致病性KCNQ2变异G256W的分子动力学揭示了性脑病变中通道功能障碍的机制

Emma C Thompson1,2,3, Edward C Cooper3,4,5, Bill R Miller2

  • 1Department of Physical Sciences, Truman State University, Kirksville, MO, USA.

概括

KCNQ2通道变异导致和发育问题. 分子动力学揭示了一种致病变体 (G256W) 破坏了离子选择性过器的稳定性,影响了大脑功能,并提供了对KCNQ2发育和脑病变的见解.

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