Inherited ion channel mutations can affect the entire nervous system. Many cause paroxysmal disturbances of brain, spinal cord, peripheral nerve or skeletal muscle function, with normal neurological development and function in between attacks. To fully understand how mutations of ion channel genes cause disease, we need to know the normal location and function of the channel subunit, consequences of the mutation for biogenesis and biophysical properties, and possible compensatory changes in other channels that contribute to cell or circuit excitability. Animal models of monogenic channelopathies increasingly help our understanding. An important challenge for the future is to determine how more subtle derangements of ion channel function, which arise from the interaction of genetic and environmental influences, contribute to common paroxysmal disorders, including idiopathic epilepsy and migraine, that share features with rare monogenic channelopathies.

中文翻译：

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神经通道病。

遗传离子通道突变会影响整个神经系统。许多引起脑、脊髓、外周神经或骨骼肌功能的阵发性障碍，在两次发作之间具有正常的神经发育和功能。为了充分理解离子通道基因的突变如何导致疾病，我们需要了解通道亚基的正常位置和功能、突变对生物发生和生物物理特性的影响，以及其他通道中可能导致细胞或电路兴奋性的代偿性变化。 . 单基因通道病的动物模型越来越有助于我们的理解。未来的一个重要挑战是确定由遗传和环境影响的相互作用引起的离子通道功能的更微妙的紊乱如何，