Article

Loss or Gain of Function? Effects of Ion Channel Mutations on Neuronal Firing Depend on the Cell Type

2023-01-17

Abstract excerpt

Clinically relevant mutations to voltage-gated ion channels, called channelopathies, alter ion channel function, properties of ionic current and neuronal firing. The effects of ion channel mutations are routinely assessed and characterized as loss of function (LOF) or gain of function (GOF) at the level of ionic currents. Emerging personalized medicine approaches based on LOF/GOF characterization have limited ther...

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Literature Corpus work: 4883fd68-58fd-50fe-80ad-2a818a417651
DOI: 10.1101/2023.01.16.524256

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