Vadlamudi Lata, Kjeldsen Marianne J, Corey Linda A, Solaas Marit H, Friis Mogen L, Pellock John M, Nakken Karl O, Milne Roger L, Scheffer Ingrid E, Harvey A Simon, Hopper John L, Berkovic Samuel F
Epilepsy Research Centre, Department of Medicine (Neurology), University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Epilepsia. 2006 Mar;47(3):550-5. doi: 10.1111/j.1528-1167.2006.00466.x.
Benign rolandic epilepsy (BRE) is considered a genetically determined idiopathic partial epilepsy. We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology.
Large population-based twin registries of epilepsies from Odense (Denmark), Richmond, Virginia (United States), and Oslo (Norway) were reviewed for BRE cases and added to our Australian twin data. Diagnosis of classic BRE was based on electroclinical criteria with normal neurologic development. Cases with a compatible electroclinical picture but abnormal neurologic development were termed non-classic BRE.
Eighteen twin pairs were identified (10 monozygous; eight dizygous) of whom at least one twin was diagnosed with classic BRE among a total sample of 1,952 twin pairs validated for seizures, and all were discordant for BRE. The estimated monozygous pairwise concordance for BRE in this sample was 0.0 [95% confidence interval (CI), 0.0-0.3). Four twin pairs (one monozygous, three dizygous) had non-classic BRE, and all co-twins had seizures.
The twin data showing an absence of any concordant twin pairs with classic BRE suggest that noninherited factors are of major importance in BRE. Modelling the data shows that the familial occurrence of centrotemporal spikes makes only a minor contribution to the familial aggregation of BRE. Genetic factors are probably more important in non-classic BRE. The etiology and mode(s) of inheritance of BRE are much more complicated than initially conceptualized.
良性罗兰多癫痫（BRE）被认为是一种由基因决定的特发性局灶性癫痫。我们分析了来自四个国际双胞胎登记处的大量双胞胎样本，以探究BRE的遗传学特征。我们还旨在将明显相互矛盾的家族和双胞胎数据整合为一个BRE病因模型。
对来自丹麦欧登塞、美国弗吉尼亚州里士满和挪威奥斯陆的基于人群的大型癫痫双胞胎登记处进行回顾，以查找BRE病例，并将其纳入我们的澳大利亚双胞胎数据。经典BRE的诊断基于具有正常神经发育的电临床标准。具有相符的电临床特征但神经发育异常的病例被称为非经典BRE。
在1952对经癫痫发作验证的双胞胎样本中，共识别出18对双胞胎（10对单卵双胞胎；8对双卵双胞胎），其中至少有一名双胞胎被诊断为经典BRE，且所有双胞胎对BRE均不一致。该样本中BRE的估计单卵双胞胎成对一致性为0.0[95%置信区间（CI），0.0 - 0.3]。4对双胞胎（1对单卵双胞胎，3对双卵双胞胎）患有非经典BRE，且所有配对双胞胎均有癫痫发作。
双胞胎数据显示不存在任何一对经典BRE的一致双胞胎对，这表明非遗传因素在BRE中起主要作用。对数据进行建模表明，中央颞区棘波的家族性出现对BRE的家族聚集仅起较小作用。遗传因素在非经典BRE中可能更为重要。BRE的病因和遗传方式比最初设想的要复杂得多。
