Genetics of febrile seizure subtypes and syndromes: A twin study
Genetics of febrile seizure subtypes and syndromes: A twin study
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DOI：
10.1016/j.eplepsyres.2013.02.011
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发表时间：
2013-07-01
影响因子：
2.2
通讯作者：
Berkovic, Samuel F.
中科院分区：
文献类型：
--
作者：
Eckhaus, Jazmin;Lawrence, Kate M.;Berkovic, Samuel F.
目的：热性惊厥（FS）是最常见的癫痫综合征。通过对家庭和双胞胎的研究，已经确定了很强的遗传成分；然而，这些研究没有检查不同FS类型（简单、复杂、热性癫痫持续状态）和亚综合征（真FS、热性癫痫发作加（FS+）、“FS伴晚期癫痫”）的遗传学。在这里，我们使用基于社区的双胞胎样本来分析不同FS亚型和FS综合征的遗传因素。方法：从癫痫研究中心的双胞胎数据库中确定双胞胎。对所有受试者进行回顾性图表回顾和随访。计算不同亚群的一致性值，分析对内变异。主要发现：共鉴定出179对患有FS的双胞胎。单卵双胞胎FS的总体一致性（0.62）高于双卵双胞胎（0.16,p < 0.0001）。在所有FS亚型和FS亚综合征中，MZ对双胞胎之间的一致性也比DZ对双胞胎更强，特别是在FS+双胞胎中。在一致的MZ对中，我们没有观察到FS和FS+同时出现。意义：这些结果提示不同FS亚型和亚综合征有很强的遗传贡献。它们还支持不同FS亚型和亚综合征，特别是FS+存在不同的遗传因素。这一信息对于下一代热性癫痫发作测序研究的战略规划是重要的。(C) 2013 Elsevier B.V.版权所有
Purpose: 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.Methods: 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.Key findings: 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+.Significance: 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. (C) 2013 Elsevier B.V. All rights reserved.