Surtees R
Institute of Child Health (UCLMS), London, UK.
J Inherit Metab Dis. 1999 Jun;22(4):374-80. doi: 10.1023/a:1005591820414.
Inborn errors of neurotransmitter receptors are recently described gene mutations that directly affect receptor function. Currently three conditions are known to be caused by this mechanism: hyperekplexia; two forms of congenital inherited myasthenic syndromes; and autosomal dominant nocturnal frontal lobe epilepsy. Here, neurotransmitters, their receptors and known inborn errors of receptor function are reviewed.
神经递质受体的先天性缺陷是最近发现的直接影响受体功能的基因突变。目前已知有三种病症是由这种机制引起的：惊吓症；两种先天性遗传性重症肌无力综合征；以及常染色体显性遗传性夜间额叶癫痫。本文将对神经递质、其受体以及已知的受体功能先天性缺陷进行综述。
