Berkovic S F, Howell R A, Hay D A, Hopper J L
Department of Medicine, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), Victoria, Australia.
Ann Neurol. 1998 Apr;43(4):435-45. doi: 10.1002/ana.410430405.
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.
我们对双胞胎进行了研究，以探究癫痫综合征的遗传学因素。我们确定了358对双胞胎，其中一方或双方报告有癫痫发作。经过评估，358对中有253对（71%）患有癫痫疾病，105对为假阳性。在同卵双胞胎（MZ）对中，癫痫发作的一致性（108对中有48对；病例一致性 = 0.62±0.05）高于异卵双胞胎（DZ）对（145对中有14对；病例一致性 = 0.18±0.04）。在94%的一致性MZ对和71%的一致性DZ对中，双胞胎患有相同的主要癫痫综合征。根据主要癫痫综合征进行分析时，全身性癫痫（MZ = 0.82；DZ = 0.26）的病例一致性，包括特发性（MZ = 0.76；DZ = 0.33）和症状性（MZ = 0.83；DZ = 0），高于部分性癫痫（MZ = 0.36；DZ = 0.05），热性惊厥（MZ = 0.58；DZ = 0.14）和未分类癫痫（MZ = 0.53；DZ = 0.18）的病例一致性处于中间值。我们得出结论，遗传因素在全身性癫痫中尤为重要，但在部分性癫痫中也起作用。具有相同主要综合征的一致性MZ对的高频率强烈表明存在综合征特异性的遗传决定因素，而不是对癫痫发作的广泛遗传易感性。
