Vijai J, Kapoor A, Ravishankar H M, Cherian P J, Girija A S, Rajendran B, Rangan G, Jayalakshmi S, Mohandas S, Radhakrishnan K, Anand A
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Hum Genet. 2003 Oct;113(5):461-3. doi: 10.1007/s00439-003-1003-8. Epub 2003 Aug 20.
Juvenile myoclonic epilepsy (JME) is a common subtype of idiopathic generalized epilepsy that shows a complex pattern of inheritance. We have tested the association between JME phenotype and an intragenic marker in KCNQ3 by using the transmission disequilibrium test in 119 probands and their parents. Mutations in KCNQ3 are known to cause benign familial neonatal convulsions and are involved in the physiologically important M current in neurons. Our results provide suggestive evidence of allelic association between JME and KCNQ3 ( P-value=0.008) and raise an interesting possibility of a genetic contribution to JME, viz., of a gene that causes a monogenic form of human epilepsy.
青少年肌阵挛性癫痫（JME）是特发性全身性癫痫的一种常见亚型，呈现出复杂的遗传模式。我们通过对119名先证者及其父母进行传递不平衡检验，测试了JME表型与KCNQ3基因内标记之间的关联。已知KCNQ3突变会导致良性家族性新生儿惊厥，并且与神经元中具有重要生理意义的M电流有关。我们的结果提供了JME与KCNQ3之间等位基因关联的提示性证据（P值 = 0.008），并提出了一个关于JME遗传因素的有趣可能性，即存在一个导致人类单基因形式癫痫的基因。
