Article

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

2019-06-14

Abstract excerpt

<h4>Summary</h4> Malfunctions of voltage-gated sodium and calcium channels (SCN and CACNA1 genes) have been associated with severe neurologic, psychiatric, cardiac and other diseases. Altered channel activity is frequently grouped into gain or loss of ion channel function (GOF or LOF, respectively) which is not only corresponding to clinical disease manifestations, but also to differences in drug response. Experi...

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Literature Corpus work: 7cb8fdc7-3b3a-5618-a13f-6f0eb76838dc
DOI: 10.1101/671453

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