Haug K, Hallmann K, Horvath S, Sander T, Kubisch C, Rau B, Dullinger J, Beyenburg S, Elger C E, Propping P, Heils A
University Department of Human Genetics, Wilhelmstr. 31, 53111, Bonn, Germany.
Epilepsy Res. 2000 Nov;42(1):57-62. doi: 10.1016/s0920-1211(00)00164-9.
Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. Recent identification of ion channel gene mutations in Mendelian epileptic disorders suggests genetically driven neuronal hyperexcitability as one important factor in epileptogenesis. Mutations in two neuronal voltage-gated potassium channel genes (KCNQ2 and KCNQ3) have already been shown to cause epilepsy (BFNC), and we now tested the hypothesis that genetic variation in the KCNQ3 gene confers liability to common IGE subtypes. Length variation of two intragenic polymorphic markers (D8S558 and D8S1835) were therefore assessed in 71 nuclear families ascertained for an affected child. However, the transmission-disequilibrium-test did not show significant differences between the transmitted and non-transmitted parental alleles. Thus, our findings do not provide evidence that genetic variation in the KCNQ3 gene exerts a relevant effect in the etiology of common IGE subtypes.
特发性全身性癫痫（IGE）是一组异质性疾病，其中提示具有高遗传易感性和复杂的遗传模式。最近在孟德尔癫痫疾病中鉴定出离子通道基因突变，提示遗传驱动的神经元过度兴奋是癫痫发生的一个重要因素。两个神经元电压门控钾通道基因（KCNQ2和KCNQ3）的突变已被证明可导致癫痫（良性家族性新生儿惊厥，BFNC），我们现在检验了这样一个假设，即KCNQ3基因的遗传变异会增加常见IGE亚型的易感性。因此，在71个因孩子患病而确定的核心家庭中，评估了两个基因内多态性标记（D8S558和D8S1835）的长度变异。然而，传递不平衡检验并未显示传递的和未传递的亲本等位基因之间存在显著差异。因此，我们的研究结果没有提供证据表明KCNQ3基因的遗传变异在常见IGE亚型的病因学中发挥相关作用。
