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Article

Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type

24 May 2023

Abstract excerpt

Introduction Clinically relevant mutations to voltage-gated ion channels, called channelopathies, alter ion channel function, properties of ionic currents, 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. However, emerging personalized medicine approaches based on LOF/GOF...

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PMID: 37292138
DOI: 10.3389/fneur.2023.1194811

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