Greenberg D A
Department of Neurology, University of Pittsburgh School of Medicine, PA 15213, USA.
Ann Neurol. 1997 Sep;42(3):275-82. doi: 10.1002/ana.410420302.
Channels involved in the influx and intracellular mobilization of calcium have been implicated as targets of diverse genetic and immune-mediated neurological diseases. These include the L-type voltage-gated calcium channel of skeletal muscle (hypokalemic periodic paralysis), the neuronal P/Q-type voltage-gated calcium channel (familial hemiplegic migraine, episodic ataxia type 2, spinocerebellar ataxia 6, and Lambert-Eaton myasthenic syndrome), and the skeletal muscle ryanodine receptor (malignant hyperthermia and central core disease). The discovery of these and other calcium channelopathies should help to clarify how different mutations affect channel function and how altered channel function produces disease, and may lead to new treatments for these conditions.
参与钙流入和细胞内动员的通道已被认为是多种遗传和免疫介导的神经疾病的靶点。这些疾病包括骨骼肌的L型电压门控钙通道（低钾性周期性麻痹）、神经元P/Q型电压门控钙通道（家族性偏瘫性偏头痛、发作性共济失调2型、脊髓小脑共济失调6型和兰伯特-伊顿肌无力综合征）以及骨骼肌兰尼碱受体（恶性高热和中央轴空病）。这些以及其他钙通道病的发现应有助于阐明不同突变如何影响通道功能以及通道功能改变如何导致疾病，并可能为这些病症带来新的治疗方法。
