Kjeldsen Marianne Juel, Corey Linda A, Christensen Kaare, Friis Mogens Laue
Department of Neurology, Odense University Hospital, Sdr. Boulevard 29, DK-5000 Odense C, Denmark.
Epilepsy Res. 2003 Jun-Jul;55(1-2):137-46. doi: 10.1016/s0920-1211(03)00117-7.
The role of genetic factors in the occurrence of epilepsy syndromes was studied in twins recruited from the population-based Danish Twin Registry. A total of 34,076 twins were screened for epilepsy. Cases were confirmed and classified by two neurologists according to the classification systems of the International League Against Epilepsy (ILAE). A total of 214 twin pairs with epileptic seizures and 190 pairs with epilepsy were ascertained. Significantly higher concordance rates were found for monozygotic (MZ) compared to dizygotic (DZ) twins for both epileptic seizures (0.56 for MZ and 0.21 for DZ pairs, P<0.001) and for epilepsy (0.49 for MZ and 0.16 for DZ pairs, P<0.001). Concordance rates were also higher for MZ twins compared to DZ twins for both generalized epilepsy (0.65 for MZ and 0.12 for DZ) and for localization-related epilepsy (0.30 for MZ and 0.10 for DZ). In twin pairs where both members had seizures, 83% of MZ and 65% of DZ pairs had the same major epilepsy syndrome. Genetic factors were found to account for 80% of the liability to both epileptic seizures and epilepsy. In conclusion, analysis of this neurologist-verified epilepsy twin data set has confirmed that genetic factors have a substantial impact on the etiology of epileptic seizures as well as on the occurrence of both generalized and partial epilepsies.
从基于人群的丹麦双胞胎登记处招募双胞胎，研究遗传因素在癫痫综合征发生中的作用。共对34076对双胞胎进行癫痫筛查。病例由两名神经科医生根据国际抗癫痫联盟（ILAE）的分类系统进行确诊和分类。共确定了214对有癫痫发作的双胞胎和190对患有癫痫的双胞胎。对于癫痫发作（同卵双胞胎为0.56，异卵双胞胎为0.21，P<0.001）和癫痫（同卵双胞胎为0.49，异卵双胞胎为0.16，P<0.001），同卵双胞胎的一致性率显著高于异卵双胞胎。对于全身性癫痫（同卵双胞胎为0.65，异卵双胞胎为0.12）和局灶性相关性癫痫（同卵双胞胎为0.30，异卵双胞胎为0.10），同卵双胞胎的一致性率也高于异卵双胞胎。在双方都有发作的双胞胎对中，83%的同卵双胞胎和65%的异卵双胞胎患有相同的主要癫痫综合征。发现遗传因素占癫痫发作和癫痫易感性的80%。总之，对这个经神经科医生验证的癫痫双胞胎数据集的分析证实，遗传因素对癫痫发作的病因以及全身性和部分性癫痫的发生都有重大影响。
