Division of Child Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
McMicken College of Arts and Sciences, University of Cincinnati, Cincinnati, OH.
Ann Neurol. 2018 Jul;84(1):1-9. doi: 10.1002/ana.25268.
Voltage-gated sodium channels have been implicated in numerous inherited paroxysmal disorders of the nervous system, muscle, and heart. Our goal is to provide a framework that helps neurologists understand the clinical and treatment implications of sodium channel variants they encounter in clinical practice. This will be accomplished through our objectives of (1) recognizing the relationship between location of a missense sodium channel gene variant and its effect on channel function, and (2) categorizing clinical phenotype based on functional effect of a variant. The relationship between location, function, and treatment response is also discussed. These interactions can be illustrated by the sodium channelopathies seen in people with epilepsy but generalize beyond that disorder. Ann Neurol 2018;83:1-9.
电压门控钠离子通道与多种遗传性神经、肌肉和心脏系统发作性疾病相关。我们的目标是提供一个框架，帮助神经科医生理解在临床实践中遇到的钠离子通道变异的临床和治疗意义。这将通过以下两个目标来实现：（1）认识到错义钠离子通道基因突变的位置与其对通道功能的影响之间的关系；（2）根据变异的功能效应对临床表型进行分类。还讨论了位置、功能和治疗反应之间的关系。这些相互作用可以通过癫痫患者中出现的钠离子通道病来说明，但不仅限于该疾病。神经病学年鉴 2018；83：1-9.
