IndraLab

Statements


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"A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine."

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"The sodium channel blocker mexiletine may acutely decrease LQT3-associated late I Na and chronically increase peak I Na associated with SCN5A loss-of-function mutations."

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"Of note, a severe IBS-C case with a highly penetrating SCN5A loss-of-function mutation could be successfully treated with mexiletine, a drug known to restore Na V 1.5 channel function."

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"Chronic mexiletine incubation increases peak sodium current in SCN5A-WT and SCN5A-1795insD transfected HEK293A cells."

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"Where trafficking is suspected, pharmacological rescue is a possibility, first suggested when mexiletine partially-rescued trafficking for a mutation in SCN5A."

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"Patients included in the study were referred to the Molecular Cardiology Division at ICS Maugeri Hospital in Pavia, Italy Patients were genotyped and identified as carriers of a DNA variant in the coding sequence of the SCN5A gene and they were treated with mexiletine."