Vincent Angela, Lang Bethan, Kleopa Kleopas A
Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.
Neuron. 2006 Oct 5;52(1):123-38. doi: 10.1016/j.neuron.2006.09.024.
Ion channels are crucial elements in neuronal signaling and synaptic transmission, and defects in their function are known to underlie rare genetic disorders, including some forms of epilepsy. A second class of channelopathies, characterized by autoantibodies against ligand- and voltage-gated ion channels, cause a variety of defects in peripheral neuromuscular and ganglionic transmission. There is also emerging evidence for autoantibody-mediated mechanisms in subgroups of patients with central nervous system disorders, particularly those involving defects in cognition or sleep and often associated with epilepsy. In all autoimmune channelopathies, the relationship between autoantibody specificity and clinical phenotype is complex. But with this new information, autoimmune channelopathies are detected and treated with increasing success, and future research promises new insights into the mechanisms of dysfunction at neuronal synapses and the determinants of clinical phenotype.
离子通道是神经元信号传导和突触传递的关键要素，已知其功能缺陷是包括某些形式癫痫在内的罕见遗传疾病的基础。第二类通道病以针对配体门控和电压门控离子通道的自身抗体为特征，会在外周神经肌肉和神经节传递中导致各种缺陷。在中枢神经系统疾病患者的亚组中，特别是那些涉及认知或睡眠缺陷且常与癫痫相关的患者，也有越来越多的证据表明存在自身抗体介导的机制。在所有自身免疫性通道病中，自身抗体特异性与临床表型之间的关系都很复杂。但有了这些新信息，自身免疫性通道病的检测和治疗越来越成功，未来的研究有望对神经元突触功能障碍机制和临床表型的决定因素有新的认识。
