Elmslie F, Gardiner M
Department of Paediatrics, University College London Medical School, UK.
Curr Opin Neurol. 1995 Apr;8(2):126-9. doi: 10.1097/00019052-199504000-00007.
The epilepsy gene map has been refined and extended with new information concerning benign familial neonatal convulsions, benign familial infantile convulsions, Unverricht-Lundborg disease, epilepsy with progressive mental retardation and juvenile myoclonic epilepsy. Understanding of the molecular basis of paroxysmal disorders affecting the central nervous system has been revolutionalized with the identification of mutations in genes for the neurotransmitter receptors, GLRA1 and CHRNA4, and a voltage-gated potassium channel, KCNA1, as causes of inherited neurological disease.
随着有关良性家族性新生儿惊厥、良性家族性婴儿惊厥、翁韦里希特-伦德伯格病、进行性智力迟钝性癫痫和青少年肌阵挛性癫痫的新信息出现，癫痫基因图谱得到了完善和扩展。随着神经递质受体基因GLRA1和CHRNA4以及电压门控钾通道基因KCNA1中的突变被确定为遗传性神经疾病的病因，人们对影响中枢神经系统的阵发性疾病的分子基础的理解发生了革命性变化。
