Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Epilepsy Res. 2013 Jul;105(1-2):103-9. doi: 10.1016/j.eplepsyres.2013.02.011. Epub 2013 Mar 21.
Febrile seizures (FS) are the most common seizure syndrome. A strong genetic component has been well established through family and twin studies; however, such studies have not examined the genetics of different FS types (simple, complex, febrile status epilepticus) and sub-syndromes (true FS, febrile seizures plus (FS+), 'FS with later epilepsy'). Here we used a community-based twin sample to analyze genetic factors within different FS subtypes and FS syndromes.
Twin pairs were ascertained from the twin database of the Epilepsy Research Centre. A retrospective chart review was conducted and follow-up attempted for all subjects. Casewise concordance values were calculated for the different subgroups and intra-pair variation was analyzed.
One hundred and seventy-nine twin pairs with FS were identified. Overall casewise concordance for FS in monozygotic (MZ) twins (0.62) was greater than in dizygotic (DZ) twins (0.16, p<0.0001). A greater concordance amongst MZ pairs than DZ twin pairs was also observed for all FS subtypes and FS sub-syndromes, particularly in twins with FS+. Within concordant MZ pairs, we did not observe the co-occurrence of FS and FS+.
These results suggest a strong genetic contribution to different FS subtypes and sub-syndromes. They also support the existence of distinct genetic factors for different FS subtypes and sub-syndromes, especially FS+. This information is important for the strategic planning of next generation sequencing studies of febrile seizures.
热性惊厥（FS）是最常见的惊厥综合征。通过家族和双胞胎研究已经充分证实了其具有很强的遗传成分；然而，此类研究并未检查不同 FS 类型（单纯性、复杂性、热性惊厥持续状态）和亚综合征（真性 FS、热性惊厥附加症（FS+）、“FS 后继发性癫痫”）的遗传学。在这里，我们使用基于社区的双胞胎样本分析了不同 FS 亚型和 FS 综合征内的遗传因素。
从癫痫研究中心的双胞胎数据库中确定双胞胎对。对所有对象进行了回顾性图表审查和随访。计算了不同亚组的病例一致性值，并分析了对双胞胎内的个体差异。
确定了 179 对患有 FS 的双胞胎。单卵双胞胎（MZ）FS 的总病例一致性（0.62）大于双卵双胞胎（DZ）FS（0.16，p<0.0001）。在所有 FS 亚型和 FS 亚综合征中，MZ 双胞胎的一致性都大于 DZ 双胞胎，尤其是 FS+的双胞胎中更为明显。在一致的 MZ 双胞胎中，我们没有观察到 FS 和 FS+的同时发生。
这些结果表明，不同 FS 亚型和亚综合征存在很强的遗传因素。它们还支持不同 FS 亚型和亚综合征存在不同的遗传因素，特别是 FS+。这些信息对于 FS 的下一代测序研究的战略规划很重要。
