and atonic seizures. Idiopathic epilepsies are those epilepsies that have no underlying cause other than a possible genetic predisposition and are associated with normal intelligence and normal neurological status. Results from genetic linkage studies demonstrate that an epilepsy locus exists in chromosome 6p11 whose phenotype consists of classic juvenile myoclonic epilepsy (JME) with convulsions and/or EEG multispike wave complexes. Further studies into 22 JME families provide the first statistical evidence that genetic heterogeneity is present in the autosomal dominant form of JME. We propose to map gene(s) and analyze mutations of gene(s) for juvenile myoclonic epilepsy and to identify the chr.6p JME1 gene.