Department of Human and Molecular Genetics, Virginia Commonwealth University, P.O. Box 980033, Richmond, VA 23298-0033, United States.
Epilepsy Res. 2011 Nov;97(1-2):103-11. doi: 10.1016/j.eplepsyres.2011.07.018. Epub 2011 Aug 31.
Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868 dizygotic pairs ascertained from population-based twin registries in Denmark, Norway and the United States. Syndrome type was determined based on medical record information and detailed clinical interviews and classified using the International Classification Systems for the Epilepsies and Epileptic Syndromes. Concordance rates were significantly increased in monozygotic versus dizygotic pairs for all major syndrome groups except localization-related cryptogenic epilepsy. Among generalized epilepsies, genetic factors were found to play an important role in the determination of childhood absence, juvenile absence, juvenile myoclonic, and idiopathic generalized epilepsy; and to a lesser degree for epilepsies with grand mal seizures on awakening. Among localization-related epilepsies, genetic factors contributed to risk for localization-related idiopathic and symptomatic syndromes overall, but did not appear to play an important role in determining risk for frontal, occipital or temporal lobe epilepsy. These results suggest that, while genetic factors contribute to risk for major syndrome types, determined when possible, their contribution to risk for localization-related syndrome sub-types, as defined by specific focality, may be modest.
虽然有强有力的证据表明遗传因素与癫痫风险有关，但它们在确定综合征类型中的作用尚不明确。本研究旨在解决这一问题。从丹麦、挪威和美国的基于人群的双胞胎登记处确定的 455 对同卵双胞胎和 868 对异卵双胞胎中获取了与癫痫相关的信息。根据病历信息和详细的临床访谈，使用国际癫痫和癫痫综合征分类系统确定了综合征类型。除了与定位相关的隐源性癫痫外，同卵双胞胎的一致性率明显高于异卵双胞胎。在全面性癫痫中，遗传因素对儿童失神、青少年失神、青少年肌阵挛和特发性全面性癫痫的确定起着重要作用；而在与大发作相关的癫痫中作用较小。在与定位相关的癫痫中，遗传因素总体上导致与定位相关的特发性和症状性综合征的风险增加，但似乎在确定额、顶或颞叶癫痫的风险方面作用不大。这些结果表明，虽然遗传因素会增加主要综合征类型的风险，但当可能确定时，它们对特定局灶性定义的与定位相关的综合征亚型的风险的贡献可能较小。
