Epilepsies in twins: Genetics of the major epilepsy syndromes
Epilepsies in twins: Genetics of the major epilepsy syndromes
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DOI：
10.1002/ana.410430405
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发表时间：
1998-04-01
影响因子：
11.2
通讯作者：
Hopper, JL
中科院分区：
文献类型：
--
作者：
Berkovic, SF;Howell, RA;Hopper, JL
我们研究了双胞胎来检查癫痫综合征的遗传学。我们确定了358对双胞胎，其中一个或两个报告癫痫发作。评估后，358例患者中有253例（71%）有癫痫发作，105对为假阳性。在单合子（MZ）对中，癫痫发作的一致性（108例中的48例;病例一致性= 0.62 +/- 0.05）高于双合子（DZ）对（145例中的14例;病例一致性= 0.18 +/- 0.04）。在94%的一致MZ对和71%的一致DZ对中，两个双胞胎都有相同的主要癫痫综合征。当根据主要癫痫综合征进行分析时，全身性癫痫的病例一致性（MZ = 0.82; DZ = 0.26），均为特发性（MZ = 0.76; DZ = 0.33）和症状性（MZ = 0.83; DZ = 0），大于部分性癫痫（MZ = 0.36; DZ = 0.05），发热性惊厥（MZ = 0.58; DZ = 0.14）和未分类癫痫（MZ = 0.53; DZ = 0.18）的数值居中。我们的结论是，遗传因素是特别重要的全面性癫痫，但也发挥了作用，在部分癫痫。具有相同主要综合征的一致MZ对的高频率强烈表明存在综合征特异性遗传决定因素，而不是癫痫发作的广泛遗传易感性。
We studied twins to examine the genetics of epilepsy syndromes. We ascertained 358 twin pairs in whom one or both reported seizures. After evaluation, 253 of 358 (71%) had seizure disorders and 105 pairs were false positives. Among the monozygous (MZ) pairs, more were concordant for seizures (48 of 108; casewise concordance = 0.62 +/- 0.05) than among the dizygous (DZ) pairs (14 of 145; casewise concordance = 0.18 +/- 0.04). In 94% of concordant MZ pairs, and 71% of concordant DZ pairs, both twins had the same major epilepsy syndrome. When analyzed according to major epilepsy syndrome, the casewise concordances for generalized epilepsies (MZ = 0.82; DZ = 0.26), both idiopathic (MZ = 0.76; DZ = 0.33) and symptomatic (MZ = 0.83; DZ = 0), were greater than those for partial epilepsies (MZ = 0.36; DZ = 0.05), with intermediate values seen for febrile seizures (MZ = 0.58; DZ = 0.14) and unclassified epilepsies (MZ = 0.53; DZ = 0.18). We conclude that genetic factors are particularly important in the generalized epilepsies but also play a role in the partial epilepsies. The high frequency of concordant MZ pairs with the same major syndrome strongly suggests there are syndrome-specific genetic determinants rather than a broad genetic predisposition to seizures.