NaV1.8.

Simon Loose1, Annette Lischka2, Samuel Kuehs1

  • 1Department of Anesthesiology and Intensive Care & CBBM - Center of Brain, Behavior and Metabolism, University of Luebeck, Ratzeburger Allee 160, 23562, Luebeck, Germany.

概括

在电压关闭的通道NaV1.8中,一种罕见的SCN10A基因变异 (p.V1287I) 导致功能损失和功能增益. 这导致感觉神经元过度兴奋,解释了患者的温度调节失调和麻醉.

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